What is a Genetic Counselor and How Can They Help You Navigate Your Healthcare Journey? ABC4.com
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What is a Genetic Counselor and How Can They Help You Navigate Your Healthcare Journey? - ABC4.com
A spoon of saffron derived from the flower of Crocus sativus. Photo: Salonik Saffron/Wikimedia Commons, CC BY-SA 4.0
Saffron, the worlds most expensive spice, is extracted from the flowers of the saffron crocus, Crocus sativus. It has been grown for thousands of years in the Mediterranean region. But when and where was saffron first domesticated by our ancestors? In a review in Frontiers in Plant Science, researchers conclude that lines of evidence from ancient art and genetics converge on the same region.
Both ancient artworks and genetics point to Bronze Age Greece, in approximately 1700 BC or earlier, as the origin of saffrons domestication, said Ludwig Mann, one of the leading authors and a PhD student at Technische Universitt Dresden, Germany.
The genus Crocus, with approximately 250 species, ranges from South and Central Europe and North Africa to Western China. Unlike domesticated saffron, these species reproduce sexually in the wild. The first known use by humans of wild crocuses was as pigment for cave paintings, approximately 50,000 years ago in todays Iraq. Ancient texts from Sumer, Assyria and Babylonia also describe the use of wild crocuses in medicine and dye.
Asexually propagated by humans
In contrast, domesticated saffron doesnt grow in the wild, and can only be propagated asexually with human help, by dividing its underground corms stem-like storage organs. The process was first described by the Greek philosopher Theophrastus in the fourth to third century BC.
Today, domesticated saffron is grown around the globe, for use in cooking and perfumes and as a yellow dye. Between 15,000 and 16,000 flowers, requiring between 370 and 470 person-hours to collect, yield a single kilo, worth between $1,300 and $10,000.
Finding out where and when saffron was first domesticated isnt straightforward: the species is difficult to study genetically, because it has three copies of every chromosome instead of the usual two, and a large genome containing a high percentage of difficult-to-sequence repetitive DNA, said leading author Seyyedeh-Sanam Kazemi-Shahandashti, a PhD student at the Institute of Bio- and Geosciences of the Forschungszentrum Jlich, Germany.
As there are no ancient crocus remains preserved from ancient times, we here revisit ancient artworks that depict saffron-like plants. We expected that these could point us to specific regions.
Two independent lines of evidence
The authors argue that artworks from the Minoan civilization of ancient Greece are likely the oldest to depict domesticated saffron. For example, the dense patches of crocus flowers on the fresco The Saffron Gatherers from the island of Santorini (approximately 1600 BC) suggest cultivation. Another fresco on the same island, The Adorants, shows flowers with long, dark-red stigmas which overtop dark violet petals, typical of domesticated saffron.
Flowers with these traits are also depicted on ceramics and cloth from Bronze Age Greece, and symbolically rendered in the ideogram for saffron in the ancient Linear B script. In Egypt, tombs from the 15th and 14th centuries BC depict how ambassadors from Crete brought tribute in the form of textiles dyed with saffron.
An origin in Bronze Age Greece agrees with results from genetic studies from 2019, which showed that C. cartwrightianus, which only occurs in mainland Greece and Crete, is saffrons closest wild relative.
The authors believe that the modern saffron crocus with its three genomes arose naturally from the wild, either exclusively from C. cartwrightianus or from hybrids between C. cartwrightianus and another crocus species. The saffron crocus would then have been retained by the Bronze Age Greeks because of its superior qualities as a spice.
The authors will continue to trace saffrons properties, said final author Tony Heitkam, leader of the plant genomics group at Technische Universitt Dresden: Around the globe today, all saffron crocuses are effectively clones dating back to saffrons emergence in ancient Greece. Nevertheless, despite sharing the same genome, saffron can have different properties depending on the region. We have started to investigate the molecular causes, in particular so-called epigenetic differences, for this regional variation.
This article was first published on the Frontiers news blog.
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Ancient Art and Genetics Reveal Origin of World's Most Expensive Spice - The Wire Science
Obesity is a health condition which involves accumulation of a large amount of fat. Unlike what we think, Obesity is not just a cosmetic condition. It, in fact, involves and increases the risk of a lot of other disorders such as heart disease, diabetes, high blood pressure and even certain types of cancers. Obesity is caused by a range of factors it usually involves eating a lot of calories and not burning enough of them which causes the fat to accumulate. Genetics is also one of the causes of obesity. Speaking to HT Lifestyle, Yash Vardhan Swami, Nutritionist, Health and Fitness Expert said, To gain weight we need to eat more calories than we burn (over time) and to lose weight, we need to eat lesser calories. To control this equation, we can eat more or fewer calories, or we can burn more or fewer calories. We can also do a bit of both.
Yash Vardhan Swami further added that this formula applies to everyone irrespective of the genetic makeup that they are a part of. Can our genes make it harder to lose weight? Certain gene variants can make it easier for us to gain weight by making it easier for us to eat more calories than what we burn over time which would lead to weight gain by increasing drive to eat (hunger and cravings) or reducing drive to move/burn calories (in simple terms, making us lazier).
ALSO READ: Health tips for adolescents: 5 problems due to obesity, ways to lose weight
The nutritionist further referred to the presence of the FTO Gene also known as the obesity gene, FTO gene is Fat Mass and Obesity Associated Gene which raises the risk of obesity. Referring to the part played by the FTO gene, the expert added, If you have one copy of gene (one parent), there would be a difference of 1.5kgs only (on an average). If you have two copies of the gene (both parents), there would be a difference of 3kgs only (on an average). So, if we are up to 3kgs up, we can blame our genetics. If it's more, genetics are not to be blamed. The expert recommended regular exercise which can reduce and slash the effect of the FTO gene and can prevent obesity.
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Obesity and genetics: Expert shares insights - Hindustan Times
SALT LAKE CITY, June 23, 2022 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced a partnership with Epic, the industry leading healthcare software company, to integrate Myriads full line of genetic tests with Epics expansive network of 600,000 physicians and more than 250 million patients.
The integration creates a seamless, end-to-end workflow solution for healthcare providers to order Myriad tests and review results directly within their everyday Epic platform without additional steps or manual ordering processes. Epic enables a secure exchange of information between healthcare institutions that care for patients.
With the ability to review pertinent health information, order tests, and receive results natively in Epic, providers will have the critical genetic insights and related information they need to drive better health outcomes and improve the patient experience. Patients will also be able to easily access their Myriad test results and other health information directly within their EHR portal.
Simplifying the process of genetic testing by making it more accessible and interoperable with electronic health records is a key component of our mission to advance health and well-being for all, said Paul J. Diaz, president and CEO, Myriad Genetics. Our collaboration with Epic reflects our strategy to partner with other healthcare industry leaders so we can advance precision medicine together. Increasing access to genetic insights and integrating our tests into Epics vast network of healthcare systems represents a significant step forward to better serve patients and healthcare providers.
As part of its transformation and growth plan, Myriad is focusing on new customer-centric, tech-enabled tools to make the genetic testing process easier for patients and clinicians. With the recent launch of Myriads Precise Oncology Solutions, providers can now place a single order for multiple Myriad tests and receive timely results through a unified online portal. Now, through the partnership with Epic, Myriad is expanding efforts to help physicians and health systems gain access to genetic testing faster and conveniently within the platform they use every day.
Genetic testing and precision medicine save lives, said Alan Hutchison, vice president of Population Health at Epic. Through this relationship, were bringing genetic insights to the point of care at scale, giving providers and patients the information they need to make more timely, informed decisions.
Myriads integration with Epic is expected to go live later this year.
About Myriad Genetics Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and well-being for all. Myriad develops and commercializes genetic tests that help assess the risk of developing disease or disease progression and guide treatment decisions across medical specialties where genetic insights can significantly improve patient care and lower healthcare costs. Fast Company named Myriad among the Worlds Most Innovative Companies for 2022. For more information, visit http://www.myriad.com.
Myriad, the Myriad logo, BRACAnalysis, BRACAnalysis CDx, Colaris, Colaris AP, MyRisk, Myriad MyRisk, MyRisk Hereditary Cancer, MyChoice CDx, Prequel, Prequel with Amplify, Amplify, Foresight, Precise, FirstGene, Health.Illuminated., RiskScore, Prolaris, GeneSight, and EndoPredict are trademarks or registered trademarks of Myriad Genetics, Inc. 2022 Myriad Genetics, Inc. All rights reserved.
Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the integration of the companys genetic tests with Epics network of physicians and patients and the expected timing of the integration; the companys growth plan to scale customer-centric, tech-enabled commercial capabilities with 600+ EHR integrations this year; the anticipated benefits of the integration, including that the integration will create an end-to-end workflow solution for healthcare providers to order Myriad tests and review results directly with their everyday Epic workflows, provide providers with critical genetic insights and related information they need to drive better health outcomes and improve the patient experience, and allow patients to easily access their Myriad test results directly from their EHR portal; and the companys strategic imperatives under the caption About Myriad Genetics. These forward-looking statements are managements present expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those described in the forward-looking statements. These risks include, but are not limited to: uncertainties associated with COVID-19, including its possible effects on the companys operations and the demand for its products and services and the companys ability to efficiently and flexibly manage its business; the risk that sales and profit margins of the companys existing molecular diagnostic tests may decline or that the company may not be able to operate its business on a profitable basis; risks related to the companys ability to generate sufficient revenue from its existing product portfolio or in launching and commercializing new tests; risks related to changes in governmental or private insurers coverage and reimbursement levels for the companys tests or the companys ability to obtain reimbursement for its new tests at comparable levels to its existing tests; risks related to increased competition and the development of new competing tests and services; the risk that the company may be unable to develop or achieve commercial success for additional molecular diagnostic tests in a timely manner, or at all; the risk that the company may not successfully develop new markets for its molecular diagnostic tests, including the companys ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying the companys molecular diagnostic tests and any future tests are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating and constructing the companys laboratory testing facilities; risks related to public concern over genetic testing in general or the companys tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to the companys ability to obtain new corporate collaborations or licenses and acquire or develop new technologies or businesses on satisfactory terms, if at all; risks related to the companys ability to successfully integrate and derive benefits from any technologies or businesses that it licenses, acquires or develops; risks related to the companys projections about the potential market opportunity for the companys current and future products; the risk that the company or its licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying the companys tests; the risk of patent-infringement claims or challenges to the validity of the companys patents; risks related to changes in intellectual property laws covering the companys molecular diagnostic tests, or patents or enforcement, in the United States and foreign countries; risks related to security breaches, loss of data and other disruptions, including from cyberattacks; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that the company may be unable to comply with financial operating covenants under the companys credit or lending agreements; risks related to the material weakness related to general information technology controls, including the impact thereof and the companys remediation plan, and its ability to achieve and maintain effective disclosure controls and procedures and internal control over financial reporting; risks related to current and future lawsuits, including product or professional liability claims; and other factors discussed under the heading Risk Factors contained in Item 1A of the companys Annual Report on Form 10-K filed with the Securities and Exchange Commission on February 25, 2022, as well as any updates to those risk factors filed from time to time in the companys Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. The reported number of physicians and patients in Epics network were provided by Epic.
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Myriad Genetics Teams Up with Epic to Make Genetic Testing Accessible to More Patients with Electronic Health Record (EHR) Integration - GlobeNewswire
Its a quirk of history that the foundations of modern biology and as a consequence, some of the worst atrocities of the 20th century should rely so heavily on peas. Cast your mind back to school biology, and Gregor Mendel, whose 200th birthday we mark next month. Though Mendel is invariably described as a friar, his formidable legacy is not in Augustinian theology, but in the mainstream science of genetics.
In the middle of the 19th century, Mendel (whose real name was Johann Gregor was his Augustinian appellation) bred more than 28,000 pea plants, crossing tall with short, wrinkly seeds with smooth, and purple flowers with white. What he found in that forest of pea plants was that these traits segregated in the offspring, and did not blend, but re-emerged in predictable ratios. What Mendel had discovered were the rules of inheritance. Characteristics were inherited in discrete units what we now call genes and the way these units flowed through pedigrees followed neat mathematical patterns.
