Category Archives: Transhuman News

The National Institute of Allergy and Infectious Diseases (NIAID) has launched efforts to create a vaccine that would protect people from most flu strains, all at once, with a single shot.

Over the years, Ive written many articles refuting claims that vaccines are safe and effective, but well put all that aside for the moment and follow the bouncing ball.

Massachusetts Senator and big spender, Ed Markey, has introduced a bill that would shovel no less than a billion dollars toward the universal flu-vaccine project.

Here is a sentence from an NIAID press release that mentions one of several research approaches:

NIAID Vaccine Research Center scientists have initiated Phase 1/2 studies of a universal flu vaccine strategy that includes an investigational DNA-based vaccine (called a DNA prime)

This is quite troubling, if you know what the phrase DNA vaccine means. It refers to what the experts are touting as the next generation of immunizations.

Instead of injecting a piece of a virus into a person, in order to stimulate the immune system, synthesized genes would be shot into the body. This isnt traditional vaccination anymore. Its gene therapy.

In any such method, where genes are edited, deleted, added, no matter what the pros say, there are always unintended consequences, to use their polite phrase. The ripple effects scramble the genetic structure in numerous unknown ways.

Here is the inconvenient truth about DNA vaccines

They will permanently alter your DNA.

The reference is the New York Times, 3/15/15, Protection Without a Vaccine. It describes the frontier of researchthe use of synthetic genes to protect against disease, while changing the genetic makeup of humans. This is not science fiction:

By delivering synthetic genes into the muscles of the [experimental] monkeys, the scientists are essentially re-engineering the animals to resist disease.

The skys the limit, said Michael Farzan, an immunologist at Scripps and lead author of the new study.

The first human trial based on this strategy called immunoprophylaxis by gene transfer, or I.G.T. is underway, and several new ones are planned. [That was three years ago.]

I.G.T. is altogether different from traditional vaccination. It is instead a form of gene therapy. Scientists isolate the genes that produce powerful antibodies against certain diseases and then synthesize artificial versions. The genes are placed into viruses and injected into human tissue, usually muscle.

Here is the punchline:

The viruses invade human cells with their DNA payloads, and the synthetic gene is incorporated into the recipients own DNA. If all goes well, the new genes instruct the cells to begin manufacturing powerful antibodies.

Read that again: the synthetic gene is incorporated into the recipients own DNA.

Alteration of the human genetic makeup.

Not just a visit. Permanent residence. And once a persons DNA is changed, he will live with that changeand all the ripple effects in his genetic makeupfor the rest of his life.

The Times article taps Dr. David Baltimore for an opinion:

Still, Dr. Baltimore says that he envisions that some people might be leery of a vaccination strategy that means altering their own DNA, even if it prevents a potentially fatal disease.

Yes, some people might be leery. If they have two or three working brain cells.

This is genetic roulette with a loaded gun. Anyone and everyone on Earth injected with a DNA vaccine will undergo permanent and unknown genetic changes

And the further implications are clear. Vaccines can be used as a cover for the injections of any and all genes, whose actual purpose is re-engineering humans in far-reaching ways.

The emergence of this Frankenstein technology is paralleled by a shrill push to mandate vaccines, across the board, for both children and adults. The pressure and propaganda are planet-wide.

The freedom and the right to refuse vaccines has always been vital. It is more vital than ever now.

It means the right to preserve your inherent DNA.

Posted with permission by World Mercury Project

Original post:
Altering Human Genetics Through Vaccination

The University of Michigan Genetic Counseling Programis one of the most well established programs in the country and exemplifies our long history of innovation in clinical service and education in genetics and genomics. Michigan graduates emerge as extremely well rounded genetic counselors, who are ready to meet the current challenges in clinical genomic medicine and are able to help guide the evolving practice of genetic counseling and genomic medicine.

The vision of the University of Michigan Genetic Counseling Program is to train genetic counselors that are able to meet the current challenges and to help shape the future of genetic counseling and genomic medicine.

Our mission is to provide an individualized, integrated and supportive graduate training environment comprised of:

Most importantly, our graduate training program is responsive to the interests and unique needs of individual students.

Contact us at UMGenetics@med.umich.edu.

Follow us on Instagram! @umgcp

The University of Michigan Masters in Genetic Counseling program is accredited by the Accreditation Council for Genetic Counseling (ACGC), located at 7918 Jones Branch Drive, Suite 300, McLean, VA 22102 USA, web addresswww.gceducation.org. ACGC can be reached by phone at 913.222.8668.Pleaseclick herefor more information regarding professional licensure.

View post:
Genetic Counseling Program | Human Genetics | Michigan ...

Media Contacts Julie Kiefer

Associate Director, Science Communications, University of Utah HealthEmail: julie.kiefer@hsc.utah.eduPhone: 801-587-1293

Nov 08, 2021 7:00 AM

Understanding geographic distribution, ancestry of disease could help identify people who are at risk.

(Salt Lake City) - University of Utah Health scientists have documented the spread of a disease gene across continents and over centuries. The genetic mutation causes a heart arrhythmia, known as atrial fibrillation (AF), that manifests in early adulthood and leads to fatigue, stroke, and increased risk of early death.

