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Archive for the ‘Genetic medicine’ Category

Celebrate the Third Annual Medical Genetics Awareness Week April 13-16, 2021 – PRNewswire

Sunday, February 14th, 2021

BETHESDA, Md., Feb. 11, 2021 /PRNewswire/ --The third annual Medical Genetics Awareness Week will be celebrated April 1316, 2021. Through Medical Genetics Awareness Week, the American College of Medical Genetics and Genomics (ACMG) aims to promote awareness of the importance of medical genetics professionals on the healthcare team, including medical geneticists, laboratory geneticists, genetic counselors, nurses and physician assistants. The theme of Medical Genetics Awareness Week is "Celebrating the Contributions of the Entire Medical Genetics Team to Patient Care and Public Health."

New for 2021 are high-quality face masks and a Zoom virtual background to help individuals "Share Your Medical Genetics Pride." Participants can share their pictures to social media wearing a Medical Genetics Awareness Week face mask (free for ACMG members) or a Medical Genetics Awareness Week hashtag button; using a new Medical Genetics Awareness Week Zoom virtual background; or displaying a Medical Genetics Awareness Week sticker.

Since 2019, Medical Genetics Awareness Week has brought together people from across the globe to celebrate the important work of medical genetics professionals. Medical Genetics Awareness Week is celebrated to recognize the critical contributions that medical genetics healthcare professionals make in the diagnosis, management and prevention of genetic diseases, and the difference these professionals make in the lives of patients and families. Medical Genetics Awareness Week is also intended to educate other healthcare professionals and students and trainees on who medical geneticists are, how they are trained and what they do in the clinic and laboratory.

Also new for 2021 are themed days that will include a Diversity Day and a Student and Trainee Day. Follow Medical Genetics Awareness Week on social media by searching the #MedicalGeneticsAwareness hashtagand sign up to receive news and updates about Medical Genetics Awareness Week by clicking here. Log in (or create a free ACMG account) and, on the privacy preferences page, opt in to receive news and updates about Medical Genetics Awareness Week.

"Medical genetics and genomics is now deeply wedged into nearly all disciplines of medicine," said ACMG President Anthony R. Gregg, MD, MBA, FACOG, FACMG. "It is a natural extension that we remind the public and all healthcare professionals that those of us who practice medical genetics in clinics, clinical laboratories and research environments work tirelessly and with great enthusiasm. Our singular common goal is to bring accurate genetic information to the bedside that will improve people's lives."

Events related to Medical Genetics Awareness Week will be held during the ACMG Annual Clinical Genetics Meeting A Virtual Experience, April 1316, 2021, but participants don't need to be a meeting registrant to participate in the week's activities. The ACMG Annual Meeting is the largest conference specifically for clinical and laboratory geneticists in the United States. Those interested in collaborating with ACMG to celebrate Medical Genetics Awareness Week, holding their own events or becoming an "ambassador" for medical genetics are invited to email ACMG Communications Coordinator Reymar Santos at [emailprotected]for more information.

"Medical genetics is for all of us," said Max Muenke, MD, FACMG, ACMG'schief executive officer. "I am delighted to celebrate my colleagues in this important field: genetic counselors, laboratory geneticists, medical geneticists, and other allied healthcare professionals who are committed to optimal patient care."

Visit the Medical Genetics Awareness Week web pageson ACMG's website for resources and tips designed to support the week's celebrationsand to join the Medical Genetics Awareness Week email list. When posting on social media, participants are encouraged to tag @TheACMG and include the following hashtags in posts related to Medical Genetics Awareness Week:


About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,400 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website ( offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Kathy Moran, MBA[emailprotected]

SOURCE American College of Medical Genetics and Genomics

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Celebrate the Third Annual Medical Genetics Awareness Week April 13-16, 2021 - PRNewswire


How will WNY fare in the race between vaccines and coronavirus variants? – Buffalo News

Sunday, February 14th, 2021

Doctors and researchers understand much more now than they did a year ago about virus spread and the damage it can inflict. Treatments have improved greatly. It is apparent who is most at risk, although people of all ages, races and socio-economic backgrounds have been hospitalized and died.

Public health leaders and infectious disease specialists includingDr. John Sellick Jr., aprofessor of medicine at the University at Buffalo Jacobs School of Medicine and Biomedical Sciences, encourage Western New Yorkers to practice Covid-prevention measures and refrain from travel until vaccination rates lower fears about the spread of new coronavirus variants.

The vaccination race will be critical to whether we need to resume the kinds of lockdowns that have taken place in recent months in Great Britain, Sellick said, but again, its back to the basics: masks, use of physical distancing, avoiding crowds, good hand hygiene. The more we do that, the more we're going to neutralize the effect of one of these more easily transmissible strains.

Q: What if a relative or a friend is planning a trip south or west to enjoy warmer weather?

I don't want those people around me for even five minutes, Sellick said, because travel in such uncertain times especially to places with beaches, outdoor restaurants and other magnets for large gatherings raises the risk of contracting the virus, or a variant, and endangering others.

Q: What states pose the greatest risk for contracting and spreading the virus?

The positive virus test rate in the region at the end of last week was about 3.5%. The rate in Florida was twice that, and it was more than three times higher in Texas and Georgia. The rate was at least five times higher in Iowa, Idaho, Kansas, Kentucky and South Dakota, according toBeckers Hospital Review.

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How will WNY fare in the race between vaccines and coronavirus variants? - Buffalo News


Myriad Genetics to Participate in Multiple Upcoming Health and Technology Conferences – GlobeNewswire

Sunday, February 14th, 2021

SALT LAKE CITY, Feb. 11, 2021 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in genetic testing and precision medicine, announced today that it will participate at multiple upcoming health and technology conferences, sharing insights on how the company is intensifying its focus on serving patients and healthcare providers in Womens Health, Oncology and Mental Health.

Paul J. Diaz, president and CEO at Myriad Genetics, and R. Bryan Riggsbee, CFO, will participate in a fireside chat at the BTIG Virtual MedTech, Digital Health, Life Science & Diagnostic Tools Conference on February 19 at 10:30 a.m. EST.

On February 24, 2021, Mr. Riggsbee will participate in a fireside chat at the Leerink Global Healthcare Conference at 5:00 p.m. EST.

On March 2, 2021, Mr. Diaz will participate in a fireside chat at the Cowen Annual Healthcare Conference at 9:50 a.m. EST.

The presentations will be available through a live audio webcast link in the investor information section of Myriads website at

About Myriad GeneticsMyriad Genetics, Inc. is a leading genetic testing and precision medicine company dedicated to improving health and transforming patient lives worldwide. Myriad discovers and commercializes genetic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across medical specialties where critical genetic insights can significantly improve patient care and lower healthcare costs. For more information, visit the Company's website:

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, Vectra, Prequel, Foresight, GeneSight, riskScore and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

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Myriad Genetics to Participate in Multiple Upcoming Health and Technology Conferences - GlobeNewswire


ASCO GU 2021: The Landscape of Genetic Alterations Using ctDNA-based Comprehensive Genomic Profiling in Pat… – UroToday

Sunday, February 14th, 2021

(, both of the tumor (somatic) and germline, are increasingly being incorporated into clinical oncologic care, both with regard to specific targeted therapy selections (e.g.PARP inhibitors) and therapy intensity (e.g.aggressive variants,e.g.genomic alterations inRB1, TP53).Often re-biopsy can impose an additional barrier for a patient, or is limited by site of metastasis, such as bone.These realities are justifications for the herald of the non-invasive evaluation of tumor genomics from the circulating (blood) compartment via circulating tumor DNA (ctDNA).Herein, Dr. Tukachinsky and colleagues endeavored to evaluate via hybrid-capture-based targeted gene panel next generation sequencing (NGS) the landscape of genomic alterations (GA) found in the plasma of patients with metastatic castration-resistant prostate cancer (mCRPC), and, in a subset, evaluate concordance with tissue-based NGS assessments.

Plasma samples were culled from 3334 men with advanced prostate cancer, including 1674 subjects from the TRITON2/3 studies of rucaparib and 1660 non-trial clinical samples.The observed GA landscape was compared to 2006 metastatic biopsies, with concordance assessed in 837 patients.In keeping with previous reports of ctDNA burden, 94% (3127) of subjects had detectable ctDNA with 8.8% (295) with mutations inBRCA1/2.Concordance with tissue evidence ofBRCA1/2mutations was observed in 93% of evaluable subjects (67/72) and 20 subjects had evidence of such mutationsonlyin ctDNA.Notably, subclonal reversion mutations inBRCA1/2were observed in 10 of 1660 routine clinical specimens, suggesting a mechanism for PARPi resistance, at least in a subpopulation evaluated.

Alterations inAR, the gene encoding the androgen receptor, were detected in 42% (940/2213) samples, including amplifications and hotspot mutations.Among the mutations detected are specific alterations which confer resistance to commonly used highly-potent ARSIs, such as abiraterone acetate and enzalutamide.The authors also describe a subset of samples with rare compound double mutations and novel potentially activating mutations in AR. Additional GAs were detected in relevant signaling pathways including PI3K/AKT/mTOR (14%), WNT/beta-catenin (17%), and RAS/RAF (5%).Microsatellite instability was rare (1.4% of 2213 patients).

These data lend further support to the relative reliability (as compared to tissue assays) of using plasma for evaluating relevant tumor genomic alterations in the advanced metastatic setting, reflecting genomics data demonstrating that dominant metastatic clones found at autopsy can be found in the circulating compartment1.This is particularly powerful as detection of resistant subclones that may not be in a tissue-based sample, either because these cells reflect occult or unsampled metastatic samples, could impact therapeutic decisions. It should be considered that use of subjects from the TRITON studies, which comprised approximately half of the cohort may result in higher rates of observed GAs inBRCA1/2than in daily practice, given the enrichment in such genomic alterations as ground truth in this group.As noted by the authors, the limitations of the assay in these studies includes an inability to detect deletions inBRCA1/BRCA2, as well as other clinically-relevant commonly-deleted prostate cancer genes (e.g. PTEN). Further evaluation using orthogonal assays, such as RNAseq, would add additional detail, particularly along the AR signaling axis, to these promising results. Finally, the authors astutely recommend that a degree of caution must be taken when interpreting liquid biopsy results, given the influence of alterations representing clonal hematopoiesis.

Publication of full length publication can be found in the February 8thissue ofClinical Cancer Research.

Presented by: Hanna Tukachinsky, PhD, Foundation Medicine Inc., Cambridge, MA

Written by: Jones Nauseef MD, PhD. Fellow, Division of Hematology and Oncology, Weill Cornell Medicine/New York Presbyterian Hospital. Twitter: @DrJonesNauseefduring the2021 ASCO Genitourinary Cancers Symposium (ASCO GU), February 11th to 13th, 2021

References:1. Woodcock DJ, Riabchenko E, Taavitsainen S, et al., Prostate cancer evolution from multilineage primary to single lineage metastases with implications for liquid biopsy. Nature Comm. 11:5070 (2020). DOI:10.1038/s41467-020-18843-5.

ASCO GU 2021: The Landscape of Genetic Alterations Using ctDNA-based Comprehensive Genomic Profiling in Pat... - UroToday


The Human Genome and the Making of a Skeptical Biologist – Scientific American

Sunday, February 14th, 2021

Graduate and medical school interviews are not democratic spaces. Whatever the interviewer says during that 30 minutes, is the rule of law.

Surely there were policies about the legality of certain questions, but those often arent operational during the interview. Those of us in the chair only hope that the questions arent too difficult, that the interviewer doesnt focus on (or conjure) a flaw in our application, spend the 30 minutes of our engagement berating us for it, breaking our self-esteem for all of eternity.

One interview day during the fall of 2001, however, was special. Interviewer Z, as we will call them, had a different agenda than most.

Across a wooden desk they sat, their attention focused on a computer slightly off to my left. They tilted the monitor so that we could both see it, and walked me through a few of the things that they had worked on.

Interviewer Z was a physician turned basic scientist who made a name for themself as a virologist. In the last several years, they had moved into studying adenovirus-associated vectors (AAV) that were being used as delivery vehicles for gene therapy.

They told me that I was a promising researcher and were curious why I wanted to bother with clinical medicine at all (they were onto something). In light of that, they preferred to spend our interview time teaching me how to build a successful scientific career.

Their tips to building a career? Identify somethinga gene, a protein, a pathway, perhaps an organismand study a feature of it that no one has, in great depth. Study it well enough to publish results in a reasonably well-regarded journal. Present broadly on this topic. Talk to multiple audiences, make a case for why the thing you work on reveals everything about everything.

The advice they were giving me was about how they were able to be nimble, relevant and well-funded. I sat and listened closely.

With your microbiology background, you need to find a way to cash in on the human genome craze. Us virologists are going to win a Nobel Prize for it, you know.

They learned over and said, almost under their breath:

This is how we win.


Before this interview, I had never thought about scientific ambition in such organized terms. My scientific mentors until that pointa young physical chemist named Vernon Morris, and bacterial geneticist Susan Gottesmandidnt appear to work that way. That is, while each had their strategies (like all successful scientists do), they didnt describe their scientific ambitions like a military operation: no fields to take over, no one to defeat, nothing to win.

