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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 …
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
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 …
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 …
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 …
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 …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… The New York Academy of Medicine honors NHGRI Scientific Director for advances in genetic epidemiology and efforts to enhance the diversity of the human genetics … of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… Network will analyze and improve how genomic information is integrated into … awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into … Bick, M.D., Ph.D. … Coordinating center and principal investigators … Clinical sites and principal investigators … …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… Steven Benowitz … Six new grants from the National Institutes of Health (NIH) will … or in other traits. The awards are for three years each and total approximately $13 million, pending the availability … Carolina, Chapel Hill; $2.2 million, three years Principal Investigators: Alain Laederach, Ph.D. and Kevin Weeks, Ph.D. …
Event
A series focusing on a specific topic of genomic research by pairing an early career researcher funded under NHGRI’s Genomic Innovator Award Program with an established researcher whose own contributions have paved the way for the specific research area.
… Beginning September 2022, NHGRI will host a new seminar series based on its Genomic Innovator Award  Program, which supports innovative work by early-career genomics investigators who are part of consortia … endeavors with great potential to accelerate research and have the chance to ask questions of some of the brightest …