It is important to identify carriers of this genetic legacy, the authors say, since these individuals often dont know theyre at risk until they have a medical episode that can be serious. The study reports that an algorithm that combines genetic and genealogic data can be used to predict who will develop the disease and who wont. The approach could one day flag susceptible individuals so they can receive appropriate surveillance and treatment to prevent atrial fibrillation and its consequences.

This first-of-its-kind study shows the power of merging human genetics and human history, says the studys senior author Martin Tristani-Firouzi, M.D., a pediatric cardiologist at U of U Health and Intermountain Primary Childrens Hospital and scientist at the Nora Eccles Harrison Cardiovascular Research and Training Institute.

The research was conducted in collaboration with scientists at AncestryDNA, Intermountain Medical Center and Medical College of Wisconsin, and published in Nature Communications.

The unique partnership between U of U Health and AncestryDNA has broadened our understanding of human disease into a historical context, one that includes the history of our ancestral origins and population movement across time and continents, says genetics expert Lynn Jorde, Ph.D., chair of the Department of Human Genetics at U of U Health, who was not a co-author of the study.

Understanding the Past to Benefit the Future

The study estimates that around 5,000 years ago during the Bronze Age, a person born in what is now Northern Europe spontaneously developed a genetic mutation that causes young-onset AF. The mutation was passed on from one generation to the next, and as these descendants migrated across continents, the disease gene came with them. Using ancestral birth records, the scientists showed that descendants migrated from Denmark to the eastern U.S. 300 years ago, over time moving westward along Mormon migration routes to the Mountain West.

Though the mutation came from Europe, the scientific story began in Utah, when investigators at U of U Health were searching for families with high-risk AF. By overlaying medical records with genealogies, they found AF was prevalent in a Utah family they could trace for eight generations, to nearly 3,000 family members. By sequencing and analyzing DNA from present-day members, they found the cause of the disease that had plagued their ancestors for 182 generations: a dominant mutation in KCNQ1, an ion channel gene that is essential for maintaining the hearts rhythm.

This first-of-its-kind study shows the power of merging human genetics and human history.

To characterize the mutation further, the scientists transformed family members blood cells, which are much easier to access than cells from the heart, into cardiac muscle cells in the lab. The heart cells from carriers of the mutation displayed an abnormally fast rate of re-charging (repolarization), explaining the familys susceptibility to early onset AF.

With that information in hand, the scientists could focus on determining how to identify individuals living today who are at risk for AF. They developed and validated an algorithm that tracks large, shared segments of chromosomes between individuals, using it to mine a large genealogic database for people who are relatives of known carriers and likely carry the disease-causing mutation. These computational approaches allow us to determine geographic distributions of disease and potentially narrow down the individuals at highest risk for disease, Tristani-Firouzi says. This could help focus public health initiatives to the people who need it most.

# # #

The research was supported by the Utah Genome Project and Nora Eccles Treadwell Foundation and published as The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.

Competing interest statement: Five of the studys co-authors are equity holders and/or former employees of AncestryDNA.

In addition to Tristani-Firouzi, co-authors from U of U Health are Angelica Lopez-Izquierdo, Chuanchau J. Jou, Scott Cho, Colin T. Maguire, Natalia Torres, Neil E. Bowles, Cammon B. Arrington, Brett J. Kennedy, Susan P. Etheridge, Chase Pribble, Lindsay Meyers, Derek Lundahl, Christopher A. Kauffman , Gordon Lemmon, Steven Boyden, W. Scott Watkins, Mary Anne Karren, Kushi Shah, Mark Yandell.

Research News genomics cardiology

Continued here:
Study Follows Human History and Migration of Disease - University of Utah Health Care

Recent technological breakthroughs in genomic analysis, combined with archeological, paleoanthropological, linguistic and other information, now give us an unparalleled opportunity to trace humanitys evolution and movement in time how we developed, differentiated and interbred many times, and arrived at our present planet-wide population.

Until recently, the leading theory of human population descent, known as the serial founder model, envisioned modern humans expanding out of Africa and the Near East around 50,000 years ago and leaving descendent populations along their routes of migration. The settlements of these groups were thought to remain unmixed for tens of thousands of years, and consequently were classified according to location, superficial appearance and culture as East Asians, Caucasians, West Africans, Native Americans and Australasians.

We now know, thanks to studies of ancient DNA (aDNA), that the serial founder model is wrong. It turns out that present-day populations are actually mixtures of highly divergent populations that no longer exist. Nor are present-day populations, thanks to perennial migration and mixing, exclusive descendants of the populations that lived in the same locations ten thousand years ago.

DNA is a double helix formed by base pairs attached to a sugar-phosphate backbone. (US National Library of Medicine)

The announcement of evolutionary trees based on variation in mitochondrial DNA in a 1987 edition of Nature, followed by a study on evolution of the human Y chromosome a few years later, staggered the world. From the pattern created by the random genetic variations on both of these lineages, geneticists can conclude facts rather than suppositions and can of course construct family trees for everyone alive today.

DNA molecules make up the human genome, the genetic code that each of us inherits from our parents. DNA consists of twin chains of molecules callednucleotidesmade from the chemicals adenine (A), cytosine (C), guanine (G) and thymine (T). Each chain, broken up into 23 chromosomes, adds up to about three billion chemical blocks in length. Genesare fragments of these chains, generally around a thousand nucleotides long, each one telling something about how the body is built.

