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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide Sequencing Implicates Monogenic Disruption of Vascular … - 4:15 p.m. Faith Pangilinan Performance of a genome-wide association study of neural tube defects allows an unbiased …
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.
… with PFAPA syndrome … Researchers at the National Human Genome Research Institute (NHGRI), part of the National … linked to Behçet’s disease and canker sores. The strongest association was with the gene IL12A , which encodes an … disorders. Ultimately, the researchers hope that such studies on PFAPA syndrome will yield new treatment options, …
Event
The Current Topics in Genome Analysis lecture series offers a mixture of local and outside speakers covering the major areas of genomics.
… NHGRI will once again be presenting its "Current Topics in Genome Analysis" lecture series. Given the rapid advances in … research. Interpret case studies involving genome-wide association approaches. Utilize bioinformatics-based …
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.
… NHGRI’s Intramural Research Program. … The National Human Genome Research Institute (NHGRI) has selected Charles … to watch his ever-increasing impact on genomics world-wide and the global recognition of his achievements.” The … facilitated the large-scale implementation of genome-wide association studies. He was an active scientist in the 1,000 …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… Prabarna Ganguly, Ph.D. … Study used a “search the genome” approach to reveal how mutations in a gene called … to disease diagnosis. Researchers from the National Human Genome Research Institute have discovered a new inflammatory … 1,000 patients had undiagnosed recurrent fevers and body-wide inflammation. The rest, part of the NIH Undiagnosed …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… genetic disorders, with the hope that these preclinical studies will eventually lead to clinical trials and decrease … in the Metabolic Medicine Branch at the National Human Genome Research Institute (NHGRI), knows these skeletal … leads the Skeletal Genomics Unit at NHGRI, where he studies several rare skeletal disorders; his efforts range …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… Blood Advances , was led by researchers at National Human Genome Research Institute (NHGRI), part of NIH, The Johns … of breath, chest pain and fainting. While previous studies have demonstrated that in individuals with sickle …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… how they use artificial intelligence for their genomic studies. … As researchers continue to unravel the many … people’s faces . Researchers at the National Human Genome Research Institute (NHGRI) are increasingly using … step for using machine learning tools. Her research group studies physical movements in the virtual reality food buffet …
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.
… with family members. … Researchers at the National Human Genome Research Institute (NHGRI), part of the National …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… expressed overall optimism about participating in human genome editing clinical trials, but were concerned about … community voices to the design and recruitment of upcoming genome editing studies will be essential for the success of clinical trials …