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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
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… These findings, reported in the American Journal of Human Genetics , demonstrate the need to improve these AI tools … said Ben Solomon, M.D., senior author of the study and clinical director at the NIH’s National Human Genome Research … fellow who led the study. “There are not very many clinical geneticists in the world, and in some states and …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet … (NIH).  Thanks to her aunt, Emily found the NIH RUNX1-FPD clinical research study , which takes a detailed look at the clinical and genetic features of people who may have the rare …
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… Intramural Research Program , which conducts basic and clinical research to enable a greater understanding of human … and genomics researcher with expertise in statistical genetics, computational science, biochemistry, health … Branch. He has designed and led major basic science and clinical research projects in human genomics. Dr. Rotimi is …
Event
Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and health disparities.
… of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and … of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and … of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… contrasts with the typical phenotype-first approach to clinical research, which starts with clinical findings. A genotype-first approach to patient care … The study was published in the American Journal of Human Genetics . “We demonstrated that genotype-first research can …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… Research Institute, her research shifted the view of how genetics contributes to cancers. … Sonja Soo: What inspired … and in your future. … Soo: How did you decide to study genetics, and specifically statistical genetics?   Bailey-Wilson: In college, we had a short …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… teacups and multi-colored teabags.  Dr. Tifft, the deputy clinical director at the National Human Genome Research … atrophy. Before a new gene therapy treatment is approved, clinical trial research must be conducted with research … lives. “We are moving science and medicine forward with clinical trial research. It’s a slow process because research …
Event
The National Human Genome Research Institute is hosting a seminar, "Genomics, Imaging and AI - three technologies that are changing biological research through to clinical practice," on January 10, 2023. Dr. Ewan Birney is the guest speaker.
… that are changing biological research through to clinical practice ." Over the last two decades, three major … touching on both fundamental biological discoveries and clinical applications. Lastly, he will provide perspective … that are changing biological research through to clinical practice," on January 10, 2023. Dr. Ewan Birney is …