StemCell Therapy

SAN DIEGO, Oct. 16, 2019 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (NASDAQ: BNGO), a life sciences instrumentation company that develops and markets the Saphyr system, a genome imaging platform for ultra-sensitive and ultra-specific genome-wide structural variation detection, today announced that leading organizations, including PerkinElmer Genomics and the University of Iowa, have adopted Saphyr for use in their clinical genomics laboratories. PerkinElmer Genomics and the University of Iowa have developed assays based on the Bionano optical mapping technology to expand their comprehensive suite of genetic tests assessing disease-associated chromosomal abnormalities. Their lead indication is Facioscapulohumeral Muscular Dystrophy (FSHD).

FSHD is one of the most prevalent forms of muscular dystrophy and affects approximately 1 in 10,000 individuals. It is caused by changes in the number of repeats in a section of chromosome 4. To correctly diagnose FSHD, an exact count of the repeat number is necessary. To date, molecular diagnoses for FSHD are generated using outdated Southern Blot techniques, which are imprecise, labor intensive and involve radioactive labeling methods which are being phased out of laboratory use for safety reasons. In contrast, the assays developed by PerkinElmer Genomics and the University of Iowawith the Bionano EnFocus FSHD Analysis tool are reproducible, safe, fast, and automated with minimal hands-on time. These assays provide an exact repeat number for the pathogenic and non-pathogenic variants, give a high-resolution view of the repeat regions and have a high sensitivity to mosaicism.

Jamshid Arjomand, Ph.D., CSO of the FSHD Society, the leading research-focused patient organization forFSHD, said, The FSHD community has been waiting years for an accessible and robust assay like this. The lack of timely and affordable genetic testing has been a major hurdle for the FSHD community. Thousands of patients have never received a molecular diagnosis, which limits successful recruitment into the increasing number of clinical research and clinical trial studies for this devastating disease. We are delighted that Bionanos Saphyr system enables a more precise and higher throughput method for FSHD genetic testing and are grateful to diagnostic groups and companies that are making genetic testing more accessible to our families.

We are pleased to be the first US laboratory to develop and validate an assay based on the Bionano Saphyr system in a clinical setting under CLIA/CAP guidelines" stated Madhuri Hegde, Ph.D., FACMG, Vice President and CSO of PerkinElmer Genomics. "We are committed to helping patients and families that need genetic testing and are excited about the strong clinical utility of this assay for the molecular assessment of FSHD patients."

Erik Holmlin, Ph.D., CEO of Bionano, commented, We have always believed that Bionanos unique ability to image long, intact DNA molecules could enable the Saphyr system users to develop assays in a clinical setting to modernize and streamline the practice of cytogenetics. Our teams have worked tirelessly to improve the speed, quality, throughput, and robustness of the optical mapping application of genome imaging while simultaneously reducing cost, assay complexity and data analysis. We believe Saphyr is ready to be adopted for assay development in a routine clinical workflow, and we are thrilled that PerkinElmer Genomics and the University of Iowa are taking the lead in making the Saphyr system a tool for next-generation cytogenomics, with many other academic, CRO and reference laboratories expected to follow. We believe that FSHD is just the start of a wide array of clinical genetics assays that labs will develop with our technology.

Results of the PerkinElmer Genomics FSHD evaluation study using the Saphyr system will be presented by Alka Chaubey, Ph.D., FACMG, Head of Cytogenomics and Laboratory Director at PerkinElmer Genomics at the Bionano Genomics ASHG exhibitor workshop on Thursday, Oct. 17, 2019 from 12:45 pm 2:00 pm at the Houston Marriott Marquis. More information about the workshop can be found online, and a recording will be made available on Bionanos website.

Bionano will showcase the Bionano EnFocus FSHD Analysis tool for fast, streamlinedbioinformaticsassessment of theFSHD locusfrom genome-wide optical mapping data at booth #527 during the annualAmerican Society of Human Genetics Annual Meeting, Oct. 15-19, 2019.

About Bionano Genomics

Bionano is a life sciences instrumentation company in the genome analysis space. Bionano develops and markets the Saphyr system, a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets andto establish digital cytogenetics, which is designed to be a more systematic, streamlined and industrialized form of traditional cytogenetics. The Saphyr system comprises an instrument, chip consumables, reagents and a suite of data analysis tools. More information about Bionano Genomics is available at http://www.bionanogenomics.com.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, including, among other things: conclusions as to Saphyrs potential as a powerful new tool in cytogenetics; Saphyrs potential contribution to improvements in traditional cytogenetics; the University of Iowas or PerkinElmer Genomics plans to develop additional assays using our technology; our beliefs regarding the Saphyr systems readiness for clinical adoption andour expectations regarding adoption by other academic, CRO and reference laboratories using our technology; PerkinElmer Genomics commercial plans; plans of other Saphyr system users to implement their own assays for FSHD and other genetic disorders; and certain planned presentations by PerkinElmer Genomics and us. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks that our sales, revenue, expense and other financial guidance may not be as expected, as well as risks and uncertainties associated with general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of key clinical studies to demonstrate the effectiveness of our products; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2018 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

Contacts

Company Contact:Mike Ward, CFOBionano Genomics, Inc.+1 (858) 888-7600mward@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617)775-5956arr@lifesciadvisors.com

Media Contact:Kirsten ThomasThe Ruth Group+1 (508) 280-6592kthomas@theruthgroup.com

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Bionano Genomics Announces Adoption of Its Saphyr System by Clinical Cytogenetics Groups in Academia and Industry to Replace Traditional Methods for...

Stefan Mundlos, from the Max Planck Institute for Molecular Genetics, explains why there will be no designer babies in the near future

The first genetically modified humans were born in China in 2018. Now scientists and politicians in Russia are discussing whether using CRISPR/Cas9 to edit the genome of human embryos should be permitted. Stefan Mundlos, of the Max Planck Institute for Molecular Genetics in Berlin, is a member of the Genome Editing working group within the Ethics Council of the Max-Planck-Gesellschaft. The scientist, who himself uses CRISPR/Cas in his research, believes the concern over uncontrolled manipulation of the human genome is exaggerated.

Stefan Mundlos conducts research into rare bone diseases triggered by altered genes.

Edgar Zippel

Professor Mundlos, is the modification of human cells ethically justifiable?

It depends whether we are talking about normal body cells the somatic cells as they are known or about germline cells: sperm and egg cells. Somatic cells do not pass on their genetic material. If the genome of these cells is modified, the mutation disappears with the death of the patient. Such an intervention for the treatment of hereditary conditions or cancer is comparable to other cell-based therapies and therefore ethically unproblematic.

What about germline genome editing?

Thats completely different. The task of sperm and egg cells is to provide offspring. So they pass on their genetic material to the next generation. Manipulating the germline will therefore affect people who are not yet born at the time of modification, and cannot therefore give their consent. Thats ethically unacceptable. As genome editing is also not yet precise enough to avoid causing unintended mutations, the Max-Planck-Gesellschaft has spoken out against interventions in the germline in its discussion paper on genome editing.

How safe is the technique then?

CRISPR/Cas9 does work very precisely, and almost always cuts the DNA at a defined point. But despite that, mistakes can happen. Researchers are currently working on even more exact and less error-prone variations of the technique. In any case, we will always have to check whether modified cells do indeed only carry the desired mutations.

What significance will genome editing in humans have in the future?

The modification of normal body cells definitely has great medical potential. Conditions that are caused by one or a few mutations, such as some forms of leukaemia, could be treated this way. Im sure that well be able to treat the first patients using this method in just a few years.

On the other hand, I dont see any need for germline gene therapy, since there are equivalent and ethically less problematic alternatives. Using in-vitro fertilization and pre-implantation diagnostics, embryos free from adverse mutations can be selected for implantation.

Many people fear that genome editing will be used not just for treating illnesses, but also to optimize human characteristics. In the future, will we have particularly intelligent or tall designer babies thanks to this new technique?

I dont see any danger of this happening in the foreseeable future. Characteristics such as intelligence, height, or other characteristics we might wish to optimize, are influenced by many different genes. We are far from even understanding these gene networks, much less being able to manipulate them. Its quite possible that doing this will be completely impossible without triggering undesired effects elsewhere.

Some scientists are demanding a moratorium, a voluntary commitment to refrain from carrying out any modification of the human germline. What do you think about that?

I dont believe such a moratorium would be effective. The circle of scientists who can implement the technology is too wide for that. There will always be someone, somewhere in the world, who doesnt feel bound by the moratorium. And in any case, who would be responsible for policing it?

Is there no stopping the manipulation of the human genome then?

Im convinced that the lack of benefit will be much more effective than bans or voluntary commitments regarding germline gene therapy. Why would a pregnant woman have egg cells removed, if she can achieve the same result for her child by much less troublesome means? There would be no reason, and therefore no market for it.

Excerpt from:
"There is no reason for germline therapy" - Mirage News

Bayer will invest more than $30 million over the next five years to fund collaborative research projects focused on finding new treatments for chronic lung diseases, including chronic obstructive pulmonary disease(COPD).

The projects will be developed in a new lab launched in collaboration with the founding members of Partners HealthCare Brigham and Womens Hospital (BWH) and Massachusetts General Hospital (MGH). Both are leaders in the field of lung diseases.

The joint lab, located at Brigham and Womens Hospital, in Boston, will host more than 20 scientists from the three partner groups.

Research projects will be led by four leading experts:Edwin Silverman, MD, PhD, BWHs chief of the Channing division of network medicine; Bruce Levy, MD, BWHs chief of pulmonary and care medicine; Benjamin Medoff, MD, MGHs chief of pulmonary and critical care; and Markus Koch, PhD, Bayers head of lung diseases preclinical research.

This collaboration will combine Bayers expertise in drug discovery and development with the clinical expertise, understanding of disease mechanisms, data analysis capabilities, and insights from the physician-scientists at BWH and MGH.

Our investigators have unique expertise in cell and molecular biology of lung disease, genetics, imaging, and bioinformatics, which complement the expertise Bayer investigators additionally have in drug development, pharmacology, and medicinal chemistry, Silverman said in a Q&A published on the Bayer website.

We anticipate that we will learn a great deal from each other during this collaboration, and that those complementary strengths will lead to greater progress than either group could make by themselves, he added.

In the Q&A, Levy emphasized that current treatments are inadequate for COPD the fourth leading cause of death in the U.S. While there are therapies that provide symptomatic relief, there are no treatments targeting the underlying mechanisms of the disease.

Rather than focusing on developing more bronchodilator medications for COPD, our goal is to develop new types of treatments that focus on disease mechanisms for COPD and interstitial lung disease, Levy said.

The researchers hope the initiative will speed up treatment development.

This collaboration provides the opportunity to integrate novel findings directly into the drug development pipeline, Paul Anderson, MD, PhD, BWHs senior vice president and chief academic officer, said in a press release. We strongly believe that this model will significantly accelerate the pace of discovery toward the goal of getting new therapies from the lab to patients safely and efficiently.

Joerg Moeller, member of the executive committee of Bayers pharmaceuticals division and head of research and development, believes this collaboration will complement the companys research, bringing its scientists closer to identifying and provide life-changing therapies for people with chronic lung diseases.

The joint lab concept continues to be an innovative model for collaboration between academia and industry, enabling novel approaches to drug discovery, Moeller said.

Rights of any commercially viable findings will be shared equally between Bayer, BMH and MGH.

The new joint lab expands Bayers existing footprint in the Boston region. The company last year established its first joint lab in Boston with the Broad Institute of MIT and Harvard to focus on cardiovascular diseases.

Total Posts: 157

Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

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Bayer Will Invest $30M in Joint Research Lab for COPD, Other Chronic Lung Diseases - COPD News Today

Dateline: Listen to this story plus more on Alzheimer's prevention as podcast from APM Reports. Subscribe now. Illustration by Dan Carino for APM Reports.

Daniel Gibbs practiced as a neurologist for 25 years in Portland, Oregon. After years of giving patients the devastating news that they had Alzheimer's disease, he began to suspect he might have it himself.

He had trouble remembering neighbors' names and kept forgetting his new clinic's address. He quietly asked a colleague to run some cognitive tests, then retired in 2013 because he didn't want any of his lapses to harm his patients.

Two years later, he was diagnosed with early-stage Alzheimer's disease. "It was actually kind of a relief," he said.

Gibbs, 68, enrolled in a study for a drug called aducanumab, developed by Biogen. The pharmaceutical company had just revealed stunning results from an initial test in people with memory problems. The medicine scrubbed the brain of a sticky plaque long thought to be the cause of Alzheimer's disease.

It seemed to slow cognitive decline in some patients, and as news stories hyped its promise, Biogen stock soared.

Gibbs was hopeful. Every month for a year and a half, he flew to San Francisco for an infusion of either the drug or a placebo. "I'm very high about it," Gibbs said in late 2018, while the study was still gathering data. "I think it has a good chance of being successful."

At the time, Gibbs was one of tens of thousands of people who had agreed to take experimental drugs for Alzheimer's, hoping to stave off their slide into full-blown dementia. Except for a few drugs that temporarily curtailed symptoms, no medicine had worked.