All humanity descended from a single female ancestor and her birthplace was Africa.

Each time egg and sperm are created, the approximately 3 billion base pairs of DNA comprising our genes are copied. Random variations in these inherited sequences are calledmutations or markers. They are what make us individual, and they are also the means by which individual ancestry can be determined. Since these changes occur at a known constant rateover time roughly once every thousand nucleotides the greater number of differences between two peoples mutations, the further they are away from sharing a common ancestor.

All living men are related through a single male ancestor who lived 60,000100,000 years ago.

Mitochondrial DNA (mtDNA) is inherited only through the maternal line in humans. This knowledge enabled geneticists to demonstrate that all humanity descended from a single female ancestor, now known as Mitochondrial Eve, and established that her birthplace, and that of all humanity, was Africa.

All male mammals have one Ychromosome that contains a gene called SRY, which triggers the development of a male. The Y chromosome is passed down essentially unchanged from one generation to the next; in other words, theY chromosomeDNA of all living men is related through a single male ancestor who lived 60,000100,000 years ago. This discovery enabled population geneticists to trace human ancestries through the pattern of mutations or markers carried on the male Ychromosome.

Go here to see the original:
Genetics and Evolution - The Human Journey

SUNNYVALE, Calif., Nov. 9, 2021 /PRNewswire/ -- 23andMe Holding Co. (Nasdaq: ME) ("23andMe"), a leading consumer genetics and research company, today announced the appointment of Dr. Sandra Hernndez, President & CEO of the California Health Care Foundation ("CHCF"), to its Board of Directors.

23andMe Logo

"Dr. Hernndez is a passionate advocate for improving today's healthcare system by enabling anyone, including those in underserved communities, to get access to the care they need," said Anne Wojcicki, CEO, and Co-Founder of 23andMe. "Leveraging her incredible expertise, Dr. Hernndez will play an important role as 23andMe rolls out a new digital primary care experience that delivers personalized, preventative care to individuals in an affordable and accessible way."

As the President & CEO of CHCF, an independent, nonprofit philanthropy dedicated to improving California's healthcare system, particularly for those with low incomes, Dr. Hernndez has been a leading figure in improving access to coverage and advocating for better care. Prior to joining CHCF, Dr. Hernndez was CEO of The San Francisco Foundation, one of the nation's largest community foundations, which she led for 16 years. She previously served for nearly a decade in the San Francisco Department of Public Health, including several years as Director of Public Health for the City and County of San Francisco.

"As a mission-driven company focused on empowering individuals with direct access to their genetic health information, 23andMe has the potential to help create a truly personalized approach to healthcare," said Dr. Sandra Hernndez, President & CEO of CHCF. "I look forward to joining the 23andMe Board as the company works to make a new individualized primary care experience more accessible to everyone."

Dr. Hernndez served as an assistant clinical professor at the University of California, San Francisco, School of Medicine and currently serves as a leadership council member of the UCSF Institute for Global Health Sciences. She practiced at San Francisco General Hospital in the AIDS clinic from 1984 to 2016. She is a graduate of Yale University, the Tufts School of Medicine, and the certificate program for senior executives in state and local government at Harvard University's John F. Kennedy School of Government.

Story continues

About 23andMe23andMe, headquartered in Sunnyvale, CA, is a leading consumer genetics and research company. Founded in 2006, the company's mission is to help people access, understand, and benefit from the human genome. 23andMe has pioneered direct access to genetic information as the only company with multiple FDA authorizations for genetic health risk reports. The company has created the world's largest crowdsourced platform for genetic research, with 80 percent of its customers electing to participate. The 23andMe research platform has generated more than 180 publications on the genetic underpinnings of a wide range of diseases, conditions, and traits. The platform also powers the 23andMe Therapeutics group, currently pursuing drug discovery programs rooted in human genetics across a spectrum of disease areas, including oncology, respiratory, and cardiovascular diseases, in addition to other therapeutic areas. More information is available at http://www.23andMe.com

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E of the Securities Exchange Act of 1934, as amended, including statements regarding the future performance of 23andMe's businesses in consumer genetics and therapeutics and the growth and potential of its proprietary research platform. All statements, other than statements of historical fact, included or incorporated in this press release, including statements regarding 23andMe's strategy, financial position, funding for continued operations, cash reserves, projected costs, plans, and objectives of management, are forward-looking statements. The words "believes," "anticipates," "estimates," "plans," "expects," "intends," "may," "could," "should," "potential," "likely," "projects," "continue," "will," "schedule," and "would" or, in each case, their negative or other variations or comparable terminology, are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. These forward-looking statements are predictions based on 23andMe's current expectations and projections about future events and various assumptions. 23andMe cannot guarantee that it will actually achieve the plans, intentions, or expectations disclosed in its forward-looking statements and you should not place undue reliance on 23andMe's forward-looking statements. These forward-looking statements involve a number of risks, uncertainties (many of which are beyond the control of 23andMe), or other assumptions that may cause actual results or performance to be materially different from those expressed or implied by these forward-looking statements. The forward-looking statements contained herein are also 8-K filed with the Securities and Exchange Commission ("SEC") on June 21, 2021 and in 23andMe's Current Report on Form 10-Q filed with the SEC on August 13, 2021, as well as other filings made by 23andMe with the SEC from time to time. Investors are cautioned not to place undue reliance on any such forward-looking statements, which speak only as of the date they are made. Except as required by law, 23andMe does not undertake any obligation to update or revise any forward-looking statements whether as a result of new information, future events, or otherwise.