These rules are taught in every secondary school as a core part of how we understand fundamental biology genes, DNA and evolution. We also teach this history, for it is a good story. Mendels work, published in 1866, was being done at the same time as Darwin was carving out his greatest idea. But this genius Moravian friar was ignored until both men were dead, only to be rediscovered at the beginning of the new century, which resolved Darwinian evolution with Mendelian genetics, midwifing the modern era of biology.
But theres a lesser-known story that shaped the course of the 20th century in a different way. The origins of genetics are inextricably wedded to eugenics. Since Plato suggested the pairing of high-quality parents, and Plutarch described Spartan infanticide, the principles of population control have been in place, probably in all cultures. But in the time of Victorian industrialisation, with an ever-expanding working class, and in the wake of Darwinian evolution, Darwins half-cousin, Francis Galton, added a scientific and statistical sheen to the deliberate sculpting of society, and he named it eugenics. It was a political ideology that co-opted the very new and immature science of evolution, and came to be one of the defining and most deadly ideas of the 20th century.
The UK came within a whisker of having involuntary sterilisation of undesirables as legislation, something that Churchill robustly campaigned for in his years in the Asquith government, but which the MP Josiah Wedgwood successfully resisted. In the US though, eugenics policies were enacted from 1907 and over most of the next century in 31 states, an estimated 80,000 people were sterilised by the state in the name of purification.
American eugenics was faithfully married to Mendels laws though Mendel himself had nothing to do with these policies. Led by Charles Davenport a biologist and Galton devotee the Eugenics Record Office in Cold Spring Harbor, New York, set out in 1910 to promote a racist, ableist ideology, and to harvest the pedigrees of Americans. With this data, Davenport figured, they could establish the inheritance of traits both desirable and defective, and thus purify the American people. Thus they could fight the imagined threat of great replacement theory facing white America: undesirable people, with their unruly fecundity, will spread inferior genes, and the ruling classes will be erased.
Pedigrees were a major part of the US eugenics movement, and Davenport had feverishly latched on to Mendelian inheritance to explain all manner of human foibles: alcoholism, criminality, feeblemindedness (and, weirdly, a tendency to seafaring). Heredity, he wrote in 1910, stands as the one great hope of the human race; its saviour from imbecility, poverty, disease, immorality, and like all of the enthusiastic eugenicists, he attributed the inheritance of these complex traits to genes nature over nurture. It is from Davenport that we have the first genetic studies of Huntingtons disease, which strictly obeys a Mendelian inheritance, and of eye colour, which, despite what we still teach in schools, does not.
One particular tale from this era stands out. The psychologist Henry Goddard had been studying a girl with the pseudonym Deborah Kallikak in his New Jersey clinic since she was eight. He described her as a high-grade feeble-minded person, the moron, the delinquent, the kind of girl or woman that fills our reformatories. In order to trace the origin of her troubles, Goddard produced a detailed pedigree of the Kallikaks. He identified as the founder of this bloodline Martin Kallikak, who stopped off en route home from the war of independence to his genteel Quaker wife to impregnate a feeble-minded but attractive barmaid, with whom he had no further contact.
In Goddards influential 1912 book, The Kallikak Family: A Study in the Heredity of Feeble-Mindedness, he traced a perfect pattern of Mendelian inheritance for traits good and bad. The legitimate family was eminently successful, whereas his bastard progeny produced a clan of criminals and disabled defectives, eventually concluding with Deborah. With this, Goddard concluded that the feeble-mindedness of the Kallikaks was encoded in a gene, a single unit of defective inheritance passed down from generation to generation, just like in Mendels peas.
A contemporary geneticist will frown at this, for multiple reasons. The first is the terminology feeble-minded, which was a vague, pseudopsychiatric bucket diagnosis that we presume included a wide range of todays clinical conditions. We might also reject his Mendelian conclusion on the grounds that complex psychiatric disorders rarely have a single genetic root, and are always profoundly influenced by the environment. The presence of a particular gene will not determine the outcome of a trait, though it may well contribute to the probability of it.
This is a modern understanding of the extreme complexity of the human genome, probably the richest dataset in the known universe. But a meticulous contemporary analysis is not even required in the case of the Kallikaks, because the barmaid never existed.
Martin Kallikaks legitimate family was indeed packed with celebrated achievers men of medicine, the law and the clergy. But Goddard had invented the illegitimate branch, by misidentifying an unrelated man called John Wolverton as Kallikaks bastard son, and dreaming up his barmaid mother. There were people with disabilities among Wolvertons descendants, but the photos in Goddards book show some of the children with facial characteristics that are associated with foetal alcohol syndrome, a condition that is entirely determined not by genetic inheritance, but by exposure to high levels of alcohol in utero. Despite the family tree being completely false, this case study remained in psychology textbooks until the 1950s as a model of human inheritance, and a justification for enforced sterilisation. The Kallikaks had become the founding myth of American eugenics.
The German eugenics movement had also begun at the beginning of the 20th century, and grown steadily through the years of the Weimar Republic. By the time of the rise of the Third Reich, principles such as Lebensunwertes Leben life unworthy of life were a core part of the national eugenics ideology for purifying the Nordic stock of German people. One of the first pieces of legislation to be passed after Hitler seized power in 1933 was the Law for the Prevention of Genetically Diseased Offspring, which required sterilisation of people with schizophrenia, deafness, blindness, epilepsy, Huntingtons disease, and other conditions that were deemed clearly genetic. As with the Americans tenacious but fallacious grip on heredity, most of these conditions are not straightforwardly Mendelian, and in one case where it is Huntingtons the disease takes effect after reproductive age. Sterilisation had no effect on its inheritance.
The development of the Nazis eugenics programmes was supported intellectually and financially by the American eugenicists, erroneously obsessed as they were with finding single Mendelian genes for complex traits, and plotting them on pedigrees. In 1935, a short propaganda film called Das Erbe (The Inheritance) was released in Germany. In it, a young scientist observes a couple of stag beetles rutting. Confused, she consults her professor, who sits her down to explain the Darwinian struggles for life and shows her a film of a cat hunting a bird, cocks sparring. Suddenly she gets it, and exclaims, to roars of laughter: Animals pursue their own racial policies!
The muddled propaganda is clear: nature purges the weak, and so must we.
The film then shows a pedigree of a hunting dog, just the type that you might get from the Kennel Club today. And then, up comes an animation of the family tree of the Kallikaks, on one side Erbgesunde Frau and on the other, Erbkranke Frau genetically healthy and hereditarily defective women. On the diseased side, the positions of all of the miscreants and deviants pulse to show the flow of undesirable people through the generations, as the voiceover explains. Das Erbe was a film to promote public acceptance of the Nazi eugenics laws, and what follows the entirely fictional Kallikak family tree is its asserted legacy: shock images of seriously disabled people in sanatoriums, followed by healthy marching Nazis, and a message from Hitler: He who is physically and mentally not healthy and worthy, may not perpetuate his suffering in the body of his child. Approximately 400,000 people were sterilised under this policy. A scientific lie had become a pillar of genocide in just 20 years.
Science has and will always be politicised. People turn to the authority of science to justify their ideologies. Today, we see the same pattern, but with new genetics. After the supermarket shootings in Buffalo in May, there was heated discussion in genetics communities, as the murderer had cited specific academic work in his deranged manifesto, legitimate papers on the genetics of intelligence and the genetic basis of Jewish ancestry, coupled with the persistent pseudoscience of the great replacement.
Science strives to be apolitical, to rise above the grubby worlds of politics and the psychological biases that we are encumbered with. But all new scientific discoveries exist within the culture into which they are born, and are always susceptible to abuse. This does not mean we should shrug and accept that our scientific endeavours are imperfect and can be bastardised with nefarious purpose, nor does it mean we should censor academic research.
But we should know our own history. We teach a version of genetics that is easily simplified to the point of being wrong. The laws in biology have a somewhat tricksy tendency to be beset by qualifications, complexities and caveats. Biology is inherently messy, and evolution preserves what works, not what is simple. In the simplicity of Mendels peas is a science which is easily co-opted, and marshalled into a racist, fascist ideology, as it was in the US, in Nazi Germany and in dozens of other countries. To know our history is to inoculate ourselves against it being repeated.
This article was amended on 20 June 2022. The mass shooting in Buffalo, US, in May 2022 was at a supermarket, not a school as an earlier version said.
Control: The Dark History and Troubling Present of Eugenics by Adam Rutherford is published by Weidenfeld & Nicolson (12.99). To support the Guardian and Observer order your copy at guardianbookshop.com. Delivery charges may apply
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Where science meets fiction: the dark history of eugenics - The Guardian
Researchers at Boston University on Thursday announced a breakthrough discovery about a gene associated with the risk of Alzheimer's disease.This risk is tied to the APOE4 gene, which destroys brain cells if a person carries the gene. It puts them at higher risk for developing the disease, although inheriting the gene doesn't necessarily mean one will develop the disease, according to the NIH. The APOE3 gene is the most common and isn't known to affect Alzheimer's risk.Although the link between the gene and the disease is well established, the mechanism responsible for the underlying risk in brain cells has been unclear in research until the recent discovery, according to researchers from the BU School of Medicine.Alzheimer's is a progressive neurodegenerative disorder and is the most common cause of dementia. It affects more than 5.8 million individuals in the United States.In the recent finding, two important aspects of the gene were discovered the human genetic background associated with the gene is unique to APOE 4 patients and the genetic defects are unique to human cells.Our study demonstrated what the APOE4 gene does and which brain cells get affected the most in humans by comparing human and mouse models. These are important findings as we can find therapeutics if we understand how and where this risk gene is destroying our brain," said assistant professor in the BU School of Medicine Julia TCW.Researchers used three models to investigate the effects of the gene on brain cells, human-induced pluripotent stem cells, post-mortem human brains and experimental models.It is also known that the gene carries a risk for Parkinson's disease and rare genetic diseases.
Researchers at Boston University on Thursday announced a breakthrough discovery about a gene associated with the risk of Alzheimer's disease.
This risk is tied to the APOE4 gene, which destroys brain cells if a person carries the gene. It puts them at higher risk for developing the disease, although inheriting the gene doesn't necessarily mean one will develop the disease, according to the NIH. The APOE3 gene is the most common and isn't known to affect Alzheimer's risk.
Although the link between the gene and the disease is well established, the mechanism responsible for the underlying risk in brain cells has been unclear in research until the recent discovery, according to researchers from the BU School of Medicine.
Alzheimer's is a progressive neurodegenerative disorder and is the most common cause of dementia. It affects more than 5.8 million individuals in the United States.
In the recent finding, two important aspects of the gene were discovered the human genetic background associated with the gene is unique to APOE 4 patients and the genetic defects are unique to human cells.
Our study demonstrated what the APOE4 gene does and which brain cells get affected the most in humans by comparing human and mouse models. These are important findings as we can find therapeutics if we understand how and where this risk gene is destroying our brain," said assistant professor in the BU School of Medicine Julia TCW.
Researchers used three models to investigate the effects of the gene on brain cells, human-induced pluripotent stem cells, post-mortem human brains and experimental models.
It is also known that the gene carries a risk for Parkinson's disease and rare genetic diseases.
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Researchers discover genetic variants that increase Alzheimer's risk - WCVB Boston
This article is sponsored by BASE10 Genetics. This article is based on a Q&A discussion that took place during the Clinical Conference, with Dr. Phil Jacobson, Senior Medical Director at Base10 Genetics. The Q&A took place on May 5, 2022. The discussion has been edited for length and clarity.
Skilled Nursing News: Im here with Dr. Phil Jacobson whos the senior medical director of the company. Hell share with you a little bit about himself and what they do.
Dr. Phil Jacobson: BASE10 provides data-driven technology platforms and software solutions to help improve patient care, as well as reduce costs and reduce the time burden for staff. I have an extensive background in academic and clinical practice in managing respiratory viruses, as well as with quality improvement, including designing sepsis alert tools and things that use technology to enhance patient care.
What is clinical decision support and how has it evolved?