Drug studies for Alzheimer's disease were long shots because the causes of neurodegeneration were so murky. Studies had among the highest failure rates of any condition.

Even today after 40 years and billions of dollars researchers still can't agree on what it is. "I don't think anybody thought it would take this long and be this hard," said Eric Siemers, who retired from Eli Lilly in 2017 after 20 years trying to create a drug for Alzheimer's.

Researchers have tried to slow the erosion of memory with everything from estrogen replacement to anti-inflammatory pills and ginkgo biloba. They've tried new drugs to boost neurotransmitters and slash cortisol, a hormone released in response to stress.

Most drugs, though, have targeted the "amyloid plaques" that develop in the brains of many people as they age. Now, evidence is mounting that these plaques are not the cause of Alzheimer's disease, a worrisome possibility after decades of research.

A handful of neurologists and leaders at the newly formed National Institute on Aging (NIA) sent researchers down this narrow path in the 1970s. They argued that old-age mental decline was the same as a rare neurodegenerative disease of middle age Alzheimer's disease.

They told Congress and the public that with enough money, they would soon find a cure. Genetic clues from these middle-age Alzheimer's patients seemed to point to a single molecule: the protein in plaques called "amyloid beta."

Research became dominated by the theory that amyloid beta causes Alzheimer's. In fact, through the '90s and early 2000s, grant money overwhelmingly flowed to studying it, effectively stifling alternative theories.

Pharmaceutical companies poured billions of dollars into detecting amyloid beta in spinal fluid and brain scans and creating drugs to stop it from building up in brains. But brain scans revealed an inconvenient truth dementia doesn't track closely with amyloid beta. And the drugs have failed to slow cognitive decline in clinical trials.

"Every major pharmaceutical company put money into the amyloid idea, and they all failed because the idea was flawed," said Zaven Khachaturian, a former director of Alzheimer's research at the NIA.

"It became gradually an infallible belief system. So, everybody felt obligated to pay homage to the idea without questioning. And that's not very healthy for science when scientists ... accept an idea as infallible. That's when you run into problems," he said.

The disappointment is strong because, for years, the promises were so big.

TIMELINE Key events in the history of Alzheimer's research

Senility rebranded as Alzheimer's disease

The definition of Alzheimer's disease as we understand it today goes back to a fledgling agency, created in the 1970s, called the National Institute on Aging in the National Institutes of Health. Khachaturian, a neurologist, was one of its first employees and was struggling to recruit scientists to study the aging brain.

"The idea of doing aging research was considered a bit of a joke," recalled Khachaturian. "It didn't have the legitimacy of doing research in, say, cancer or heart disease."

This was something Khachaturian's boss, Robert Butler, wanted to change.

Butler had been raised by his grandparents on a chicken farm in New Jersey, which Khachaturian said gave him "a love for older individuals" that shaped his career as a psychiatrist and gerontologist. He coined the term "age-ism." His book, "Why Survive? Being Old in America," won the Pulitzer Prize in 1976 for drawing attention to what he called "the tragedy" of old age.

That same year, Butler was named founding director of the National Institute on Aging. He claimed one of those tragedies was confusion and memory loss in older people. Senility at the time was seen as a normal part of aging for some people, almost a phase of life. Doctors attributed it to "hardening of the arteries" in the brain and accepted it.

Butler, though, was intrigued by research that started to challenge that assumption. Scientists claimed many older people with senility had an obscure disease Alzheimer's disease.

The rare condition was named after a German psychiatrist named Alois Alzheimer, who in 1906 described the peculiar case of a 51-year-old woman with dementia. After she died, Alzheimer peered at slices of her brain under a microscope and saw destroyed neurons, blobs of protein plaque and tangles of tough, thready material. These "plaques and tangles" became the hallmarks of the odd middle-age disease named after him.

For the next 70 years, it was only diagnosed in people under age 65.

In the 1970s a few researchers began to question that age limit. When they autopsied older people with senility, they often but not always found the same "plaques and tangles" that Dr. Alzheimer described. Based on these autopsies, they argued that much of senility was really Alzheimer's disease.

"That was a mind-blowing conceptual change," said epidemiologist Lon White, who later led a major study of mental decline in older men in Hawaii.

The expanded definition of Alzheimer's disease reframed cognitive problems in old age: Suddenly millions of older people weren't suffering from inevitable aging. Instead, they were suffering from a specific disease, with the expectation that it could be studied and possibly cured.

Butler picked up this argument. He called Alzheimer's "an epidemic" and sold the public on his vision: Medical research would cure Alzheimer's, just as research had led to eradicating infectious diseases.

"When I appeared before Congress, I would argue that Alzheimer's disease is the polio of geriatrics," Butler told an interviewer in 2008, two years before he died. "And just as we no longer hear the thump-thump of the iron lung ... because we no longer have polio, so, too, I think the day will come when we will no longer have Alzheimer's disease."

Robert Butler Courtesy of American Society on Aging

There were practical marketing reasons for positioning Alzheimer's disease as a priority. It allowed Butler to attract credibility, scientists, and, most importantly, federal research funding.

Reflecting on his strategy, Butler wrote in 1999 that "the public does not see itself as 'suffering' from the basic biology of aging, nor does it generally believe that aging per se can be reversed."

He concluded that the public only mobilizes around a specific disease.

Recalled Khachaturian: "In order to bring the funding to the NIA, the claim the headline was Alzheimer's, and we defined it very broadly. It was just a linguistic kind of thing rather than a clear-cut medical diagnostic, sorting out."

Butler also was inspired by the success of citizen lobbying groups for heart disease and cancer. He helped create what became the Alzheimer's Association to use what he called the "health politics of anguish" to play a similar role raising money for Alzheimer's research. The public began clamoring for funding and some scientists began promising a cure.

Federal funding for Alzheimer's Federal spending on Alzheiemer's disease research surged in the last few years. Taxpayers support most of the research done by universities, though health nonprofit organizations like the Alzheimer's Association also provide grants. Pharmaceutical companies and venture capital pay for the vast majority of clinical drug trials. *The amount for 2019 is an estimate.

SOURCE: National Institutes of Health

George Glenner, a pioneering Alzheimer's researcher at the University of California-San Diego, wrote to the Senate Special Committee on Aging in 1988 that, in part due to the discovery of the protein in Alzheimer's plaques, scientists likely could come up with a drug treatment "by the turn of the century."

In testimony typical for its optimism, Leonard Berg, chairman of the medical advisory board of the Alzheimer's Association, told Congress in 1992 that "a treatment to delay Alzheimer's" was "clearly within our reach" and that there was "a reasonable expectation in the next five to 10 years of some major impact."

As Alzheimer's disease became a household word, its boundaries grew fuzzier. Scientists initially were careful to say that not all seniors with memory loss and thinking problems had Alzheimer's disease.

But to the public, Alzheimer's became interchangeable with senility.

In just over a decade from the mid-1970s to the late 1980s Butler, Khachaturian and a handful of neurologists took what had been an obscure diagnosis of middle age and presented it to the public as a major killer and also a crisis that would overwhelm the country when the baby boomers aged.

Politics motivated this expanded definition of Alzheimer's as much as medical research.

Calling senility "Alzheimer's disease" created a rationale for funding the study of cognitive decline in old age. It also created tunnel vision that focused science on the similarities between middle-age Alzheimer's and old-age dementia, specifically those sticky plaques.

Over time, the broad study of mental decline in old age would be constrained by the narrow definition of a disease defined by Alois Alzheimer.

This means researchers would spend less time seeking clues to dementia in older people who didn't have plaque. And, this initial framing of Alzheimer's downplayed the possible role of heart disease and inflammation. In general, it underestimated the maddening complexity of dementia in old age.

"Dr. Alzheimer looked in his microscope and he saw amyloid and so that's been the definition because that's what he saw!" said Adam Brickman, an associate professor of neuropsychology at Columbia University.

"What blew my mind ... is that the field didn't say, 'Oh, maybe we were wrong. Maybe (the doctor) was wrong. Maybe it's not these plaques and tangles or maybe that's not the whole story.' That hasn't been questioned enough and that just blows my mind."

Gene defects point to a molecule

By 1990, brain aging research was no longer a backwater. The National Institute on Aging funded 15 Alzheimer's research centers at major universities. Scientists developed theories for what destroys the neurons and synapses in Alzheimer's disease: missing neurotransmitters, inflammation, aluminum, glucose deficiency, a slow-moving virus.

The most visible abnormalities plaques and tangles became prime suspects.

One camp argued for tangles. Another for plaques. But in the brains of older people ravaged by Alzheimer's, it was impossible to tell precisely what might be directly causing damage and what was merely a byproduct. One researcher compared the task to showing up at a football stadium after the game was over, and then trying to piece together what had happened from the trash on the field and in the bleachers.

The expanding field of genetics seemed to promise a map out of the chaos.

Scientists began looking at families around the world that inherit a rare form of Alzheimer's disease that strikes in middle age. They hoped that finding the gene defect that caused early Alzheimer's would pinpoint the origin of neurodegeneration. Armed with that knowledge, they thought they might be able to create a drug to help millions of people evade Alzheimer's in old age.

Marty Reiswig's extended family was at the center of the Alzheimer's gene hunt in the 1980s. Ralph, his grandfather, was from a big farm family in Oklahoma. He developed Alzheimer's symptoms at around age 50, along with nine of his siblings. They all died young.

When Reiswig was a child, medical staff showed up at a family reunion to draw blood from aunts and uncles. He didn't think much about what it meant until years later. When he was in college, he attended another family reunion and saw relatives in his father's generation starting to show symptoms. They gathered at a pizza parlor and he remembers an uncle struggling to pull his chair out from the table, and nearly fall as he tried to sit down.

"I sort of thought that was odd," said Reiswig, 40. "But as I looked around the table, I just saw fear and anger and sadness. And that's when it really dawned on me. 'Oh my gosh, this Alzheimer's thing that they say runs in our family is really real.'"

By then, researchers had finally found the genetic mutations that cause early-onset Alzheimer's in these unusual families. It was a huge breakthrough. The paper about the first mutation was one of the most cited in 1991. But knowing where in the DNA something goes wrong wasn't the same as being able to fix it.

Reiswig's father developed dementia around age 50. The family lived in Colorado and Reiswig took his father skiing throughout the early stages of his decline. "One time, we were on the chairlift the first lift of the day and I said, 'Dad, what's it like to be you right now with Alzheimer's?'" recalled Reiswig. "He didn't think very long, and he just said, 'It's prison.'"

His father died in early 2019. For now, Reiswig has decided not to find out if he carries the gene mutation. There's a 50 percent chance he does, and if he does, there's a 50 percent chance for his children, 11 and 13.

These families' heartbreak, though, provided a vital clue for science.

The challenge for researchers was just how to make sense of it. Different families had different mutations. All the mutations appeared in one of three genes affecting three brain proteins: a big protein and two enzyme proteins that, like scissors, snip the big protein into smaller chunks.

And one of the smaller chunks was a protein fragment called amyloid beta. It turned out that amyloid beta is the very same protein that piles up into the plaques that Dr. Alzheimer saw back in 1906.

The defects strengthened the theory that plaques somehow cause Alzheimer's what became known as the amyloid hypothesis. This theory came to dominate the direction of drug development from the 90s onward. Suddenly pharmaceutical companies had a target they could attack with a drug.

"The mutations shifted focus onto amyloid plaque," said David Holtzman, a researcher at Washington University in St. Louis, who was involved in creating one of the first drugs to attack amyloid beta. "If you have a genetic cause, that tells you amyloid is central in causing the disease."

Researchers like Lon Schneider at University of Southern California said the initial hope was that by stopping amyloid beta "we could very possibly cure or stop the progression of the illness right in its tracks."

And the discovery was good for securing more research funding.

Khachaturian was elated. "I could go tell Congress saying, 'Look at all the wonderful things we're doing," recalled Khachaturian. "We discovered the gene. We discovered the molecule and if you remove the molecule, we will solve the disease."

It didn't turn out to be that easy.

Chasing amyloid beta ...

Whoever succeeded in making a drug for Alzheimer's stood to make a fortune.

Pharmaceutical companies were willing to gamble on this unproven idea and raced ahead, betting that removing the "toxic" amyloid beta protein from the brain would slow symptoms of memory loss.

"It was an exciting time," said Siemers of Ely Lilly. The company spent billions on the approach. Others aimed at it, too.

Over two thirds of Alzheimer's drug studies from 2002 to 2012 tested amyloid-bashing drugs. Between 2015 and the end of 2018, more than half of the two dozen drugs tested annually in major studies were focused on amyloid beta.

It took years just to develop drugs to test in clinical trials. Companies tried different approaches and hit dead ends. It was difficult to get drugs small enough to penetrate the brain.In 2008, Eli Lilly became the first big pharmaceutical company to test a pill that attacks one of the enzymes that creates amyloid beta. The theory was simple: disable the enzyme that snips amyloid beta out of the big protein and levels of amyloid beta would drop. But the study was stopped early because volunteers taking the pill were twice as likely to get skin cancer and declined faster on cognitive tests compared to people taking a placebo.