Cision

View original content to download multimedia:https://www.prnewswire.com/news-releases/23andme-announces-appointment-of-dr-sandra-hernandez-to-board-of-directors-301419811.html

SOURCE 23andMe Holding Co.

Read this article:
23andMe Announces Appointment of Dr. Sandra Hernndez to Board of Directors - Yahoo Finance

Penn Medicine: $9.5 Million Grant from Warren Alpert Foundation to Increase Diversity in Genetic Counseling Programs

Penn Medicine has been awarded a $9.5 million grant from the Warren Alpert Foundation to continue its efforts to increase diversity in genetic counseling, a field that, despite impressive leaps forward in genetic knowledge, lacks a diverse workforce. The Alliance to Increase Diversity in Genetic Counseling grant will support 40 underrepresented students in five genetic counseling programs in the northeastern U.S. over five years to expand all dimensions of diversity. The Perelman School of Medicine at the University of Pennsylvanias master of science in genetic counseling program will lead this effort, joined by participating genetic counseling masters degree programs at Boston University School of Medicine; Rutgers University, the State University of New Jersey; Sarah Lawrence College; and the University of Maryland School of Medicine. Ten students will be selected yearly to receive full tuition support and a cost of living stipend.

The University of Pennsylvanias master of science in genetic counseling program (MSGC) and the collaborative programs are committed to increasing diversity and inclusion in the genetic counseling field and encouraging post-graduate training and career advancement opportunities for genetic counselors. Previous philanthropic gifts to the MSGC program have supported a robust summer internship for undergraduates who are underrepresented in genetic counseling, which, in its first year, led to several rising juniors and seniors learning about the field and considering applying to the program. The Class of 2023 is Penn MSGCs most diverse ever, with 35% of students from underrepresented backgrounds.

We are honored to receive this grant from the Warren Alpert Foundation to continue to expand diversity and inclusion in genetic counseling while growing the overall genetic counseling workforce, said Daniel J. Rader, chair of the department of genetics in the Perelman School of Medicine and chief of the divisions of human genetics at Penn and Childrens Hospital of Philadelphia. The foundation is extraordinarily forward-thinking in making this generous funding available to address a critical need as the implementation of genomic medicine continues to rapidly expand.

On the 50th anniversary of genetic counseling being established as a field, we celebrate the first time an alliance of genetic counseling programs has collaborated to increase diversity and inclusion with scholarships, post-graduate training, and career advancements for genetic counselors, said Kathleen Valverde, program director of the Penn MSGC.

A key rationale for increasing diversity in the genetic counseling workforce is to improve support for patients from underrepresented backgrounds. The field is currently comprised of 95 percent white women. Therefore, underrepresentation of genetic counselors from diverse backgrounds can strain critical dialogue between genetic counselors and patients, whose health outcomes are often improved through interaction with medical professionals they can relate to more personally. Unless genetic counseling becomes more accessible, existing disparities will be exacerbated. Addressing this issue will require integrated strategies, including expanding genetic research, improving genetic literacy, and enhancing access to genetic technologies and genetic counseling among underrepresented populations in a way that avoids stigmatization and other harms.

Supporting innovative organizations dedicated to understanding and curing disease through groundbreaking research, scholarship, and service is why we are delighted to award Penn with this generous grant from the Warren Alpert Foundation, said August Schiesser, executive director of the Warren Alpert Foundation. Recruiting and training underrepresented individuals in genetic counseling will increase the numbers of professionals in the field, leading to an increase in access to community-based genetic education and genetic counseling services delivered by individuals who reflect different populations.

The Penn MSGC program leadership brings extensive experience in genetic counseling education and, with this grant, it will expand its reach to diverse students preparing them to be successful professionals who will advance the field of genetic counseling, said Emma Meagher, a professor of medicine and pharmacology, chief clinical research officer and associate dean of master and certificate programs in the Perelman School of Medicine.

Interested applicants for Penn can visit https://www.med.upenn.edu/geneticcounseling for more information. Penns application deadline is January 5, 2022, with deadlines for Boston University School of Medicine, Rutgers University, Sarah Lawrence College, and the University of Maryland School of Medicine ranging across December 2021 and January 2022. Ten students will be selected yearly to receive full tuition support and a cost of living stipend.

See the original post:
Penn Medicine: $9.5 Million Grant from Warren Alpert Foundation to Increase Diversity in Genetic Counseling Programs - UPENN Almanac

Newswise By comparing genetic data from European and African population groups, scientists atUChicago Medicine Comprehensive Cancer Centerhave identified seven new regions of the human genome that are associated with increased breast cancer risk.

In addition to laying a foundation for better risk modeling and more accurate genetic screening for cancer, the study highlights the importance of studying diverse patient populations, researchers said. The findings would not have been possible without incorporating data from African-American, Afro-Carribean and African women, saidDezheng Huo, PhD, Professor of Public Health Sciences and Medicine at UChicago Medicine.