Historically, clinical decision support I think of as clinical pathways or clinical protocols for specific disease entities, which can standardize care, and those pathways when theyre instituted correctly, they resulted in improved outcomes, as well as considerable cost savings. What weve done at BASE10 is develop some of these pathways in a way that uses consensus-based guidelines from authoritative entities such as AMDA, CDC, Infectious Diseases Society of America, and American Thoracic Society.
They come from the best experts in the world with these consensus ways of diagnosing and managing these things. Im going to focus my comments today mostly on the infectious disease management aspect of this. Now, the way its evolved though, its gone beyond just saying to the providers and the nurses, heres a pathway, heres an algorithm, figure out how your patient fits into this.
Now, what weve been able to do at BASE10 is create software that actually reads the electronic chart and uses pertinent data from the patient, and pinpoints the area of the algorithm which is specific for that patient, so that you get very pointed recommendations about diagnosis and management from the software that we provide.
What pathways and tools have worked in the long-term care settings, and are they widely used?
Pathways are used throughout hospitals and some long-term care facilities. Theres some very interesting recent literature on pathways, most notably the one from the University of Missouri investigators. They developed the Missouri Health Quality Initiative. What these investigators did was they looked at 11 facilities in the St. Louis area, and they instituted clinical pathways for specific entities such as bacterial pneumonia, urinary tract infection, and influenza.
What they did was they planted nurse practitioners every day in each of those facilities, in addition to instituting these clinical pathways. Then what they found was that by using the clinical pathways and the nurse practitioners, they were able to get earlier detection and earlier treatment for these infectious disease entities, thereby reducing the severity of illness, and ultimately, considerably reducing hospitalizations over a six-year period. They demonstrated a considerable reduction in hospitalizations with improved care, early detection, and a savings of approximately $35 million.
Now, the issue becomes how do you implement this at scale, having a practitioner on site every single day in this environment that may not be so simple? The next best thing we think is to have this technology answer, the software that can actually read the patient chart and have the pertinent data available to providers who are offsite so that they can better manage the patients without being physically present. We think that that could be something thats really important.
Theres another very important study done out of Ontario, Canada. This one didnt involve nurse practitioners, but it involved 22 facilities looking specifically at the management of bacterial pneumonia to see if they could prevent hospitalizations by using clinical pathways. The clinical pathway they used was one where they instituted antibiotics IV fluids, pulse oximetry, and supplemental oxygen, if necessary. Half the patients were on the clinical pathway track and the other half just went about with standard operating procedures.
In some cases, they used standing orders to empower the nursing staff to just institute the pathway when the diagnosis was made, or the providers would be saying, okay, we got the diagnosis, go ahead and institute the pathway without giving specific explanations of what to do. What they found was once again they were able to get earlier detection, and earlier treatment of bacterial pneumonia, and they had marked improvement over the controls in terms of hospitalization rate for the pathway group so obviously improved care, but so much so also that they saved on average $1,000 per patient per diagnosis of pneumonia. Once again, another demonstration of how pathways or protocols can enhance, and this one didnt even use the technology that I was talking about or the software reading the chart.
What are the implications of clinical decision support on quality and medication management which is something we hear in the nurse space all the time right now?
The three basic things that this can accomplish are improved care, cost savings, and time savings for the staff. All things that Ive heard throughout the theme of todays activities. In terms of the pathways themselves and keeping up to date with consensus guidelines, thats one of the things that were doing. Were taking the experts in the fields from all those authoritative entities. Were able to give the best possible practice of these pathways and keep them up to date.
Now, some things are static but if you think about the pandemic how much has changed in terms of what the recommendations are, the monoclonal antibodies arent working very well, etc. Were able to stay up to date about what the treatment guidelines are and what the diagnostic guidelines are from these entities.
In addition to that, it allows for these disparate points of data from the patient specifically to be captured in a way thats useful for the management of the patient. Instead of the providers and the nurses scrounging around the chart, looking for data such as allergies or previous infection or renal function, or things that are really important, the software is able to provide this in a nutshell right in front of the face and provide recommendations associated with it.
Our software even uses data from antibiograms so that you can know what the resistance patterns are within the particular facilities. Up until this time, Ive been emphasizing early detection and early diagnosis to prevent hospitalizations, to get better treatment, to have decreased severity of illness, but a very important aspect of infection management is preventing overdiagnosis and overtreatment, and theres a strong public health initiative about antibiotic stewardship.
We dont want to overuse antibiotics. What happens when we use antibiotics too much? For one thing, antibiotics have side effects just like any other drug. If you think about long-term care residents, there are already potentially a lot of other drugs, and the potential for drug-drug interactions which are adversarial is considerable. Thats one place where its a problem.
The use of antibiotics can create an environment thats ripe for an infection called Clostridium difficile to thrive. Clostridium difficile can cause severe gastroenteritis which can be life-threatening, and in fact, does kill many patients every year. Maybe the most common and worst of all, the problems associated with the overuse of antibiotics is a multiple of drug resistance. The more we use antibiotics, the more pathogens evolve, so that they become resistant. When true infections occur, these antibiotics arent available to us to use, to treat these infections. This is a major public health problem in which thousands and thousands of people die every year because of multiple drug resistance.
For these reasons, we have to find a way with technology to pinpoint, to thread the needle of catching infections early, and get them treated while preventing overdiagnosis and overtreatment for all of these reasons.
Can you tell me what the cost benefits are? What cost benefits can be seen by implementing a successful clinical decision support system?
There are direct and indirect cost benefits, and the direct cost benefits are things like prevention of hospitalization, getting less severe ailments, and on the other side of that, prescribing too many drugs and too many lab tests are also very costly. There are some very direct, measurable cost benefits associated with using appropriate infectious disease management, and threading that needle as I mentioned about not underdiagnosing but not overdiagnosing. Then there are a number of indirect costs associated with it.
If you think about the time that a nurse spends just administering the drug seems fairly simple, but what does a nurse have to do? They have to find the drug wherever its stored, whether its a refrigerator or some compartment closet. They have to get that open. They have to use a scanning tool. They have to check the right drug, the right patient, and the right dose.
They have to come and administer the drug. If its an oral drug, they may have to bring some water. Then, of course, theres making sure the patients able to take the drug plus the charting that goes along with it.
Every seemingly simple task has a lot of micro-tasks associated with it and is time-consuming. If you think about the scheduled drug, well, that can really throw off workflows. These are the types of indirect time-related costs that could be associated with this problem. We estimated at BASE10 that just for infectious disease management alone, we believe that up to 75% based on CDC reports and other people that about 75% of antibiotics prescribed, are inappropriate or overused. Thats a lot, and so just having this antibiotic stewardship can be something really important.
In addition to that, we estimate that savings, with appropriate infectious disease management direct costs of that facility of about 100 residents, could save about $80,000 per year just by getting this right, and from indirect cost and time, about 80 hours per year per 100-bed facility. We could see that theres a lot of different things that could be done to save time and to save money.
Another thing that BASE10 does to help facilities is reporting. Were talking about infectious diseases right now. Theres a lot of responsibility for state and government reporting. As many of you know during the pandemic, COVID reporting was a major burden on facilities, very time-consuming, and very difficult. Fifty-seven percent of facilities incurred citations for inappropriate or underreporting of COVID, and these citations come with hefty fines, and weve instituted a way with our technology to offer the service and take on the burden of reporting.
Additionally, the clients have been extremely pleased with the amount of time that was saved from the staff not being burdened with this. In short, I think that weve heard a lot about lobbying and doing things with the government, but we at BASE10 are focusing on creative solutions to how to take better care of the patients, how to do it at lower costs, and how to do it with reducing the burden of time thats obviously on the shorthanded facilities.
BASE10 Genetics brings hope to the lives of vulnerable patients by helping them access the latest in precision medicine technologies through our disease management platform. To learn more, visit http://www.base10genetics.com.
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Clinical Conference: A Discussion with BASE10 Genetics - Skilled Nursing News
Fathers Day is celebrated on different days in various places around the world, but most of them honor their dads on the third Sunday in June. Somehow it is always so difficult to come up with an idea of what could be the best present to show our love to our dads as they rarely need anything, and actually, nothing seems good enough to express our gratitude.
But what it takes is just a little bit of creativity. This woman on TikTok decided that she could recreate some of her dads photos from his youth and make a cute video for him, showing how similar they actually look.
More info: TikTok
Image credits: lakynthrifts
TikToker lakynbowman, also known as Lakyn Bowman, is a 26-year-old woman from West Tennessee who has a business of transforming her thrift finds into home decor to promote sustainability.
She is also quite busy creating content on social media, especially on TikTok, where she shares her thrift finds for her home, her business and also shows what outfits can be composed of second-hand clothing.
Image credits: lakynthrifts
Image credits: lakynthrifts
Bored Panda has already talked about one of her videos that went viral with 8.8 million views a few months ago. In that video, Lakyn decided to recreate her grandmothers photos from when she was young as a gift for her birthday.
She wanted to surprise her grandma and did her hair and makeup exactly like in the pictures. The granddaughter also found some clothes that looked very similar and posed in the same way as her grandma did. If you would like to read more, you can follow this link.
Image credits: lakynbowman
This time we are looking at her latest photo recreation video that she dedicated to her dad in honor of Fathers Day. She again found similar-looking clothes and manipulated her hair to look like she had a short bob like her dad when he was a kid. She nailed the poses and the comparison shots are proof that these two people are definitely family.
Lakyn herself confessed in the text overlay in the video that she was a bit freaked out looking at her dads old photos and seeing how much the two of them look alike, and its fascinating to observe with the naked eye how genes work.
Image credits: lakynbowman
Image credits: lakynbowman
While seeing photos side by side is very satisfying, the best part about this gift was the dads reaction. Lakyn posted a video of her dad watching the montage for the first time and it made the dad quite emotional as he couldnt stop smiling.
The man recognized his jersey and his coat, praising his daughter for doing such a good job. Actually, he was so impressed that he wanted to see the video a couple of more times.
You can hear Lakyn asking her dad which of the recreations he liked the most and his answer was I like all of them! But he was especially happy about the one in which she was wearing a red jacket because it was the actual jacket he wore in that photo.
The dad also revealed a little bit of more context to the photo in which he was wearing a blue shirt. Apparently, he was a cheerleader for a while because he wasnt allowed to play more than 2 basketball games on a weekend, so he asked if he could participate in the game as a cheerleader.
Image credits: lakynbowman
Image credits: lakynbowman
The dad said that he remembered all of the photos and you could see the nostalgia in his eyes reminiscing about the times he did sports. He also said that he really misses his dark hair, as now it has silver strands in it.
He noticed that Lakyn even has his eyebags and they both agreed that Lakyn is definitely her fathers kid. Lakyn confessed that she was really excited to do this because couldnt grasp how her face could be so similar to her dads.
Image credits: lakynbowman
Image credits: lakynbowman
Before surprising her dad with the video, Lakyn did one for her mom on Mothers Day as well. Lakyn isnt so sure that she has any physical similarities with her mom, but she has heard from some people that they do. With the power of makeup, clothes, poses and filters, it would be hard to think that the two women are strangers.
Moms reaction was as wholesome as the dads. She loved the result and told Lakyn that the swing picture in the park was actually taken by her, even though she didnt remember that because she was so little.
Image credits: lakynbowman
Its quite impressive how children can grow up looking so similar to their parents and even though its easily explained by science, its mesmerizing nonetheless.
Have you ever looked at your parents pictures from their youth and were surprised to discover you now look like them? Do you see the similarities between Lakyn and her dad in these pictures? Let us know in the comments!
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Genetics Really Said Copy And Paste: People Are Amazed At How Similar This Woman Looks To Her Dad In These 5 Recreation Photos - Bored Panda
Varicose veins are a very common manifestation of chronic venous disease, affecting over 30% of the population in Western countries. In America, chronic venous disease affects over 11 million men and 22 million women aged 4080 years old. Left untreated it can escalate to multiple health complications including leg ulcers and ultimately amputations. A new international study by Oxford researchers published on 2 June 2022 in Nature Communications establishes for the first time, a critical genetic risk score to predict the likelihood of patients suffering with varicose veins to require surgery, as well as pointing the way towards potential new therapies.
