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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
Event
The 2019 NHGRI Symposium provides an exciting forum for the exchange of scientific and research ideas, forging of new collaborations, and networking across the Institute.
… University. Download the Agenda … Masur Auditorium NIH Clinical Center Building 10 … MD … 10 Center Dr. … 2019 NHGRI …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… is also the Charles A. Dana Investigator in Human Cancer Genetics at the Dana-Farber Cancer Institute and professor of … - 3:00 p.m., at the Lipsett Amphitheater, Building 10 (Clinical Center), on the National Institutes of Health (NIH) … - 1:00 p.m., at the Lipsett Amphitheater, Building 10 (Clinical Center), on the National Institutes of Health (NIH) …
Profile
An interview with Meru Sadhu, an Earl Stadtman Investigator and head of the systems biology and genome engineering section within the NHGRI Intramural Research Program, where he talks about his research and why yeast have a special place in his heart.
… in uncovering? Sadhu: My goals are similar to what genetics researchers have tried to understand for over a century. What are the genetics’ underlying traits? What makes them so complex? My … yeast one of your favorite organisms to use for studying genetics? Sadhu: There are so many reasons. Yeast have a …
Profile
NHGRI science writer Prabarna Ganguly spoke with Segre about her research career, what makes microbes so complex and her roles in science policy and anti-harassment campaigns.
… with clinicians from other NIH institutes and the NIH Clinical Center who see patients and used our genomic tools … of the first scientists to stand up a microbiome-focused clinical protocol, and I am thrilled to see the project’s …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… up in a related field. For example, my lab studied the genetics of pigmentation, but often, these genes would affect … was often intimidating. But we would jump in, keep doing genetics research, but also become experts the other … School of Medicine, which sparked his interest in genetics and genomics. After completing a postdoctoral …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… test results and cancer, but there is a big gap in clinical practice about what to do when a test result comes … save lives.” Dr. Bianchi and her research group started a clinical study at NHGRI called Incidental Detection of … the morning of her MRI appointment, Erica came to the NIH Clinical Center and lay down in a narrow tube, completely …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… Award this year. "Bill's many years of contributions to genetics and genomics research, coupled with his passionate … Undiagnosed Diseases Network (UDN), which includes 12 clinical sites and supporting facilities across the country. … Research Program. For 16 years, Dr. Gahl served as NHGRI's Clinical Director, stepping down from that position in 2019. …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… optimism about participating in human genome editing clinical trials, but were concerned about treatment risks and … colleagues. The findings were published December 24 in Genetics in Medicine . "Bringing community voices to the … editing studies will be essential for the success of clinical trials and implementation of new genetic curative …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… and chief of the Medical Genomics and Metabolic Genetics Branch at NIH's National Human Genome Research … said Richard Siegel, M.D., Ph.D., TGAC co-organizer, clinical director and chief of the Autoimmunity Branch at … ask participants with the genotype to come to the NIH Clinical Center in Bethesda, Maryland. It is the world's …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
… M.D., chief of the NHGRI Medical Genomics and Metabolic Genetics Branch, who has extensive experience in genomic … joining the program will be Josh Denny, M.D., an expert in clinical informatics and precision medicine whose research … rapidly growing area at the interface between genomics and clinical informatics. Leslie Biesecker, M.D., chief of the …