"One of the things about this field is that it makes you humble in a hurry," said Siemers. "It didn't work out the way a lot of us thought it might."

Companies including Ely Lilly, Merck, and Johnson and Johnson developed pills to inhibit a second enzyme, called BACE inhibitors. Two decades after work started on them, the last remaining ones have failed in clinical trials.

In July 2019, Novartis and Amgen abruptly halted a BACE inhibitor study when the drug resulted in faster decline on cognitive tests and more brain atrophy and weight loss. In September 2019, Eisai and Biogen halted their drug study on the recommendation of a safety committee.

At the same time, pharmaceutical companies tried to wipe out amyloid beta a different way using amyloid beta antibodies. These were designed to go directly after the amyloid beta molecule and flag it, so the brain's own immune system broke it down and carried it off, which is the way some cancer drugs work.

Initially, Siemers said, Eli Lilly got encouraging data on its amyloid beta antibody, called solanezumab.

... to abrupt endings

Meanwhile, by the mid-2000s, new brain scanning technology made it possible to peer into the brains of living people. As more people were scanned, it revealed something autopsies had shown earlier, but researchers had ignored.

Amyloid plaque doesn't correlate with dementia.

Roughly a third of cognitively normal older people have plaque in their brains. Plaque raises the risk of developing dementia later, but most people with plaque never develop dementia. To some researchers this increased doubt that amyloid beta is the cause of Alzheimer's.

Amyloid PET scans developed in the mid-2000s allowed researchers to track brain changes in living people. They showed that plaque doesn't correlate closely with dementia, though it raises the risk. The protein tau does track with memory loss and cognitive decline. Evan Vucci | AP

Additionally, the scans also revealed that a quarter to a third of people with dementia don't have plaque. That meant that whatever is causing their dementia is completely unrelated to amyloid.

Eli Lilly's first big study of solanezumab had failed to slow mental decline. But Siemers saw a faint indication that the drug might have helped people with mild symptoms. He wanted to press ahead with another big amyloid study.

This time, in 2013, Eli Lilly paid for expensive brain scans to make sure all the volunteers had amyloid beta in their brains along with mild symptoms, a characteristic of the only group that seemed to benefit in a previous study. Siemers hoped that with a more carefully screened group solanezumab would work.

"These studies are ridiculously expensive, but I can tell you from my simple-minded scientist standpoint it wasn't really a hard decision," said Siemers. "It was like you have to do another experiment to prove that what you think is there is really there."

Siemers waited three more years and got his answer in 2016. The drug hadn't made a difference. "There were lots of tears," said Siemers, who still finds it difficult to talk about the failure years later.

After Eli's solanezumab crashed, hope shifted to amyloid beta antibodies at other companies, particularly Biogen's antibody aducanumab. In 2018, Dennis Selkoe, an Alzheimer's researcher at Harvard University who developed the amyloid hypothesis, called it "the best shot on goal."

Skeptics warned that his optimism and the world's was misplaced.

David Grainger, a venture capital investor in life sciences who has been critical of the amyloid approach, wrote in Forbes that the hype about aducanumab was "entirely excessive." Furthermore, he wrote that "there is a very real risk that some of the coverage unreasonably raises hopes of helping current patients."

Gibbs, the retired neurologist, had finished his initial 18 months in the study by then and chose to receive the drug in an extension study. He kept up his monthly flights to San Francisco until a common side effect brain swelling forced him to stop. He recovered, and thought it could be a good sign, as did many researchers, that the drug was removing plaque.

Then in March 2019 Biogen said it was stopping the trial early after a data-monitoring committee said it wasn't doing any good. The drug removed amyloid plaque but didn't slow the progression of dementia. Just three months earlier, Roche had pulled the plug on a big study of its amyloid antibody.

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The invention of a disease and the pursuit of one molecule - WNIJ and WNIU

Findings to be presented cover broad range of scientifically and clinically relevant areas including schizophrenia, sex development, cancer and muscular dystrophy

SAN DIEGO, Oct. 16, 2019 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO) today announced that disease researchers using Bionanos Saphyr system for whole genome imaging will present their results at the American Society of Human Genetics (ASHG) Annual Meeting, between October 15-19 in Austin, Texas.

The impact of analysis using the Saphyr system for ultra-sensitive and ultra-specific genome-wide detection of structural variation will be presented at ASHG with 22 oral and poster presentations and an Educational Event hosted by Bionano.

ASHG 2019 represents a milestone for Bionano, with a record number of presentations demonstrating novel discoveries through our genome mapping technology, said Erik Holmlin, Ph.D., CEO of Bionano. The growing use of the Saphyr system in disease research illustrates the value in identifying genomic variations for deep understanding of disease origin and diagnostic development.

Optical mapping through Saphyr enables the direct observation of large genomic variations through imaging of fluorescently labeled, megabase-size native DNA molecules. Next-generation sequencing (NGS), in contrast, relies on short-reads that piece together sequence fragments in an attempt to rebuild the actual structure of the genome. NGS often misses large DNA variations, such as deletions, insertions, duplications, and translocations and inversions. Genome mapping resolves these structural variations for more insight into the genetic variations that cause disease.

Below is a summary of key presentations to be given at ASHG 2019 featuring the use of optical genome mapping:

Genetic diagnosis of sex development disorders through optical mappingHalf of disorders of sex development (DSD) patients lack a firm diagnosis. Prof. Eric Vilain, from George Washington University and Childrens National Medical Center, will present research validating the diagnostic and gene discovery use of Bionano genome mapping to identify structural variants in patients with DSD. The talk, entitled Integration of optical genome mapping and sequencing technologies for identification of structural variants in DSD, will be presented on Wed. Oct. 16 at 5:15 - 5:30 pm in the convention center Level 3, Room 361D.

Genomic mapping has the potential to replace a combination of current cytogenetic techniquesCurrently, a comprehensive clinical analysis of genomic aberrations requires a combination of various assays such as CNV-microarrays, karyotyping and fluorescence in situ hybridization (FISH). Dr. Tuomo Mantere, from Radboud University Medical Center, will present data directly comparing traditional cytogenetic assays with Bionano mapping in leukemia patient samples to illustrate that genome mapping can identify all aberrations found by the three conventional technologies combined, and additional variants as well. The poster, entitled Next-generation cytogenetics: High-resolution optical mapping to replace FISH, karyotyping and CNV-microarrays will be presented on Thurs. Oct. 17, between 2 - 3pm, PgmNr 2533/T.

Genomic architecture reveals critical factors that may contribute to schizophrenia-associated 3q29 chromosomal deletionDeletions at the 3q29 chromosomal locus are associated with a 40-fold increase in risk for schizophrenia. Knowing the features that contribute to genomic instability is critical for identifying risk factors of chromosomal deletions. Trenel Mosley, from Emory University, will present the discovery of novel genomic structural characteristics found in 12 patients with 3q29 deletion and their parents using Saphyr. The poster entitled, Optical mapping of the schizophrenia-associated 3q29 deletion reveals new features of genomic architecture, will be presented on Wed. Oct. 16, between 2 - 3pm, PgmNr 1389/W.

Bionano and NGS resolve complex rearrangements in extrachromosomal, circular DNA in glioblastoma The rapid growth of aggressive tumors such as glioblastoma is partially caused by the rapid amplification of oncogenes in circular structures outside of native chromosomes. Because these structures do not occur in the reference genome, standard analysis methods fail to correctly assemble them. Jens Luebeck, from the University of California, San Diego, demonstrates that a combination of Bionano genome mapping and NGS resolves important breakpoints and gene amplifications in extrachromosomal DNA. The talk, entitled Integrated Analysis of NGS and Optical Mapping Resolves the Complex Structure of Highly Rearranged Focal Amplifications in Cancer, will be presented on Sat. Oct. 19, from 10:15 - 10:30am PgmNr: 323

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Bionano Educational Event will feature research on muscular dystrophy, prenatal development & neurodegenerative disordersAt Bionanos educational event, Dr. Alka Chaubey from Perkin Elmer Genomics, Dr. Frances High from Mass General Hospital for Children, and Dr. Mark Ebbert from the Mayo Clinic will present findings from their work using the Saphyr system for structural genomic resolution. Analysis of chromosomal repeats, complex genomic haplotypes, and risk loci found in genetic disease will be highlighted by the speakers. Entitled Resolving Structural Variants Across the Whole Genome to Power Your Next Discovery in Human Genetics, the event will take place on Thurs. Oct 17, from 12:45 - 2:00pm at the Marriott Marquis, Houston, River Oaks, Level 3, and include a complimentary lunch.

Additional presentations featuring optical genome mapping:

High Throughput Analysis of Tandem Repeat Contraction Associated with Facioscapulohumeral Muscular Dystrophy (FSHD) by Optical MappingPresented by Jian Wang, Bionano GenomicsWed. Oct. 16, 2 - 3pm PgmNr: 2535/W

Full Genome Analysis for Identification of Single Nucleotide and Structural Variants in Genes that Cause Developmental DelayPresented by Hsiao-Jung Kao, Academia SINICAWed. Oct. 16, 2 - 3pm PgmNr: 2547/W

A Robust Benchmark for Germline Structural Variant DetectionPresented by Justin Zook, National Institute of Standards and TechnologyWed. Oct. 16, 2 - 3pm PgmNr: 1695/W

De Novo Genome Assembly and Phasing for Undiagnosed ConditionsPresented by Joseph Shieh, University of California, San FranciscoWed. Oct. 16, 2 -3 pm PgmNr: 2529/W

Bionano Prep SP Isolates High Quality Ultra-high Molecular Weight (UHMW) Genomic DNA to Improve Research of Cancer and Undiagnosed DisordersPresented by Henry Sadowski, Bionano GenomicsWed. Oct. 16, 3 - 4pm PgmNr: 2598/W

nanotatoR: An Annotation Tool for Genomic Structural VariantsPresented by Surajit Bhattacharya, Childrens National Medical CenterWed. Oct. 16, 3 - 4pm PgmNr: 1506/W

Detection, Characterization, and Breakpoint Refinement of Balanced Rearrangements by Optical Mapping in Clinical CasesPresented by Alex Hastie, Bionano Genomics + LabCorpThurs. Oct. 17, 2 - 3pm PgmNr: 2569/T

Genetic/epigenetic Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) via Optical MappingPresented by Yi-Wen Chen, Childrens National Medical CenterThurs. Oct. 17, 2 - 3pm PgmNr: 2533/T

Comprehensive Analysis of Structural Variants in Clinical Cancer SamplesPresented by Ernest Lam, Bionano GenomicsThurs. Oct. 17, 3 - 4pm PgmNr: 1060/T

Advanced Structural Analysis of CDH Risk Loci with Optical Genome Mapping TechnologyPresented by Mauro Longoni, Massachusetts General HospitalThurs. Oct. 17, 3 - 4pm PgmNr: 2578/T

Structural Variants Associated with GWAS SNPs Provide Mechanistic Explanation of Phenotypic AssociationsPresented by Seth Berger, Childrens National Medical CenterThurs. Oct. 17, 3 - 4pm PgmNr: 2254/T

The Complete Linear Assembly and Methylation Map of Human Chromosome 8Presented by Glennis Logsdon, University of WashingtonFri. Oct. 18, 1 - 2pm PgmNr: 1703/F

High Throughput High Molecular Weight DNA Extraction from Human Tissues for Long-read SequencingPresented by Kelvin Liu, CirculomicsFri. Oct. 18, 1 - 2pm PgmNr: 1769/F

Optical Mapping for Chromosomal Abnormalities: A Pilot Feasibility Study for Clinical UsePresented by Gokce Toruner, UT MD Anderson Cancer CenterFri. Oct. 18, 1 - 2pm PgmNr: 2447/F

Comprehensive Detection of Germline and Somatic Structural Mutation in Cancer Genomes by Bionano Genomics Optical MappingPresented by Mark Ebbert, Mayo ClinicFri. Oct. 18, 2 - 3pm PgmNr: 1760/F

Dark and Camouflaged Genes May Harbor Disease-relevant Variants that Long-read Sequencing Can ResolvePresented by Andy Pang, Bionano GenomicsFri. Oct. 18, 2 - 3pm PgmNr: 1814/F

Bionano Genomics Sample to Answer Workflow for Single Molecule Analysis of Variation in Genome StructurePresented by Sven Bocklandt, Bionano GenomicsFri. Oct. 18, 2 - 3pm PgmNr: 1838/F

Draft Assembly of an Armenian GenomePresented by Hayk Barseghyan, Childrens National Medical CenterFri. Oct. 18, 2 - 3pm PgmNr: 2342/F

About Bionano GenomicsBionano is a life sciences instrumentation company in the genome analysis space. Bionano develops and markets the Saphyr system, a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline digital cytogenetics, which is designed to be a more systematic, streamlined and industrialized form of traditional cytogenetics. The Saphyr system comprises an instrument, chip consumables, reagents and a suite of data analysis tools. For more information, visit http://www.bionanogenomics.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, including among other things: the timing and content of the presentations identified in this press release; and the ability of genome mapping to perform comprehensive clinical analysis as well as conventional technologies. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks that our sales, revenue, expense and other financial guidance may not be as expected, as well as risks and uncertainties associated with general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of key clinical studies to demonstrate the effectiveness of our products; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2018 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

ContactsCompany Contact:Mike Ward, CFOBionano Genomics, Inc.+1 (858) 888-7600mward@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 775-5956arr@lifesciadvisors.com

Media Contact:Kirsten ThomasThe Ruth Group+1 (508) 280-6592kthomas@theruthgroup.com

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Top Researchers to Present Discoveries Made Possible by Bionanos Saphyr System for Genome Imaging Technology at the ASHG 2019 Annual Meeting - Yahoo...