Previous studies mainly looked at European populations, and they missed this, said Huo. We just added a relatively small sample size of African-ancestry populations, and we found the locations.

Although including women of African ancestry led to the discovery, the findings apply to women of both backgrounds, he noted.

The findings were published in July 2021 inNature Communications.

For the new study, researchers analyzed genome-wide association studies (GWAS) of both European-ancestry and African-ancestry women. Each study compared genome scans of women with breast cancer and women who were healthy, with a goal of identifying genetic variants or mutations that may play a role in cancer.

The European study was large, with genetic data from more than 220,000 women. However, it was not until researchers compared it with a smaller data set of around 19,000 women of African ancestry that they identified seven regions on the genome that had previously been overlooked for cancer risk.

Previous studies missed the variants because they have weaker effects in women of European ancestry, Huo said.

Once the variants were identified in the African-ancestry population, researchers were also able to find them in the European-ancestry group and show that they were associated with breast cancer risk in that population as well.

There are some variants that you can easily pick up in one population and not in other populations where the signal is weaker, Huo said. But once you pick it up, you find it doesnt just apply to that group.

Previous studies have identified genes associated with increased breast cancer risk, includingBRCA1andBRCA2. However, these two genes only account for a small proportion of cancers, and research is ongoing to identify more genetic risk factors. Most cancers, including breast cancer, are complex diseases driven by a combination of many gene mutations.

The seven regions identified by the study give scientists a map to narrow down the search for more genes that are part of the puzzle, Huo said.

As a next step, Huo and his team are working to use the newly discovered genetic markers to develop polygenic risk score models, research that could help make cancer risk assessments more accurate.

They also want to work with colleagues conducting laboratory studies to look closer at the genetic regions they found and try to identify the specific genes or mutations associated with cancer risk, as well as to better understand how they contribute to the development of cancer.

In addition to potential clinical applications, the study also points to the importance of diversity in genetic research, Huo said. For better data, future cancer research should include a variety of racial groups, including people of African, Asian, Hispanic and Native American ancestry, he added.

People of European ancestry are over-represented in medical research, Huo noted. Thats partly because they make up a larger share of the United States population, and may also be related to lower levels of trust for the healthcare system among some groups, he said.

Without their inclusion in studies, we cannot discover this new knowledge, he said.

The study, Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women, was published inNature Communications. Additional study authors include Babatunde Adedokun, Guimin Gao, Peter N. Fiorica and Olufunmilayo Olopade of the University of Chicago; Zhaohui Du, Sue A. Ingles, David V. Conti, Michael F. Press and Christopher A. Haiman of the University of Southern California; Thomas U. Ahearn, Regina G. Ziegler, Stephen J. Chanock, Montserrat Garcia-Closas, Cari M. Kitahara and Stefan Ambs of the National Cancer Institute; Kathryn L. Lunetta, Gary Zirpoli and Julie R. Palmer of Boston University; Jonine Figueroa of the University of Edinburgh; Esther M. John of Stanford University; Leslie Bernstein of City of Hope Comprehensive Cancer Center; Wei Zheng, Sandra L. Deming-Halverson and William Blot of Vanderbilt-Ingram Cancer Center; Jennifer J. Hu of the University of Miami; Sarah Nyante, Melissa A. Troester, Jeannette T. Bensen and Andrew F. Olshan of the University of North Carolina; Elisa V. Bandera of Rutgers Cancer Institute of New Jersey; Jorge L. Rodriguez-Gil of the National Human Genome Research Institute; Song Yao and Christine B. Ambrosone of Roswell Park Comprehensive Cancer Center; Temidayo O. Ogundiran, Oladosu Ojengbede, Adeyinka G. Falusi and Chinedum Babalola of the University of Ibadan, Nigeria; Katherine L. Nathanson of the University of Pennsylvania; Anselm Hennis of the University of the West Indies, Bridgetown, Barbados; Barbara Nemesure of Stony Brook University; Lara E. Sucheston-Campbell of The Ohio State University; Lawrence H. Kushi of Kaiser Permanente Northern California; Gabriela Torres-Mejia of Instituto Nacional de Salud Publica, Cuernavaca, Mexico; Donglei Hu, Laura Fejerman and Elad Zivof the University of California San Francisco; Manjeet K. Bolla, Joe Dennis, Alison M. Dunning, Douglas F. Easton, Paul D. P. Pharoah and Qin Wang of the University of Cambridge; Kyriaki Michailidou of The Cyprus Institute of Neurology & Genetics; Dale P. Sandler, Jack A. Taylor and Katie M. OBrien of the National Institute of Environmental Health Sciences; Joel Yarney of the Korle Bu Teaching Hospital, Accra, Ghana; Baffour Awuah of the Komfo Anokye Teaching Hospital, Kumasi, Ghana; and Beatrice Addai-Wiafe of the Peace and Love Hospital, Kumasi, Ghana.

More here:
Comparing African and European populations leads to breast cancer risk discovery - Newswise

Famine exposure during early fetal development has been associated with higher rates of mortality, obesity, diabetes and schizophrenia. This can be seen, for example, in survivors of the Dutch famine caused by the Nazi blockade of the Netherlands in World War II. This famine ended over 70 years ago, but for survivors who were conceived during the famine, the health effects persist. Experiments in animal models have shown that diet in pregnancy can switch genes on or off and lead to major changes in body weight and other health-related effects.