In a vasttwo-stage genome-wide association study of varicose veins in 401,656 individuals from UK Biobank, and replication in 408,969 individuals from 23andMe, Oxford researchers identified 49 genetic variants that increase the risk of varicose veins. They highlighted pathways including problems with the connective tissues of the body, and the immune system as key players in varicose vein pathology.
This study was an interdisciplinary collaborative effort across the Medical Sciences Division at the University of Oxford. Researchers from theNuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, theNuffield Department of Surgical Sciencesand theNuffield Department of Women's & Reproductive Healthworked withan Americancommercial, direct to consumer genotyping company called23andMeto explore which people were moresusceptible to developingVaricose veins.
Lead authorProfessor Dominic Furnisscommented: 'The inclusion of surgeons in the research team was vital as they enabled the identification of patients whose disease was more severe, and they had therefore had surgery. This lead to the discovery of49 genetic variants at 46 areas into the genome thatpredisposes to Varicose veins. This breakthroughgreatly improves our team's knowledge of the biology of Varicose veins, and it will be the foundation of further research into the biology and potentially new treatment'.
Co-authorProfessor Krina Zondervansaid: 'This large study brings together a great deal of new evidence of the genetics underlying varicose veins, a condition that is highly prevalent in women and in pregnancy. It opens up exciting new avenues for the development of new future treatments.'
Reference:Ahmed WUR, Kleeman S, Ng M, et al. Genome-wide association analysis and replication in 810,625 individuals with varicose veins. Nat Commun. 2022;13(1):3065. doi: 10.1038/s41467-022-30765-y
This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.
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49 Genetic Variants That Increase the Risk of Varicose Veins Identified - Technology Networks
Different structures were detected between the Brazilian and US genetic bases
Principal component analysis (PCA) revealed that most Brazilian cultivars (red circle) were grouped with a subgroup of US cultivars (green circle). Most of them belonged to MG VI, VII, VIII and IX (Fig.1A). Based on the Evanno criterion (Fig.1B), the structure results based on four groups (K=4) showed a high K value (312.35), but the upper-most level of the structure was in two groups (K=2; K=1885.43).
Population structure analysis between Brazilian and US germplasms. (A) Principal component analysis of Brazilian and US soybean cultivars based on SNPs markers; (B) Delta K as a function of the number of groups (K); (C) assignment coefficients of individual cultivars (bar plots) considering K=2; and (D) considering K=4.
Considering K=2 (Fig.1C), the Brazilian cultivars jointly presented an assignment to the Q1 group (green) equal to 86.7% which was much higher than that observed for the US cultivars (43.9%). Considering K=4 (Fig.1D), the Brazilian cultivars jointly presented an assignment to the Q2 group (red) of only 4.7% while the US cultivars jointly presented an assignment to the Q2 group of 27.4%. The Q1 group (green) has a lower assignment in Brazilian cultivars than US accessions (11.1%, and 30.1%, respectively). These results demonstrate that the set of Brazilian cultivars has a narrower genetic base compared to US cultivars.
When we compared the cultivars between maturity groups, we observed a clear differentiation between early and late groups. The highest genetic distances (0.4158) observed were between MG 000 and MG VIII-IX cultivars (Supplementary Table S1).
To examine the influence of maturity groups on population structure, we analyzed the average assignment coefficients (K=4) of Brazilian and US cultivars for each maturity group (Supplementary Figure S1). Brazilian cultivars from maturity group V presented Q1, Q2, Q3, and Q4 equal to 30.4%, 1.9%, 32.1, and 32.0%, respectively; US cultivars from this same maturity group (V) presented means of Q1, Q2, Q3, and Q4 equal to 9.2%, 8.2%, 65.1%, and 17.6%, respectively. This result indicates that, although belonging to the same maturity group, the Brazilian group V cultivars present considerably different allelic frequencies than the US cultivar group V cultivars, especially for Q3 and Q4. US cultivars belonging to earlier maturity groups (00, 0, I, and II) had significantly higher mean assignment coefficient to Q2 group (red) compared to other later maturity groups (V=8.2%, VI=8.1%, VIII=5.0%, and IX=13.6%). In the case of Brazilian cultivars, the average assignment coefficients for Q2 were much lower (V=1.9%, VI=4.2%, VII=5.6%, VIII=4.9% and IX=4.9%). These results demonstrate an important allelic pool that distinguishes early to late genetic materials present in Q2.
In general, the Brazilian germplasm showed few differences between maturity groups (Supplementary Table S1 and Fig.2A). This was also observed when we generated a population structure analysis exclusively with these cultivars (Fig.2C). In contrast, the US germplasm showed a high variation of genetic distance when we analyzed their maturity groups (Supplementary Table S1) with a clear clustering of cultivars (Fig.2B), which is more obvious when we observed their exclusive population structure analysis (Fig.2D). The results show that early cultivars tend to be genetically distant from late cultivars in the US. The maturity groups from the southern-breeding program of the US (V, VI, VII, VIII, and IX) tend to be less genetically divergent versus northern groups (00, 0, I, II, III, and IV). This agrees with previous studies indicating distinct Northern and Southern genetic pools in the US6. There is a low divergence among US soybean cultivars from maturity groups higher than V (Fig.2B). In contrast, cultivars from MG 00 and 0 were more genetically distant from cultivars of MG III and IV while maturity groups I-II were an intermediate group. The population structure analysis showed a high influence of Q2 in cultivars with MG 00-II. For cultivars in MG III and IV, we observed an increase of Q1. Finally, there is a high influence of Q3 in cultivars with maturity groups higher than V, which agrees with the genetic distance data.
Population structure analysis of Brazilian and US cultivars according to their maturity groups. Principal component analysis (PCA) within Brazilian (A) and US (B) germplasms for each maturity groups; population structure of the Brazilian (C) and the US (D) genetic basis arranged according to their maturity groups.
The results demonstrate that both genetic bases had few increases in genetic distance among modern genetic materials (releases after 2000) when compared to cultivars from the 1950s to 1970s (Supplementary Table S2). According to the IBS genetic distance mean, the Brazilian genetic base was more diverse over the decades compared to US germplasm especially when we compared cultivars released before the 1970s and released after the 2000s (Supplementary Table S2).
Average assignment coefficients (Q1, Q2, Q3, and Q4) from genetic structure results were calculated for both germplasm pools. All accessions were sorted according to their origin and decade of release (Fig.3). We observed high genomic modifications over the decades in the Brazilian germplasm. Modern genetic materials (20002010) had Q1, Q2, Q3, and Q4 values of 36.8%, 2.3%, 31.7%, and 26.0%, respectively, while old accessions (1950-1960s) had means of Q1, Q2, Q3, and Q4 equal to 1.6%, 6.6%, 7.0%, and 84.7%, respectively. A high decrease was observed for Q4 starting in the 1990s whereas Q1 and Q3 highly increased during the same period. For the US genetic base, we observed an increase of Q3 and a decrease of Q2 over time. Old cultivars (19501970) had Q1, Q2, Q3, and Q4 values of 36.0%, 33.7%, 12.3%, and 18.1%, respectively, while modern cultivars (20002010) had Q1, Q2, Q3, and Q4 of 24.3%, 17.5%, 40.3%, and 17.8%, respectively.
Mean assignment coefficients of the Brazilian and US cultivars belonging to the different decades of release (1950 to 2010) to STRUCTURE groups (Q1, Q2, Q3, and Q4) considering K=4.
Modification during the 1990s became more evident upon analysis of the PCA and genetic structure results of the Brazilian genetic base considering the decades of release (Fig.4A and C). We observed an increase in the influence of the Q2 in modern genetic materials (20002010) when we compared the results to old genetic materials (19501970). In contrast, the US genetic base showed few variations over time according to the average of genetic distance (Supplementary Table S2), PCA, and the exclusive population structure analysis (Fig.4B and D). These results suggest a large influence of new alleles in the Brazilian germplasm after the 1990s.
Population structure of Brazilian and US cultivars according to their decade of release. Principal component analysis (PCA) within Brazilian (A) and US (B) germplasm for each decade; population structure of the Brazilian (C) and the US (D) genetic bases arranged according to their decade of release.
Seventy-two SNPs with FST0.4 between Brazilian and US cultivars were identified (Supplementary Table S3). These SNPs are located on chromosomes 1, 4, 6, 7, 9, 10, 12, 16, 18, and 19 (Supplementary Figure S2). Twenty-six 100-Kbp genomic regions with a high degree of diversification between Brazilian and US genetic bases were also found (Table 1). The results for Tajimas D showed that these regions had balancing events that maintained the diversity of their bases. Two regions on chromosome 6 (47.3 47.4 Mbp and 47.347.4 Mbp) and another on chromosome 16 (31.1031.20 Mbp) had few variations in Brazilian accessions (Supplementary Table S4). In contrast, the allele distribution for most of the SNPs present in these genomic regions in US germplasm was higher compared to Brazilian germplasm. An opposite scenario was observed for the other three regions located on chromosomes 7 (6.30 6.40 Mbp), 16 (30.70 30.80), and 19 (3.00 3.10) (Supplementary Table S4). The allele variance was higher in the Brazilian genetic base than US germplasm for these three intervals.
Six SNPs located close to maturity loci E1 (Chr06: 20,207,077 to 20,207,940bp)14, E2 (Chr10: 45,294,735 to 45,316,121bp)15, and FT2a (Chr16: 31,109,999 to 31,114,963)16 had a large influence on the differentiation of the Brazilian and US genetic bases (Fig.5). For the SNPs ss715607350 (Chr10: 44,224,500), ss715607351 (Chr10: 44,231,253), and ss715624321 (Chr16: 30,708,368), we found that the alternative allele was barely present in US germplasm whereas the Brazilian genetic base had an equal distribution between reference and alternative alleles. When we examined the SNPs ss715624371 (Chr16: 31,134,540) and ss715624379 (Chr16: 31,181,902), the frequency of the alternative allele remains low in the US germplasm. However, the alternative alleles of these two SNPs were present in more than 78% of the Brazilian accessions in contrast to the previous three SNPs. Finally, the alternative allele for SNPs ss715593836 (Chr06: 20,019,602) and ss715593843 (Chr06: 20,353,073) were extremely rare in Brazilian germplasm with only 2% of the accessions carrying them. In contrast, the US germplasm had an equal distribution of reference and alternative alleles in their accessions. However, all accessions with the alternative alleles belonged to MGs lower than VI with less than five cultivars in MG V.
The allele frequency distribution for SNPs close to loci (A) E1 (chromosome 6), (B) E2 (chromosome 10), and (C) FT2a (chromosome 16) in Brazilian and US germplasms.
Ten SNPs were identified related to the genes modifier mutations present in Brazilian and US germplasm; these were distributed on chromosomes 4, 6, 10, 12, 16, and 19 (Supplementary Table S5). These SNPs had differing allele frequencies and could distinguish both genetic bases. Six modifications had a clear influence on the maturity of the accessions whereas two of these had a large influence in some decades of breeding (Supplementary Figure S3). The SNP ss715593833 had a similar haplotype as two SNPs described as close to the E1 loci (ss715593836 and ss715593843) due to the linkage disequilibrium (LD) among them. At the end of this chromosome, we also observed another three relevant SNPs in LD: ss715594746, ss715594787, and ss715594990. In the US germplasm, we observed a decrease in the alternative allele in accessions with MG values lower than IV. We detected other relevant modifications on chromosome 12 for SNPs ss715613204 and ss715613207. Both SNPs had a minor allele frequency higher than 0.35 in Brazilian germplasm with an increase in the alternative allele in cultivars with MGs higher than VII. In contrast, alternative alleles for both SNPs were extremely rare in the US germplasm except for accessions with MG higher than VII.