CLEMSON, South Carolina Clemson University College of Science professor Hong Luo has received a $500,000 grant from the U.S. Department of Agriculture National Institute of Food and Agriculture to develop genetically improved and more robust turfgrass and switchgrass. These perennial plants represent a multibillion-dollar segment of the U.S. agricultural economy.

Hong Luo, professor of genetics and biochemistry.

Covering millions of acres on golf courses, athletic fields, cemeteries and parks nationwide, turfgrasses require large amounts of water to remain healthy, which leaves them particularly vulnerable to extreme heat and drought. We want to develop technologies that improve turfgrass so it becomes more stress-resistant, said Luo, a professor in the department of genetics and biochemistry. If we can genetically improve the plants then they will need much less water.

The tall, hearty switchgrass plant is a promising biofuel crop that could someday produce greater ethanol yields than corn. In addition, switchgrass is considered a weed and can grow in poor soil conditions and requires less water and fertilizer than corn.

A key challenge to engineering better turf and switchgrass is preventing lab-engineered genes from escaping into the non-modified grasses or weeds growing in nearby fields. This type of transfer could have unpredictable environmental consequences. Scientists agree that one of the most effective ways to prevent this spillover is to produce completely sterile grass plants.

The purpose of this newly funded research is to develop a molecular strategy and achieve trans-gene containment, while producing a clean final product or plant that is environmentally safe, Luo said.

Luos approach to containing the engineered genes is to integrate two site-specific DNA recombination systems with total sterility induction mechanisms in the final transgenic product.

The first line will contain three active genes for Cre recombinase, hygromycin resistance (hyg) and endonuclease Cas9, and an inactive RNAi expression cassette for a flowering control gene, FLO/LFY homolog. The second line will contain an active herbicide resistance gene bar, recombinase gene phiC31 and FLO/LFY homolog gene guide RNA (sgRNA), and an inactive stress-regulating rice SUMO E3 ligase gene, OsSIZ1.

When Luo cross-pollinates the two lines in the lab, certain genes will activate and others will be removed, resulting in a new genetic line that is completely sterile and more stress-resistant. These new plants will not produce pollen or seeds, making it impossible for the modified genes to spread in the wild.

Luo anticipates having a genetically modified new line ready for testing at the end of the four-year research project. If all goes well, the new transgenic line would then be ready for the stringent U.S. Department of Agriculture (USDA) field tests before it could potentially be commercialized.

Luo is familiar with the development and testing process. Before joining the Clemson faculty, he was the director of research at HybriGene Inc., where he led the development of the first genetically engineered, environmentally safe, male-sterile and herbicide-resistant turfgrass. He also helped create a new method for hybrid crop production using site-specific DNA recombination systems.

This material is based upon work supported by the U.S. Department of Agriculture (USDA) National Institute of Food and Agriculture (NIFA) under Grant No.2019-33522-30102. Any opinions, findings and conclusions or recommendations expressed in this material are those of the authors and do not necessarily reflect the views of NIFA.

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Clemson researcher developing perennial grasses that could reduce water use and be fuel source - Clemson University

The Graduate School has just published a piece by MGM student, Nicole Stantial, and her teammates from the Emerging Leaders Institute on the project they executed to help graduate students and postdocs better understand U.S. health insurance. You can find the piece here: https://gradschool.duke.edu/professional-development/blog/understanding-duke-health-insurance-emerging-leaders-institute-project

Yadav receives Young Scientist Award. Vikas Yadav, a Postdoc in Joe Heitmans lab, receives Young Scientist awards from two science academies National Academy of Science, India (NASI) and Indian National Science Academy (INSA). The awards (INSA Medal for Young Scientist and NASI-Young Scientist Platinum Jubilee) are being given for his research work during his PhD with Prof. Kaustuv Sanyal at JNCASR, Bengaluru, India in a collaboration with the Heitman lab. The awards are considered to be the highest recognition of promise, creativity and excellence in a young Scientist. He characterized centromeres in the human fungal pathogen, Cryptococcus neoformans and identified the role of RNAi machinery in the regulation of centromeres length and structure. This work along with his other contributions was published in PNAS, PLoS biology, mBio and mSphere. Please click here to read more on this accomplishment.

Hoye Awarded a F32 from NINDS. Mariah Hoye, a postdoc in Debby Silvers lab, was recently awarded a F32 from NINDS for her work on a new intellectual disability gene, DDX3X, which codes for an RNA helicase. Previous work in the lab found that depletion of Ddx3x during embryonic brain development led to more neural progenitors and less neurons in mice. Dr. Hoye is now using a conditional knockout mouse to better understand the unique requirements for Ddx3x in neural progenitors and neurons during brain development. Specifically, Dr. Hoye is interested in understanding how DDX3X controls neural progenitor fate decisions, as loss of Ddx3x impairs neurogenesis. As an RNA helicase, DDX3X functions in multiple aspects of RNA processing, but has a prominent role in translation initiation of mRNAs with highly structured 5 UTRs. Dr. Hoye is employing a genome-wide translational analysis, ribosome footprinting, to identify mRNAs in neural progenitors which require DDX3X for their translation. Identifying these DDX3X-dependent mRNAs may inform mRNAs whose translation is required for neural progenitor fate decisions

Congratulations to Giny Fouda (secondary MGM Faculty) and Eleanor Semmes and Stephen Kirchner who are both MD/PhD students in MGM who were elected to the Duke University School of Medicine chapter of the Alpha Omega Alpha Medical Honor Society for the fall 2019. Twice a year the Alpha Omega Alpha (AOA) Medical Honor Society elects a small number of new members. The criteria include scholastic achievement, leadership capabilities, ethical standards, fairness in dealing with colleagues, demonstrated professionalism, achievement and/or potential for achievement in medicine, and a record of service to the school and community at large. Membership in AOA is a distinction that accompanies a physician throughout his or her career. In the fall the society elects a small number of faculty and alumni. The competition is especially stiff for faculty as only 3 are elected each year.

Celebration for Jinks-Robertson. The Department of Molecular Genetics and Microbiology held a special celebration to honor Sue Jinks-Robertson, PhD, Professor and co-Vice Chair in the department, on being elected to the National Academy of Sciences.

please click here for more photos

Congratulations Jackie Lin.Please congratulate Jackie Lin on her acceptance to medical school at the University of California San Francisco. Jackie was an undergraduate researcher in the Heitman lab.

Passing of Dr. Wolfgang Bill Joklik. It is with great sadness to inform you that Dr. Wolfgang Bill Joklik, Virologists and James B. Duke Professor Emeritus of Molecular Genetics and Microbiology, died in Durham, North Carolina on July 7, 2019. He chaired the department for 25 years.

In 1981 Dr. Joklik founded the American Society for Viriology, the first scientific society specifically for virologists, and served a two-year term as its founding president.

Trained as a biochemist, Dr. Joklik was one of the pioneers of Molecular Virology. His work on the mechanisms underlying how viruses infect cells, multiply and cause disease laid the groundwork for the development of vaccines and antiviral agents. He published more than 250 research papers and reviews, and for 25 years was Editor-in-Chief of and a major contributor to Zinsser Microbiology, one of the two leading texts for medical students. He was Editor-in-Chief of Virology, the primary journal in its field, for eighteen years. He was a member/chairman of numerous Study Sections and Committees of the National Institutes of health and the American Cancer Society.

The Joklik Distinguished Lectureship, founded in MGM in 2010 is held annually to honor Dr. Joklik. The tenth annual Joklik lecturer this year will be Tom Shenk from Princeton. His talk will be presented at the annual MGM Departmental Retreat, September 6-8, 2019 in Wrightsville Beach, NC.

Please join in extending your deepest condolences to Dr. Jokliks entire family and community of friends.

A mass of Christian burial for Dr. Joklik will be offered on Friday, July 12, 2019 at 10:00am at Immaculate Conception Catholic Church in Durham, NC.

To read the entire obituary, please click here .

The flags on Duke Universitys campus have been lowered to half staff in honor of Dr. Joklik.

Dr. Jokliks Lifetime Achievement Award Video (produced in 2013)

Kutsch receives German Research Foundation (DFG) fellowship. Congratulations to Miriam Kutsch, postdoc in the Coers lab, on being awarded this fellowship. The 2-year DFG research fellowship is intended to support German early career scientists conducting innovative research at an international institution. Miriams research aims to understand an immune defense program directed at bacteria entering the host cell cytosol of human cells. In her research, she applies innovative biochemical and cell biological approaches to determine how the human defense protein GBP1 catches and conquers bacterial invaders.

Sullivan named Associate Dean for Research Training. Beth Sullivan, PhD, Associate Professor of Molecular Genetics and Microbiology has been named Associate Dean for Research Training for the Duke School of Medicine. Dr. Sullivan, a human geneticist whose lab studies mechanisms of genome stability and centromere function, will oversee the Office of Biomedical Graduate Education and coordinate activities with the Office for Postdoctoral Affairs. She will provide leadership and broad strategic vision for all areas related to research training for biomedical Ph.D. students and postdoctoral appointees. Learn more at the Duke Med School blog: click here.

JNCASR has been featured in the top 10 list of Nature Index normalized ranking. Jawaharlal Nehru Centre for Advanced Scientific Research (JNCASR) (www.jncasr.ac.in)is a multidisciplinary research institute situated in Bangalore, India. It is relatively young yet well-known around the world. The mandate of JNCASR is to pursue and promote world-class research and training at the frontiers of Science and Engineering covering broad areas ranging from Materials to Genetics. It provides a vibrant academic ambience hosting more than 300 researchers and around 50 faculty members. The Centre is funded by the Department of Science and Technology, Government of India and is a deemed university. JNCASR has been featured in the top 10 among the academic instituions in a recently published Nature Ranking (normalized) 2018 (https://www.nature.com/articles/d41586-019-01924-x). Kaustuv Sanyals group (www.jncasr.ac.in/sanyal) at JNCASR collaborates extensively with Joe Heitmans group in the Duke University Medical Center. This collaboration led to many discoveries and publications including a recent paper in PNAS that has been cosidered for JNCASRs recent ranking.

Heitman and Heaton receive ASM Award at the 2019 ASM Microbe Meeting. Joseph Heitman, M.D., Ph.D., James B. Duke Professor and Chair of the Department of Molecular Genetics and Microbiology and Nicholas Heaton, Ph.D., Assistant Professor in the Department of Molecular Genetics and Microbiology, received the 2019 ASM Microbe Award at the 2019 ASM Microbe conference in San Francisco, CA (June 20-25, 2019). ASM Microbe tweeted the awards here.

Congratulations Daniel Snellings.MGM graduate student Dan Snellings won first prize for best Oral Presentation in the Basic Sciences Category at the International Scientific Conference on Hereditary Hemorrhagic Telangiectasia, held in Rio Grande, Puerto Rico last week. This conference, held every two years, brings together physicians and scientists from around the world who are studying this hereditary vascular disease. Dans presentation showcased his discovery that the vascular malformations in HHT contain bi-allelic (germline plus somatic) mutations in the causative genes. His work overturns a long-standing but incorrect assumption that HHT is caused by haploinsufficiency of the gene product.

Martinez featured on Duke Health News for a recent study published in Cell. David Martinez, PhD, Postdoctoral Associate in the Department of Molecular Genetics and Microbiology along with Dr. Sallie Permar conducted research focusing on improving maternal vaccines that also protect newborns. To read more about the research, click here. To read the full manuscript, click here.

To read more, click here.

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MGM genetics, mycology, virology, bacteriology, graduate ...

The Department of Molecular Genetics is administered from the Medical Sciences Building and has nearly 100 faculty members whose labs are located within the Medical Science Building, the Best Institute, the Donnelly Centre for Cellular and Biomolecular Research, the FitzGerald Building, the Hospital for Sick Children, Mount Sinai Hospital, the Ontario Institute for Cancer Research, and Princess Margaret Hospital.

The Master of Science and Doctor of Philosophy programs in Molecular Genetics offer research training in a broad range of genetic systems from bacteria and viruses to humans. Research projects include DNA repair, recombination and segregation, transcription, RNA splicing and catalysis, regulation of gene expression, signal transduction, interactions of host cells with bacteria and viruses, developmental genetics of simple organisms (worms and fruit flies) as well as complex organisms (mice), molecular neurobiology, molecular immunology, cancer biology and virology, structural biology, and human genetics and gene therapy.

Students may also be interested in the combined degree program inMedicine, Doctor of / Doctor of Philosophy (MD/PhD).

