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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program3
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomic Innovator Awards1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… density lipoprotein (LDL) cholesterol beginning at birth and heart attacks at an early age. … Familial hypercholesterolemia is an inherited … (low density lipoprotein) cholesterol beginning at birth, and heart attacks at an early age. Cholesterol is a fat-like …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… (NHGRI), part of the National Institutes of Health, and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published … elsewhere, it was clear that they were onto something new. “It was as if lightning had struck three times in the …
News Release
NIH is launching a program, Molecular Phenotypes of Null Alleles in Cells (MorPhiC), to better understand the function of every human gene and generate a catalog of the molecular and cellular consequences of inactivating each gene.
… to better understand the function of every human gene and generate a catalog of the molecular and cellular … Division of Genome Sciences. The MorPhiC program offers a new approach to understanding gene function when compared to … MorPhiC program will be awarded to support the following investigators: Mazhar Adli, Ph.D. Northwestern University …
Research Training
The FLAGSHIP program aims to train early career postdoctoral scientists to become future leaders in genomic sciences research.
… fully achieved without successfully attracting, developing and retaining a diverse workforce that includes people from … These efforts have used genomic sequence data from humans and other species to pinpoint hundreds of potential disease … and fosters health equity. … FLAGSHIP aims to train early career postdoctoral scientists to become future leaders …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood. The team's discovery coincides with … that has led not only to a diagnosis, but to fundamental new insights into blood vessel disease. In their study, which …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… in different tissues, leading to hematological, skeletal, and neurological manifestations seen in patients with Gaucher … fatigue. Symptom onset may occur anytime between early childhood and adulthood. Type 2 GD: This is the most … an international collaboration and publishing of the 2009 New England Journal paper “ Multicenter Analysis of …
News Release
NHGRI has selected Robert Rivers, Ph.D., as the new director of the Office of Training, Diversity, and Health Equity (TiDHE). In this role, Dr. Rivers will provide strategic and programmatic leadership to extramural workforce development programs to prepare individuals for a genomics careers.
… of Health (NIH), has selected Robert Rivers, Ph.D., as the new director of the institute’s Training, Diversity and Health Equity (TiDHE) Office. In this role, Dr. Rivers … to promote diversity, I’m excited to welcome him as the new TiDHE Office director,” said Vence Bonham Jr., J.D., …
The Genomics Landscape
In the April 2020 edition of The Genomics Landscape, NHGRI Director Eric Green provides an update on the final stage of the Genomics2020 strategic planning process; the NIH website for COVID-19 information, the Gene documentary debut on PBS and more.
… describes some useful information sources about the virus and some specific resources for NIH grantees and applicants. … in a story below), I suggest you consider watching the new NHGRI-produced video for making a foldable origami model … the provided feedback, finalize the strategic plan by early summer, and then submit it for publication. The …
Fact Sheet
Early in the COVID-19 pandemic, researchers used state-of-the-art genomic sequencers to quickly sequence the SARS-CoV-2 virus.
… … Early in the COVID-19 pandemic, researchers used … researchers from across the globe to analyze the virus and better understand how it causes disease. The speed of … allows researchers to update the vaccine if they detect new strains of the virus that may require a new versions of …
News Release
NHGRI is awarding Genomic Innovator Awards to nine institutions to support the research of 12 early career scientists in the field of genomics. The awards will total up to $27 million over five years.
… … The National Human Genome Research Institute honors 12 early career investigators. … The National Human Genome … by genomics investigators who are early in their careers and part of consortia or other team-science efforts. Six … Christine Lu, Ph.D. Harvard Medical School, Boston Pioneer new approaches for efficient, rigorous evaluation of outcomes …