Researchers atBaylor College of Medicineand theLondon School of Hygiene and Tropical Medicine(LSHTM) recently published a study on the developmental origins of health and disease (DOHaD) hypothesis that nutrition and other environmental exposures in early life have important consequences for lifelong health. Their findings were published inScience Advances.

Over thelast 10 years, researchers in The Gambia have employed an experiment of nature to investigate mechanisms underlying DOHaD phenomena. In subsistence farming communities, individuals conceived at different times of the year experience wide variation in nutrition during early development. The researchers investigated links between this seasonality and DNA methylation a molecular marking system of DNA that can turn genes on or off.

Using this approach, we have identified many genes in children in which the DNA methylation state appears to be influenced by their mothers diet in early pregnancy around the time of conception. But a major question has been: So what? said Dr. Toby Candler, lead author with the MRC Unit The Gambia atLSHTM.

To address this question, the researchers focused on just one gene they previously proved to be sensitive to nutrition around the time of conception:PAX8. This gene plays a key role in thyroid development, suggesting a straightforward hypothesis: nutrition-related methylation differences atPAX8influence thyroid development and function.

To test it, they measuredPAX8methylation in hundreds of Gambian children at 2 years of age to identify those with the highest and lowestPAX8methylation (within the top or bottom 10 percent). They then studied these same children again when they were 5 to 8 years old. This approach showed that lowPAX8methylation predicts increased thyroid volume (21 percent larger) and increased free T4, a key thyroid hormone. Even though the free T4 changes are considered be within the normal range, increased free T4 was associated with a decrease in body fat and bone mineral density.

PAX8methylation in the children also was associated with their mother's nutrition around the time of conception, specifically with circulating levels of vitamins B6, B12, homocysteine and cysteine.

Taken together,these results indicate a link between early environmental exposures,PAX8gene methylation and thyroid gland development and function, suggestinga molecular pathway linking maternal nutrition around the time of conception to epigenetic changes in the early embryo that persist for years, with consequences for postnatal health.

PAX8is the very first candidate gene we studied to ask whether low versus high methylation at these nutritionally-sensitive genes has any consequence for later health and metabolism, so these findings are really exciting, said Dr. Matt Silver, senior author and associate professor atthe MRC Unit The Gambia atLSHTM.

Weve identified thousands of genes with individual-level methylation differences that are established in the early human embryo. Many of these are associated with maternal nutrition around conception, so these results suggest enormous potential to better understand the epigenetic origins of human variation in health outcomes, said Dr. Robert Waterland, professor of pediatrics nutrition at the USDA/ARS Childrens Nutrition Research Center at Baylor and Texas Childrens Hospital.

Further work is required to confirm the direct causal connections between specific nutrients and DNA methylation marks established in the early embryo that persist into childhood, and likely beyond. The long-term goal is to provide future public health interventions aimed at optimizing the mothers nutrition before conception to improve health outcomes for their children.

Toby Candler is funded by an MRC Clinical Research Training Fellowship (MR/S006516/1). The British Society of Paediatric Endocrinology and Diabetes provided funding for this work to Toby Candler through its Research and Innovation Award 2018. The Gambian studies are supported by core funding from the U.K. Medical Research Council (MRC) MC-A760-5QX00 and by MRC grant MR/ M01424X/1. Programme funding for Andrew Prentice supported data acquisition and analysis of the whole-body DXA scans (U105960371 and U123261351).

Read more:
Beyond genetics: Early nutrition and epigenetic prediction of future health outcomes in humans - Baylor College of Medicine News

Several studies conducted over the years have found that South Asians have a higher burden of Coronary Artery Disease (PCAD) compared to other ethnicities.

A 2004 INTERHEART study first found that the mean age of the first presentation of heart attack was 53 years, a full10 years ahead of patients from Western Europe, China, Central and Eastern Europe.

Similarly, studies comparing the health of South Asian immigrants show that compared to local populations, they demonstrated a higher burden of CAD.

The INTERHEART study also indicated that South Asians who suffered a heart attack have low HDL-C (good cholesterol) levels, higher triglyceride levels, and a higher particle burden for LDL-C (bad cholesterol) levels.

Also Read |What's wrong with young Indians' hearts?

South Asians also have other risk factors, like dysfunctional HDL levels (where HDL particles lose their antioxidant and anti-inflammatory properties) and Lipoprotein (a) levels.

When asked about the roles of genes in Heart Disease, particularly among the Indian population, Dr Swathi Shetty, Assistant Professor at the Centre for Human Genetics, says the answer is not straightforward.

"If you have a history of heart disease in the family, that could indicate a higher genetic risk than the average population. But because there are so many variables causing heart disease, to pinpoint particular genes is difficult," Dr Swathi says.

CAD, like Cancer, is a multifactorial disease where genetics, environment and lifestyle play a major role. This is in stark contrast to single-gene disorders like Beta Thalassemia, Huntingtons disease or Cystic Fibrosis, where we know the gene associated with the disease.