See video Explore Graduate Programs at the Faculty of Medicine

Molecular GeneticsMSc, MD/PhD, Ph

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Molecular Genetics - University of Toronto

AboutMetabolic Consultation

Recently, the State of Ohio Department of Health enacted an expansion of our Newborn Screening Program that now screens babies for 36 different inherited disorders. Many of these conditions are exceedingly rare and require specialized testing and restricted diets or medications that are usually outside the realm of expertise for a typical pediatric practice.

The Metabolic Clinic at Children's Hospital is uniquely positioned to provide detailed and comprehensive diagnostic evaluations as well as long-term management for disorders of amino acid, carbohydrate and fatty acid metabolism. The clinic is staffed by two Board-certified Biochemical Geneticists, a Metabolic nurse and two dietitians with extensive experience in the treatment of metabolic disease. On-site laboratory support includes capabilities for measuring amino acids, organic acids, and acylcarnitines, using state-of-the-art technology including tandem mass spectrometry. Patients with a wide variety of disorders including PKU, MUSD, galactosemia, glocogen storage diseases, mucopolysacharidoses, and urea cycle defects receive genetic counseling and coordinated care using a team approach in this clinic.

The Metabolic Clinic is held on Monday afternoons in Suite T4D at Nationwide Children's Hospital. For further information, or to make an appointment, please call (614) 722-3543

We currently have a two-year Medical Genetics and four-year combined Pediatrics/Medical Genetics residency program at our institution. For more information about the program, feel free to visit the Medical Genetics Residency webpage.

Genetics ClinicTower Building, 4th Floor, Suite D700 Children's DriveColumbus, OH 43205(614) 722-3535FAX (614) 722-3546Metabolic ClinicTower Building, 4th Floor, Suite D700 Childrens DriveColumbus, OH 43205(614) 722-3543FAX (614) 722-3546Dublin Genetics ClinicDublin Medical Office Building5665 Venture DriveDublin, OH 43017(614) 722-3535FAX (614) 722-3546Tuesdays all day

Westerville Genetics ClinicClose To Home Center on N. Cleveland AvenueWesterville, OH 43082(614) 722-3535FAX (614) 722-3546Mondays 12:30 pm 5:00pm

Athens Outreach278 W. Union StreetAthens, OH 45701To schedule, call: (614) 592-4431FAX (614) 594-9929Held bimonthly on a Wednesday

Marietta OutreachMarietta City Health Department304 Putnam StreetMarietta, OH 45750To schedule, call: (740) 373-0611FAX (740) 376-2008Held bimonthly on a Wednesday

Waverly OutreachPike County General Health District14050 US23 NWaverly, Ohio 45690To schedule, call: (614) 722-3535Fax referral to: (614) 722-3546Office Phone: (740) 947-7721Office Fax (740) 947-1109Held bimonthly on a Wednesday

Zanesville OutreachMuskingham Valley Health Care719 Adair AvenueZanesville, Ohio 43701To schedule, call: (614) 722-3535Fax referral to: (614) 722-3546Held bimonthly on a Wednesday

22q CenterNationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 962-6373

Complex Epilepsy Clinic (Epilepsy Center)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000

Cleft Lip and Palate CenterNationwide Childrens Hospital700 Children's DriveSuite T5EColumbus, Ohio 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 962-6366Tues. 12:30 pm 5 pm

Cystic Fibrosis ClinicOutpatient Care Center, 5th Floor555 S. 18th StreetColumbus, OH 43205Phone: (614) 722-4766Fax: (614) 722-4755Tues PM, Wed PM, and Thurs PM

Down Syndrome Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-4050

Muscular Dystrophy Association(MDA)/Spinal Muscular Atrophy (SMA) ClinicOutpatient Care Center, 1st Floor555 S. 18th StreetColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-2203Wednesdays

Myelomeningocele Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-4050Friday AM

Prader-Willi Syndrome Clinic (Endocrinology)Outpatient Care Center, 5th Floor555 S. 18th StreetColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-44252nd Friday of the month

Williams Syndrome Clinic (Developmental and Behavioral Pediatrics)Nationwide Childrens Hospital700 Childrens DriveColumbus, OH 43205(614) 722-6200FAX (614) 722-4000Office phone (614) 722-40502nd Tuesday of the month

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Genetics (Molecular and Human) - nationwidechildrens.org

Overview

The Division of Molecular Genetics and the Leibel Laboratory focus on the genetics of obesity and non-insulin dependent diabetes (diabetes mellitus type 2). The laboratory has mapped, cloned, and identified mutations in the obese, diabetes, and fatty genes in humans, rats, and mice, and focuses on defining the physiological basis by which signaling networks regulate body size and composition. The laboratory is also the Molecular Biology Core laboratory of the New York Obesity Research Center and the Columbia Diabetes Research Center.

Members of the lab are experts in the use of naturally occurring and transgenic rodent models to identify candidate molecules, and in vetting these candidates in large numbers of human subjects using high throughput methods (SNP detection, copy number analysis, and high throughput sequencing).

The division also co-administers research activities for the Naomi Berrie Diabetes Center, making this a division that operates across many scientific and administrative areas of the university.

Programs and centers include:

The Division of Molecular Genetics provides opportunities for graduate students to receive training and mentorships leading to a doctorate degree. Interested students who have been accepted into the Columbia University Graduate School of Arts and Sciences can rotate through our laboratories before deciding whether to consider their research projects in our labs under the mentorship of our faculty.

Frontiers in Diabetes Research provides fellowship awards to post docs and awards to research scholars based on a competitive application process. Award recipients receive awards for one year, with the opportunity to continued research support for a second year. This program includes an annual topic-specific research symposium.

Russell Berrie Obesity Research Initiative (Leibel and Zuker) provides awards to senior investigators for research projects in the area of neuroscience of ingestive behavior and body weight regulation. Additional awards are made for and feasibility studies. There is a competitive application process each year. Awards may be made for one year, with the opportunity for a second year of funding.

The Molecular Genetics Fellowship is a non-ACGME accredited program that provides opportunities for postdoctoral training in the genetic basis for monogenic or complex medical and physiological phenotypes using both human and animal models. Areas of special interest are obesity, types 1 and 2 diabetes, MODY, breast cancer, pulmonary hypertension, congenital heart disease, cardiomyopathies, inherited arrhythmias, congenital diaphragmatic hernias, oral clefts, and spinal muscular atrophy.

The Division of Molecular Genetics was created in 1997 with the recruitment of Rudolph Leibel, MD as division chief.

Link:
Molecular Genetics | Department of Pediatrics

In molecular cloning, a vector is a DNA molecule used as a vehicle to artificially carry foreign genetic material into another cell, where it can be replicated and/or expressed (e.g.- plasmid, cosmid, Lambda phages). A vector containing foreign DNA is termed recombinant DNA. The four major types of vectors are plasmids, viral vectors, cosmids, and artificial chromosomes. Of these, the most commonly used vectors are plasmids.[1] Common to all engineered vectors are an origin of replication, a multicloning site, and a selectable marker.

The vector itself is generally a DNA sequence that consists of an insert (transgene) and a larger sequence that serves as the "backbone" of the vector. The purpose of a vector which transfers genetic information to another cell is typically to isolate, multiply, or express the insert in the target cell. All vectors may be used for cloning and are therefore cloning vectors, but there are also vectors designed specially for cloning, while others may be designed specifically for other purposes, such as transcription and protein expression. Vectors designed specifically for the expression of the transgene in the target cell are called expression vectors, and generally have a promoter sequence that drives expression of the transgene. Simpler vectors called transcription vectors are only capable of being transcribed but not translated: they can be replicated in a target cell but not expressed, unlike expression vectors. Transcription vectors are used to amplify their insert.

The manipulation of DNA is normally conducted on E. coli vectors, which contain elements necessary for their maintenance in E. coli. However, vectors may also have elements that allow them to be maintained in another organism such as yeast, plant or mammalian cells, and these vectors are called shuttle vectors. Such vectors have bacterial or viral elements which may be transferred to the non-bacterial host organism, however other vectors termed intragenic vectors have also been developed to avoid the transfer of any genetic material from an alien species.[2]

Insertion of a vector into the target cell is usually called transformation for bacterial cells,[3] transfection for eukaryotic cells,[4] although insertion of a viral vector is often called transduction.[5]

Plasmids are double-stranded extra chromosomal and generally circular DNA sequences that are capable of replication using the host cell's replication machinery.[6] Plasmid vectors minimalistically consist of an origin of replication that allows for semi-independent replication of the plasmid in the host. Plasmids are found widely in many bacteria, for example in Escherichia coli, but may also be found in a few eukaryotes, for example in yeast such as Saccharomyces cerevisiae.[7] Bacterial plasmids may be conjugative/transmissible and non-conjugative:

Plasmids with specially-constructed features are commonly used in laboratory for cloning purposes. These plasmid are generally non-conjugative but may have many more features, notably a "multiple cloning site" where multiple restriction enzyme cleavage sites allow for the insertion of a transgene insert. The bacteria containing the plasmids can generate millions of copies of the vector within the bacteria in hours, and the amplified vectors can be extracted from the bacteria for further manipulation. Plasmids may be used specifically as transcription vectors and such plasmids may lack crucial sequences for protein expression. Plasmids used for protein expression, called expression vectors, would include elements for translation of protein, such as a ribosome binding site, start and stop codons.

Viral vectors are generally genetically engineered viruses carrying modified viral DNA or RNA that has been rendered noninfectious, but still contain viral promoters and also the transgene, thus allowing for translation of the transgene through a viral promoter. However, because viral vectors frequently are lacking infectious sequences, they require helper viruses or packaging lines for large-scale transfection. Viral vectors are often designed for permanent incorporation of the insert into the host genome, and thus leave distinct genetic markers in the host genome after incorporating the transgene. For example, retroviruses leave a characteristic retroviral integration pattern after insertion that is detectable and indicates that the viral vector has incorporated into the host genome.

Artificial chromosomes are manufactured chromosomes in the context of yeast artificial chromosomes (YACs), bacterial artificial chromosomes (BACs), or human artificial chromosomes (HACs). An artificial chromosome can carry a much larger DNA fragment than other vectors.[8] YACs and BACs can carry a DNA fragment up to 300,000 nucleotides long. Three structural necessities of an artificial chromosome include an origin of replication, a centromere, and telomeric end sequences.[9]

Transcription of the cloned gene is a necessary component of the vector when expression of the gene is required: one gene may be amplified through transcription to generate multiple copies of mRNAs, the template on which protein may be produced through translation.[10] A larger number of mRNAs would express a greater amount of protein, and how many copies of mRNA are generated depends on the promoter used in the vector.[11] The expression may be constitutive, meaning that the protein is produced constantly in the background, or it may be inducible whereby the protein is expressed only under certain condition, for example when a chemical inducer is added. These two different types of expression depend on the types of promoter and operator used.

Viral promoters are often used for constitutive expression in plasmids and in viral vectors because they normally force constant transcription in many cell lines and types reliably.[12] Inducible expression depends on promoters that respond to the induction conditions: for example, the murine mammary tumor virus promoter only initiates transcription after dexamethasone application and the Drosophilia heat shock promoter only initiates after high temperatures.

Some vectors are designed for transcription only, for example for in vitro mRNA production. These vectors are called transcription vectors. They may lack the sequences necessary for polyadenylation and termination, therefore may not be used for protein production.

Expression vectors produce proteins through the transcription of the vector's insert followed by translation of the mRNA produced, they therefore require more components than the simpler transcription-only vectors. Expression in different host organism would require different elements, although they share similar requirements, for example a promoter for initiation of transcription, a ribosomal binding site for translation initiation, and termination signals.

Eukaryote expression vectors require sequences that encode for:

Modern artificially-constructed vectors contain essential components found in all vectors, and may contain other additional features found only in some vectors:

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Vector (molecular biology) - Wikipedia

I welcome you to the Department of Microbiology and Molecular Genetics. Our department is uniquely positioned in two colleges at the University of Vermont: the Robert Larner, M.D., College of Medicine (LCOM) and the College of Agriculture and Life Sciences (CALS). At CALS, MMG hosts two outstanding undergraduate majors, Microbiology and Molecular Genetics. Our highly-recognized faculty educators work closely with our undergraduate students throughout their years at UVM as they become excellent scientists and innovative, critical thinkers. At LCOM, our faculty are closely engaged with teaching and training medical students, as well as graduate students, in our Cellular, Molecular and Biomedical Sciences (CMB) Ph.D. program and Medical Masters program.

Our faculty are highly focused on research, which spans from basic-science inquiry in the fields of Microbiology; Cell, Molecular and Structural biology; to applied and translational research in human immunology, vaccine, and bioinformatics and genetics. MMG hosts a nationally recognized team exploring the mechanisms of DNA Repair, research that is critically important to human diseases, including cancer. The recent addition of the UVM Vaccine Testing Center team to MMG complements our research portfolio by adding significant new depth in clinical and translational human immunology and vaccinology, as well as U.S.-based and international clinical trials, all with a focus on preventing and controlling infectious diseases of global importance.

Thank you for your interest in MMG. We look forward to hearing from you!

