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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… research determining the effect of genetic variation on gene function and identifying primary targets for potential … kinase signaling and the search for the IL2Rg gene. In 1993, he moved to the NHGRI Intramural Research … Network for Systematic Analysis of Pancreatic Islet RNA Expression (InsPIRE) consortium. In addition, he is a …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… also allowed them to study the response to liver-directed gene therapy and to compare the findings in patients after … tests presented in the study in the design of upcoming gene-based clinical trials that the lab has worked on for … acidemia, medical genomics, genetic disorders, gene therapy, Charles Venditti … Researchers have discovered …
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… Next we use these heritable brain phenotypes for both gene discovery (through GWAS) and gene understanding. Translational studies:  We are attempting … National Human Genome Research Institute. … Philip Shaw, gene-environment interactions, attention deficit …
Staff
Dr. Shawn Burgess is the co-deputy director of NHGRI's Intramural Research Program.
… the last decade has been focused on developing efficient gene knockout technologies in zebrafish, coupled with efficient phenotyping of the gene disruptions. … For the last decade, the Burgess lab has … the opportunity to test the function of every vertebrate gene, and by extension, the function of their human homologs. …
News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.
… cancer. Both men and women can inherit a faulty BRCA2 gene from either their mother or father. When working properly, the BRCA2 gene helps stop cells from becoming cancerous by producing … alterations that inactivate both copies of the BRCA2 gene. Tumors with inactivated BRCA2 had other additional …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… is an inherited condition caused by alterations in the GBA gene. It affects one in every 50,000 to 100,000 people, but … therapy for Gaucher disease, Ellen Sidransky Ph.D., GBA gene alterations, glucocerebroside accumulation … A team from …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… Genetic Disorder, Genetic Disease, Genetic Condition, Gene Mutation … The Attention Deficit/Hyperactivity Disorder …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… multiple common disease phenotypes. ​ … Genome Sequence, Gene Variants, Genetic Risk, Common Disease, Rare Disease, …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… aciduria type III, HPS-2, HPS-3 and HPS-9. The gene responsible for HPS-9, PLDN encodes pallidin, a member … identified NBEAL2 as the gray platelet syndrome (GPS) gene. GPS platelets have no alpha granules, which store … nephrolithiasis due to biallelic mutations in CYP24A , the gene encoding the 24-hydroxylase that inactivates vitamin D. …