From my vantage point (nave at the time), they seemed to love the ideas, loved working with people, and only wanted to do good in the world (their behaviors reflected that).

My experience with Interviewer Z took place less than a year after the announcement of the completion of the first draft of the human genome. The announcement shook the world but was especially exciting for me because it was something of a local affair. I was working at the National Cancer Institute (NCI) at the time, on the campus of the National Institutes of Health (NIH) in Bethesda, Md. (where the Human Genome Project lived and where I commuted to work, while pursuing my degree at Howard University in nearby Washington, D.C.).

The months that followed the February 2001 announcement would be defined by as much scientific evangelism as you will ever see. The claims? That the completion of a draft of the human genome was our moon landing, our generations moment when we transcended possibility, forever saw the universe in a different light.

But while this hyper-optimism certainly lived in the vapors of the NIH campus, it didnt follow me into the laboratory where I worked.

My advisor, Susan Gottesman, barely spoke of the announcement. Not because she denied its importance, but rather, because she had other things to do and think about.

Her research program almost functioned as the anti-announcement: she studied gene regulation in Escherichia coli, the most unpretentious of model systems. Biology didnt operate further from the spectacle of human biology than the vagaries of E. coli and phage genetics. But these were her instruments, where shed built an international reputation for genetic approaches to understanding how proteins are managed inside of cells, how microbes respond to stressful environments.

Rather than grand statements about what understanding a genome could do in a fight against superbugs across the universe, Gottesman would speak directly about how studying single sets of genes, in a single species of bacteria (E. coli) could tell us about the quirks of microbial metabolism and physiology, how they operated like a board of modules and switches.

So detailed and pure in thought was she that she barely made reference to disease in her work, even though her discoveries absolutely applied to pathogenic organisms (for example, the small regulatory RNAs that she helped to discover in E. coli have now been found to regulate virulence genes in pathogens like Vibrio cholerae).

But her greater gospel, that I learned by osmosis (we didnt talk much about matters not directly about the work), is that the details matter at least as much as the hifalutin concepts do.

This was an important spirit to be around at that time. I was a college activist, who was consuming and reciting big ideas in the genus of social justice (ideas I stand behind, even today). My favorite writers were James Baldwin and Stephen Jay Gould, both authors of bold and beautiful manifestos (even in short essay form).

And it was all of these forces, a nonlinear mix of nature and nurturemy politics, my background (a young, financially disadvantaged African American, raised in a single parent home), and the environments in which my scientific ethics were madethat made me a natural skeptic of big announcements, big pronouncements and scientific grandstanding.

And yes, this included the notion that the draft of the human genome was our moon landing.


After Interviewer Zs advice on how to win, I tried my hand at offering a real response in the form of a question.

Given recent events, did they plan on pivoting away from the study of adenovirus-associated viral vectors for delivering gene therapy? I asked it with a rebellious buzz in my chest, but it was a perfectly reasonable question.

In September 1999, roughly two years before that interview, a young person named Jesse Gelsinger had died while enrolled in a clinical trial for gene therapy run by the University of Pennsylvania. Gelsingers death had a large effect on me: we were close in age, and his death happened less than two years after the release of Gatttaca, a film about a perilous future defined by genetic discrimination.

Since the Gelsinger death, I had noticed a subtle signature of virology programslike the one run by Interviewer Zmigrating away from a gene-therapy focus vectors and into other areas of virus biology.

The brand of gene therapy that had been in voguenear the turn of the millenniumwas one where the corrected form of genes were delivered to the site of interest using viral vectors. Thousands of viruses have evolved machinery to integrate their DNA into their hosts. The logic followed that this aspect of viruses, where they can deliver genes to certain parts of the host genome, could be manipulated for our own goodwe can fix gene variants associated with disease. And after some early promising results, clinical trials were set up to test this in patients.

Gelsinger died during a clinical trial to cure ornithine transcarbamylase deficiency, a genetic condition that he suffered from. After injection with an adenovirus vector, Gelsingers body mounted a large immune response against the virus, which led to a cascade of events culminating in his death.

The Gelsinger death, combined with my personality, experiences and developing ethics, was the reason that the announcement of the completion of the first draft didnt land on me the way it did many others. I had already seen big ideas in science rise and fall.

Twenty years later, I can say that some of my skepticism was poorly founded and misguided. I can proudly admit that almost every field of biology has been irreversibly changed, if not revolutionized, by technology that sprung from that announcement.

We now understand more about the origins of species, the ones that Darwin speculated on, than we ever have.

We have almost real-time outbreak pictures of bacterial and viral genomes creeping through sequence space, sometimes landing on jackpot solutions that facilitate adaptations (but more often landing nowhere, and quite often, off a cliff towards genetic doom).

Genomic technologies driven by the announcement allow us to assess our risk for many important diseases and afflictions.

We can even quantify, to some degree, the magical biodiversity that populates our planet.

The completion of the draft of the human genome helped to democratize the technology, through making genomic sequencing more affordable. You no longer need to study a well-funded human genetic disease in order to afford the tools to sequence and analyze DNA. People who study rainbow trout use genomics. People who study archaea use genomics.

But while some of my young takes might have been sophomoric, others were mature and responsible (even wise).

Among the central messages during the last two decades of genomic science is that the relationship between genotype and phenotype does not function like the pieces of a puzzle. Genes and mutations speak to each other and the environments in which they operate, in surprising ways that defy any existing analogies.

Weve learned that resolving phylogenetic relationships between species and organisms can be a nightmare because biology doesnt operate according to the categories that make it easy to understand. (To put this in perspective, we cant even agree on the very basics, like whether there are two or three domains of life)

Weve learned that genes for disease A often dont cause disease at all. And paradoxically, many people with disease A dont have any identifiable genetic predisposition.

And Homo sapiens? Were an even messier story than we ever predicted: not only are social ideas like race unhelpful for understanding anything essential about the species, they are plainly in the way of a full grasp of the increasingly complex picture of our true origins. Genes from several nonhuman species are peppered throughout our genomes in nontrivial amounts, telling a story of wanderlust and widespread copulation.

As it turns out, my education about the rules of biology over the past two decades has functioned a lot like my education about the rules of real life.

With regard to the latter, there are truths that I can and will hold onto: nice people are great. Greed is bad, and so is racism.

But life isnt that simple.

Because Ive also learned that some people are mean for a reason, greed might happen by accident, and maybe weve all been raised to be bigoted in one way or another. Ive learned the challenge and joy in being empathetic, recognizing our privileges, and dealing with our own biases.

Similarly, DNA is the most fascinating and important string of information in the universe. It tells powerful stories about this bizarre collection of matter that we call life on earth. And it is a privilege to be a part of the species that can study and discuss what it is and how it works.

But it isnt everything. Because life isnt that simple.

And this is what Interviewer Z has since learned. Opportunism around big announcements didnt land them where they hoped. And ironically, the discovery that created the modern face of genetic modification and was awarded a Nobel Prize in 2020CRISPRwas the product of tinkering in microbes in a manner that resembled Susan Gottesmans methods, more than it did Interviewer Zs Art of War tactics.

Months after the interview, I would begin a two-decade-long scientific adventure, where Ive since engaged insect ecology, medicine, biophysics, evolutionary biology and othersalmost entirely (I believe) based on inspiration.

I have landed as an academic who runs my own research program in infectious disease, and am not much younger today than Interviewer Z was at the time of our 2001 interview.

But the advice I give young people today is much different than theirs:

Who the hell knows where the next big discovery will come from? Just hustle and flow, enjoy learning, and ignore the fads and big announcements.

The Human Genome and the Making of a Skeptical Biologist - Scientific American


Breast Cancer Gene Mutations Found in 30% of All Women – Medscape

Monday, February 1st, 2021

New findings of breast cancer gene mutations in women who have no family history of the disease offer a new way of estimating risk and may change the way in which these women are advised on risk management.

The findings come from two large studies, both published on January 20 in The New England Journal of Medicine.

The two articles are "extraordinary" for broadening and validating the genomic panel to help screen women at risk for breast cancer in the future, commented Eric Topol, MD, professor of molecular medicine, Scripps Research, La Jolla, California, and Medscape editor-in-chief.

"Traditionally, genetic testing of inherited breast cancer genes has focused on women at high risk who have a strong family history of breast cancer or those who were diagnosed at an early age, such as under 45 years," commented the lead investigator of one of studies, Fergus Couch, PhD, pathologist at the Mayo Clinic, Rochester, Minnesota.

"[Although] the risk of developing breast cancer is generally lower for women without a family history of the disease...when we looked at all women, we found that 30% of breast cancer mutations occurred in women who are not high-risk," he said.

In both studies, mutations or variants in eight genes BRCA1, BRCA2, PALB2, BARD1, RAD51C, RAD51D, ATM, and CHEK2 were found to be significantly associated with breast cancer risk.

However, the distribution of mutations among women with breast cancer differed from the distribution among unaffected women, notes Steven Narod, MD, from the Women's College Research Institute, Toronto, Ontario, Canada, in an accompanying editorial.

"What this means to clinicians, now that we are expanding the use of gene-panel testing to include unaffected women with a moderate risk of breast cancer in the family history, is that our time will increasingly be spent counseling women with CHEK2 and ATM mutations," he writes. Currently these two are "clumped in with 'other genes'.... [M]ost of the pretest discussion is currently focused on the implications of finding a BRCA1 or BRCA2 mutation."

The new findings may lead to new risk management strategies, he suggests. "Most breast cancers that occur in women with a mutation in ATM or CHEK2 are estrogen receptor positive, so these women may be candidates for anti-estrogen therapies such as tamoxifen, raloxifene, or aromatase inhibitors," he writes.

Narod observes that for now, the management of most women with either mutation will consist of screening alone, starting with MRI at age 40 years.

The medical community is not ready yet to expand genetic screening to the general population, cautions Walton Taylor, MD, past president of the American Society of Breast Surgeons (ASBrS).

The ASBrS currently recommends that all patients with breast cancer as well as those at high risk for breast cancer be offered genetic testing. "All women at risk should be tested, and all patients with pathogenic variants need to be managed appropriately it saves lives," Taylor emphasized.

However, "unaffected people with no family history do not need genetic testing at this time," he told Medscape Medical News.

As to what physicians might do to better manage patients with mutations that predispose to breast cancer, Taylor said, "It's surprisingly easy."

Every genetic testing company provides genetic counselors to guide patients through next steps, Taylor pointed out, and most cancer patients have nurse navigators who make sure patients get tested and followed appropriately.

Members of the ASBrS follow the National Comprehensive Cancer Network guidelines when they identify carriers of a pathogenic variant. Taylor says these are very useful guidelines for virtually all mutations identified thus far.

"This research is not necessarily new, but it is confirmatory for what we are doing, and that helps us make sure we are going down the right pathway," Taylor said. "It confirms that what we think is right is right and that matters," he reaffirmed.

The study led by Mayo's Couch was carried out by the Cancer Risk Estimates Related to Susceptibility (CARRIERS) consortium. It involved analyzing data from 17 epidemiology studies that focused on women in the general population who develop breast cancer. For the studies, which were conducted in the United States, pathogenic variants in 28 cancer-predisposition genes were sequenced from 32,247 women with breast cancer (case patients) and 32,544 unaffected women (control persons).

In the overall CARRIERS analysis, the prevalence of pathogenic variants in 12 clinically actionable genes was 5.03% among case patients and 1.63% among control persons. The prevalence was similar in non-Hispanic White women, non-Hispanic Black women, and Hispanic case patients, as well as control persons, they add. The prevalence of pathogenic variants among Asian American case patients was lower, at only 1.64%, they note.

Among patients who had breast cancer, the most common pathogenic variants included BRCA2, which occurred in 1.29% of case patients, followed by CHEK2, at a prevalence of 1.08%, and BRCA1, at a prevalence of 0.85%.

Mutations in BRCA1 increased the risk for breast cancer more than 7.5-fold; mutations in BRCA2 increased that risk more than fivefold, the investigators state.

Mutations in PALB2 increased the risk of breast cancer approximately fourfold, they add.

Prevalence rates for both BRCA1 and BRCA2 among breast cancer patients declined rapidly after the age of 40. The decline in other variants, including ATM, CHEK2, and PALB2, was limited with increasing age.

Indeed, mutations in all five of these genes were associated with a lifetime absolute risk for breast cancer greater than 20% by the age of 85 among non-Hispanic Whites.

Pathogenic variants in BRCA1 or BRCA2 yielded a lifetime risk for breast cancer of approximately 50%. Mutations in PALB2 yielded a lifetime breast cancer risk of approximately 32%.

The risk of having a mutation in specific genes varied depending on the type of breast cancer. For example, mutations in BARD1, RAD51C, and RAD51d increased the risk for estrogen receptor (ER)negative breast cancer as well as triple-negative breast cancer, the authors note, whereas mutations in ATM, CDH1, and CHEK2 increased the risk for ER-positive breast cancer.

"These refined estimates of the prevalences of pathogenic variants among women with breast cancer in the overall population, as opposed to selected high-risk patients, may inform ongoing discussions regarding testing in patients with breast cancer," the BCAC authors observe.

"The risks of breast cancer associated with pathogenic variants in the genes evaluated in the population-based CARRIERS analysis also provide important information for risk assessment and counselling of women with breast cancer who do not meet high-risk selection criteria," they suggest.