Beth Kirkpatrick, M.D.Professor and Chair, Department of Microbiology and Molecular GeneticsDirector, Vaccine Testing Center

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Department of Microbiology and Molecular Genetics

Committed to exploring new frontiers in basic and translational research.

The Department of Biochemistry and Molecular Genetics is an integral part of the vibrant biomedical research community at the University of Alabama at Birmingham (UAB). UAB ranks among the top public institutions of higher education in terms of research and training awards. Research conducted by the faculty, staff, and students of the Department of Biochemistry and Molecular Genetics is currently supported by more than $4.3 million per year in extramural, investigator-initiated grants.

The Department of Biochemistry and Molecular Genetics carries out cutting-edge basic and translational research. Research strengths in the department includes cancer biology, chromatin and epigenetic signaling, metabolism and signaling, regulation of gene expression, structural biology, DNA synthesis and repair, and disease mechanisms.

Graduate students and postdoctoral fellows in the Department of Biochemistry and Molecular Genetics are trained to carry out hypothesis-driven research using advanced research techniques. This training will prepare our graduates for a career in not just biomedical research, but also in other diverse fields that require critical thinking. Our faculty also proudly trains professional (MD, DDS, & DO) students, as well as undergraduate students at UAB.

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UAB - School of Medicine - Biochemistry and Molecular ...

List of Genetics & Molecular Biology Conferences 5th World Congress on Synthetic Biology and Advanced Biomaterials September 19-20, 2018 Tokyo, Japan2nd Annual summit on Cell Metabolism and Cytopathology September 19 - 20, 2018 Philadelphia, USA2nd Annual summit on Cell Signaling and Cancer Therapy September 19 - 20, 2018 Philadelphia, USA5th International Conference on Human Genetics and Genetic Diseases September 21-22, 2018 Philadelphia, USA11th International Conference on Genomics and Pharmacogenomics September 21-22, 2018 Philadelphia, USA10th Annual Conference on Stem Cell and Regenerative Medicine October 08-09, 2018 Zurich, Switzerland21st European Biotechnology Congress October 11-12, 2018 Moscow, Russia11th Annual Conference on Stem Cell and Regenerative Medicine October 15-16, 2018 Helsinki, FinlandAnnual Congress on Cellular Therapies, Cancer, Stem Cells and Bio Medical Engineering October 17-18, 2018 New York, USA11th International Conference on Tissue Engineering & Regenerative Medicine October 18-20, 2018 Rome, Italy4th International Conference on Synthetic Biology and Tissue Engineering October 18-19, 2018 Rome, ItalyAnnual congress on CRISPR-Cas9 Technology and Genetic Engineering October 24-25, 2018 Boston, USA24th Biotechnology Congress: Research & Innovations October 24-25, 2018 Boston, USA2nd Annual Summit on Cell Therapy, Tissue Science and Regenerative Medicine November 9-10, 2018 Atlanta, USA2nd Annual Summit on Stem Cell Research, Cell and Gene Therapy November 9-10, 2018 Atlanta, USA12th International Conference & Exhibition on Tissue Preservation, Life care and Biobanking (B2B & Networking) November 9-10, 2018 Philadelphia, USA9th International conference on Tissue Science and Regenerative Medicine November 12-13, 2018 Singapore City, Singapore4th International Conference on Advances in Biotechnology and Bioscience November 15-17, 2018 Berlin, Germany5th World Congress on Epigenetics and Chromosome November 15-16, 2018 Istanbul, Turkey22nd World Congress on Biotechnology November 19-20, 2018 Bangkok, ThailandInternational Epigenetics and Epitranscriptomics Conference November 26-27, 2018 Helsinki, Finland8th International Conference on Cell & Gene Therapy November 27-28, 2018 Athens, Greece3rd World Biotechnology Congress Dec 03-04, 2018 Sao Paulo, BrazilInternational Conference on Biotechnology and Health Care December 06-07, 2018 Hanoi, Japan11th World Congress on Cell Science, Stem Cell Research & Regenerative Medicine December 07-08, 2018 Chicago, USA13th Annual Conference on Stem Cell & Regenerative Medicine March 07-09, 2019 Nice, France12th World Congress on Cell & Tissue Science March 11-12, 2019 Singapore City, Singapore14th International Conference on Metabolomics and Enzymology March 18-19, 2019 New York, USA2nd World Congress on Cell and Structural Biology March 20-21, 2019 Sydney, Australia9th International Conference and Exhibition on Advanced Cell and Gene Therapy March 21-22, 2019 Rome, Italy11th World Congress and Expo on Cell & Stem Cell Research March 25-26, 2019 Orlando, USA6th World Congress on Human Genetics and Genetic Diseases April 08-10, 2019 Abu Dhabi, UAE9th World Congress on Plant Genomics and Plant Sciences April 11-12, 2019 Wellington, Newzealand7th International Conference on Integrative Biology April 15-16, 2019 Berlin, Germany12th International Conference on Genomics and Molecular Biology April 15-17, 2019 Berlin, GermanyInternational Conference on Cord Blood Banking and Stem cell April 22-23, 2019 Vancouver, Canada12th World Conference on Human Genomics and Genomic Medicine April 22-23, 2019 Abu Dhabi, UAE14th International Conference on Tissue Science , Engineering & Regenerative Medicine April 24-25, 2019 Vancouver, Canada14th International Conference on Tissue Engineering & Regenerative Medicine April 29-30, 2019 Amsterdam, Netherlands 7th Asia Pacific Plant Biology and Plant Science Congress May 01-02, 2019 Seoul, South Korea25th Asia Pacific Biotechnology Congress May 01-02, 2019 Kyoto, Japan6th Annual Congress on Biology and Medicine of Molecules June 10-12, 2019 Helsinki, Finland10 th Tissue Repair and Regeneration Congress June 10-12, 2019 Helsinki, Finland2nd Annual Biotechnology Congress July 31-Aug 01, 2019 Chicago, USAGenetics Stemcell 2019 Tokyo, JapanMolecular Medicine 2019 Dubai, UAEInternational Cystic Fibrosis Conference: A cure for all September 20-21, 2018 Dubai, UAE

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Peer Reviewed Genetics and Molecular Biology Journals ...

Molecular geneticists with a BS degree often work as laboratory technicians. They are in demand to work on research projects in universities. Federal and state government agencies such as the National Institutes of Health, the Department of Energy, the Department of Agriculture and the Environmental Protection Agency hire molecular geneticists to work on a variety of applied research problems. In the private sector, agricultural and pharmaceutical companies are increasingly hiring molecular geneticists to apply their skillsto genetic engineering as well as classical breeding programs. The newand growing biotechnology industry is largely based on the expertise of molecular geneticists.

Many molecular genetics majors go to medical or other professional schools. The major program is rigorous, and molecular genetics is an important area in modern medicine. Also, well-qualified majors are encouraged to participate in the facultys research programs. As a result, molecular genetics majors have been successful in gaining entrance to professional schools.

Many molecular genetics graduates go on to graduate school. A few of these get an MS degree, which qualifies them for higher-paying laboratory technician jobs. Most go directly to the PhD program. Molecular geneticists with a PhD are widely employed by government and industry to design and supervise research and development projects. Nearly all colleges and universities have molecular geneticists on their faculties, teaching and doing research. Molecular geneticists with a PhD plus postdoctoral research training are eligible for faculty positions at research-oriented universities like Ohio State.

An undergraduate major in molecular genetics does not limit ones options to careers in medicine or biological research. Because this major provides the academic preparation and strong science background appropriate for students who plan careers in marketing, business or management in high technology industries, some molecular genetics students choose to use their science background to pursue a professional degree in business or law. A few students choose to put their molecular genetics training to use by obtaining a masters degree in education and becoming science teachers.

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Molecular Genetics - The Ohio State University

Genetics & Molecular Biology Journal is an international scholarly, peer reviewed journal presenting original research contributions and scientific advances related to the field of genes, genetic variation and macromolecules. Molecular biology is the study of development, structure and function of macromolecules vital for life. It deals with the molecular basis of biological activity and overlays genetics and biochemistry.

The journal Scope Encompasses structure & functional studies of bio molecular, Cell Biology, Microbial genetics, Biological Molecules, molecular immunology, genetics, genetic disorders, cellular biology and molecular research. It also includes biochemical and molecular influence on genetic material. Genetics & Molecular Biology broadly covers the domains of life, plants, animals, microorganism and human.

The journal accepts manuscripts in the form of original research article, review article, short communication, case report, letter-to-the-Editor and Editorials for publication in an open access platform.

The Journal is using Editor Manager System for easy online tracking and managing of the manuscript processing.

Submit manuscript atwww.editorialmanager.com/imedpub/or send as an e-mail attachment to the Editorial Office at[emailprotected]

Cell biologyis a branch of biology that studies cells their physiological properties, their structure, the organelles they contain, interactions with their environment, their life cycle, division, death and cell function. Research in cell biology is closely related to genetics, biochemistry, molecular biology, immunology, and developmental biology.

Related Journals of Cell BiologyCell Science & Therapy, Cell & Developmental Biology, Cellular and Molecular Biology, Cell Biology: Research & Therapy, Molecular Biology, Genes to Cells, Journal of Molecular Cell Biology, Biology of the Cell, Developmental Cell, Developmental Cell, Eukaryotic Cell, European Cells and Materials

Gene technology is defined as the term which include a range of activities concerned with understanding of gene expression, advantages of natural genetic variation, modifying genes and transferring genes to new hosts. Genes are found in all living organisms and are transferred from one generation to the next.Gene technology encompasses several techniques including marker-assisted breeding, RNAi and genetic modification. Only some gene technologies produce genetically modified organisms. We use the most appropriate technique, or combination of techniques, to achieve the desired goal.

Related Journal of Gene Technology

Gene Technology, Journal of Genetic Syndromes & Gene Therapy, Human Genetics & Embryology, Journal of Next Generation Sequencing & Applications, Biochemica et Biophysica Acta - Gene Structure and Expression, Gene Therapy Press, Conservation Genetics, Clinical Epigenetics, Genes, Current Genetics, Gene Expression.

Bioinformatics is the application of computer technology to the management of biological information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied to gene-based drug discovery and development. Bioinformatics tools aid in the comparison of genetic and genomic data and more generally in the understanding of evolutionary aspects of molecular biology. At a more integrative level, it helps analyze and catalogue the biological pathways and networks that are an important part of systems biology. In structural biology, it aids in the simulation and modeling of DNA, RNA, and protein structures as well as molecular interactions.

Related Journalsof Bioinformatics

Proteomics & Bioinformatics, Bioinformatics, Proteins: Structure, Function and Genetics, BMC Bioinformatics, Briefings in Bioinformatics, IEEE/ACM Transactions on Computational Biology and Bioinformatics

Comparative genomics It is an exciting new field of biological research in which the genome sequences of different species - human, mouse and a wide variety of other organisms from yeast to chimpanzees are compared.

Related Journals of Comparative genomics

Journal of Proteomics & Bioinformatics, Journal of Genetic Syndromes & Gene Therapy, International Journal of Biomedical Data Mining, Journal of Pharmacogenomics & Pharmacoproteomics, Functional & Integrative Genomics, Microbiome, Evolutionary and Genomic Microbiology, Genomics and Comparative Genomics, Journal of Virology, Comparative Biochemistry and Physiology Part D: Genomics and Proteomics, BMC Genomics, Comparative and Functional Genomics, Current Bioinformatics

Genetic mutation is a permanent change in the DNA.Mutations may or may not produce changes in the organism.Hereditary mutations and Somatic mutations are the two types of Gene mutations.Former type is inherited from the parents and are present in every cell of the human body whereas latter type may occur at some point of life time due to environmental factors..

Related Journals of Genetic MutationsGenetic Medicine, Genetic Engineering, Mutation Research/Genetic Toxicology and Environmental Mutagenesis, European Journal of Human Genetics, Genetics in Medicine, Human Mutation, Human Molecular Genetics, Genetic mutations Journals, Journal of Genetic Counseling, Genetic Journals, Genetic Disorder Articles, Journal of Genetic Mutation Disorders.

Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product. These products are usually proteins which functions as enzymes, hormones and receptors. Genes which do not code for proteins such as ribosomal RNA or transfer RNA code for functional RNA products. Gene expression is the process by which the genetic code the nucleotide sequence of a gene is used to direct protein synthesis and produce the structures of the cell. Genes that code for amino acid sequences are called as structural genes.

Related Journals of Gene Expression

Gene Technology, Journal of Next Generation Sequencing & Applications, Journal of Data Mining in Genomics & Proteomics,Journal of Proteomics & Bioinformatics, Transcriptomics: Open Access, Critical Reviews in Eukaryotic Gene Expression, Gene Expression, Gene Expression Patterns, Brain research, Gene expression patterns, Critical Reviews in Eukaryotic Gene Expression.

Molecular cloning is a set of techniques used to insert recombinant DNA from a prokaryotic or eukaryotic source into a replicating vehicle such as plasmids or viral vectors. Cloning refers to making numerous copies of a DNA fragment of interest, such as a gene.