There were 312 genomic regions that differentiate northern (00 IV MG) and southern (V IX MG) cultivar groups (Supplementary Table S6), which included the Dt1 locus. We compared the SNPs observed in the genomic region close to the Dt1 gene (Chr19: 45.2045.30 Mbp) with the growth habit phenotype data available for 284 lines at the USDA website (www.ars-grin.gov). The phenotypic data suggests that these SNPs are associated with growth habit. Moreover, our diversity analysis demonstrated a putative selective sweep for the Dt1 gene in the northern germplasm, which has the dominant loci fixed for Dt1; the southern lines tend to be more diverse compared to the northern US cultivars (Supplementary Table S7). In contrast, other genomic regions have lower nucleotide diversity in southern accessions compared to the northern accessions. An important disease resistance gene cluster was observed on chromosome 13 bearing four loci: Rsv1, Rpv1, Rpg1, and Rps317,18,19,20. In this interval, we observed two genomic regions (29.70 29.80 Mbp and 31.90 32.00 Mbp) under putative selective sweeps in the southern germplasm (Supplementary Table S8).
Besides these regions, 1,401 SNPs with FST values higher than 0.40 between northern and southern US cultivars were also identified (Supplementary Table S9). In addition, there were 23 SNPs with FST values higher than 0.70 spread on chromosomes 1, 3, 6, and 19. Seven of them were located close to another important soybean locus: E1 (involved in soybean maturity control) (Supplementary Table S10). These SNPs clearly differentiate northern and southern US cultivars with the reference allele fixed in northern genetic materials, and the alternative alleles in southern accessions. Gene modification in US germplasm was also detected in our study. One hundred twenty-six SNPs were identified in FST analysis modifying 125 genes (Supplementary Table S11).
Finally, we detected 1,557 SNPs with FST values higher than 0.40 between super-early cultivars (00 0 MG) and early cultivars (III IV MG) (Supplementary Table S12). Seventeen SNPs had FST values higher than 0.70 spread on chromosomes 4, 7, 8, and 10. The SNPs identified on chromosome 10 were close to the E2 locus. We also detected 168 SNPs associated with modifications in 164 genes (Supplementary Table S13).
We observed two SNPs with large differences in allelic frequencies in the Brazilian germplasm (Supplementary Figure S4). On chromosome 4, SNP ss715588874 (50,545,890bp) had a decrease of the allele A in cultivars released after 2000 with only nine of the 45 Brazilian cultivars with this allele. A similar situation was observed on chromosome 19 for ss715633722 (3,180,152bp) with half of the modern accessions having the presence of allele C. Both SNPs had similar distribution according to their decades in the US genetic base with a large influence of reference alleles.
There were 126 genomic regions spread on almost all soybean chromosomes in Brazilian cultivars. The only exception was chromosome 20 (Supplementary Table S14). Our analysis between cultivars released before and after 1996 identified 30 putative regions under breeding sweep events. Thirteen regions had a decrease in diversity in modern genetic cultivars according to Tajimas D and results. Two genomic regions observed were close to important disease resistance loci: one on chromosome 13 (30.30 30.40 Mbp) close to the resistance gene cluster (with Rsv1, Rpv1, Rpg1, and Rps3)17,18,19,20 and another on chromosome 14 (1.70 1.80 Mbp) with a southern stem canker resistance loci21,22. In contrast, thirty-one genomic regions had an increase in diversity in modern cultivars, which suggested putative introgression events in these accessions. Two genomic regions were observed, on chromosome 2 (40.90 40.10 Mbp) and 9 (40.3040.40 Mbp). Thesewere previously reported to have an association with ureide content and iron nutrient content, respectively23,24.
Besides these regions, there were also 409 SNPs with FST values higher than 0.40, distributed across all soybean chromosomes. There were 73 SNPs with FST values higher than 0.70 (Supplementary Table S15). Some of these SNPs were also reported to be associated with important soybean traits such as plant height, seed mass, water use efficiency, nutrient content, and ureide content23,24,25,26,27.
We also identified gene modifications with a high impact on the Brazilian genetic base when we compared cultivars according to their decade of release. Of the 409 SNPs identified in FST analysis, we observed 40 SNPs causing modifications in 39 soybean genes (Supplementary Table S16). Three SNPs with FST values higher than 0.70 were associated with non-synonymous modifications: ss715588896 (Glyma.04G239600 a snoaL-like polyketide cyclase), ss715607653 (Glyma.10g051900 a gene with a methyltransferase domain), and ss715632020 (Glyma.18G256700 a PQQ enzyme repeat).
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Genetic relationships and genome selection signatures between soybean cultivars from Brazil and United States after decades of breeding | Scientific...
PAID CONTENT | Earlham's Judy Marshall went to her primary care physician for help with losing weight...he told her that "genetics" would not allow that to happen. Judy changed doctors looking for an answer...their answer was a bunch of pills. Judy decided to visit with Dr. Vince Hassel to see if the ChiroThin system would be the solution to her weight loss and health goals. The answer is a BIG YES! She lost 20-25 pounds on the program and is now even more focused on her own well-being and is ecstatic with the results! If you follow his advice and stick to the program, Dr. Hassel's plan WILL WORK where other's fail, period. LEARN MORE at http://www.weightlossindesmoines.com or call/text 515-423-8396
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Earlham woman loses weight with ChiroThin after her own doctor told her "genetics" wouldn't allow that to happen | Paid Content - Local 5 -...
Fernside dairy farmer Julie Bradshaw is passionate about the ability of genetics to create the most efficient herd of cows. Photo / Supplied
A five-year irrigation study has helped Julie Bradshaw make science-based decisions on her Fernside dairy farm.
Bradshaw also uses genetics to improve her herd, as part of her goal to reduce her farm's environmental footprint.
Bradshaw took part in the National Institute of Water and Atmospheric Research (NIWA) co-innovation study from 2016 to 2021.
The study provided landowners with real-time data and forecasts to make science-based irrigation decisions.
This data included measured rainfall, soil moisture, soil temperature, drainage and estimated evaporation, as well as two, six and 15-day rainfall and weather forecasts.
The practical study gave each farmer a fantastic insight into their own land and irrigation practices, while also providing a broader picture of what was happening in the catchment, Bradshaw said.
Having access to precise data also helped Bradshaw and her neighbouring farmers to apply exactly the right amount of irrigation and fertiliser at the right time which aided in mitigating environmental impacts.
"It was amazing. We had so much data and information that we had never had before," she said.
"[This] has helped us make decisions about irrigation and fertiliser use ... backed up by facts and scientific data."
Having these records also made it easier for Farm Environment Plans and audits, Bradshaw said.
"We can show that we have been using our water resource correctly."
All farmers involved in the study were able to see each other's data and this high level of transparency helped the group understand what was happening in various parts of the catchment, Bradshaw said.
"We have always been very open - it's just information and data about water. Getting to know more about other farms is helpful because we are learning from each other along the way."
Although the study had ended, Bradshaw still logged in to the group's website most days to enable her to make accurate decisions about water allocation for the Cust Main Drain Water User's Group.
The group was established 25 years ago to manage water allocation during the irrigation season when water takes were restricted.
"It has been such a bonus to be able to see where everyone is sitting in terms of the moisture on their paddocks, as this helps me to allocate the water more accurately to where it is needed.
"Not only do you see today's moisture levels but you also get a future reading, so you can see where things are heading."
Last year Bradshaw and her husband Peter received the Sire Proving Scheme Farmers of the Year Award from the Livestock Improvement Corporation (LIC).
The couple had worked with LIC for 15 years and the award recognised their record-keeping and commitment to having their entire herd DNA-tested.
"We have a KiwiCross herd which is a cross between Holstein-Friesian and Jersey cows," she said.
"I am really passionate about the ability of genetics to improve your overall herd quality. Having 99 per cent of the ancestry of the cows recorded is an immense help when doing the breeding."
Bradshaw believed improving the overall quality of the herd meant, that if she needed to reduce her stock levels in the future, she knew exactly which animals had the best genetics to meet future farming limits.
She was committed to using science to reduce her impact on local waterways.
"Genetics and DNA testing are so helpful when you think about the possibility of reducing herd numbers in the future.
"We must think ahead and use science to help us make the best decisions both for our business operation and for the environment."
Bradshaw was also participating in a six-month farming project, which examined how the next generation of farmers used innovation to improve their practices.
Waimakariri Landcare Trust (WLT) and Waimakariri Irrigation Limited (WIL) have partnered with the Ministry for Primary Industries (MPI) for this project, with support from MPI's Sustainable Food and Fibre Futures fund, along with Environment Canterbury, Ballance, and DairyNZ.
Bradshaw aimed to learn more about genetics through the course of the MPI innovation project.
"We have three cows that LIC would like a bull calf out of, so that will be an interesting process to follow.
She was also keen to use the MPI innovation project to improve the quality of the grass throughout the farm.
"With the colder and wetter spring we had last year, followed by a cloudy and cooler summer, our grass didn't contain enough sugar and energy for the cows. We want to work on that throughout this project."
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Science and genetics used to boost Fernside farm - New Zealand Herald
Frans Jordaan and Dr Ben Greyling, researchers at the Agricultural Research Council, write about the importance of choosing bulls based on breeding and performance indices, rather than their visual appearance.
The days of buying bulls based purely on their functional appearance are over. While functional efficiency is important, it is also crucial that the buyer does his or her homework regarding the genetic potential and merit of the bulls prior to the auction so as to be able to make an informed decision on the day of the auction.
Auction catalogues are, however, not always easy to interpret and can be challenging for commercial and stud breeders during the auction amidst a lot of activity going on and no time to waste between the lots on auction.
If breeders are knowledgeable regarding the interpretation of best linear unbiased prediction (BLUP) values, which depict an animals genetic potential, it can be a huge advantage in helping them meet their breeding objectives much quicker.
It needs to be asked whether breeders really understand these figures and the use of breeding values as a selection tool for choosing the best bull for their herds.
It will always be risky to buy a registered bull without breeding values, especially since a bull can have such a huge genetic impact on a cowherd. In addition to this, genetic improvement is a slow process and can only be achieved over generations.
This implies that the wrong choice of bull can be so detrimental to your herd that it can be costly to recover from the damage caused and will be a setback to achieving your breeding goals.
Always keep in mind that genetic change is easy to bring about, but to accomplish it in a positive direction (improvement in weaning weights and breeding values, for example) is much more difficult to achieve. If a stud breeder succeeds in achieving genetic improvement, it will also be of benefit to commercial beef producers by enabling them to increase profitability in their enterprises.
Often, experienced breeders will say that they are quite familiar with certain breeding lines and bulls in the breed, and that they can recognise the qualities they want in a bull.
However, variation within a breed is also a reality; frame type, for instance, can differ within a breed, and bulls at a younger age that are still in a developing phase can make visual selection quite challenging. Also keep in mind that the visual appearance of an animal is not just the result of breeding, but a combination of breeding (genetics), management and feeding.
It is also important to note that good genetics can be hidden with poor feeding, and bad genetics with good feeding. Although functional efficiency will also always be important, the wrong choice of bull can have a negative effect that may only be discovered after one generation or, in some cases, even later in the production cycle of a calf crop.
A phenotypic wean index of above 100 is really no guarantee of good genetic material. It only implies that the animal gave an above-average performance within his own contemporary group. The genetic quality of the group will determine the level of genetics.
Important factors to consider related to genetic principlesThe following are factors to considering when choosing a bull for your operation:
Blup valuesIt is important to keep in mind that breeding values across breeds are not comparable, which means that a breeding value of +5 for the weaning weight of a Bonsmara bull is not comparable with that of a Simmentaler bull with the same breeding value of +5.
The breed average of the specific breed should rather be a benchmark of whether or not the bull is better or worse than the average animal in that breed for a specific trait, such as wean direct. It is important for commercial farmers to be aware of this so they do not make this mistake regarding different breeds.
Breeding valuesThere is good news for commercial beef producers who are familiar with indices. Breeding value indices also appear on some of the breeds auction catalogues and can be interpreted as normal indices, such as phenotypic wean indices.
A breeding value index of 100 means the animal is average for a specific trait within the whole breed and not just within his contemporary group. The same principle applies for an animal with a breeding value index above 100, which will be genetically better than the average animal in the breed for a specific trait.
