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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… lasting three to five days,” said Kalpana Manthiram, M.D., Clinical Fellow at NHGRI and lead author of the study. “That … possibility that multiple genes are involved. During her clinical fellowship at Vanderbilt University Medical Center … “Identifying the disease has been mostly based on clinical history and depends on parents and doctors …
Profile
After a lifelong obsession with completing things, Adam Phillippy has helped in the final completion of the human genome sequence. The researcher talks about his life path to genomics, his relationship with perfection and his next big thing.
… work has also paved the way for improving human health in clinical practice. “Dr. Phillippy’s accomplishments in … says Seema Lalani, M.D., professor of molecular and human genetics at Baylor College of Medicine. “Having a better …
Event
On November 18, 2021, NHGRI will host an NIH Genomics and Health Disparities Special Interest Group lecture, "NIH Approach to Inclusive Excellence - The COSWD Viewpoint" by Marie A. Bernard, M.D.
… that ensures appropriate inclusion of individuals in clinical studies, including by sex/gender, race/ethnicity, … national leadership in geriatrics research, teaching, and clinical practice has been recognized by the Clark Tibbits …
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… disease . Findings from this first comprehensive review of clinical outcomes associated with SCT were published in the …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… builds on past discoveries, often in unexpected ways. Most clinical advances would not be possible without the knowledge …
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… for diseases, such as changing their behavior and seeking clinical care. African Americans experience a …
News Release
Dr. Wilson officially retired from The National Human Genome Research Institute (NHGRI) in September 2020, yet he remains on as a scientist emeritus in its Computational and Statistical Genomics Branch, where he was co-chief for 14 years.
… College), Dr. Wilson received his Ph.D. in medical genetics with a biomathematics minor in 1980 from Indiana … Back then the term genomics didn't even exist! It was all genetics. I had a topsy-turvy path in college. I was a … switched to biology. In a way, I ended up studying genetics almost by accident, by finding out lots of things I …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… collaborator Anne Parle-McDermott, Ph.D., a professor of genetics at Dublin City University, decided to investigate. …
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… and NIH staff were published this fall in the journal Genetics in Medicine . Your browser does not support the … of our genetic information is critical. It is not just the genetics of one consented individual, but of an entire …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… in the journal Nature , was led by the Global Lipids Genetics Consortium. The authors include researchers at the … Willer, Ph.D., senior author and professor of human genetics at the University of Michigan, Ann …