Related Journals of Molecular cloning

Gene Technology, Cloning & Transgenesis, Journal of Next Generation Sequencing & Applications, Journal of Data Mining in Genomics & Proteomics, Transcriptomics: Open Access, Stem Cells and Cloning Advances and Applications, Clinical Genetics, Clinical Genetics, Forensic Science International: Genetics, Advances in Genetics.

Molecular genetics is a branch of genetics and molecular biology that deals with the structure and function of genes at a cellular and molecular level. One of the main achievements of molecular genetics is that now one can have the clarity about the chemical nature of the gene. Molecular genetics is concerned with the arrangement of genes on DNA molecule, the replication of DNA, the transcription of DNA into RNA, and the translation of RNA into proteins. Gene amplification, separation and detection, and expression are some of the general techniques used for molecular genetics.

Related Journals of Molecular Genetics

Journal of Molecular and Genetic Medicine, Tissue Science & Engineering, Cell Biology: Research & Therapy, Advances in Genetic Engineering & Biotechnology, Cloning & Transgenesis, Journal of Molecular Biology: Open Access , Molecular Cell, Genetics and Molecular Biology, BMC Molecular Biology, Advances in Molecular and Cell Biology, Molecular Biology of the Cell

It is the branch that explores the relationship between the immune system and genetics. The term immunogenetics is based on two words immunology and genetics. Immunology deals with the biological and biochemical basis for the body's defense against germs such as bacteria, virus and mycosis.

Related Journals of Immunogenetics

Immunogenetics: Open Access, Journal of Antivirals & Antiretrovirals, Journal of Clinical & Cellular Immunology, Journal of Data Mining in Genomics & Proteomics, Immunogenetics, International Journal of Immunogenetics, Immunology and Immunogenetics Insights, International Journal of Immunogenetics.

Evolutionary Genetics is the study of how genetic variations leads to evolutionary changes. It includes evolution of genome structure, genetic change in response to selection within populations, and the genetic basis of speciation and adaptation

Related Journals of Evolutionary Genetics

Genetic Syndromes & Gene Therapy, Phylogenetics & Evolutionary Biology, Genetic Disorders & Genetic Reports, Cell & Developmental Biology, Journal of Social, Evolutionary, and Cultural Psychology, Journal of Evolutionary Economics, Evolutionary Computation, Genetic Programming and Evolvable Machines, Genetic Counseling, Genetic Epidemiology.

The methods used to identify the locus of a gene and the distances betweengenes.

Related Journal of Gene Technology

Gene Technology, Journal of Genetic Syndromes & Gene Therapy, Human Genetics & Embryology, Journal of Next Generation Sequencing & Applications, Biochemica et Biophysica Acta - Gene Structure and Expression, Gene Therapy Press, Conservation Genetics, Clinical Epigenetics, Genes, Current Genetics, Gene Expression.

Cloning is defined as the processes used to create copies of DNA fragments, cells or organisms. Cloning is commonly used to amplify DNA fragments containing whole genes, but it can also be used to amplify any DNA sequence such as promoters, non-coding sequences and randomly fragmented DNA. It is widely used technique of biological experiments and practical applications including genetic fingerprinting to large scale protein production.

Related Journals of Cloning

Gene Technology, Cloning & Transgenesis, Journal of Next Generation Sequencing & Applications, Journal of Data Mining in Genomics & Proteomics, Transcriptomics: Open Access, Stem Cells and Cloning Advances and Applications, Clinical Genetics, Clinical Genetics, Forensic Science International: Genetics, Advances in Genetics.

Gene Sequencing is the process of determining the precise order of nucleotides within a DNA molecule. It includes any method or technology that is used to determine the order of the four basesadenine, guanine, cytosine, and thyminein a strand of DNA.

Related Journal of Gene Technology

Gene Technology, Journal of Genetic Syndromes & Gene Therapy, Human Genetics & Embryology, Journal of Next Generation Sequencing & Applications, Biochemica et Biophysica Acta - Gene Structure and Expression, Gene Therapy Press, Conservation Genetics, Clinical Epigenetics, Genes, Current Genetics, Gene Expression.

Genetic Engineering is a technique of controlled manipulation of genes to change the genetic makeup of cells and move genes across species boundaries to produce novel organisms.

Related journals of Ethics in genetic engineering

Current Synthetic and Systems Biology, Gene Technology, Genetic Disorders & Genetic Reports Hybrid, Advances in Genetics, BMC Medical Genetics, BMC Genetics, Conservation Genetics, Epigenetics, Infection, Genetics and Evolution, Journal of Assisted Reproduction and Genetics, Neurogenetics, Psychiatric Genetics.

Molecular Medicine strives to promote the understanding of normal body functioning and disease pathogenesis at the molecular level, and to allow researchers and physician-scientists to use that knowledge in the design of specific tools for disease diagnosis, treatment, prognosis, and prevention.

Related Journals for Molecular Medicine

Biomedicine Journals, Journal of Biomedical Science, Journal of Biomedical Research, Translational Biomedicine Journal, Aperito International Journal of Biomedicine, Asian Biomedicine Systems Biomedicine, Biomedical Journal, Biomedicine International Journal, Biomedicine Journal

Molecular biology is the study of biology at the molecular level. The field overlaps with other areas of biology and chemistry, particularly genetics and biochemistry. Cell biology studies the properties of cells including their physiological properties, their structure, the organelles they contain, interactions with their environment, their life cycle, division and death. Molecular and cellular biology are interrelated, since most of the properties and functions of a cell can be described at the molecular level. Molecular and cellular biology encompass many biological fields including: biotechnology, developmental biology, physiology, genetics and microbiology.

Related Journals of Molecular Cell Biology

Cell and Developmental Biology, Journal of Cell Biology, Nature Reviews Molecular Cell Biology, Nature Cell Biology, Current Opinion in Cell Biology, Trends in Cell Biology.

The process by which amino acids are linearly arranged into proteins through the involvement of ribosomal RNA, transfer RNA, messenger RNA, and various enzymes.

Related Journals of Protein Interaction

Cell & Developmental Biology, Advancements in Genetic Engineering, Protein Interaction Viewer, Molecular cloning & genetic recombination, Current Synthetic and Systems Biology, Genome Biology, Protein Journal.

Chromosomes andGene expression is the process by which information from a gene is used in the synthesis of a functional gene product. These products are usually proteins which functions as enzymes, hormones and receptors. Genes which do not code for proteins such as ribosomal RNA or transfer RNA code for functional RNA products. Gene expression is the process by which the genetic code the nucleotide sequence of a gene is used to direct protein synthesis and produce the structures of the cell. Genes that code for amino acid sequences are called as structural genes.

Related Journals of Chromosomes and Gene expression

Gene Technology, Journal of Next Generation Sequencing & Applications, Journal of Data Mining in Genomics & Proteomics,Journal of Proteomics & Bioinformatics, Transcriptomics: Open Access, Critical Reviews in Eukaryotic Gene Expression, Gene Expression, Gene Expression Patterns, Brain research, Gene expression patterns, Critical Reviews in Eukaryotic Gene Expression.

Autoimmune disorders are caused when immune system of the body reacts, against our own body, thus leading to many autoimmune disorders. There are several autoummune disorders they are celiac diseases, diabetes mellitus, graves diseases.

Related Journals of Autoimmune Disorders

Journal of Autoimmune Diseases, Immunome Research, Journal of Clinical & Cellular Immunology, Journal of Autoimmune Diseases and Rheumatology, Open Journal of Rheumatology and autoimmune Diseases

DNA is a molecule that contains the instructions an organism needs to develop, live and reproduce. These instructions are found inside every cell, and are passed down from parents to their children. DNA is made up of molecules called nucleotides. Each nucleotide contains a phosphate group, a sugar group and a nitrogen base.

Related journals of Recombinant DNA

Down Syndrome & Chromosome Abnormalities, Fungal Genomics & Biology, Gene Technology, Genetic Disorders & Genetic Reports Hybrid, Genetic Syndromes & Gene Therapy, Advances in DNA Sequence-Specific Agents, Artificial DNA: PNA and XNA, DNA Reporter.

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth. it occurs as a result of altered gene or by set of genes. Abnormalities can also be small as single base mutation. They can also involve addition or subtraction of entire chromosome. There are four groups of genetic disorders like single gene disorders, chromosome abnormalities, mitochondrial disorders and multifactorial disorders.

Related Journals of Genetic Disorder Human Genetics and Embryology, Cloning and Transgenesis, Carcinogenesis and mutagenesis, Hereditary Genetics: Current Research, Journal of Genetic Mutation Disorders - Annex Publisher, Journal of Genetic Disorders and Genetic Report, Genes and Diseases - Journal - Elsevie, Genetic Disorders - Frontier, Source Journal of Genetic Disorders (SJGD) - Source Journals

One of a group of molecules similar in structure to a single strand of DNA. The function of RNA is to carry the information from DNA in the cell's nucleus into the body of the cell, to use the genetic code to assemble proteins, and to comprise part of the ribosomes that serve as the platform on which protein synthesis takes place.

Related journals of Recombinant DNA

Down Syndrome & Chromosome Abnormalities, Fungal Genomics & Biology, Gene Technology, Genetic Disorders & Genetic Reports Hybrid, Genetic Syndromes & Gene Therapy, Advances in DNA Sequence-Specific Agents, Artificial DNA: PNA and XNA, DNA Reporter.

The passing on of traits from one generation to another generation. Human genetics is the study of inheritance in human beings. Human characteristics are inherited from parents to offspring in discrete unites called genes. Genes consist of specific information coded in the chromosome that consists of segments of chromosomes. Human genetics includes a variety of overlapping fields like classical, molecular, biochemical, population, developmental, clinical and cytogenetics.

Related Journals of Human Genetics

Human Genetics and Embryology, Journal of Cytology & Histology, Hereditary Genetics: Current Research, General Medicine: Open Access, Journal of Molecular and Genetic Medicine, Immunogenetics: Open Access, American, Journal of Human Genetics, Annals of Human Genetics, Annual Review of Genomics and Human Genetics, Current Protocols in Human Genetics, European Journal of Human Genetics, Human Genetics, Twin Research and Human Genetics, International Journal of Human Genetics, Journal of Human Genetics

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Genetics and Molecular Biology Research - iMedPub

Welcome

The Leeds Genetics Laboratory incorporates Molecular Genetics, Cytogenetics and a Molecular Oncology Diagnostic Facility. The laboratory is supported by the Translational Genomics Unit. The service is based at St Jamess Hospital and is part of the Leeds Teaching Hospitals NHS Trust.

The laboratory provides genetic analysis for inherited and acquired diseases for the population of Yorkshire. Services are also available nationally, as part of the UK Genetic Testing Network (UKGTN), and on an international basis.The Laboratory is accredited by UKAS for its established services.

This website is aimed primarily at health workers as an information resource.

Cytogenetics, Molecular Oncology and Whipples Referral Forms

Molecular Genetics Referral Forms

Letter to users re: changes to Whipple disease service

Letter to users re: change to testing strategy for recurrent miscarriage patients

Change to format of oncology reports:

Please note that from 01/01/18 solid tumour and molecular oncology results will be reported and integrated into cellular pathology reports. Separate reports from the Leeds Genetics Lab will no longer be issued.

Cytogenetic Enquiries:0113 2065419 leedsth-tr.Cytogenetics@nhs.net

Molecular Enquiries:0113 2065205 leedsth-tr.dna@nhs.net

Mon - Fri 8:30am - 5:00pm

For more information about schedules of our services covered under UKAS accreditation, please see

E Schedule 8105 (Cytogenetics); and E Schedule 8096 (Molecular Genetics)

For more information about the scope of our work please visit the British Society for Genetic Medicine website.

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Leeds Genetics Laboratory - Leeds Teaching Hospitals NHS Trust

Journal of Genetics and Molecular Biology is an international, Open Access, peer-reviewed journal that publishes high quality articles on the latest advancements and current research in the field of genetics and molecular biology. Journal of Genetics and Molecular Biology provides an Open access platform for young scholars, researchers, and students engaged in the active research in genetics and molecular biology fields.

Journal of Genetics and Molecular Biology will provide up to date information on recent advancements in genetics, molecular biology and its current & potential applications in genetic and molecular medicine (like information on diagnostic testing for the early detection of the diseases or recurrence, risk stratification, prognosis, prediction of treatment response, monitoring, and drug dosing), biotechnology, and other allied fields.

Aims and ScopeJournal of Genetics and Molecular Biology seeks to publish recent research outcomes from Genetics and Molecular Biology field. It accepts articles from different disciplines including but not limited to: Molecular genetics, Evoluationary genetics, Developmental genetics,Heredity genetics, Behavioural genetics, Genetic analysis, Gene regulation, Gene expression profiling, Genetic variation, Epigenetics, Gene therapies, Cellular genetics and molecular biology, Population genetics, Quantitative and computational genetics, Microbial genetics, Genetics in medical field, Signal transduction, Genome and systems biology, cancer genetics and molecular biology, Aging, Cell energetics, Drug metabolism, genetic disorders, Computational molecular biology, rDNA, CRISPR, and all other genetic and molecular biology techniques.