Obviously, the commercial breeder will focus more on growth traits because this is of more economic value to him/her, but the stud breeder can also ensure that other traits of importance are captured in young potential breeding animals, which will ultimately be to the benefit of the commercial breeder. Reproduction, the most important trait when it comes to genetic selection, should already be captured in the young bulls genetic ability and be to the benefit of the bull buyer.
If the buyer interprets breeding values correctly, the following selection decisions are possible:
Balanced breeding valuesA bull should breed smaller calves at birth, but not too small! A calf that is too small at birth will also end up as a small, undesirable calf at wean because of the high correlation between birth-, wean- and year-old weights. The ideal bull for replacement heifers will be above breed average for wean direct and maternal traits.
Beef breeders are primarily meat producers, and post-wean growth will always be important, especially to feedlots. It is therefore important for a breeding bull to be at least on breed average for growth traits such as weight at weaning, one year and 18 months.
But be cautious to select for extreme breeding values for post-wean weights. Weight at 18 months is also an indication of mature weight, and if selection on growth is the only priority, the result will be bigger cows with higher maintenance requirements. If a poor or extensive environment cannot support these bigger-framed animals, it will have a negative influence on calving percentage.
The feed-conversion-ratio breeding value is also important for feedlots, and a smaller value or below breed average value is more desirable, as in the case of the phenotypic feed conversion ratio value.
The less feed needed to increase live body weight by 1kg, the more efficient the animal is in a feedlot environment. Feed conversion ratio is a combination of two traits, namely growth rate and feed intake, and is an indication of how efficiently the animal can transform feed into meat.
To improve reproduction or the fertility of your herd, always keep the reproduction statistics of the bulls dam in mind. In addition to this, the scrotal circumference breeding value of the bull has to be on or above breed average.
Email Frans Jordaan at [emailprotected], or Dr Ben Greyling at [emailprotected].
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Genetics-based guidelines to buying a bull at an auction - Farmer's Weekly SA
Recent reports of poliovirus detected in samples from a sewage treatment works in London have rightly generated significant concern among public health agencies and medical staff. The poliovirus detected is what is called vaccine-derived poliovirus this is not wild poliovirus.
There are currently two poliovirus vaccines: the oral poliovirus vaccine (OPV) and the inactivated poliovirus vaccine (IPV). Vaccine-derived poliovirus is linked to the use of the OPV as this vaccine uses weakened poliovirus to produce an immune response.
The weakened poliovirus can still infect people and be shed by the vaccinated person. This can result in the weakened virus spreading from person to person. And in rare cases, this weakened poliovirus can change to a more dangerous strain of the virus that can cause disease.
In areas with high levels of vaccination, the community is protected and the spread of the more dangerous virus is stopped. But in areas with lower vaccination rates, unvaccinated people may be exposed to poliovirus that has originated as a weakened vaccine strain but is now a more dangerous version. This virus is referred to as a vaccine-derived poliovirus.
As the global vaccine initiatives have resulted in the near eradication of poliovirus, the number of cases of vaccine-derived poliovirus has overtaken the number of infections with wildtype poliovirus. In 2021, there were 697 new cases of vaccine derive poliovirus compared with just six cases of wildtype poliovirus, globally.
Vaccination with IPV does not immunise people with an infectious virus. Instead, it uses poliovirus that has been chemically inactivated. This means the virus is unable to infect people, removing the risk of vaccine-derived poliovirus. This vaccine is considered very safe. For this reason, many countries have moved away from using OPV and adopted IPV.
The UK switched from using OPV to IPV in 2004. However, OPV remains an incredibly effective vaccine that has been instrumental in bringing about the near eradication of poliovirus and remains widely used throughout the world.
While there is no risk of vaccine-derived poliovirus infection when using the IPV, the making of IPV does lead to a potential biohazard risk. To make IPV, large volumes of infectious poliovirus must be produced and then inactivated. This large-scale production of poliovirus has inherent risks and any breach of biocontainment in a population with low vaccine coverage can have serious consequences as poliovirus could be reintroduced.
Vaccination strategies with either OPV or IPV, therefore, involve a certain level of risk. In either case, the risk is astonishingly low. However, for some time scientists have been seeking to develop new and safer methods for poliovirus vaccination. One potential candidate for a new poliovirus vaccine is the use of virus-like particles (VLPs).
VLPs are assembled from the proteins that make up the outer shell of the virus, called a capsid. This allows the immune system to react to this empty shell and triggers a protective immune memory response, so the next time the immune system is exposed to a viral capsid (such as in the case of a viral infection), it can generate an effective response that rapidly controls and eliminates the virus.
Because VLPs contain no genetic material from the virus, they are safe to manufacture and use without the risk of spreading the actual disease. This method has already been used very effectively to produce the human papillomavirus vaccine.
A further advantage of using VLP vaccines for a disease such as poliovirus is the potential to produce VLPs in production systems such as yeast. At the University of Leeds, we have shown that yeast can be made to produce poliovirus VLPs and then grown in large quantities.
The production system for these VLPs uses a similar infrastructure to other yeast-based manufacturing, such as the brewing of beer. This means that large quantities of VLPs can be produced quickly and safely in a very cost-effective way.
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Polio: we're developing a safer vaccine that uses no genetic material from the virus - The Conversation
Researchers have found that people whose genes put them at increased risk of dementia can reduce their chances of getting the condition by up to 43% if they follow seven habits for healthy living.
It was already thought that a healthy lifestyle could cut the risk of dementia, but until now it has been less clear if this applied to people with genetic variants that make them more likely to develop the condition.
The World Health Organization (WHO) says dementia is the seventh leading cause of death among all diseases worldwide and is responsible for millions of older people enduring disability and dependency. With the proportion of older people increasing in almost every country, the WHO expects dementia cases to rise to 139 million by 2050.
A study from the American Academy of Neurology investigated whether people with a higher genetic risk could reduce their chances of getting the condition. Researchers followed almost 12,000 people for 30 years and scored them on how closely they followed the American Heart Associations Lifes Simple 7 a list of lifestyle habits linked to good cardiovascular health.
Adopting a healthy lifestyle can help reduce dementia risk, even for people genetically predisposed to develop the condition.
Image: American Heart Association
1. Manage your blood pressure. Keeping your blood pressure within a healthy range reduces the strain on your heart, arteries and kidneys.
2. Control cholesterol. High cholesterol contributes to plaque which can clog arteries and lead to heart disease and stroke.
3. Reduce blood sugar. High levels of blood sugar can damage your heart, kidneys, eyes and nerves.
4. Get active. Theres strong evidence daily physical activity increases the length and quality of your life.
5. Eat better. A healthy diet is one of the best ways to prevent cardiovascular disease.
6. Lose weight. Shedding a few pounds can reduce the burden on your heart, lungs, blood vessels and skeleton.
7. Stop smoking. Smokers have a higher risk of developing a range of serious illnesses including heart disease.
Participants in the dementia study were asked to score themselves on a scale of 0 to 14 depending on how closely they followed all seven healthy habits. Researchers also calculated their genetic risk, based on whether they had variants linked to a higher or lower chance of getting Alzheimers disease, which is a major cause of dementia.
Alzheimers Diesease, a result of rapid ageing that causes dementia, is a growing concern. Dementia, the seventh leading cause of death worldwide, cost the world $1.25 trillion in 2018, and affected about 50 million people in 2019. Without major breakthroughs, the number of people affected will triple by 2050, to 152 million.
To catalyse the fight against Alzheimer's, the World Economic Forum is partnering with the Global CEO Initiative (CEOi) to form a coalition of public and private stakeholders including pharmaceutical manufacturers, biotech companies, governments, international organizations, foundations and research agencies.
The initiative aims to advance pre-clinical research to advance the understanding of the disease, attract more capital by lowering the risks to investment in biomarkers, develop standing clinical trial platforms, and advance healthcare system readiness in the fields of detection, diagnosis, infrastructure and access.
The participants had an average age of 54 when the research started. Around 9,000 had European ancestry and 3,000 African ancestry.
By the end of the study 1,603 people with European ancestry and 631 people with African ancestry had developed dementia. Those with the highest scores for following a healthy lifestyle were much less likely to have dementia, including participants who had genetic variants linked to Alzheimers.
Study author Adrienne Tin, from the University of Mississippi Medical Centre in Jackson, says: The good news is that even for people who are at the highest genetic risk, living this same healthier lifestyle [is likely to] lower risk of dementia.
Alzheimers is among the 10 leading causes of death in the US.
Image: Statista/Alzheimers Association
In those with European ancestry, participants with the highest scores for living healthily were up to 43% less likely to get dementia than those scoring lower. For those with African ancestry, following the healthy habits was linked to a 17% lower risk of developing the condition. But the studys authors say the smaller numbers of people with African heritage taking part means the findings are less certain for this group, so more research is needed.
Dr Rosa Sancho, from Alzheimers Research UK, told The Times: Dementia risk depends on many factors. Some, like our age and genetic make-up, we cannot change, while others like diet and exercise, we can. This study supports the idea that what is good for the heart is also good for the brain.
If adopting these seven healthy habits can reduce the number of people who get dementia, it wont just be individuals who benefit. The World Health Organization says dementia has high global social and economic costs too. Informal carers - including family and friends - spend an average of five hours a day caring for sufferers, and the global financial bill is expected to be more than $2.8 trillion by 2030.
There are many organizations around the world working to help accelerate advances in prevention and treatment of the condition. Davos Alzheimers Collaborative is led by the World Economic Forum and The Global CEO Initiative on Alzheimers Disease and is investing $700 million over six years into drug development and healthcare diagnostics.
Speaking at a meeting of the DAC Learning Laboratory in May 2022, its co-chair, George Vradenburg, highlighted the importance of remembering that Alzheimers can affect anyone, regardless of their economic, racial or geographic status.
We are explicitly global in character. We want to make sure from the very beginning of this effort that we involve low- and middle-income countries and that we pay attention to all societies, all resource settings and all racial and ethnic legacies as we move forward on the path to cure Alzheimers.
Written by
Simon Read, Senior Writer, Formative Content
The views expressed in this article are those of the author alone and not the World Economic Forum.
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7 lifestyle habits which can halve your risk of dementia - World Economic Forum
Quenton Tompkins family tree is deeply rooted in rural McCormick County, South Carolina.
His grandfather was a sharecropper in McCormick. His mother, who turns 88 this month, grew up as the youngest of 24 children. Branches of aunts, uncles, and cousins now stretch from Florida to Chicago.
And although 48-year-old Tompkins has heard plenty of stories, his family holds its secrets, too.
He didnt know until he was an adult that his grandfather died of leukemia. And hes still unsure if his fathers bout with prostate cancer runs in the family. Tompkins mother and her siblings have dealt with a range of health issues, including diabetes, heart attacks, and strokes, but he still doesnt know what killed his grandmother more than 70 years ago.
Those are questions I go through personally, said Tompkins, a lobbyist for the Medical University of South Carolina. Theres another side to knowing where you come from.
Twenty-two years ago, President Bill Clinton announced the completion of a draft version of the Human Genome Project, a breakthrough he described as the language in which God created life. He predicted that scientists, armed with genetic discoveries, would find cures for Alzheimers disease, cancer, Parkinsons disease, and diabetes in the coming years.
Clintons prediction, of course, hasnt yet come to pass. But researchers in Charleston are hopeful that a large genetics research project underway across South Carolina may help scientists address some of the states persistent health disparities, which disproportionately impact its Black residents and regularly rank among the nations worst.
The university health system intends to enroll 100,000 of South Carolinas 5 million residents in genetic testing over the next four years in hopes of better understanding how DNA influences health. Researchers also want to recruit participants who reflect the diversity of the states population.
Its an ambitious goal. With nearly 27% of South Carolina residents identifying as Black or African American, the MUSC genetics research project, called In Our DNA SC, would if successful accomplish something most other genetics research projects have failed to do. Historically, diverse participation in this type of research has been very low.
Theres a trust factor. Its plain and simple, said Tompkins, who is developing an outreach program for the project.