The second study was conducted by the Breast Cancer Association Consortium (BCAC) under lead author Leila Dorling, PhD, University of Cambridge, United Kingdom. This group sequenced 34 susceptibility genes from 60,466 women with breast cancer and 53,461 unaffected control persons.

"Protein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2 and PALB2) were associated with a significant risk of breast cancer overall (P < .0001)," the BCAC members report. "For these genes, odds ratios ranged from 2.10 to 10.57," they add.

The association between overall breast cancer risk and mutations in seven other genes was more modest, conferring approximately twice the risk for breast cancer overall, although that risk was threefold higher for the TP53 mutation.

For the 12 genes the consortium singled out as being associated with either a significant or a more modest risk for breast cancer, the effect size did not vary significantly between European and Asian women, the authors note. Again, the risk forER-positive breast cancer was over two times greater for those who had either the ATM or the CHEK2 mutation. Having mutations in BARD1, BRCA1, BRCA1, PALB2, RAD51C, and RAD51D conferred a higher risk for ER-negative disease than for ER-positive disease.

There was also an association between rare missense variants in six genes CHEK2, ATM, TP53, BRCA1, CDH1, and RECQL and overall breast cancer risk, with the clearest evidence being for CHEK2.

"The absolute risk estimates place protein-truncating variants in BRCA1, BRCA2, and PALB2 in the high-risk category and place protein-truncating variants in ATM, BARD1, CHEK2, RAD51CC, and RAD51D in the moderate-risk category," Dorling and colleagues reaffirm.

"These results may guide screening as well as prevention with risk-reducing surgery or medication, in accordance with national guidelines," the authors suggest.

The CARRIERS study was supported by the National Institutes of Health. The study by Dorling and colleagues was supported by the European Union Horizon 2020 research and innovation programs, among others. Narod has disclosed no relevant financial relationships.

New Eng J Med. Published online January 20, 2021. Couch et al, Abstract; BCAC study, Full text; Editorial

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Breast Cancer Gene Mutations Found in 30% of All Women - Medscape


Mysterious untreatable fevers once devastated whole families. This doctor discovered what caused them – CNN

Monday, February 1st, 2021

They couldn't explain why those afflicted, often in the same family, had recurring fevers, abdominal pain, troublesome rashes and muscle aches. Known as familial Mediterranean fever, the disease often went undiagnosed for years, and it was sometimes fatal.

A similar, but unrelated, mystery fever was initially thought to affect families with Scottish and Irish heritage.

"The pain I felt back then, it moved around. One week the pain was in my leg, and the next week my arm would hurt instead," said Victoria Marklund, 47, a Swedish woman who suffered from TRAPS, or tumor necrosis factor receptor-associated periodic syndrome, a disease first identified in a family of Irish and Scottish descent living in the UK city of Nottingham in 1982.

Her father and grandfather died prematurely from kidney complications, which were likely a consequence of the undiagnosed disorder.

Marklund has now received an effective treatment and lives symptom-free -- largely thanks to the work of one US physician and health researcher, Dr. Dan Kastner, a distinguished investigator at the National Institutes of Health who serves as scientific director of the National Human Genome Research Institute.

"What Dr. Kastner has accomplished is absolutely groundbreaking. The concept of autoinflammatory disorders didn't exist before he identified the cause behind a number of them," said Olle Kmpe, a professor of clinical endocrinology at Karolinska Institutet in Stockholm who is a member of The Royal Swedish Academy of Sciences and chair of the Prize Committee. The academy also selects Nobel laureates.

"His discoveries have taught us a great deal about the immune system and its functions, contributing to effective treatments that reduce the symptoms of disease from which patients previously suffered enormously," Kmpe added.


Kastner first came across familial Mediterranean fever in a patient with recurring arthritis and high fevers he treated as a rheumatology fellow just months into his first job at the NIH in Bethesda, Maryland, in 1985. That chance diagnosis set him on a 12-year journey to find the gene -- or genes -- responsible for the disease.

"It was known that familial Mediterranean fever was a genetic disease. It was known that it was recessively inherited, but no one knew what the gene was, or even the chromosome," he said.

He traveled to Israel, where he took blood samples from 50 families with familial Mediterranean fever.

It took Kastner seven years to locate the mutation to chromosome 16. It took another five years -- in 1997 -- for Kastner and his team to find the mutated gene itself -- one misprint in a genetic code comprised of 3 billion letters.

After this breakthrough, he stayed at NIH, where he studied undiagnosed patients with similar symptoms. He identified 16 autoinflammatory genetic disorders and found effective treatments for at least 12 of them, establishing a whole new field of medicine.

Now that the full human genome has been mapped, the process of detecting the genetic root of such disorders is quicker, and greater numbers of patients with these rare, unexplained diseases are being helped as a result of Kastner's work.


There are few images in science more iconic than the DNA double helix structure, discovered in 1953 by James Watson and Francis Crick, two years after Kastner was born. As a seventh grader, he once created a version of the twisted ladder shape using jelly beans and pipe cleaners for a science fair.

His work to identify the gene that caused familial Mediterranean fever had its own element of competition. In the summer of 1997, to beat a rival team led by French researchers, Kastner took a last-minute flight from Bethesda, Maryland, where the NIH is based, to Boston to submit his manuscript detailing the gene mutation that caused familial Mediterranean fever by hand to the journal Cell on a Friday afternoon.

These were the days before papers could be submitted with the click of a mouse. He hoped to publish his work first. Ultimately, the two teams published their papers simultaneously in different journals -- both fortunately arriving at the same finding.

"I love that type of thing," he said. "We still have races to the finish, and there's nothing like a good week of all-nighters."

Kastner had discovered that the gene involved in familial Mediterranean fever produces a protein called pyrin. Normally this helps to activate our innate immune system -- our first line of defense to fight bacteria and viruses.

In this case, however, pyrin made the innate immune system become overactive, resulting in fever, pain and joint inflammation. He went on to study patients with similar and more devastating symptoms -- identifying TRAPS and many more rare diseases.

Transforming lives

What has motivated Kastner for five decades is how his work decoding the genetics of inflammation can inform new treatments and ultimately transform patients' lives.

"There's nothing more gratifying in life and nothing more satisfying scientifically," he said. He plans to step down from his role as scientific director at the NIH in the next few months and then focus his efforts on his clinic, where he has over 3,000 patients enrolled and "find yet more disease genes, understand how they work, and develop new treatments."

"Of course, one can never know how long that will last, but I love doing it, and will continue as long as I can."

In more recent work beginning in 2014, Kastner identified and pioneered treatment for a severely debilitating genetic disorder known as DADA2, short for deficiency of the enzyme ADA2 (adenosine deaminase 2), which can cause recurring fevers and strokes starting in childhood. His research has radically improved the life of the daughter of Dr. Chip Chambers.

"She's now at college and the improvement in her quality of life has been dramatic."

Similarly, TRAPS survivor Marklund suffered for years before her diagnosis at the age of 38. Her nephews, who both have TRAPS but have been given medicine from an early age, don't feel the effects of the disease at all, she told The Royal Swedish Academy Of Sciences.

"I doubted many times that anyone would ever figure out what I was suffering from. So now it feels fantastic, to be told what it was, to understand the cause of the disease and that there is medicine that helps."

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Mysterious untreatable fevers once devastated whole families. This doctor discovered what caused them - CNN


CCMB team identifies variants of genes that metabolise drugs – BusinessLine

Monday, February 1st, 2021

As India emerges a destination of global choice for clinical trials of various drugs, a study on variants of the gene important for drug metabolism seeks to explore how drugs function across diverse populations.

Dr K Thangaraj and his team from CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, recently published their study of diversity of cytochrome-P450-2C9 (CYP2C9) gene in Pharmacogenomics and Personalized Medicine.

Healthcare is now moving towards personalised medicine. Our studies on the genetic diversity of India will play an important role in this transition, says Dr Rakesh Mishra, Director, CCMB.

The study is important as it seeks to analyse doctor-prescribed dose of drugs based on the gender, age and body mass index (BMI) of patients. However, there are hypersensitive response like rashes, vomiting and nausea.

Individuals in a population have variations in their genes needed for metabolism of a wide range of drugs. Any changes in the sequence of gene may affect the production of protein in human liver. This can cause slower metabolism of a drug and slower or reduced rate of excretion. Many of these drugs have a narrow therapeutic index they are tolerated by human bodies in very specific amounts, according to scientists.

When these drugs are retained in the body for longer, that can lead to toxicity. So, it is important to decide the right dosage for each individual depending on the sequence of their CYP2C9 gene.

Dr Thangarajs team studied the diversity of this gene among 1,488 Indians across 36 population groups, representing different linguistic groups, castes and tribes, among other parameters. They also looked into genes of 1,087 individuals from other countries of South Asia. We found eight new variants of the CYP2C9 gene, making a total of 11 known variants of the gene in South Asia, says Dr Nizamuddin, who is the first author in the study.

They find no correlation between any of these variants with the linguistic and geographical population groups. However, a few Indian populations have more than 20 per cent people with a deleterious variant of the gene. Those with this variant are at a disadvantage in their ability to metabolise drugs. The eight new variants found in this study are also predicted to have similar effect on drug metabolism.

It is important to know the variations in the CYP2C9 gene to help medical practitioners decide the right dosage of medicine for each patient. The knowledge of this variation will also be important for conducting more meaningful clinical trials. This study also suggests that it might not be the best thing to conduct a common clinical trial for the entire world. We need population-specific trials, says Dr Thangaraj, the corresponding author of this paper and presently Director of the Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad.

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CCMB team identifies variants of genes that metabolise drugs - BusinessLine


NeuBase Therapeutics Announces Acquisition of Gene Modulating Technology from Vera Therapeutics – GlobeNewswire

Monday, February 1st, 2021

Acquisition includes intellectual property for peptide nucleic acid genetic medicine portfolio that has demonstrated in vivo activity in several disease indications

Consolidates new peptide nucleic acid technology into NeuBases PATrOL platform

Extends the ability of NeuBases existing technology to directly modulate the human genome with high precision to resolve rare and common diseases, including cancers

PITTSBURGH, Jan. 28, 2021 (GLOBE NEWSWIRE) -- NeuBase Therapeutics, Inc. (Nasdaq: NBSE) ("NeuBase" or the "Company"), a biotechnology company accelerating the genetic revolution using a new class of synthetic medicines to drug the genome, today announced execution of a binding agreement to acquire infrastructure, programs and intellectual property for several peptide-nucleic acid (PNA) scaffolds from Vera Therapeutics, formerly known as TruCode Gene Repair, Inc. The technology has demonstrated the ability to resolve disease in genetic models of several human indications. The acquisition bolsters NeuBases capabilities and reinforces the Companys position as a leader in the field of genetic medicine.

"With this acquisition, we enhance our PATrOL platform, furthering our unique ability to directly engage and correct malfunctioning genes with exquisite precision to address the root causes of a wide variety of human diseases, said Dietrich A. Stephan, Ph.D., Chief Executive Officer of NeuBase. These assets extend and refine our PATrOL platforms capabilities and accelerates, through our Company, to bring the rapidly growing genetic medicines industry toward a single high-impact focal point. We are committed to advancing our pipeline and candidates to the clinic and to exploiting the full potential of PNA technology to continue creating value for our shareholders and importantly, for patients."

Curt Bradshaw, Ph.D., Chief Scientific Officer of NeuBase, added, "By consolidating additional validated technology into our PATrOL platform, we believe NeuBase is positioned to radically transform the landscape of medicine. In vivo activity in a variety of disease indications has been demonstrated with the new scaffolds that we have acquired, and further expands the validated components of our platform to achieve resolution of causality in living systems with target indications such as recently presented in myotonic dystrophy, type 1. In addition to our intellectual property, we believe our in-house expertise in peptide nucleic acids is second to none.

The transaction is expected to close in the first calendar quarter of 2021. Financial terms were not disclosed.

About NeuBase Therapeutics, Inc.NeuBase is leading the genetic revolution using a new class of synthetic medicines. NeuBase's designer PATrOL therapies are centered around its proprietary drug scaffold to address genetic diseases at the source by combining the highly targeted approach of traditional genetic therapies with the broad organ distribution capabilities of small molecules. With an initial focus on debilitating neurological, neuromuscular and oncologic disorders, NeuBase is committed to redefining medicine for the millions of patients with both common and rare conditions. The companys current portfolio of high value programs includes myotonic dystrophy, type 1 and Huntingtons disease. To learn more, visit

Use of Forward-Looking StatementsThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act. These forward-looking statements are distinguished by use of words such as "will," "would," "anticipate," "expect," "believe," "designed," "plan," or "intend," the negative of these terms, and similar references to future periods and include, among other statements, those related to the anticipated benefits of the acquisition of assets from Vera Therapeutics and the expected closing date of the transaction. These views involve risks and uncertainties that are difficult to predict and, accordingly, our actual results may differ materially from the results discussed in our forward-looking statements. Our forward-looking statements contained herein speak only as of the date of this press release. Factors or events that we cannot predict, including those risk factors contained in our filings with the U.S. Securities and Exchange Commission, may cause our actual results to differ from those expressed in forward-looking statements. The Company may not actually achieve the plans, carry out the intentions or meet the expectations or projections disclosed in the forward-looking statements, and you should not place undue reliance on these forward-looking statements. Because such statements deal with future events and are based on the Company's current expectations, they are subject to various risks and uncertainties, and actual results, performance or achievements of the Company could differ materially from those described in or implied by the statements in this press release, including: the risk that the Company does not achieve the anticipated benefits from the acquisition of assets from Vera Therapeutics; risks that the conditions to closing the transaction are not met and the transaction does not close; the Company's plans to develop and commercialize its product candidates; the timing of initiation of the Company's planned clinical trials; the timing of the availability of data from the Company's clinical trials; the timing of any planned investigational new drug application or new drug application; the Company's plans to research, develop and commercialize its current and future product candidates; the clinical utility, potential benefits and market acceptance of the Company's product candidates; the Company's commercialization, marketing and manufacturing capabilities and strategy; global health conditions, including the impact of COVID-19; the Company's ability to protect its intellectual property position; and the requirement for additional capital to continue to advance these product candidates, which may not be available on favorable terms or at all, as well as those risk factors contained in our filings with the U.S. Securities and Exchange Commission. Except as otherwise required by law, the Company disclaims any intention or obligation to update or revise any forward-looking statements, which speak only as of the date hereof, whether as a result of new information, future events or circumstances or otherwise.