Besides these submissions on studies involving works on molecules of life (DNA, RNA, proteins, and other biomolecules) are also accepted.

Journal of Genetics and Molecular Biology accepts Research Articles, Review Articles, Mini-review, Case Reports, Opinion, Letters to the Editor, Editorials, Rapid and Short Communications, and Commentary on all aspects of genetics and molecular biology.

All submitted articles are subjected to thorough peer-review prior to their publication to maintain quality and significance of the journal. The published articles are made freely and permanently accessible online immediately upon publication, thus improving the citations for the authors in attaining impressive impact factor.

Journal of Genetics and Molecular Biology welcomes submissions via online submission system http://www.editorialmanager.com/alliedjournals or via email to the Editorial Office at[emailprotected] or [emailprotected]

Individuals interested in becoming Editorial Board members or Reviewers should contact the editorial office at:[emailprotected]

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Genetics and Molecular Biology | Peer Reviewed Journal

The chromosome set of a species remains relatively stable over long periods of time. However, within populations there can be found abnormalities involving the structure or number of chromosomes. These alterations arise spontaneously from errors in the normal processes of the cell. Their consequences are usually deleterious, giving rise to individuals who are unhealthy or sterile, though in rare cases alterations provide new adaptive opportunities that allow evolutionary change to occur. In fact, the discovery of visible chromosomal differences between species has given rise to the belief that radical restructuring of chromosome architecture has been an important force in evolution.

Two important principles dictate the properties of a large proportion of structural chromosomal changes. The first principle is that any deviation from the normal ratio of genetic material in the genome results in genetic imbalance and abnormal function. In the normal nuclei of both diploid and haploid cells, the ratio of the individual chromosomes to one another is 1:1. Any deviation from this ratio by addition or subtraction of either whole chromosomes or parts of chromosomes results in genomic imbalance. The second principle is that homologous chromosomes go to great lengths to pair at meiosis. The tightly paired homologous regions are joined by a ladderlike longitudinal structure called the synaptonemal complex. Homologous regions seem to be able to find each other and form a synaptonemal complex whether or not they are part of normal chromosomes. Therefore, when structural changes occur, not only are the resulting pairing formations highly characteristic of that type of structural change but they also dictate the packaging of normal and abnormal chromosomes into the gametes and subsequently into the progeny.

The simplest, but perhaps most damaging, structural change is a deletionthe complete loss of a part of one chromosome. In a haploid cell this is lethal, because part of the essential genome is lost. However, even in diploid cells deletions are generally lethal or have other serious consequences. In a diploid a heterozygous deletion results in a cell that has one normal chromosome set and another set that contains a truncated chromosome. Such cells show genomic imbalance, which increases in severity with the size of the deletion. Another potential source of damage is that any recessive, deleterious, or lethal alleles that are in the normal counterpart of the deleted region will be expressed in the phenotype. In humans, cri-du-chat syndrome is caused by a heterozygous deletion at the tip of the short arm of chromosome 5. Infants are born with this condition as the result of a deletion arising in parental germinal tissues or even in sex cells. The manifestations of this deletion, in addition to the cat cry that gives the syndrome its name, include severe intellectual disability and an abnormally small head.

A heterozygous duplication (an extra copy of some chromosome region) also results in a genomic imbalance with deleterious consequences. Small duplications within a gene can arise spontaneously. Larger duplications can be caused by crossovers following asymmetrical chromosome pairing or by meiotic irregularities resulting from other types of altered chromosome structures. If a duplication becomes homozygous, it can provide the organism with an opportunity to acquire new genetic functions through mutations within the duplicate copy.

An inversion occurs when a chromosome breaks in two places and the region between the break rotates 180 before rejoining with the two end fragments. If the inverted segment contains the centromere (i.e., the point where the two chromatids are joined), the inversion is said to be pericentric; if not, it is called paracentric. Inversions do not result in a gain or loss of genetic material, and they have deleterious effects only if one of the chromosomal breaks occurs within an essential gene or if the function of a gene is altered by its relocation to a new chromosomal neighbourhood (called the position effect). However, individuals who are heterozygous for inversions produce aberrant meiotic products along with normal products. The only way uninverted and inverted segments can pair is by forming an inversion loop. If no crossovers occur in the loop, half of the gametes will be normal and the other half will contain an inverted chromosome. If a crossover does occur within the loop of a paracentric inversion, a chromosome bridge and an acentric chromosome (i.e., a chromosome without a centromere) will be formed, and this will give rise to abnormal meiotic products carrying deletions, which are inviable. In a pericentric inversion, a crossover within the loop does not result in a bridge or an acentric chromosome, but inviable products are produced carrying a duplication and a deletion.

If a chromosome break occurs in each of two nonhomologous chromosomes and the two breaks rejoin in a new arrangement, the new segment is called a translocation. A cell bearing a heterozygous translocation has a full set of genes and will be viable unless one of the breaks causes damage within a gene or if there is a position effect on gene function. However, once again the pairing properties of the chromosomes at meiosis result in aberrant meiotic products. Specifically, half of the products are deleted for one of the chromosome regions that changed positions and half of the products are duplicated for the other. These duplications and deletions usually result in inviability, so translocation heterozygotes are generally semisterile (half-sterile).

Two types of changes in chromosome numbers can be distinguished: a change in the number of whole chromosome sets (polyploidy) and a change in chromosomes within a set (aneuploidy).

An individual with additional chromosome sets is called a polyploid. Individuals with three sets of chromosomes (triploids, 3n) or four sets of chromosomes (tetraploids, 4n) are polyploid derivatives of the basic diploid (2n) constitution. Polyploids with odd numbers of sets (e.g., triploids) are sterile, because homologous chromosomes pair only two by two, and the extra chromosome moves randomly to a cell pole, resulting in highly unbalanced, nonfunctional meiotic products. It is for this reason that triploid watermelons are seedless. However, polyploids with even numbers of chromosome sets can be fertile if orderly two-by-two chromosome pairing occurs.

Though two organisms from closely related species frequently hybridize, the chromosomes of the fusing partners are different enough that the two sets do not pair at meiosis, resulting in sterile offspring. However, if by chance the number of chromosome sets in the hybrid accidentally duplicates, a pairing partner for each chromosome will be produced, and the hybrid will be fertile. These chromosomally doubled hybrids are called allotetraploids. Bread wheat, which is hexaploid (6n) due to several natural spontaneous hybridizations, is an example of an allotetraploid. Some polyploid plants are able to produce seeds through an asexual type of reproduction called apomixis; in such cases, all progeny are identical to the parent. Polyploidy does arise spontaneously in humans, but all polyploids either abort in utero or die shortly after birth.

Some cells have an abnormal number of chromosomes that is not a whole multiple of the haploid number. This condition is called aneuploidy. Most aneuploids arise by nondisjunction, a failure of homologous chromosomes to separate at meiosis. When a gamete of this type is fertilized by a normal gamete, the zygotes formed will have an unequal distribution of chromosomes. Such genomic imbalance results in severe abnormalities or death. Only aneuploids involving small chromosomes tend to survive and even then only with an aberrant phenotype.

The most common form of aneuploidy in humans results in Down syndrome, a suite of specific disorders in individuals possessing an extra chromosome 21 (trisomy 21). The symptoms of Down syndrome include intellectual disability, severe disorders of internal organs such as the heart and kidneys, up-slanted eyes, an enlarged tongue, and abnormal dermal ridge patterns on the fingers, palms, and soles. Other forms of aneuploidy in humans result from abnormal numbers of sex chromosomes. Turner syndrome is a condition in which females have only one X chromosome. Symptoms may include short stature, webbed neck, kidney or heart malformations, underdeveloped sex characteristics, or sterility. Klinefelter syndrome is a condition in which males have one extra female sex chromosome, resulting in an XXY pattern. (Other, less frequent, chromosomal patterns include XXXY, XXXXY, XXYY, and XXXYY.) Symptoms of Klinefelter syndrome may include sterility, a tall physique, lack of secondary sex characteristics, breast development, and learning disabilities.

The data accumulated by scientists of the early 20th century provided compelling evidence that chromosomes are the carriers of genes. But the nature of the genes themselves remained a mystery, as did the mechanism by which they exert their influence. Molecular geneticsthe study of the structure and function of genes at the molecular levelprovided answers to these fundamental questions.

In 1869 Swiss chemist Johann Friedrich Miescher extracted a substance containing nitrogen and phosphorus from cell nuclei. The substance was originally called nuclein, but it is now known as deoxyribonucleic acid, or DNA. DNA is the chemical component of the chromosomes that is chiefly responsible for their staining properties in microscopic preparations. Since the chromosomes of eukaryotes contain a variety of proteins in addition to DNA, the question naturally arose whether the nucleic acids or the proteins, or both together, were the carriers of the genetic information. Until the early 1950s most biologists were inclined to believe that the proteins were the chief carriers of heredity. Nucleic acids contain only four different unitary building blocks, but proteins are made up of 20 different amino acids. Proteins therefore appeared to have a greater diversity of structure, and the diversity of the genes seemed at first likely to rest on the diversity of the proteins.

Evidence that DNA acts as the carrier of the genetic information was first firmly demonstrated by exquisitely simple microbiological studies. In 1928 English bacteriologist Frederick Griffith was studying two strains of the bacterium Streptococcus pneumoniae; one strain was lethal to mice (virulent) and the other was harmless (avirulent). Griffith found that mice inoculated with either the heat-killed virulent bacteria or the living avirulent bacteria remained free of infection, but mice inoculated with a mixture of both became infected and died. It seemed as if some chemical transforming principle had transferred from the dead virulent cells into the avirulent cells and changed them. In 1944 American bacteriologist Oswald T. Avery and his coworkers found that the transforming factor was DNA. Avery and his research team obtained mixtures from heat-killed virulent bacteria and inactivated either the proteins, polysaccharides (sugar subunits), lipids, DNA, or RNA (ribonucleic acid, a close chemical relative of DNA) and added each type of preparation individually to avirulent cells. The only molecular class whose inactivation prevented transformation to virulence was DNA. Therefore, it seemed that DNA, because it could transform, must be the hereditary material.

A similar conclusion was reached from the study of bacteriophages, viruses that attack and kill bacterial cells. From a host cell infected by one bacteriophage, hundreds of bacteriophage progeny are produced. In 1952 American biologists Alfred D. Hershey and Martha Chase prepared two populations of bacteriophage particles. In one population, the outer protein coat of the bacteriophage was labeled with a radioactive isotope; in the other, the DNA was labeled. After allowing both populations to attack bacteria, Hershey and Chase found that only when DNA was labeled did the progeny bacteriophage contain radioactivity. Therefore, they concluded that DNA is injected into the bacterial cell, where it directs the synthesis of numerous complete bacteriophages at the expense of the host. In other words, in bacteriophages DNA is the hereditary material responsible for the fundamental characteristics of the virus.

Today the genetic makeup of most organisms can be transformed using externally applied DNA, in a manner similar to that used by Avery for bacteria. Transforming DNA is able to pass through cellular and nuclear membranes and then integrate into the chromosomal DNA of the recipient cell. Furthermore, using modern DNA technology, it is possible to isolate the section of chromosomal DNA that constitutes an individual gene, manipulate its structure, and reintroduce it into a cell to cause changes that show beyond doubt that the DNA is responsible for a large part of the overall characteristics of an organism. For reasons such as these, it is now accepted that, in all living organisms, with the exception of some viruses, genes are composed of DNA.

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Heredity - Chromosomal aberrations | Britannica.com

The Department of Molecular Genetics applies powerful tools of molecular biology to problems of clinical medicine with heavy emphasis on genetic and metabolic disorders. Identification and characterization of malfunctioning genes in disease can lead not only to better treatment of the disease but also to understanding how the genes operate in the normal state.

The Department of Molecular Genetics faculty holds some of sciences highest awards and recognitions:

From a historical perspective, the research ofMichael Brown, M.D., andJoseph Goldstein, M.D., resulted in the 1985 Nobel Prize in Physiology or Medicine for their discoveries concerning the regulation of cholesterol metabolism. Their partnership has lasted more than 40 years and continues today in the Brown/Goldstein Lab, a signature part of the Department of Molecular Genetics, of which Dr. Goldstein is now Chair.

Together, Goldstein and Brown lead a research team that typically includes 10 to 12 postdoctoral fellows and three to five graduate trainees. They have trained more than 150 graduate students and postdoctoral fellows. Five of their former fellows (Thomas C. Sdhof, Wang Xiaodong, Helen H. Hobbs, David W. Russell, and Monty Krieger) have been elected to the U.S. National Academy of Sciences.

The core of our Departmental research centers on lipid research, which touches on many vital bodily functions and diseases such as hypercholesterolemia, atherosclerosis, and Alzheimers disease. The fruits of our research include the development of life-saving statin drugs. Topics of investigation include regulation of lipid synthesis and membrane composition; production of steroid hormones and bile acids; development anddegeneration of the brain; and genes that control appetite and sleep.

The Department is united by weekly research conferences, sharing of equipment and ideas, and our devotion to fighting devastating diseases with the tools of basic science.

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Department of Molecular Genetics: UT Southwestern, Dallas, TX