Also Read |Genetic factors may have led to Puneeth Rajkumars death

"Compared to cancer we are still way behind. We know much more about cancer genes. Cancer is basically the proliferation of cells. It is easier to look at those because we know there are genes which control the division. In Cardiovascular disease (CVD), there are many other factors involved, including the Nitric oxide in your vessels, coagulation factors, and many more,"Dr Swathi says.

For instance, in 2011, 58 genomic regions associated with CAD were discovered, but most of the heritability cannot be explained.

"They have done studies among people with CVDs and looked for areas of DNA that they have in common. And we have found regions that are not even an expressed gene. That is another layer of difficulty. It [gene] doesn't code for a protein. Is it really increasing the risk? For these, we need huge numbers of patients to try and correlate," Dr Swathi adds.

Another 2018 paper studying Premature Coronary Heart Disease burden in South Asians identified six variants of the CX3CR1 gene which were unique to South Asians and "not found in large (mostly European) cohorts".

But the study concluded that findings "do not allow definite conclusions, especially with regard to how these could impact therapy."

While CAD does seem to have a genetic component involved, we also know that lifestyle factors like smoking, exercise, stress management etc also impact development of the disorder, which is something that people can still control and moderate, Dr Swathi adds.

Check out latest DH videos here

See the original post here:
Is there a genetic component to heart disease? - Deccan Herald

NatureScot is one of several organisations joining a pioneering initiative to sequence the genomes of all species found in Britain and Ireland in an effort better understand our biodiversity and how it will cope with climate change. By Andrew Collier.

We are in a race against time to save not just the planet, but many of the things living on it. Climate change is causing a massive threat to biodiversity, and we know that it is going to mean species will disappear.

As we face this threat, we need to find ways to preserve the natural ecosystems that we have. An answer to these challenges is likely to be found in sequencing genomes the sets of DNA present in all organisms.

An internationally important project to carry out this work is currently being undertaken in Scotland and across Britain and Ireland by a pioneering initiative known as the Darwin Tree of Life project.

Part of this game-changing science is being conducted at the Beinn Eighe National Nature Reserve in Wester Ross, managed by NatureScot, Scotlands nature agency.

The hugely ambitious project will run until 2029 and aims to sequence, assemble and openly publish the genomes of all species found in Britain and Ireland, beginning with 2000 species representing every family of plant, animal and fungus.

It also aims to develop the tools and techniques that will be needed to complete the cataloguing of tens of thousands of remaining species before the end of the decade.

As well as NatureScot, a number of other highly respected organisations are involved in the project. They include the Royal Botanic Garden Edinburgh, the University of Edinburgh, the Natural History Museum in London and the Wellcome Sanger Institutes Tree of Life programme.

In addition, experts from National Museums Scotland and the Highlands Biological Recording Group, a citizen science organisation which has been surveying Highland wildlife since the 1980s, have played an important role in the research in Scotland.

Professor Mark Blaxter is the Project Lead at the Wellcome Sanger Institute near Cambridge, one of the worlds leading genome research organisations. He said: One of the goals of the project is that we will really start to understand the processes that generate biodiversity the processes of evolution. It might let us predict what is going to happen in the future.

David OBrien, NatureScots Biodiversity Evidence and Reporting Manager says the scope and ambition of the project was a major draw for the agency: When we first heard about this, we thought that this was potentially a game changer for genetic research in the UK and Ireland, but specifically so in Scotland.

Its an extremely ambitious project, but it has so many potential benefits when it comes to nature conservation. We tend to think of nature as either a habitat or a species a woodland, for instance, or a Scots pine tree within that woodland.

We dont normally think about the genes within that tree, or within the woodpecker thats banging on it. But genes are the building blocks for all of it. You cant have species without these.

Sample collecting from Beinn Eighe has already started. A recent trip in September focused on invertebrates, particularly wasps and moths, while earlier ones have concentrated on flora.

Techniques used in the field include sweeping, which involves catching flying insects in nets, and beating in other words, knocking bugs, larvae and similar species out of the trees and onto canvas.

Another method is suction sampling, sometimes called bug hoovering. This involves the use of a machine that resembles a reverse leaf blower to suck invertebrates out of the undergrowth.

Other technologies used include a pooter two rubber tubes attached to each other at either end of a sample container. By sucking on one end of the device, the collector can get specimens into a container with a high degree of accuracy. A gauze filter stops the specimen becoming an unwanted snack for the collector.

In addition, bright lamps are placed inside cylindrical traps. These attract moths overnight which are also then collected.

Once they have been gathered in, a small sample is identified by expert taxonomists before being flash frozen to preserve their DNA, which degrades very quickly after death. They are then transported to the Natural History Museum for DNA barcoding an essential part of the process which looks at unique segments of each species' genome, which is a helpful way to then quickly identify them in their environments. Finally, samples are taken to Sanger for whole genome sequencing.

We are seeing signs of biodiversity decline all around us, says David OBrien. Obviously, we are worried. Those genetic building blocks hold the key to resilience and how animals, plants and fungi will adapt. So when the idea of this project was floated past me, I thought we just had to be part of it.

NatureScot is deeply and actively involved in the study, helping to fund the laboratory work and having an input into the key species that will be sequenced first. It has also made its managed sites available Beinn Eighe is the focal point, but lichens have been collected from its other reserves.