He referenced Henrietta Lacks, a Black woman in Baltimore whose cells were used without her or her familys knowledge for research purposes by doctors at Johns Hopkins University in the 1950s, and the Tuskegee syphilis study, conducted over nearly 40 years starting in the 1930s. Researchers deceived hundreds of Black men enrolled in the study, telling them they were being treated for syphilis when, in fact, they were left untreated, even after penicillin became widely available.
Those are still fresh in many peoples minds, Tompkins said. Weve come a long way from those stories it doesnt dismiss what happened but there are a lot more controls and oversight in place to ward those things off from happening again.
But its not only history feeding this distrust. Bias and racism evident in medicine today contribute to the problem.
Diversity in genetics research is so low that approximately 90% of participants in projects launched since the first sequencing of the human genome have been individuals of European descent or those who identify as white, said Dr. Shoa Clarke, a pediatric cardiologist and geneticist at Stanford University.
These numbers affect real-life health care. Clarke and others published research last year showing that a DNA-based tool used to assess a patients risk of developing high cholesterol works reliably well only when administered to those of Northern European descent. Thats because the tool was developed using information from genetic bio-banks largely made up of DNA from white people. And aside from a large DNA bank compiled by the Department of Veterans Affairs, this is generally the norm.
Human beings, regardless of race, are more than 99% genetically identical, but small variations and mutations passed down through generations can influence health outcomes in huge ways, Clarke explained.
Genetics is not the cause of health disparities, he said. But as we move toward using genetics in clinical settings, its very possible they could create new disparities.
In South Carolina, health disparities between Black and white patients are already acute, said Marvella Ford, a researcher at MUSCs Hollings Cancer Center in Charleston.
South Carolina compared to the rest of the country were usually in the bottom tier, Ford said. The prostate cancer mortality rate in South Carolina, for example, is 2 times higher for Black men than white men, she said.
When you look at most other chronic conditions, she said, you see the same thing.
She called the genetics project at MUSC a great opportunity to open the doors. Even so, the topic of recruiting Black research participants for genetics studies is complex.
Theres debate on how we should be doing this work, said Shawneequa Callier, an attorney and an associate professor of bioethics at George Washington University. Theres just so much diversity in Africa. Its the cradle of humanity.
Men and women transported to Charleston and other American port cities during the transatlantic slave trade came from a wide region of Africa mostly from West Central Africa, but in large numbers from regions farther north, too. Once in America, they were often separated and forced hundreds of miles apart. This explains why someone whose ancestors lived on one of South Carolinas barrier islands may have inherited different genetic variants than someone from a multigenerational Black family inland in McCormick County, just north of Augusta, Georgia.
Thats also why categorizing genetics research participants simply as Black or African American, without more context, may not yield particularly useful research insights, Callier said.
If you dont study the data and study it well, thats a real dereliction of ethical duty, Callier said.
Those who choose to participate in the MUSC project stand to benefit from it directly, its organizers said. After submitting a saliva sample, each participant will receive a report indicating if they have one or more of three genetic conditions that may put them at a higher risk for heart disease and certain cancers such as one of the BRCA mutations linked to breast cancer. If they test positive for one of these conditions, they will be connected at no cost to a genetics counselor, who can assist with information and treatment options related to a patients inherited risks. Participants will also learn where their ancestors likely lived.
The de-identified DNA data will then be used by researchers at MUSC, as well as those at Helix, a private California-based genomics company, which will process the saliva samples and extract the genetic information from each participants sample. Researchers at MUSC and Helix have indicated they hope to use the results to better figure out how DNA affects population health. Heather Woolwine, an MUSC spokesperson, said the project will cost $15 million, some of which will be paid to Helix. Hospital revenue will fund the research, she said.
Tompkins expects to receive a lot of questions about how it all will work. But hes used to questions. He said he encountered much of the same hesitancy when he helped set up MUSC covid testing and vaccine sites across the state. Many people regardless of race worried microchips or tracking technology had been embedded into the covid vaccines, he said.
Tompkins found that the key to persuading residents in rural parts of the state to consider the covid vaccine was to seek out invitations from trusted, local leaders, then set up events with them. South Carolinas covid vaccination rate remains lower than the national average, but Tompkins said some skeptics have been more receptive to MUSCs message because the hospital system has focused on building relationships with organizers outside Charleston. He hopes to use those relationships to spread word about the new genetics research project.
You have to build those relationships and find community champions that can help you open doors and gather people, he said. Then, its about letting them choose.
By Lauren SausserKaiser Health News is a nonprofit news service covering health issues. It is an editorially independent program of the Kaiser Family Foundation, which is not affiliated with Kaiser Permanente.
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Addressing the 'Trust Factor': South Carolina Researchers Tackle Health Disparities Using Genetics - Physician's Weekly
It has been more than two years since the start of the global COVID-19 pandemic. Throughout that time, for some people, the infections became more frequent and hit closer to home. Their friends contracted coronavirus, and sometimes their children, grandparents and most of their co-workers too. It seemed to be only a matter of time before they would contract the virus as well but their luck never ran out it seems as if some people have never been knowingly infected with COVID-19 in over two years even after the wave of infections caused by the highly transmissible omicron variant.
If you ask them the reason, you'll hear all sorts of suppositions. For example, regular long trips on the underground will build up your resistance by repeatedly exposing you to small viral loads.
"This hypothesis falls in the realm of speculation," says Dr. Ulf Dittmer, director of the Institute of Virology at Essen University Hospital in Germany.
Some people not previously infected attribute it to scrupulously following COVID-19 precautions. Others thank their lucky stars for not contracting the virus from a contact person who later tested positive or while they partied at a club. Still, others wonder if they had an asymptomatic infection that wasn't detected, for instance before testing was widely available. Or maybe they did have symptoms but tested negative because the sample was collected improperly or the timing was inopportune.
Scientific attempts at an explanation go deeper, but there's no single definitive answer as to why some people still haven't caught COVID-19. A combination of factors could be the reason.
"A number of hypotheses appear plausible," says Dr. Leif Erik Sander, director of the Department of Infectious Diseases and Respiratory Medicine at Charit University Hospital in Berlin.
First of all, it's important to bear in mind that a significant number of COVID-19 infections go largely or completely unnoticed. In a systematic review and meta-analysis published late last year in the Journal of the American Medical Association (JAMA) Network Open, the authors noted that about 40% of people with a confirmed COVID-19 diagnosis were asymptomatic at the time of the test. The finding was based on 95 international studies involving nearly 30 million people.
The frequency of testing obviously plays a role in detecting infections. If you're not tested regularly, there's a greater chance you won't become aware of a mild or asymptomatic infection.
And your genes can play a role too in whether or not you get COVID-19.
"There are people who, owing to genetic characteristics, can't easily be infected with malaria or HIV (the virus that causes AIDS), for instance. In certain gradations this will also be true of Sars-CoV-2," says Sander, adding that the genetic factors aren't completely understood, however.
As virologist Dittmer explains, human leukocyte antigens (HLA) molecules, which are encoded by a complex of genes, play an important part in the body's immune response to pathogens such as Sars-CoV-2. He adds that a person's blood group, too, not only influences disease severity but perhaps also susceptibility to infection with the virus.
The protection provided by vaccinations is probably often underestimated. Although levels of antibodies in your blood able to bind to and neutralize invading coronaviruses decline some time after injection with a vaccine, "protection nevertheless remains significant for months," Sander says. "That, too, reduces infections."
Immune responses to COVID-19 vaccines vary from person to person. "If the response is especially good, vaccination in combination with a previous infection with one of the four endemic common cold coronaviruses can also play a role," he suggests.
According to Dittmer, a particular subclass of antibodies has been found to provide especially good protection from a novel coronavirus infection. "Measuring them is complicated though, so for the time being no one will know whether they've got these antibodies or not," he says.
The fact that children who get COVID-19 tend to have either no or only mild symptoms is down to their generally having an innate immune response that's stronger than the immune response of adults, according to Sander. It's often "preactivated," so to say.
Another phenomenon worth mentioning is that for a few days after getting an infection, people are typically less susceptible to infection with another pathogen. "This is due in part to interferons, which are defensive proteins in mucous membranes that also reduce susceptibility to Sars-CoV-2 in the event of contact with it in that time window," Sander says.
He also notes that some people's immune system may rid their body of the virus very quickly: "In a Swedish study, researchers detected specific T-cells (a type of white blood cell that's part of the immune system) in people who didn't test positive after contact with infected household members a sign their immune system had indeed engaged Sars-CoV-2 even though an infection or antibodies against the virus weren't always detectable."
So what are we to conclude? If you think you've somehow managed to skirt a COVID-19 infection, you may already have one behind you. Or you may have benefited from certain temporary circumstances, as-yet-unexplained genetic factors and/or dumb luck.
"Just because you haven't had COVID-19 yet doesn't mean you're permanently safe," Sander warns. "A new coronavirus variant, or a different set of circumstances, can totally change that."
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Marine biologists at Scripps Institution of Oceanography at UC San Diego have created a line of sea urchins whose genetic makeup is fully mapped and can be edited to study human disease genes. The creation of these new research model organisms will accelerate the pace of marine biomedical research.
Sea urchins, like fruit flies or lab rats, have been an organism used in research for more than a century. Even before this breakthrough, sea urchins led to the discovery of a protein family known as cyclins that guides division of cells. That knowledge went on to become the basis of current cancer treatments and earned cyclins discoverers a Nobel Prize.
Now Scripps marine biologist Amro Hamdoun and colleagues have taken this research to a new level by developing lines of sea urchins that can be used as genetic models using the gene editing technology known as CRISPR. The modified sea urchins are derived from the fast-growing species, Lytechinus pictus, also known as the painted sea urchin.
The team describes its results June 6 in the journal Development.
Hamdoun said the new sea urchins could serve as a new workhorse organism in marine biomedical research, capable of being cultivated to adulthood in four to six months at room temperature. Presently many species of sea urchins are used around the world to study the developmental origins of diseases, and the effects of pollutants on human and marine health. But few can be grown in the lab and genetically modified like other lab animals. Having this new genetically enabled urchin could dramatically enhance the efficiency, reproducibility, and utility of those studies.
Sea urchins have long been a favorite model organism for marine biologists, but they have been bottlenecked by not having stable genetics, Hamdoun said. This work breaks that final barrier. This genetically enabled urchin will be an important resource for the large community of researchers who use urchins in their labs.
The research was an unexpected silver lining from the COVID pandemic which impacted operations in research labs around the country for more than two years. In the case of Hamdouns lab, team members developed a sense of mission that motivated them to continue with the work.
It gave us something positive to focus on, Hamdoun said. The team spent two years intently focused on solving the barriers to making a genetically enabled sea urchin. Once we figured out how to make the precise modifications we wanted, we next had to figure out how to efficiently culture the urchins and select the modified animals. It is a real testament to the groups dedication that they accomplished this despite the adverse circumstances. I like to think that while many people were home growing cool things like houseplants or sourdough starters, we were also growing something interesting, but it was a biomedical research animal.
Besides Hamdoun, co-authors of the study included Himanshu Vyas, Jose Espinoza, Catherine Schrankel, Kasey Mitchell, Katherine Nesbit, Elliot Jackson, Nathan Chang, Yoon Lee, and Deirdre Lyons of Scripps Oceanography as well as researchers from University of North Carolina Charlotte and Wilmington campuses.
The National Institutes of Health Program on Oceans and Human Health and the National Science Foundation funded the research.
June 8, 2022 | The pioneering OneK1K study in Australia has identified an immune fingerprint of seven autoimmune disorders using single-cell RNA sequencing (scRNA-seq). The general framework, which combines the scRNA-seq data with genotype data to classify individual cells, can be applied to many different diseases, including other autoimmune disorders, cardiovascular diseases, neuroinflammatory conditions, and cancer where the immune system is thought to play a role, according to Joseph Powell, director of cellular science at the Garvan Institute of Medical Research.