NeuBase Investor Contact:Dan FerryManaging DirectorLifeSci Advisors, OP: (617) 430-7576

NeuBase Media Contact:Cait Williamson, Ph.D.LifeSci OP: (646) 751-4366

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NeuBase Therapeutics Announces Acquisition of Gene Modulating Technology from Vera Therapeutics - GlobeNewswire


Copy number variations linked to autism have diverse but overlapping effects – Spectrum

Monday, February 1st, 2021

Mapping outcomes: Some genetic mutations can lead to a wide variety of traits, including those associated with autism.

People with mutations in distant chromosomal regions often share a range of autism traits, even if they do not meet the diagnostic threshold for autism, according to a new study.

Mutations called copy number variations (CNVs) involve duplications or deletions of large stretches of DNA. Having a CNV in the 16p11.2 or 22q11.2 chromosomal region increases a persons likelihood of being diagnosed with autism, but previous studies have found significant variability in the traits associated with mutations in either location.

The new work shows that deletions or duplications in 16p11.2 or 22q11.2 track with distinct profiles of cognitive abilities and autism traits, and that each type of variant is linked to a different probability of being diagnosed with autism.

These profiles overlap, which suggests that the different CNVs have similar impacts on developmental pathways involved with autism, says lead investigator Marianne van den Bree, professor of psychological medicine at Cardiff University in the United Kingdom. The findings also support the idea that other factors such as the environment or other genes shape a persons autism traits.

Van den Bree and her colleagues across eight institutions pooled data from 547 people with a deletion or duplication in 16p11.2 or 22q11.2. They compared the data with similar information from the Autism Genome Project, looking at 2,027 autistic people who do not have these CNVs.

Pulling these datasets together provided an in-depth look at patterns of outcomes. The four groups of people with CNVs a deletion or duplication in either chromosomal region differ the most in motor function, van den Bree and her colleagues found. And people with 22q11.2 deletions are less likely to have an autism diagnosis than those with any of the other CNVs, but they still have a higher autism prevalence than the general population.

People with a duplication in 22q11.2 or 16p11.2 tend to have more severe autism traits than people with deletions, the researchers found. And people with a 16p11.2 duplication or 22q11.2 deletion have greater cognitive impairment than those with one of the other two variants do.

Despite these differences between groups, people within each group show even greater variability, the team found, which suggests that other factors contribute to a persons traits. The work appeared in January in the American Journal of Psychiatry.

These four CNVs have not previously been compared in this way, but the study feels more confirmatory than it feels like its carving out something new, says Elliott Sherr, professor of neurology at University of California, San Francisco, who was not involved in the new work.

Many people, however, including some clinicians, are unaware that these genetic conditions are often linked to autism, says study investigator Samuel Chawner, research fellow in psychology at Cardiff University. He says he hopes that the profiles he and his colleagues identified will inform how genetic conditions are treated. For instance, 54 percent of people carrying one of the CNVs who do not have an autism diagnosis still have significant autism-like difficulties.

Whats missing from the new work is an examination of what else besides the CNVs contributes to the diversity of traits seen in people with these mutations, such as environment and other genes, says David Ledbetter, chief clinical officer at Dascena, a personalized medicine company. Ledbetter was not involved in the study.

For example, people with a 22q11.2 deletion have an increased likelihood of having schizophrenia, but information from the rest of their genome can help to accurately forecast outcomes, according to a study published in November. This same technique could be used to predict traits in people with the other CNVs, Ledbetter says.

A persons environment including their ability to access medical support and early education may also play a role in this variability, Chawner says. Van den Bree, Chawner and their colleagues at the Genes to Mental Health consortium plan to study how these factors in particular contribute to traits in people with CNVs.

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Copy number variations linked to autism have diverse but overlapping effects - Spectrum


Genomes, Maps, And How They Affect You – IFLScience

Monday, February 1st, 2021

What is a genome

A genome is a collective term for all the genetic material within an organism. In essence,the genome decides exactly what that organism will look and act like at birth one huge, expansive instruction manual that tellscells their duties. Every living thing has a genome, from bacteria to plants to humans, and they are all different in size with various combinations of genes inside.

The human genome packs in 30,000 genes, but this is just 1% of the total genetic material contained within. Quite frankly, its a mess in there much of the genetic material is duplicated DNA that (supposedly) does very little, and the vast majority of DNA simply doesnt code for anything(these sections are calledintrons). That isnt to say it does nothing. In fact,recent studieshave shown us that non-coding DNA is essential to controlling whether our genes get switched on or not. However, most of the time its the actual genes that are the important bit.

Studying the genome of humans and other organisms is vitalfor a number of reasons.Firstly, it helps us characterize each one before genomics, scientists simply grouped animals and plants by what they looked like, but research into their genes now allows for accuratecharacterization oforganismsinto specificgeneraand species.

In humans, genomic research has allowed researchers to understand the underlying causes of many complex diseases and find possible targets for treatment.Currently, the best tool to do thisisgenome-wide association studies (GWAS).

The idea behind GWAS is relatively intuitive simply take a group of people with the disease you wish to study, and compare their genomesfor common genetic variants that could predict the presence of that disease.These studies have illuminated a huge number of variants linked with higher disease prevalence while also helping researchers to understand the role each gene playsin the human body.Although powerful, GWAS studies are purely a starting point. Following a large-scale GWAS, researchers must thenanalyzeany variants that are highlighted in great depth, and many times such research will provide nothing of clinical relevance. However, itsstill our best way of identifying risk variants in genetic disease.

So,we know the genome is packed to the brim with genes that code for proteins, separated by large strings ofnon-coding DNA. However, when cells replicateearly in development they usually go throughchromosomal recombination, in which chromosomes trade regions of their genetic code between each other. This spreads genes to many different positions (called loci)throughout the genome. If we can make a map of these genes, we candiscover their function, how they are inherited, or target them with therapies.

Therefore, we want to create a genome map.There are two types of maps used in genomics: genetic maps and physical maps.

Physical mapsare relatively straightforward, in which genomic loci are mapped based on the physical distance between them, measured in base pairs.The most common way to create a physical map of a human genome is byfirst breaking the DNA sequence into many fragments, before using a variety of different techniques to identify how those pieces fit back together. By understanding which pieces overlapand reconstructing the shattered genome, scientists can gain a decently accurate map of where each gene lies.

Genetic mapsare slightly different,using specific marker regions within the DNA that are used as trackers. These mapsrequiresamples (usually saliva) from family members,which are then compared toidentifyhow much recombination has occurred that includes markers of interest. The principle is thatif two genes are close together on thechromosome, thenthey are more likely to travel together through the genome as it recombines. By using this data,scientists can get a rough idea of where specific genes lie on chromosomes. However, it is not as accurate as physical mapping andrelies heavilyon a decentpopulation size andthe number of genetic markers used.

A genome browser is any available database that allows a user to access and compare genomes in an intuitive way. When you map or sequence a genome, the data is prettymessy.Genomes are usually stored in huge files, calledFASTAfiles, that contain extensive strings of letters that would look foreign to most users. Genome browsers take this data and make it accessibleto scientists around the globe.

Many genome browsers are available online, containing bacterial, model organism, and human reference genomes.

Genomelinkis one of the latest examples of public access and analysis of genomes. The industry took off in recentyears, with the rapid rise of sites that provide ancestry and medical information based on genomic sequencing, includingAncestryand23andMe.These sites work by comparing genetic markers associated with different populations should you share specific regions of DNA that correspond with African populations, for example, you may have some relation to African ancestors. Each site uses its own markers, so information may vary between tests, and some have disputed the true accuracy of these tests, although advances in genomics have significantly improved them in recent years.

Genomelinkgoes further than most sites, claiming to provide information on a huge variety of genetic traits that a user may have. These include metabolism, sports performance, and even personality traits such as loneliness. Each trait isdrawn from genome correlation studies, with each taking a specific trait and comparing the genomes of each carrier of that trait.

However, although bothGenomelinkand other sites use up-to-date reference genomes and are usually relatively accurate, they should never be substituted for medical information. If you believe you carry a pathogenic genevariant, you should seek advice from a genomic counselor.

Originally posted here:
Genomes, Maps, And How They Affect You - IFLScience


SMART Study Finds 22q11.2 Microdeletion Prevalence Much Higher than Expected – PRNewswire

Monday, February 1st, 2021

SAN CARLOS, Calif., Feb. 1, 2021 /PRNewswire/ --Natera, Inc. (NASDAQ: NTRA), a pioneer and global leader in cfDNA testing, presented key results from its SMART study at the SMFM 41st Annual Pregnancy Meeting.1 The SMART study sets a new standard as the largest prospective NIPT study to date(N = 20,927 enrolled from 21 medical centers), and the only large-scale study to collect genetic outcomes in most of the subjects. The study includes the validation of a new artificial intelligence-based algorithm for Panoramacalled Panorama AI, which utilizes information from over 2 million cfDNA tests performed by Natera.

Key results related to the 22q11.2 microdeletion:

"This is the first prospective NIPT study in which genetic outcomes were confirmed in the vast majority of the patients enrolled, and provides a wealth of data about the real-world performance of NIPT across a diverse group of global centers and patients," said Mary Norton, MD, Professor, UCSF, and one of the Principal Investigators of SMART. "The findings related to high prevalence of 22q11.2 deletion syndrome, the limited ability of ultrasound to detect all cases prenatally, and the performance of NIPT in detection of these cases with high accuracy provide exciting data to inform discussions around testing for a broader set of conditions beyond common aneuploidies."

"The diagnostic odyssey related to 22q11.2 deletion syndrome is well documented, with median time to diagnosis of almost 5 years.6And in the meantime, a window of opportunity might be lost to intervene and impact outcomes. Delivery of a child with 22q11.2 deletion syndrome should be at a tertiary facility well-equipped to deal with short-term complications that are associated with the disorder.7 Depending on the issue at hand (e.g., cardiac, endocrine), appropriate interventions are warranted. For example, timely administration of neonatal calcium has been shown to correlate with preventing the intellectual decline commonly seen in affected children,"8,9 said Pe'er Dar, MD, Albert Einstein College of Medicine, Bronx NY, and one of the Principal Investigators of SMART. "With the ability to detect more accurately in combination with a low false positive rate, I believe that the findings of the SMART study provide professional societies with sufficient evidence to consider including screening for 22q11.2 deletions in routine prenatal genetic screening."

In 2020, Natera performed over 400,000 tests for the 22q11.2 microdeletion. Natera has established a CPT code and favorable pricing for microdeletion testing. Based on high prevalence and excellent performance in the study, Natera looks forward to engaging professional societies for routine testing of pregnancies for the 22q11.2 microdeletion, and will then pursue broader insurance coverage.

About Panorama

Panoramareveals a baby's risk for severe genetic disorders as early as nine weeks into pregnancy. The test uses a unique single-nucleotide polymorphism (SNP)-based technology to analyze fetal/placental DNA obtained through a blood draw from the mother. It is the only commercially available test that differentiates between maternal and fetal DNA to assess the risk of aneuploidies. The test also screens twin pregnancies for zygosity and fetal sex of each baby, and identifies risk for more genetic conditions in twin pregnancies than any other NIPT. Panorama is one of several genetic screening tests from Natera designed to help families on the path to parenthood. Natera has published 23 papers, studying over 1.3 million patients, since the launch of Panorama the largest body of evidence in the space today. Panorama has been developed and its performance characteristics determined by Natera, the CLIA-certified laboratory performing the test. The test has not been cleared or approved by the US Food and Drug Administration (FDA). CAP accredited, ISO 13485 certified, and CLIA certified.

About Natera

Naterais a pioneer and global leader in cell-free DNA testing from a simple blood draw. The mission of the company is to change the management of disease worldwide with a focus on women's health, oncology, and organ health. Natera operates ISO 13485-certified and CAP-accredited laboratories certified under the Clinical Laboratory Improvement Amendments (CLIA) in San Carlos, California and Austin, Texas. It offers proprietary genetic testing services to inform obstetricians, transplant physicians, oncologists, and cancer researchers, including biopharmaceutical companies, and genetic laboratories through its cloud-based software platform. For more information, Follow Natera onLinkedIn.