We are making sure that everything goes smoothly by ensuring that everything is coordinated and that the various nature-related bodies can understand why we are doing this and what we hope to get from it. We will also get to use some of the information in the later stages of the project.

There are a number of things that can be done with this data, Dr OBrien says. One use comes from collecting Environmental DNA (eDNA) through a technique that works best in ponds and rivers. We are already doing this in Scotland we take water samples and put them through a filter in a lab.

You then look at the DNA that is in the water, shed from skin or from the faeces, and that will indicate the species present. Its really useful for knowing where they can be found and it reduces disturbance of them compared to other survey methods. Thats helpful when it comes to conservation.

Climate change, he adds, means that new diseases and pathogens are arriving in Scotland. Having genetic diversity will give the animals and plants more scope when it comes to having resistance, and sequencing will help us to understand this.

Also, as climate change starts to affect our wildlife, we expect that some species will be better able to adapt, and within those species there will be individual examples that have the genes to help them cope a bit better with the new regime.

If we are serious about protecting nature for its own sake as well as for the benefits we get from it, then making sure that we have the full toolbox is key. To have that, we need to understand what is there at a genetic level.

Yet another benefit of the project is that genome sequencing can reveal that two species that look the same are in fact completely different. This means that it is possible that we discover species we do not currently know exist.

There is a tendency in Scotland, David OBrien says, to believe that none have been lost here since the great auk became extinct in the 1840s. But we could be losing some tiny creatures without even knowing they were ever there.

However, if I was a betting man, Id be happy to put a small wager on us discovering some new species through this project. In Scotland, we already have an international reputation for genetics in relation to wild species, and thats something we can build on and share with other countries.

Beinn Eighe is a treasure trove for harvesters of genomic data

Choosing a main survey area for the groundbreaking Darwin Tree of Life project proved to be a major challenge for the team involved not because there were too few potential locations in Scotland, but because there were so many.

When it came to choosing a focal site, we were faced with a tremendous task, says David OBrien. So many are internationally recognised.

In the end, Beinn Eighe in Wester Ross was thought to be particularly well qualified. It was the first national nature reserve to be established 70 years ago and is home to a wide variety of animals, fungi and plants.

These include the northern prongwort, a liverwort found nowhere else in the world apart from on a neighbouring mountain. Beinn Eighe was also the first Gene Conservation Unit to be registered in the UK in recognition of its work to protect the locally adapted Scots pine.

However, other sites in Scotland will also be surveyed. So far more than 150 specimens from over 100 different species have been collected. A highlight has been a moth, Griposia aprilina, also known as the merveille du jour or marvel of the day. It is perfectly adapted to camouflage itself against lichen.

The data gathered from the project are likely to prove hugely useful. Genomic data will help us to gain a fuller understanding of how species have evolved and responded to changes in climate.

This in turn will help humankind to address some of the fundamental problems it faces when it comes to land use, food production and decarbonisation.

The reference genome data will also prove to be a treasure trove for biotechnologists and pharmaceutical scientists looking for novel biomaterials substances that have been engineered to interact with biological systems for a medical purpose.

The data will also be massively useful to medical researchers and benefit human health for example, by helping to develop new antibiotics to overcome antimicrobial resistance or treatments, or for fighting emergent pathogens leading to illnesses such as Covid-19.

Biomaterials will also have an important role to play in creating a sustainable future and a post-carbon economy. They could prove to be key to scientific and technological development in a number of areas, including micro systems operating via sensory inputs and post-oil rubber and plastics.

Genetic diversity underpins the adaptive potential of species and so the resilience of ecosystems, says David OBrien. We became involved in this project because we recognise that if we are to safeguard this, we first need to understand it.

We see it as a great opportunity to ensure the genetic diversity of Scotlands wildlife is recorded and made available to all.

IT IS GOING TO BE TRANSFORMATIVE

Understanding and conserving biodiversity is fundamental to human survival and the Darwin Tree of Life project will advance our knowledge in this area, according to one of the leading figures working on the initiative.

Professor Mark Blaxter is the Project Lead at the Wellcome Sanger Institute near Cambridge, one of the worlds leading genome research organisations. Genomics allows us to understand the DNA that is in every species, he says, and this should help us to tackle the current biodiversity crisis.

One of the goals of the project is that we will really start to understand the processes that generate biodiversity the processes of evolution. It might let us predict what is going to happen in the future. We really hope to provide an amazing foundation for people to conserve, promote and expand biodiversity. Genetic monitoring is really important in conservation.

Those on the project also believe that they will provide the raw materials necessary to generate a new sort of economy, he adds. There are many natural materials out there that are untapped.

Our hope is that by finding the genetic materials for all these species, we will enable new pharmaceuticals to be found to treat old diseases and new ones. We will make it possible to transition from the carbon-based economies we have at the moment to ones based on natural products.

Professor Blaxter and his colleagues on the project also believe that it will capture the public imagination. If every species has its genome sequenced, we are going to change the way people do biology forever.

It will be an amazing transformation to how we understand the natural world. If you think about it, the human genome was completed about 20 years ago, and that has changed the way we look at human medicine and how we understand human society.

It will be the same for these genomes. If we have that sort of information for every species, it is going to be transformative.

Link:
NatureScot: Race is on to track down the tree of life - HeraldScotland