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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 …
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. … that engagement.  Genomics2020 has now entered the final stage – its homestretch. With an eye towards the October 2020 … 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 …
Research Training
An opportunity for students to receive individualized research mentoring, learn about careers in genomics and have access to a network of early-career genome scientists.
… fully achieved without successfully attracting, developing and retaining a diverse workforce that includes people from … about careers in genomics and have access to a network of early-career genome scientists. Students will also attend … about careers in genomics and have access to a network of early-career genome scientists. … Immersive Summer Program …
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
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 …
Professional Development
ASHG and the National Human Genome Research Institute (NHGRI) co-sponsor the Genetics Education and Engagement Fellowship to support early-career genetics professionals wishing to transition to careers in genetics education and public engagement.
… … Rapid advances in human genetics/genomics research and genomic medicine are increasingly relevant to everyday … Genetics Education and Engagement Fellowship to support early-career genetics professionals who wish to transition to … three professional references … Strong candidates will be early in their career path and demonstrate the following: A …