Forward-Looking Statements

All statements other than statements of historical facts contained in this press release are forward-looking statements and are not a representation that Natera's plans, estimates, or expectations will be achieved. These forward-looking statements represent Natera's expectations as of the date of this press release, and Natera disclaims any obligation to update the forward-looking statements. These forward-looking statements are subject to known and unknown risks and uncertainties that may cause actual results to differ materially, including with respect to our efforts to develop and commercialize new product offerings, our ability to successfully increase demand for and grow revenues for our product offerings, whether the results of clinical or other studies will support the use of our product offerings, our expectations of the reliability, accuracy and performance of our tests, or of the benefits of our tests and product offerings to patients, providers and payers. Additional risks and uncertainties are discussed in greater detail in "Risk Factors" in Natera's recent filings on Forms 10-K and 10-Q and in other filings Natera makes with the SEC from time to time. These documents are available


Investor Relations: Mike Brophy, CFO, Natera, Inc., 510-826-2350

Media: Paul Greenland, VP of Corporate Marketing, Natera, Inc., [emailprotected]


SOURCE Natera, Inc.

Transforming Management of Genetic Disease

SMART Study Finds 22q11.2 Microdeletion Prevalence Much Higher than Expected - PRNewswire


Are Phages Overlooked Mediators of Health and Disease? – The Scientist

Monday, February 1st, 2021

When microbiologist Breck Duerkop started his postdoc in 2009, he figured hed be focusing on bacteria. After all, hed joined the lab of microbiome researcher Lora Hooper at the University of Texas Southwestern Medical Center in Dallas to study host-pathogen interactions in the mammalian gut and was particularly interested in what causes some strains of normally harmless commensal bacteria, such as Enterococcusfaecalis, to become dangerous, gut-dominating pathogens. Hed decided to explore the issue by giving germ-free mice a multidrug-resistant strain of E. faecalis that sometimes causes life-threatening infections in hospital patients, and analyzing how these bacteria express their genes in the mouse intestine.

Not long into the project, Duerkop noticed something else going on: some of the genes being expressed in E. faecalis werent from the regular bacterial genome. Rather, they were from bacteriophages, bacteria-infecting viruses that, if they dont immediately hijack and kill the cells they infect, can sometimes incorporate their genetic material into the bacterial chromosome. These stowaway viruses, known as prophages while theyre in the bacterial chromosome, may lie dormant for multiple bacterial generations, until certain environmental or other factors trigger their reactivation, at which point they begin replicating and behaving like infectious agents once again. (See illustration below.) Duerkops data showed that the chromosome of the E. faecalis strain he was using contained seven of these prophages and that the bacteria were churning out virus particles with custom combinations of these prophage sequences during colonization of the mouse gut.

The presence of viruses in Duerkops E. faecalis strain wasnt all that surprising. Natural predators of bacteria, bacteriophages are the most abundant biological entities on the planet, and in many fields, researchers take their presence for granted. Nobody really was thinking about phages in the context of bacterial communities in animal hosts, Duerkop says. It would [have been] very easy to just look at it and say, Oh, there are some phage genes here. . . . Moving on. But he was curious about why E. faecalis would be copying and releasing them, rather than leaving the prophages asleep in its chromosome, while it was trying to establish itself in the mouse intestine.

Predation is just one type of phage-bacteria interaction taking place within the mammalian microbiome; many phages are capable of inserting their genomes into the bacterial chromosome.

Encouraged by Hooper, he put his original project on hold in order to dig deeper. To his surprise, he discovered that the E. faecalis strain, known as V583, seemed to be using its phages to gain a competitive advantage over related strains. Experiments with multiple E. faecalis strains in cell culture and in mice showed that the phage particles produced by the bacteria didnt harm other V583 cells, but infected and killed competing strains. Duerkop and his colleagues realized that, far from being background actors in the bacterial community, the phages are important for colonization behavior for this opportunistic pathogen.

The idea that a phage could play such a significant role in the development of the gut bacterial community was relatively novel when the team published its results in 2012. Since then, its been pretty well established that phages can shape the assembly of microbial communities in the intestine, and that can influence the outcome on the hosteither beneficially or detrimentally, says Duerkop, who now runs his own lab at the University of Colorado School of Medicine in Aurora. Theres evidence that phages help bacteria share genetic material with one another, too, and may even interact directly with the mammalian immune system, an idea that Duerkop says would have had you laughed out of a room of immunologists just a few years ago.

Around the time that Duerkop was working on E. faecalis in Dallas, University of Oxford postdoc Pauline Scanlan was studying Pseudomonas fluorescens, a bacterial species that is abundant in the natural environment and is generally harmless to humans, although its in the same genus as the important human pathogen Pseudomonas aeruginosa. Bacteria in this genus sometimes evolve whats known as a mucoid phenotypethat is, cells secrete large amounts of a compound called alginate, forming a protective goo around themselves. In P. aeruginosa, this goo can help the bacteria evade the mammalian immune system and antibiotics, and when it crops up, its not good news for the patient, Scanlan says. She was curious about what causes a non-mucoid bacterial population to evolve into a mucoid one and had found previous research suggesting that the presence of bacteriophages could play a role. Other studies documented high densities of phages in mucus samples from the lungs of some cystic fibrosis patients with P. aeruginosa infections.

Working in the lab of evolutionary biologist Angus Buckling (now at the University of Exeter), Scanlan grew a strain of P. fluorescenswith a phage called Phi2 that specifically infects and destroys this bacterium. Cells with the gummy mucoid coating, the researchers noted, were more resistant to phage infection than regular cells were. Whats more, over generations, bacterial populations were more likely to evolve the mucoid phenotypes in the presence of Phi2 than they were in its absence, indicating that the phenotype may arise in Pseudomonas as an adaptive response to phage attack. Scanlan, now at University College Cork (UCC) in Ireland, notes that more work is needed to extend the findings to a clinical setting, but the results hint that phages could in some cases be responsible for driving bacteria to adopt more virulent phenotypes.

Such a role for viruses in driving bacterial evolution fits well with phages reputation as the ultimate predators, says Colin Hill, a molecular microbiologist also at UCC who got his introduction to phages studying bacteria used in making fermented foods such as cheese. Hill notes an estimate commonly cited in the context of marine biologya field that explored phage-bacteria interactions long before human biology didthat phages kill up to 50 percent of the bacteria in any environment every 48 hours. The thing that any bacterium has on its mind most, if bacteria had minds, would be phage, Hill says, because its the thing most likely to kill them.

Several in vivo animal studies lend support to the idea that predatory phages help shape bacterial evolution and community composition in the mammalian microbiome. In 2019, for example, researchers at Harvard Medical School reported that phages not only directly affect the bacteria they infect in the mouse gut, but also influence the rest of the microbiome community via cascading effects on the chemical and biological composition of the gut. Observational studies hint at similar processes at work in the human gut. A few years ago, researchers at Washington University Medical School in St. Louis observed patterns of phage and bacterial population dynamics that resembledpredator-prey cycles in the guts of children younger than two years old: low bacterial densities at birth were followed by decreases in phages, after which the bacteria would rebound, and then the phages would follow suit. The team concluded that these cycles were likely a natural part of healthy microbiome development.

Although researchers are only just beginning to appreciate the importance of phages in microbiome dynamics, theyve already begun to explore links to human disease. Authors of one 2015 study reported that Crohns disease and ulcerative colitis patients showed elevated levels of certain phages, particularly within the viral order Caudovirales. They proposed that an altered virome could contribute to pathogenesis through predator-prey interactions between phages and their bacterial hosts. Other studies have explored possible phage-driven changes in the bacterial community in human diseases such as diabetes and certain cancers that are known to be associated with a disrupted microbiome. But the observational nature of human microbiome studies prevents conclusions about what drives whatchanges in virome composition could themselves be the result of disruptions to the bacterial community, for example.

Currently, researchers are exploring the possibility of using predatory phages as weapons against pathogenic bacteria, particularly those that present a serious threat to public health due to the evolution of resistance to multiple antibiotics. Its the principle that the enemy of my enemy is my friend, says Yale University virologist and evolutionary biologist Paul Turner. If we have a pathogen that is in your microbiome, can we go in and remove that bacterial pathogen by introducing a predatory phage, something that is cued to only destroy [that pathogen]? Although the strategy was first proposed more than a century ago, we and others are trying to update it, he adds. (See My Enemys Enemy below.)

Phages can interact with bacteria in two main ways. In the first, phages infect a bacterial cell and hijack that cells protein-making machinery to replicate themselves, after which the newly made virus particles lyse the bacterium and go on to infect more cells. In the second process, known as lysogeny, the viral genome is incorporated into the bacterial chromosome, becoming whats known as a prophage, and lies dormantpotentially for many generationsuntil certain biotic or abiotic factors in the bacterium or the environment induce it to excise itself from the chromosome and resume the cycle of viral replication, lysis, and infection of new cells.

Predation is just one type of phage-bacteria interaction taking place within the mammalian microbiome. Many phages are capable of inserting their genomes into the bacterial chromosome, a trick beyond the bounds of traditional predator-prey relationships in other kingdoms of life that adds complexity to the relationship between phages and bacteria, and consequently, to phages potential influences on human health.

This role for phages has long been of interest to Imperial College Londons Jos Penads. Over the last 15 years or so, he and colleagues have described various ways in which many phages help bacteria swap genetic material among cells. He likens phages to cars that bacteria use to transport cargo around and says that, in his opinion, it almost makes sense to view phages as an extension of bacteria rather than as independent entities. This is part of the bacterium, he says. Without phages, bacteria cannot really evolve. They are absolutely required.

With lateral [transduction] you can move huge parts of the bacterial chromosome.

Jos Penads, Imperial College London

In the simplest case, the genetic material being transported consists of viral genes in the genomes of so-called temperate phages, which spend at least part of their lifecycle stashed away in bacterial chromosomes as prophages. These phages are coming to be appreciated by microbiologists as an important driver of bacterial evolution in the human microbiome, notes Hill. The lack of practical and accurate virus detection methods makes it difficult to precisely characterize a lot of the phages resident in mammalian guts, but microbiologists estimate that up to 50 percent are temperate phages, and, more importantly for human health, that many of them may carry genes relevant to bacterial virulence. Researchers have long known, for example, that many toxins produced by bacteriaincluding Shiga toxin, made by some pathogenic E. coli strains, and cholera toxin, secreted by the cholera-causing bacterium Vibrio choleraeare in fact encoded by viral genes contained in the bacterial chromosome, and that infection by temperate phages that carry these genes may be able to turn a harmless bacterial population into one thats pathogenic.

Evidence from other studies points to phages as capable of transporting not just their own genomes, but bits of bacterial DNA as well. In the best-studied examples of this phenomenon, known as bacterial transduction, tiny chunks of the bacterial genome get packed up into viral particles instead of or alongside the phage genome, and are shuttled to other bacterial cells. In 2018, however, Penads and colleagues presented results showing that very large pieces of bacterial DNA can also be exchanged this way, in a process the team named lateral transduction. Not only does the discovery have implications for how researchers understand viral replication in infected cells, it shines light on a novel way for bacteria to share their genes. With lateral [transduction] you can move huge parts of the bacterial chromosome, says Penads. The team first observed the phenomenon in the important human pathogen Staphylococcus aureus, and is now looking for it in other taxa, he adds. Right now, for us, its important to show that its a general mechanism, with many bugs involved.

Although the research is still in the nascent stages, this mechanism could help explain findings from University of Barcelona microbiologist Maite Muniesa and others who have been studying whether phages transport antibiotic resistance genes between bacterial cells, and whether they can act as reservoirs for these genes in the natural environment. Early studies on this issue had proposed that, like many toxin genes, antibiotic resistance genes might be encoded in viral sequences and thus transported to bacteria with the rest of the viral genome. But the idea wasnt without controversya 2016 analysis of more than 1,100 phage genomes from various environments concluded that phage genomes only rarely include antibiotic resistance genes. That studys authors argued that prior reports of these genes in phage genomes were likely due to contamination, or to the difficulty of distinguishing viral sequences from bacterial ones.

Nevertheless, Muniesas team has published multiple reports of antibiotic resistance sequences in phage particles, including in samples of meat products from a Barcelonan fresh-food retailer, and more recently in seawater samplesnot only from the Mediterranean coastline but even off the coast of Antarctica, far from human populations that use antibiotics. We were pretty surprised that we found these particles in this area with low human influence, Muniesa says. Although her team hasnt determined whether the antibiotic resistance sequences are of phage or bacterial origin, she suspects they might be bacterial genes that ended up in phage particles during lateral transduction or some process like it. Bacteria are using these phage particles in a natural way to move [genes] between their brothers and sisters, lets say, she says. Its happening everywhere.

Duerkop cautions that its not yet clear how often phage-mediated transfer of antibiotic resistance genes occurs or how significant it is in the epidemiology of drug-resistant infections in people. Its not to say that antibiotic resistance cant be mediated through phage, he says. I just dont think its a major driver of antibiotic resistance.

