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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
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… NHGRI. With the broader adoption of genome sequencing in clinical care, researchers and the bioethics community are … breast cancer. Based on the American College of Medical Genetics and Genomics recommendations in 2021 , individuals who have their genomes sequenced for a clinical reason should also be screened for genomic variants …
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… rose through the NIAMS investigator ranks to become NIAMS clinical director from 2005 to 2010. Both NHGRI and NIAMS are … research agency. "Dan's remarkable scientific and clinical accomplishments - as a researcher and a practicing … disorders of inflammation and treating patients at the NIH Clinical Center. Inflammation is the body's response to …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… that target the liver. The study results were published in Genetics in Medicine . Scientists at the National Human … levels of carbon 13 oxidation also correlated with better clinical outcomes, such as improved cognition and slower … Currently, the test is only available for use at the NIH Clinical Center; however, the researchers hope it will soon …
News Release
NHGRI has selected Sara Chandros Hull, Ph.D., and Shawn Burgess, Ph.D., as deputy scientific directors of NHGRI’s Intramural Research Program.
… Research Program at NHGRI is a worldclass research and clinical enterprise that conducts basic, translational and clinical research in genetics and genomics. The program, housed within the …
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.
… inflammatory conditions who were coming to the NIH Clinical Center, and we were just unable to diagnose them,” said David B. Beck, M.D., Ph.D., clinical fellow at NHGRI and lead author of the paper. … inflammatory conditions who were coming to the NIH Clinical Center, and we were just unable to diagnose …
News Release
Researchers have released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
… the paper. “With a pangenome reference, we can accelerate clinical research by improving our understanding of the link … samples, explore possible regulatory issues pertaining to clinical adoption, and work with international and Indigenous …
News Release
NHGRI has selected James Thomas, Ph.D., as the new director of the NIH Intramural Sequencing Center (NISC), to will oversee the importation and use of DNA sequencing technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing methods and specialized genomics protocols to meet their research needs.
… their research.” Dr. Thomas discovered his passion for genetics during his undergraduate studies at Washington … University in St. Louis. He went on to obtain his Ph.D. in genetics from Case Western Reserve University, researching … spanning a wide range of fields, from basic science to clinical research. It always comes back to supporting the …
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
… and clinicians to find new genomic variants, accelerate clinical research and deepen our understanding of the human … Garrison, Ph.D., assistant professor in the Department of Genetics, Genomics and Informatics at the University of … Health Science Center Ira Hall, Ph.D., professor of genetics and director of the Yale Center for Genomic Health …
News Release
Scientists have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence.
… and for using genome sequence as a routine part of clinical care in the future. Many research groups have …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… and their support networks to learn about the gene therapy clinical trial process, its benefits and risks, mental health … information about what participating in a gene therapy clinical trial entails,” said Kiana Amini, a … between this community and those conducting relevant clinical trials. Bonham and his group led a series of four …