Selection of the original seven diseasesmultiple sclerosis, rheumatoid arthritis, lupus, type 1 diabetes, spondylitis, inflammatory bowel disease, and Crohns diseasewere based on their prevalence in the world of autoimmune diseases and high genetic component, he says. The study relied on scRNA-seq data from 1.27 million peripheral blood mononuclear cells collected from 982 healthy donors, many of whom carry the genetic loci found in people who have these diseases.
Take Crohns disease, which has molecular markers found on roughly 190 positions in the genome, Powell cites as an example. On average, patients collectively have roughly 90 risk alleles at those loci, but individually about 60. It is the difference between having 60 and 90 that takes you over the threshold and leads to occurrences of disease.
This phenomenon holds true for most every disease afflicting humans, which is why a big population group is ideal for gaining mechanistic insights on disease-associated genes, he continues. At the cellular level, genome regulation changes brought on by those genes are the same even if there is no clinical manifestation of disease.
Using a Mendelian randomization approach, Powell and his colleagues uncovered the causal route by which 305 loci contribute to autoimmune disease through changes in gene expression in specific cell types and subsetsand that these genetic mechanisms are the same for healthy individuals as in autoimmune disease cohorts. Results published recently in Science (DOI: 10.1126/science.abf30).
Single-cell RNA sequencing was used to look at genetic variants affecting gene expression in 14 different immune cell types, says Powell. It is the largest study to date linking disease-causing genes to specific types of immune cells.
Researchers developed a classification method based on the transcriptomic signature found in individual cells and aligned it back to what is currently understood about more common immune cell types at the top of the hierarchy (e.g., T cells, CD4, CD8, nave to memory B cells). Although 68 immune cells have been classified, they focused on those they were sure to find enough copies of across the OneK1K cohort to confidently link the genetic differences between people to the signatures in the cells.
Tissue-To-Tissue Variability
Powell says he has been interested in genetic control of gene expression, and its contribution to disease, for more than a decade now. For many years, this involved bulk RNA analysis that produces an average signal.
An important clue emerged when researchers began seeing how vastly different the genetics worked in one tissue versus another, he says. Only a few years ago, the Genotype-Tissue Expression Program (GTEx) of the National Institutes of Health examined RNA sequencing samples from 49 tissues of postmortem donors to characterize genetic associations for gene expression and found regulatory associations for almost all genes. Cell type composition was identified as a key factor in understanding gene regulatory mechanisms.
That study showed instances where genetic effects were seen in one tissue and not another, or generated completely different effects, Powell notes. It was published in 2020 when scRNA-sequencing was just emerging as a staple technologyand Powell had just started his computational genomics laboratory at the Garvan Institute.
We were stuck with this interesting question: If we see these differences between tissues, and know the tissues are comprised of really distinct cell types with really specific functional roles, and the transcriptomic cell signatures are different, can we try to create a system to undo the genetics we saw in tissue inside a cell? That led Powell and his colleagues to scale up their scRNA-sequencing efforts.
At the time, the vast amount of generated transcript data generated from 1,000 individuals would have made scRNA-sequence data entirely cost-prohibitive to generate. But Powell helped pioneer a biometric technique to pool cells from multiple samples, as well as a method to analyze the transcripts of individual cells that solved the challenge of determining what portion of them would provide the most useful information in defining a cell type.
Up until then, a few other groups had published studies using samples from perhaps 50 or 100 individuals suggesting signatures of disease, but they were all under-powered, says Powell. They could show genetic differences between cells, but they were all too under-powered to link them to disease, or to resolve why there were differences between cells.
Statistically speaking, disease fingerprints that capture the genetic heterogeneity of patients will never be fully defined, says Powell. But the OneK1K study has probably moved the needle from the 10th percentile to the 50th percentile on the saturation curve.
Powell is now aiming for the 95th percentile with a TenK10K study that will be seeking to enroll 10,000 individuals and generate single cell data on about 50 million cells. The multi-year initiative will involve partnerships with multiple hospitals across Australia, and both a healthy population group and patients newly diagnosed with autoimmune disorders, cardiovascular disease, and cancer.
Autoimmune diseases affect about one in 12 Australians, he notes. They are incurable and require lifelong treatments to minimize the damage. Patients often try many different treatments before finding one that works for them.
The genetic mechanisms are actually really generic, he says. You can learn a lot by linking what we see in [OneK1K study] data to what already know just about genetic positions in disease. Now, were taking those genetic positions from genome-wide association studies and will show mechanisms of action and specifically the cell types they are acting in.
Pure fundamental science is a major driver for the work, says Powell, knowledge creation for human disease... and making all the data publicly available. Since the Science paper published in April, he has been fielding multiple data requests daily.
The more translational outcome is the possibility that the catalogue of genetic mechanisms will be useful in predicting which treatments will work best for individual patients, Powell says. To test that hypothesis, Powells lab is in the process of conducting a series of retrospective and prospective signal-seeking studies using currently marketed drugsstarting with immunotherapy treatment of cancer.
If successful, patients will one day be able to get a very cheap test costing literally tens of dollars [in Australia anyway] to guide the clinical decision-making of their treating physician, Powell says. We think that across a population we will be able to move the efficacy of a drug from, say, 30%which is pretty common for immunotherapy and a lot of inhibitory drugs in autoimmune diseaseto 50% or 60%. Even a 10-percentile gain for a single drug would be remarkable in terms of patient impact, he adds.
Along the way, the molecular mechanisms of disease are being unearthed at the cellular RNA level and that data could be shared with pharmaceutical companies to inform their early-stage drug development work, including which targets to take forward to phase 1 clinical trials, says Powell. Already, four pharma companies and one biotech have approached him about just such partnering opportunity, which would additionally aid them in the selection of patient groups for treatment trials.
Scientific strides have been a team effort by many committed individuals, he says, crediting the 16 co-authors on the latest study hailing from Sydney, Hobart, Melbourne, Brisbane, and San Francisco. They consider themselves part of the larger, decade-long movement toward open science, marked by transparency, open communication, and access to the data and computer code used to reach conclusions.
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Genetic Control Of Autoimmune Disease Mapped To Cellular Level - Bio-IT World
COLUMBIA, Md., June 07, 2022 (GLOBE NEWSWIRE) -- Neon Bloom, Inc. (OTC: NBCO): Bazelet Health Systems, a wholly owned subsidiary of Neon Bloom, is proud to announce the endowment of a program known as cERI (cannabis Education & Research Initiative). The program encompasses the donation by Bazelet of federally legal cannabis genetics (genetically producing 0% THC) to DEA registered research entities, such as the National Center for the Development of Natural Products at the University of Mississippi and the broader qualified scientific community wishing to conduct, disseminate and support rigorous scientific research on the clinical effects of cannabis. The companys genetics are patented, compliant with the Controlled Substances Act (CSA) and are now available to all to conduct research with our genetics.
Global scientific research of the Cannabis Sativa L. plant has been illegal because of the Controlled Substance Act (CSA). The CSA has created a decades-long pent-up demand for the scientific research of the cannabis plant by qualified research entities. In 2016, the DEAannouncedthat it was amending its longstanding policies to allow additional parties to grow cannabis for clinical research purposes. Since that time, it amended its regulations in 2020 (which became effective in January 2021) to facilitate the cultivation of marihuana for research purposes and other licit purposes to enhance compliance with the Controlled Substances Act, including registering cultivators consistent with treaty obligations but has not legalized cannabis research. In fact, to date, the DEA has only acknowledged providing a MOA (Memorandum of Agreement) to just a handful of applicants to work together to facilitate the production, storage, packaging, and distribution of marijuana. (www.dea.gov). Meanwhile, human health and the global scientific community standby helpless, until now. Our genetic library of non-GMO, patented Cannabis Sativa L. plants offers access to cannabinoids such as Cannabigerol (CBG) with no existing THC or CBD, said Dr. Francisco Ward, NBPAS-PM&R/PM, Chief Medical Officer for Bazelet which makes us a prime candidate for research endeavors.
Having been involved with the DEA regarding its amendment to facilitate the cultivation of marihuana for research purposes and other licit purposes to enhance compliance with the Controlled Substances Act, I recognize and appreciate the DEAs unique implementation challenges. I am certain our patented cannabis plants and robust plant science program can immediately deliver value to their program, their researchers, and manufacturers. For decades worldwide, cannabis plants have been almost exclusively bred to yield higher and higher concentrations of Tetrahydrocannabinol (THC) which has fueled a multi-billion recreational and high THC medical marijuana industry. This breeding habit has caused the abandonment, if you will, of hundreds of compounds in the cannabis plant to the detriment of human health, scientific study, and federal law. We have developed an unprecedented plant genetic platform for the DEA that begins with registered, US plant patent approved, Cannabis Sativa L. plants as its foundation. Our unique genetic program will allow DEA registered research entities to unlock untold scientific and human health outcomes by accessing a full array of cannabinoids and compounds found in the Cannabis Sativa L. plant, such as Cannabigerol (CBG). Our program allows the DEA from here forward, the development of world-class cannabis genetics that began with registered, US patented cannabis genetics, says Michael Elzufon, CEO of the Bazelet Health Systems.
Through our cannabis Education & Research Initiative (cERI), we are opening our genetic library to DEA registered research entities, encouraging their rigorous scientific and medical research projects with federally legal cannabis products. With the DEA slow in issuing bulk manufacturer registrations, research projects remain on hold and our patented, federally compliant cannabis genetics are an immediate solution, said Dr. Ward. He added, I look forward to collaborating with colleagues, scientists, DEA bulk manufacturer applicants and patients everywhere, to study, innovate and access the potential of this plant in the areas of neurodegenerative diseases, auto-immune diseases, vascular diseases, psychiatric diseases such as addiction, delusional states, and PTSD.
About Neon Bloom: Neon Bloom, Inc. (OTC: NBCO), doing business as Bazelet Health Systems, Inc. ("Bazelet"), holds the exclusive license to grow in the United States a patented zero-THC, high CBG Cannabis sativa L plant which received United States Patent No. PP32,725 on January 5, 2021. The patented plant, which was named PAN2020, is remarkably high in Cannabigerol (CBG) with undetectable levels (zero percent) of both Cannabidiol (CBD) and Tetrahydrocannabinol (THC). Consistent with the company's mantra to create zero-THC products (the company's Cannabis-ZERO platform), Bazelet is actively developing non-GMO cannabis Sativa plants that produce zero-THC while being rich in CBG and other valuable cannabinoids. Bazelet is a wholly owned subsidiary of the public company that manufactures and markets PECSA, a patent-pending, proprietary full extract of the PAN2020 plant with other added proprietary ingredients. PECSA stands for Plant-based EndoCannabinoid System Activator. The EndoCannabinoid System is the premier regulatory center of the body affecting mental abilities, emotions, pain, inflammation, ne and metabolic functions with receptors found primarily in the brain and immune cells. The company's primary focus is to sell and market PECSA as a non-GMO, plant-based ingredient for the global food, drug, cosmetic, and tobacco industries. To meet the anticipated worldwide demand for PECSA, Bazelet has established a vertically integrated supply chain providing operational control from patented cannabis plants to proprietary patented plant processing to GMP-produced finished products, all with traceability from seed to sale. Bazelet grows patented plants in North America, Europe, South America, and the Middle East coming online in 2023. Processing and distribution facilities are located in the U.S. and Europe.
Disclaimer:This Press Release is for informational purposes, contains forward-looking statements based on current expectations, forecasts, and assumptions with information available to us as of the date hereof, and involves risks and uncertainties. This Press Release does not constitute an offer to sell or a solicitation of offers to buy any securities of any entity. Actual results may differ materially from those implied in forward-looking statements. Forward-looking statements include statements regarding our expectations, beliefs, intentions, or strategies regarding the future and can be identified by forward-looking words such as "anticipate," "believe," "could," "estimate," "expect," "intend," "may," "should," "would" or similar words. We assume no obligation to update the information included in this Press Release, whether from new information, future events, or otherwise.
CONTACT: Dr. Mat BlantonEMAIL: media@bazelethealth.comWEBSITE: http://www.bazelethealth.com
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Bazelet to Supply Its Federally Legal Cannabis Genetics to DEA Approved Research Entities for Rigorous Scientific Research on the Clinical Effects of...