Whatever its natural role, temperate phages ability to insert themselves into bacterial genomes could have applications in new antibacterial therapies. Viruses that insert pathogenicity-reducing genes or disrupt the normal expression of the bacterial chromosome could be used to hobble dangerous bacteria, for examplean approach that proved successful last year in mouse experiments with Bordetella bronchiseptica, a bacterium that often causes respiratory diseases in livestock. Using a phage from the order Siphoviridae, researchers found that infected B. bronchiseptica cells were substantially less virulent in mice than control cells were, likely because the viral genome had inserted itself in the middle of a gene that the bacterium needs to infect its host. Whats more, injecting mice with the phage before exposing them to B. bronchiseptica seemed to completely protect them from infection by the microbe, hinting at the possibility of using temperate phages as vaccines against some bacteria.

Bacteria-infecting viruses, or bacteriophages, may influence microbial communities in the mammalian gut in various ways, some of which are illustrated here. Through predation, phages can influence the abundance of specific bacterial taxa, with indirect effects on the rest of the community, and can drive the evolution of specific bacterial phenotypes. Phages can also incorporate their genomes into bacterial chromosomes, where the viral sequences lie dormant as prophages until reactivated. Researchers have found that phages interact directly with mammalian cells in the gut, too. These cross-kingdom interactions could affect the health of their eukaryotic hosts.

Despite growing interest in phages role in shuttling material among bacteria, some of the biggest recent developments in research on phages in the human gut have turned out not to involve bacteria at all. One of the key pieces of this particular puzzle was fitted by University of Utah microbiologist June Round and her colleagues, who as part of a phage therapy study a few years ago fed several types of Caudovirales phages to mice that were genetically predisposed to certain types of cancer and had been infected with a strain of E. coli known to increase that risk. The premise was pretty simplistic, recalls Round. It was just to identify a cocktail of phage that would target bacteria that we know drive chronic colorectal cancer.

The team was surprised to see that the phages, despite being viewed by most researchers as exclusively bacteria-attacking entities, prompted a substantial response from the mices immune systemsmammalian defenses that should, according to conventional wisdom, be indifferent to the war between bacteria and phages in the gut. Intrigued, the researchers tried adding their phage cocktail to mice that had had their gut bacteria completely wiped out with antibiotics. Still, they saw an immune response. It was then, Round says, that we realized that [the phages] were likely interacting with the immune system.

Exploring further, the team found that the phages were activating both innate and adaptive immune responses in mice. In rodents with colitis, the phages exacerbated inflammation. Turning their attention to people, the researchers isolated phages from ulcerative colitis patients with active disease, as well as from patients with disease in remission and from healthy controls, and showed that only viruses collected from patients with active disease stimulated immune cells in vitro. And when the team studied patients who received fecal microbiota transplantationan experimental treatment for ulcerative colitis that involves giving beneficial gut bacteria to a patient to try to alleviate inflammation and improve symptomsthe researchers found that a lower abundance of Caudovirales in a recipients intestine at the time of transplant correlated with treatment success.

Some of the biggest recent developments in research on phages in the human gut have turned out not to involve bacteria at all.

By the time the team published its results in 2019, a couple of other groups had also documented evidence of direct interactions between phages and host immune systems. Meanwhile, Duerkop, Hooper, and colleagues reported that mice with colitis tended to have specific bacteriophage communities, rich in Caudovirales, that developed in parallel with the disease. Many of the types of phage they identified in the intestines of those diseased mice also turned up in high abundance in samples taken from the guts of people with inflammatory bowel disease, the researchers noted in their paper, supporting a possible role for phages in the development of disease.

Round says that researchers are still unsure about exactly why these trans-kingdom interactions are happeningparticularly when it comes to host adaptive immune responses, which tend to be specific to a particular pathogen. She speculates that mammalian hosts might derive a benefit from destroying certain phages if those phages are carrying genes that could aid a bacterium with the potential to cause disease. Exactly how immune cells would detect what genes a phage is carrying isnt yet clear.

Meanwhile, hints of collaboration between eukaryotic cells and phages have cropped up in the work of several other labs. One recent study of a phage therapy against P. aeruginosa found that phages and immune cells seem to act in synergy to clear infections in mice. Other work has indicated that phages bind to glycoproteins presented by cells along the mucosal surfaces of the mammalian gut and may provide a protective barrier against bacterial pathogensa relationship that some microbiologists have argued represents an example of phage-animal symbiosis. Duerkop adds that theres evidence emerging to support the idea that phages in the mammalian intestine not only can be engulfed by certain eukaryotic cells, but also might slip out of the gut and into the bloodstream to make their way to other parts of the body, with as yet undiscovered consequences.

Whether these mechanisms can be exploited for therapeutic purposes remains to be seen, but Round notes that they do raise the possibility of unintended effects in some circumstances if researchers try to use phages to influence human health via the gut microbiome. At least in the type of chronic inflammatory diseases she and her team have been studying, we might just be making it worse by using phages to target disease-causing bacteria, she says, adding that all research groups studying such approaches should take into account potential knock-on effects. Considering phages multiple interactions, with both bacteria and animal cells, she says, its a lot more complex than what wed appreciated.

Bacteriophages ability to selectively target and kill specific bacterial strains has long been recognized as a possible basis for antimicrobial therapies. Proposed by researchers in Europe as early as 1919, phage therapy went on to be widely promoted in Germany, the USSR, and elsewhere before being overtaken worldwide by the soaring popularity of antibiotics in the 1940s. But the strategy has come back into fashion among many microbiologists, thanks to the growing public health problem of antibiotic resistance in bacterial pathogens and to the rapidly improving scientific understanding of phage-bacteria interactions.

Some of the latest approaches aim not only to target specific bacteria with phages, but also to avoid (or exploit) the seemingly inevitable evolution of phage resistance in those bacteria. One way researchers try to do this is by taking advantage of an evolutionary trade-off: bacterial strains that evolve adaptations to one therapy will often suffer reduced fitness when confronted with a second therapy, perhaps one that targets the same or similar pathways in a different way.

Yale University virologist and evolutionary biologist Paul Turner, for example, has studied how phages in the Myoviridae (a family in the order Caudovirales) can promote antibiotic sensitivity in the important human pathogen Pseudomonas aeruginosa. Turner and colleagues showed a few years ago that one such phage binds to a protein called OprM in the bacterial cell membrane, and that bacterial populations under attack from these phages will often evolve reduced production of OprM proteins as a way of avoiding infection. However, OprM also happens to be important for pumping antibiotics out of the cell, such that abnormal OprM levels can reduce bacterias abilityto survive antibiotic treatment in vitro.

A handful of groups have published case studies using this kind of approach, known as phage steering, in humans. A couple years ago, for example, Turner and colleagues reported that a post-surgery patients chronicP. aeruginosa infection cleared up after treatment with the OprM-binding phage and the antibiotic ceftazidime. Researchers at the University of California, San Diego, in partnership with California-based biotech AmpliPhi Biosciences (now Armata Pharmaceuticals), reportedsimilar successin a cystic fibrosis patient with a P. aeruginosa infection who was treated with a mixture of phages and with antibiotics. A Phase 1/2 trial for that therapy was greenlighted by the US Food and Drug Administration last October.

The complexity of the relationship between phages and bacteria, not to mention recently discovered interactions between phages and eukaryotic cells, has many researchers tempering optimism about phage therapy with caution. There might be off-target effects to this that we hadnt really thought about, says University of Colorado School of Medicine microbiologist Breck Duerkop. That said, thanks to research in the last few years, the black veil on phage therapy is, I believe, being lifted, he adds, which Im really excited about because I think they have a ton of potential to be used in biomedicine.

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Are Phages Overlooked Mediators of Health and Disease? - The Scientist


When Your Chance for a Covid Shot Comes, Dont Worry About the Numbers – Kaiser Health News

Monday, February 1st, 2021

Arthur Allen and Liz Szabo, Kaiser Health NewsUse Our Content

It can be republished for free.

When getting vaccinated against covid-19, theres no sense being picky. You should take the first authorized vaccine thats offered, experts say.

The newest covid vaccine on the horizon, from Johnson & Johnson, is probably a little less effective at preventing sickness than the two shots already being administered around the United States, from Pfizer-BioNTech and Moderna. On Friday, Johnson & Johnson announced that, in a 45,000-person trial, its vaccine was about 66% effective at preventing moderate to severe covid illness. No one who received the vaccine was hospitalized with or died of the disease, according to the company, which said it expected to seek Food and Drug Administration authorization as early as this week. If the agency authorizes use of the vaccine, millions of doses could be shipped out of J&Js warehouses beginning in late February.

The J&J vaccine is similar to the shots from Moderna and Pfizer-BioNTech but uses a different strategy for transporting genetic code into human cells to stimulate immunity to the disease. The Moderna and Pfizer-BioNTech vaccines were found in trials last fall to be 94% effective against confirmed covid. They also prevented nearly all severe cases.

But the difference in those efficacy numbers may be deceptive. The vaccines were tested in different locations and at different phases of the pandemic. And J&J gave subjects in its trial only one dose of the vaccine, while Moderna and Pfizer have two-dose schedules, separated by 28 and 21 days, respectively. The bottom line, however, is that all three do a good job at preventing serious covid.

Its a bit like, do you want a Lamborghini or a Chevy to get to work? said Dr. Gregory Poland, director of the Mayo Clinics Vaccine Research Group. Ultimately, I just need to get to work. If a Chevy is available, sign me up.

So while expert panels may debate in the future about which vaccine is best for whom, from a personal and public health perspective, the best advice for now is to get whatever you can as soon as you can get it, because the sooner we all get vaccinated the better off we all are, said Dr. Norman Hearst, a family doctor and epidemiologist at the University of California-San Francisco.

Here are five reasons experts say you should take the J&J shot assuming the FDA authorizes it if its the one thats offered to you first:

1. All three vaccines protect against hospitalization and death.

Of the 10 cases of severe disease in the Pfizer trial, nine received a placebo, or fake vaccine, and none of the 30 severe cases in the Moderna trial occurred in people who got the true vaccine. Johnson & Johnson did not release specific numbers but said none of the vaccinated patients were hospitalized or died. The real goal is to keep people out of the hospital and the ICU and the morgue, said Dr. Paul Offit, director of the Vaccine Education Center at Childrens Hospital of Philadelphia. This vaccine will do that well.

2. The efficacy levels could be a case of apples and oranges.

The data that Moderna and Pfizer-BioNTech presented to the FDA for their vaccines came from large clinical trials that took place over the summer and early fall in the United States. At the time, none of the new variants of covid some of which may be better at evading the immune responses produced by vaccines were circulating here. In contrast, the J&J trial began in September and was put into the arms of people in South America, South Africa and the United States.

Newly widespread variants in Brazil and South Africa appear somewhat better at evading the vaccines defenses, and its possible a new variant in California where many J&J volunteers were enrolled may also have that trait. The J&J vaccine was 72% effective against moderate to severe covid in the U.S. part of the trial, compared with 57% in South Africa, where a more contagious mutant virus is the dominant strain. Another vaccine, made by the Maryland company Novavax, had 90% efficacy in a large British trial, but only about 50% in South Africa. The Moderna and Pfizer-BioNTech vaccines might not have gotten the same sparkling results had they been tested more recently or in South Africa.

This vaccine was tested in the pandemic here and now, said Dr. Dan Barouch, a Harvard Medical School professor whose lab at the Center for Virology and Vaccine Research at Beth Israel Deaconess Medical Center in Boston developed the J&J vaccine. The pandemic is a much more complex pandemic than it was several months ago.

Some of that difference in performance also could be attributable to different patient populations or disease conditions, and not just the mutant virus. A large percentage of South Africans carry the human immunodeficiency virus, or HIV. Chinese vaccines have performed wildly differently in countries where they were tested in recent months.

We dont know which vaccines are the Lamborghinis, Poland said, because these arent true head-to-head comparisons.

3. Speed is of the essence.

To stop the spread of covid, the mutation of the virus that causes it and the continued pummeling of the economy, we all need to be vaccinated as quickly as possible. The inadequate supply of vaccines has been felt acutely.

Dr. Virginia Banks 103-year-old mother is one of the few living Americans who were around for the countrys last great pandemic the 1918 influenza yet shes been unable to get a covid vaccination, said Banks, a physician with Northeast Ohio Infectious Disease Associates in Youngstown.

Patients cant be picky about which vaccine they accept, Banks said. People need to get vaccinated with the vaccines out today so we can get closer to herd immunity to slow the spread of the virus.

Banks has worked hard to promote covid vaccines to skeptical minority communities, frequently appearing on local TV news and making at least two presentations by Zoom each week. Blacks to date have been vaccinated against covid at much lower rates than whites.

Theres a downside to waiting, said Dr. William Schaffner, a professor of preventive medicine and health policy at Vanderbilt University Medical Center. Delaying vaccination carries serious risks, given that more than 3,800 Americans have been dying every day of covid.

4. The J&J vaccine appears to have some real advantages.

First, it seems to cause fewer serious side effects like the fever and malaise suffered by some Pfizer-BioNTech and Moderna vaccine recipients. High fever and dehydration are particular concerns in fragile elderly people who have one foot on the banana peel, said Dr. Kathryn Edwards, scientific director of the Vanderbilt Vaccine Research Program. The J&J vaccine may be a better vaccine for the infirm.

Many people may also prefer the J&J shot because its one and done, Schaffner said. Easier for administrators too: just one appointment to schedule.

5. The J&J vaccine is much easier to ship, store and administer.

While the Johnson & Johnson vaccine can be stored in regular refrigerators, the Pfizer-BioNTech vaccine must be kept long-term in ultra-cold freezers at temperatures between minus 112 degrees and minus 76 degrees Fahrenheit, according to the Centers for Disease Control and Prevention.

Both the Moderna and Pfizer-BioNTech vaccines must be used or discarded within six hours after the vial is opened. Vials of the J&J vaccine can be stored in a refrigerator and restored for later use if doses remain. Right now we have mass immunization clinics that are open but have no vaccine, said Offit. Here you have a single-dose regime with easy storage and handling.

A persons address not their personal preference may determine which vaccine they receive, said E. John Wherry, director of the Institute for Immunology at the University of Pennsylvanias Perelman School of Medicine. He pointed out that the Johnson & Johnson vaccine is a simpler choice for rural areas.

A vaccine doesnt have to be 95% effective to be an incredible leap forward, said Wherry. When we get to the point where we have choices about which vaccine to give, it will be a luxury to have to struggle with that question.

This story was produced by KHN, which publishes California Healthline, an editorially independent service of the California Health Care Foundation.

Kaiser Health News (KHN) is a national health policy news service. It is an editorially independent program of the Henry J. Kaiser Family Foundation which is not affiliated with Kaiser Permanente.

This story can be republished for free (details).

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When Your Chance for a Covid Shot Comes, Dont Worry About the Numbers - Kaiser Health News


Global CRISPR Gene Editing Market: Focus on Products, Applications, End Users, Country Data (16 Countries), and Competitive Landscape – Analysis and…

Monday, February 1st, 2021

New York, Feb. 01, 2021 (GLOBE NEWSWIRE) -- announces the release of the report "Global CRISPR Gene Editing Market: Focus on Products, Applications, End Users, Country Data (16 Countries), and Competitive Landscape - Analysis and Forecast, 2020-2030" - Application Agricultural, Biomedical (Gene Therapy, Drug Discovery, And Diagnostics), Industrial, and Other Applications [Genetically Modified Foods (GM Foods), Biofuel, And Animal (Livestock) Breeding] End-User - Academic Institutes and Research Centers, Biotechnology Companies, Contract Research Organizations (CROs), and Pharmaceutical and Biopharmaceutical Companies

Regional Segmentation

North America U.S., Canada Europe Germany, France, Italy, U.K., Spain, Switzerland, and Rest-of-Europe Asia-Pacific China, Japan, India, South Korea, Singapore, Australia, and Rest-of-Asia-Pacific (RoAPAC) Latin America Brazil, Mexico, and Rest-of-the-Latin America Rest-of-the-World

Growth Drivers

Prevalence of Genetic Disorders and Use of Genome Editing Government and Private Funding Technology Advancement in CRISPR Gene Editing

Market Restraints

CRISPR Gene Editing: Off Target Effects and Delivery Ethical Concerns and Implications with Respect to Human Genome Editing

Market Opportunities

Expanding Gene and Cell Therapy Area CRISPR Gene Editing Scope in Agriculture

Key Companies ProfiledAbcam, Inc., Applied StemCell, Inc., Agilent Technologies, Inc., Cellecta, Inc., CRISPR Therapeutics AG, Thermo Fisher Scientific, Inc., GeneCopoeia, Inc., GeneScript Biotech Corporation, Horizon Discovery Group PLC, Integrated DNA Technologies, Inc., Merck KGaA, New England Biolabs, Inc., Origene Technologies, Inc., Rockland Immunochemicals, Inc., Synthego Corporation, System Biosciences LLC, ToolGen, Inc., Takara Bio

Key Questions Answered in this Report: What is CRISPR gene editing? What is the timeline for the development of CRISPR technology? How did the CRISPR gene editing market evolve, and what is its scope in the future? What are the major market drivers, restraints, and opportunities in the global CRISPR gene editing market? What are the key developmental strategies that are being implemented by the key players to sustain this market? What is the patent landscape of this market? What will be the impact of patent expiry on this market? What is the impact of COVID-19 on this market? What are the guidelines implemented by different government bodies to regulate the approval of CRISPR products/therapies? How is CRISPR gene editing being utilized for the development of therapeutics? How will the investments by public and private companies and government organizations affect the global CRISPR gene editing market? What was the market size of the leading segments and sub-segments of the global CRISPR gene editing market in 2019? How will the industry evolve during the forecast period 2020-2030? What will be the growth rate of the CRISPR gene editing market during the forecast period? How will each of the segments of the global CRISPR gene editing market grow during the forecast period, and what will be the revenue generated by each of the segments by the end of 2030? Which product segment and application segment are expected to register the highest CAGR for the global CRISPR gene editing market? What are the major benefits of the implementation of CRISPR gene editing in different field of applications including biomedical research, agricultural research, industrial research, gene therapy, drug discovery, and diagnostics? What is the market size of the CRISPR gene editing market in different countries of the world? Which geographical region is expected to contribute to the highest sales of CRISPR gene editing market? What are the reimbursement scenario and regulatory structure for the CRISPR gene editing market in different regions? What are the key strategies incorporated by the players of global CRISPR gene editing market to sustain the competition and retain their supremacy?

Market OverviewThe development of genome engineering with potential applications proved to reflect a remarkable impact on the future of the healthcare and life science industry.The high efficiency of the CRISPR-Cas9 system has been demonstrated in various studies for genome editing, which resulted in significant investments within the field of genome engineering.

However, there are several limitations, which need consideration before clinical applications.Further, many researchers are working on the limitations of CRISPR gene editing technology for better results.

The potential of CRISPR gene editing to alter the human genome and modify the disease conditions is incredible but exists with ethical and social concerns. The global CRISPR gene editing market was valued at $846.2 million in 2019 and is expected to reach $10,825.1 million by 2030, registering a CAGR of 26.86% during the forecast.

The growth is attributed to the increasing demand in the food industry for better products with improved quality and nutrient enrichment and the pharmaceutical industry for targeted treatment for various diseases. Further, the continued significant investments by healthcare companies to meet the industry demand and growing prominence for the gene therapy procedures with less turnaround time are the prominent factors propelling the growth of the global CRISPR gene editing market.

Research organizations, pharmaceutical and biotechnology industries, and institutes are looking for more efficient genome editing technologies to increase the specificity and cost-effectiveness, also to reduce turnaround time and human errors.Further, the evolution of genome editing technologies has enabled wide range of applications in various fields, such as industrial biotech and agricultural research.

These advanced methods are simple, super-efficient, cost-effective, provide multiplexing, and high throughput capabilities. The increase in the geriatric population and increasing number of cancer cases, and genetic disorders across the globe are expected to translate into significantly higher demand for CRISPR gene editing market.

Furthermore, the companies are investing huge amounts in the research and development of CRISPR gene editing products, and gene therapies. The clinical trial landscape of various genetic and chronic diseases has been on the rise in recent years, and this will fuel the CRISPR gene editing market in the future.

Within the research report, the market is segmented based on product type, application, end-user, and region. Each of these segments covers the snapshot of the market over the projected years, the inclination of the market revenue, underlying patterns, and trends by using analytics on the primary and secondary data obtained.

Competitive LandscapeThe exponential rise in the application of precision medicine on a global level has created a buzz among companies to invest in the development of novel CRISPR gene editing. Due to the diverse product portfolio and intense market penetration, Merck KGaA, and Thermo Fisher Scientific Inc. have been the pioneers in this field and have been the major competitors in this market. The other major contributors of the market include companies such as Integrated DNA Technologies (IDT), Genscript Biotech Corporation, Takara Bio Inc, Agilent Technologies, Inc., and New England Biolabs, Inc.

Based on region, North America holds the largest share of CRISPR gene editing market due to substantial investments made by biotechnology and pharmaceutical companies, improved healthcare infrastructure, rise in per capita income, early availability of approved therapies, and availability of state-of-the-art research laboratories and institutions in the region. Apart from this, Asia-Pacific region is anticipated to grow at the fastest CAGR during the forecast period.

Countries Covered North America U.S. Canada Europe Germany Italy France Spain U.K. Switzerland Rest-of-Europe Asia-Pacific China India Australia South Korea Singapore Japan Rest-of-Asia-Pacific Latin America Brazil Mexico Rest-of-Latin America Rest-of-the-WordRead the full report:

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Global CRISPR Gene Editing Market: Focus on Products, Applications, End Users, Country Data (16 Countries), and Competitive Landscape - Analysis and...


The First Targeted Therapy For Lung Cancer Patients With The KRAS Gene MutationExtraordinary Results With Sotorasib – SurvivorNet

Monday, February 1st, 2021

First Targeted Therapy For Lung Cancer With KRAS

For the first time, there may be an effective treatment option for people with lung cancer that contains a genetic mutation called KRAS. The results of a groundbreaking using a drug calledSotorasib have just been published in the highly-respected New England Journal of Medicine.

Dr. Roy Herbst, Chief of Medical Oncology at Yale tells SurvivorNet We are excited we have a drug that could work in these patients. The fact that tumors respond to this therapy is a big deal.

Lung cancer remains the leading cause of cancer death in the united states. The most common form of lung cancer, non-small cell lung cancer (NSCLC), has recently seen major advancements with new treatments such as immunotherapy and targeted therapies extending the lives of thousands of patients. However, despite these recent advancements little has been available to help patients who have lung cancer with a KRAS mutation. This mutation is found in approximately 10-12% of patients with NSCLC and any drug that can improve the outlook for these patients would be a game-changer for lung cancer.

Now we finally have targeted therapy options for these patients.

In patients who have advanced stage or metastatic NSCLC most patients will have their tumor tested for genetic abnormalities or biomarkers to help their doctors select what treatments are best. Some common biomarkers such as EGFR and PDL1 have medications that doctors can use to target the lung cancer and improve a patients survival and quality of life. Despite this, one biomarker that has never had a treatment is KRAS. KRAS is a mutation that occurs in some patients with NSCLC and is generally associated with poor outcomes. One reason this mutation is considered a bad risk factor is that unlike other mutations such as EGFR there has never been a drug approved to treat this type of lung cancer.

Fortunately, for patients, this may be changing soon. A new drug called Sotorasib that specifically targets the KRAS mutation recently showed positive results in the early phase CODEBREAK 100 study. Based on the results from the early phase study Sotorasib was granted Break Through Therapy Designation and the drug has been accepted into the Real-Time Oncology Pilot Review Program by the U.S. Food and Drug Administration (FDA). When discussing the trial, Dr. Velcheti, Director of the Thoracic Medical Oncology Program at NYU Langone says The CODEBREAK 100 trial represents the clinical validation of significant research efforts spanning decades. Now we finally have targeted therapy options for these patients.

Overall I am impressed with this drug. It is hard for the public to understand just how far drug development has come.

So what does this mean for patients? This means that the new drug targeting KRAS may soon be available for patients whose tumors harbor this mutation and who have not responded to other treatments.

Lung specialists from across the country were eager to speak with SurvivorNet regarding the exciting news. Dr. Brendon Stiles, Associate Professor of Cardiothoracic Surgery at Weill Cornell Medical Center tells SurvivorNet Overall I am impressed with this drug. It is hard for the public to understand just how far drug development has come. The KRAS mutation has long been considered undruggable, meaning if you have this mutation, there was not a medicine designed specifically to treat this type of cancer. The chance of responding to the new therapy is around 40%. Although, researches would prefer to see this percent be higher the results of the study give hope that future therapies may have even better outcomes. Dr. Herbst is also optimistic about the future of drugs targeting KRAS and thinks the results of this study opens up a whole new world for lung cancer. If you or a loved one have NSCLC with a KRAS mutation ask your doctor about what treatment options are best for you.

Learn more about SurvivorNet's rigorous medical review process.

Dr. Roy Herbst, Chief of Medical Oncology at Yale tells SurvivorNet We are excited we have a drug that could work in these patients. The fact that tumors respond to this therapy is a big deal.

Now we finally have targeted therapy options for these patients.

In patients who have advanced stage or metastatic NSCLC most patients will have their tumor tested for genetic abnormalities or biomarkers to help their doctors select what treatments are best. Some common biomarkers such as EGFR and PDL1 have medications that doctors can use to target the lung cancer and improve a patients survival and quality of life. Despite this, one biomarker that has never had a treatment is KRAS. KRAS is a mutation that occurs in some patients with NSCLC and is generally associated with poor outcomes. One reason this mutation is considered a bad risk factor is that unlike other mutations such as EGFR there has never been a drug approved to treat this type of lung cancer.

Fortunately, for patients, this may be changing soon. A new drug called Sotorasib that specifically targets the KRAS mutation recently showed positive results in the early phase CODEBREAK 100 study. Based on the results from the early phase study Sotorasib was granted Break Through Therapy Designation and the drug has been accepted into the Real-Time Oncology Pilot Review Program by the U.S. Food and Drug Administration (FDA). When discussing the trial, Dr. Velcheti, Director of the Thoracic Medical Oncology Program at NYU Langone says The CODEBREAK 100 trial represents the clinical validation of significant research efforts spanning decades. Now we finally have targeted therapy options for these patients.

Overall I am impressed with this drug. It is hard for the public to understand just how far drug development has come.

So what does this mean for patients? This means that the new drug targeting KRAS may soon be available for patients whose tumors harbor this mutation and who have not responded to other treatments.

Lung specialists from across the country were eager to speak with SurvivorNet regarding the exciting news. Dr. Brendon Stiles, Associate Professor of Cardiothoracic Surgery at Weill Cornell Medical Center tells SurvivorNet Overall I am impressed with this drug. It is hard for the public to understand just how far drug development has come. The KRAS mutation has long been considered undruggable, meaning if you have this mutation, there was not a medicine designed specifically to treat this type of cancer. The chance of responding to the new therapy is around 40%. Although, researches would prefer to see this percent be higher the results of the study give hope that future therapies may have even better outcomes. Dr. Herbst is also optimistic about the future of drugs targeting KRAS and thinks the results of this study opens up a whole new world for lung cancer. If you or a loved one have NSCLC with a KRAS mutation ask your doctor about what treatment options are best for you.

Learn more about SurvivorNet's rigorous medical review process.

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The First Targeted Therapy For Lung Cancer Patients With The KRAS Gene MutationExtraordinary Results With Sotorasib - SurvivorNet


Genetic Testing: MedlinePlus

Friday, January 29th, 2021

What is genetic testing?

Genetic testing is a type of medical test that looks for changes in your DNA. DNA is short for deoxyribonucleic acid. It contains the genetic instructions in all living things. Genetic tests analyze your cells or tissue to look for any changes in

Genetic testing may be done for many different reasons, including to

Genetic tests are often done on a blood or cheek swab sample. But they may also be done on samples of hair, saliva, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. The sample is sent to a laboratory. There, a lab technician will use one of several different techniques to look for genetic changes.

The benefits of genetic testing include

The physical risks of the different types of genetic testing are small. But there can be emotional, social, or financial drawbacks:

The decision about whether to have genetic testing is complex. In addition to discussing the test with your health care provider, you can meet with a genetic counselor. Genetic counselors have specialized degrees and experience in genetics and counseling. They can help you understand the tests and weigh the risks and benefits. If you do get a test, they can explain the results and make sure that you have the support that you need.

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Genetic Testing: MedlinePlus


21 Common Genetic Disorders: Types, Symptoms, Causes …

Friday, January 29th, 2021

What is a genetic disease?

A genetic disease is any disease caused by an abnormality in the genetic makeup of an individual. The genetic abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some people inherit genetic disorders from the parents, while acquired changes or mutations in a preexisting gene or group of genes cause other genetic diseases. Genetic mutations can occur either randomly or due to some environmental exposure.

What are the four types of genetic disorders (inherited)?

There are a number of different types of genetic disorders (inherited) and include:

The baby with Down syndrome has a hallmark appearance. However, every aspect of the appearance does not need to be present as the phenotype, the way the genes make the child look, can be markedly different for each patient. Common Down syndrome symptoms are:

7 single gene inheritance disorders

Single gene inheritance is also called Mendelian or monogenetic inheritance. Changes or mutations that occur in the DNA sequence of a single gene cause this type of inheritance. There are thousands of known single-gene disorders. These disorders are known as monogenetic disorders (disorders of a single gene).

Single-gene disorders have different patterns of genetic inheritance, including

Some examples of single-gene disorders include

7 common multifactorial genetic inheritance disorders

Multifactorial inheritance is also called complex or polygenic inheritance. Multifactorial inheritance disorders are caused by a combination of environmental factors and mutations in multiple genes. For example, different genes that influence breast cancer susceptibility have been found on chromosomes 6, 11, 13, 14, 15, 17, and 22. Some common chronic diseases are multifactorial disorders.

Examples of multifactorial inheritance include

Multifactorial inheritance also is associated with heritable traits such as fingerprint patterns, height, eye color, and skin color.

4 chromosomal abnormalities

Chromosomes, distinct structures made up of DNA and protein, are located in the nucleus of each cell. Because chromosomes are the carriers of the genetic material, abnormalities in chromosome number or structure can result in disease. Chromosomal abnormalities typically occur due to a problem with cell division.

For example, Down syndrome (sometimes referred to as "Down's syndrome") or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome 21. There are many other chromosomal abnormalities including:

Diseases may also occur because of chromosomal translocation in which portions of two chromosomes are exchanged.

3 mitochondrial genetic inheritance disorders

This type of genetic disorder is caused by mutations in the non-nuclear DNA of mitochondria. Mitochondria are small round or rod-like organelles that are involved in cellular respiration and found in the cytoplasm of plant and animal cells. Each mitochondrion may contain 5 to 10 circular pieces of DNA. Since egg cells, but not sperm cells, keep their mitochondria during fertilization, mitochondrial DNA is always inherited from the female parent.

Examples of mitochondrial disease include

What is the human genome?

The human genome is the entire "treasury of human inheritance." The sequence of the human genome obtained by the Human Genome Project, completed in April 2003, provides the first holistic view of our genetic heritage. The 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes) between them house almost 3 billion base pairs of DNA that contains about 20,500 protein-coding genes. The coding regions make up less than 5% of the genome (the function of all the remaining DNA is not clear) and some chromosomes have a higher density of genes than others.

Most genetic diseases are the direct result of a mutation in one gene. However, one of the most difficult problems ahead is to further elucidate how genes contribute to diseases that have a complex pattern of inheritance, such as in the cases of diabetes, asthma, cancer, and mental illness. In all these cases, no one gene has the yes/no power to say whether a person will develop the disease or not. It is likely that more than one mutation is required before the disease is manifest, and a number of genes may each make a subtle contribution to a person's susceptibility to a disease; genes may also affect how a person reacts to environmental factors.

Medically Reviewed on 10/17/2019


United States. National Heart, Lung, and Blood Institute. "Cystic Fibrosis." <>.

United States. National Human Genome Research Institute. "Frequently Asked Questions About Genetic Disorders." <>.

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21 Common Genetic Disorders: Types, Symptoms, Causes ...


Genetic Counseling Online Course – School of Medicine …

Friday, January 29th, 2021

Taught by the genetic counselor faculty of the University of South Carolina Genetic Counseling Program, this specially designed genetic counseling online course,Genetic Counseling: Career for the Future, is comprised of lectures from genetic counselors, readings from professional literature and practical activities to help broaden your understanding of the profession and prepare for graduate school.

Online course topics include genetic counseling as a health care profession,with an introduction to various arenas of genetic counseling including prenatal, pediatric, cancer and adult. You'll explore clinical, laboratory and research roles, the counselor-patient relationship, ethical issues and other hot topics, as well as strategies for preparing for graduate education.

Summer 2020 Session:June 8 - August 28Registration Deadline isJune 3

Fall 2020 Session:August 17 November 13Registration Deadline is August 12

Spring 2021 Session:January 11 April 2Registration Deadline is January6

Register Now!

Ourgenetic counseling online course is offered over a 12-week period with two to three hours of self-paced activity per week. Upon completion, youll receive a continuing education certificate to add to your resume. There are no prerequisites for the course. Designed as an in-depth exploration of genetic counseling, the course will demonstrate your commitment to genetic counselor education at the same time you become savvy about the profession and considerations for graduate school.

The Genetic Counseling Program strives to increase diversity among genetic counselors and promotes an inclusive learning environment. As part of our Diversity Recruitment Initiative, a limited number of discounted registration fees will be granted to individuals of underrepresented communities of color. Come learn with us!

One of my reasons for taking this course was to feel inspired every week and gain further insight into the field of genetic counseling as I prepare for applications, and that is definitely happening! I really appreciate the range of assignments and I think it's a good combination to help structure our learning.

The work load is just right. Everything we have done has made me more and more excited about working towards my career as a genetic counselor.

I can tell that you have put a lot of time and effort into making this course as informative, up-to-date, and engaging as an in-person class.

It's fun to communicate with so many people with different backgrounds. Everyone shares their different experiences and I am constantly learning.

I've enjoyed reading the articles and responding to others on the discussion board. The videos have been so insightful --hearing from genetic counselors, learning about their jobs, and what excites them has been very meaningful to me.

With all of the information being online, I can start and stop the work as I please and always find time to do the readings and activities for the week. I really enjoy that the fact that the information comes from such a variety of resources...especially resources that I would have never known about otherwise. All of the articles, websites and videos have been so informative and learning more information about the field has deepened my passion for genetic counseling!"

You may also be interested in theSummer Internship.

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Genetic Counseling Online Course - School of Medicine ...


4 New Life Sciences Licensing Deals and Investments to Watch – BioSpace

Friday, January 29th, 2021

Today marked some wheeling and dealing in the life sciences industry as several companies licensed products or invested in other companies. Heres a look.

Eli Lillyand Asahi Kasei Pharma Eli Lilly and Company inked a license agreement with Tokyos Asahi Kasei Pharma Corporation. In it, Lilly picks up exclusive rights to AK1780 from Asahi. The drug is an oral P2X7 receptor antagonist that recently finished a Phase I dosing study. P2X7 receptors are associated with neuroinflammation that drives chronic pain conditions.

Under the terms of the deal, Lilly will handle future global development and regulatory activities. Lilly is paying Asahi Kasei Pharma $20 million up front and the Japanese company is eligible for up to $210 million in development and regulatory milestones. Asahi Kasei will retain the rights to promote the drug in Japan and China, including Hong Kong and Macau. If it makes it to market, Asahi Kesei will also be eligible for up to $180 million in sales milestones and tiered royalties from the mid-single to low-double digits.

Lilly is committed to developing novel medicines that may provide relief for patients suffering with various pain conditions, said Mark Mintun, vice president of pain and neurodegeneration research at Lilly. We are pleased to license this molecule from Asahi Kasei Pharma, and look forward to developing it further as a potential treatment for neuroinflammatory pain conditions.

Artiva Biotherapeutics and Merck San Diego-based Artiva Biotherapeutics announced an exclusive global collaboration and license agreement with Merck to develop novel chimeric antigen receptor (CAR)-NK cell therapies against solid tumor-associated antigens. They will leverage Artivas off-the-shelf allogeneic NK cell manufacturing platform and its proprietary CAR-NK technology. At first, the collaboration will include two CAR-NK programs with an option for a third. None of them are currently part of Artivas current or planned pipeline. Artiva will develop the programs through the first GMP manufacturing campaign and to preparation for the Investigational New Drug (IND) application, where Merck will take over clinical and commercial development.

Merck is paying Artiva $30 million upfront for the first two programs and another $15 million if Merck chooses to go ahead with the third. Artiva will be up for development and commercial milestones up to $612 million per program and royalties on global sales. Merck also is ponying up research funding for each program.

Our NK platform has been developed to be truly off-the-shelf and we believe it will be further validated by this exclusive collaboration with Merck, as we work together to bring cell therapies to all patients who may benefit, said Peter Flynn, chief operating officer of Artiva.

NeuBase Therapeutics and Vera Therapeutics Pittsburgh-based NeuBase Therapeutics announced a binding agreement to acquire infrastructure, programs and intellectual property for several peptide-nucleic acid (PNA) scaffolds from Vera Therapeutics, formerly called TruCode Gene Repair. Vera is based in South San Francisco. On January 19, Vera announced its launch with a $80 million Series C financing led by Abingworth LLP and joined by Sofinnova Investments, Longitude Capital, Fidelity Management & Research Company, Surveyor Capital, Octagon Capital, Kliner Perkins, GV and Alexandria Venture Investments. Veras lead clinical candidate is atacicept, a novel B cell and plasma cell inhibitor being developed for patients with IgA nephropathy (IgAN).

The technology acquired by NeuBase has shown the ability to resolve disease in genetic models of several disease indications. NeuBase is focused on genetic medicine.

With this acquisition, we enhance our PATrOL platform, furthering our unique ability to directly engage and correct malfunctioning genes with exquisite precision to address the root causes of a wide variety of human diseases, said Dietrich A. Stephan, chief executive officer of NeuBase. These assets extend and refine our PATrOL platforms capabilities and accelerates, through our Company, to bring the rapidly growing genetic medicines industry toward a single high-impact focal point. We are committed to advancing our pipeline and candidates to the clinic and to exploiting the full potential of PNA technology to continue creating value for our shareholders and importantly, for patients.

Bio-Techne Corporation and Changzhou Eminence Biotechnology Co Minneapolis-based Bio-Techne Corporation announced an initial minority strategic equity investment in Chinas Changzhou Eminence Biotechnology Co. Eminence plans to use the financing to expand its manufacturing capacity and increase the service capabilities of its China-based GMP media production facility. Eminence, based in Changzhou City, Jiangsu, China, launched in 2016 and initially focused on manufacturing and selling best-in-class media to life science companies, including Chinese Hamster Ovary (CHO) cells and other serum-free media products and services. The company is currently finishing and scaling its GMP production facility, which it plans to complete by the end of this year.

With our protein analysis instruments and expanding GMP protein capabilities, Bio-Techne continues to expand its offering of products and tools critical for bioprocessing, said Chuck Kumeth, president and chief executive officer of Bio-Techne. Investing in Eminence not only gives Bio-Techne a foothold in providing additional products and services to support the critical needs of the rapidly growing Chinese biopharmaceutical industry, but also fits extremely well with our existing high-growth product portfolio in China. We look forward to working with the Eminence team.

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