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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
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… United States, an estimated 2.5 to 3 million people have a gene variant associated sickle cell trait (SCT) and most … SCT means that a person has inherited the sickle cell gene from a parent. … Related Content … Systematic review … at increased risk. ​ … sickle cell trait, Vence Bonham, gene variant … Researchers have now identified three health …
Clinical Research
This team-based clinical service is provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Genome Sequencing, Secondary Findings, Genetic Variant, Gene Variant, Gene Variation … This team-based clinical service is provided …
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… of DNA called methylation, which can control the expression of genes like a dimmer on a light switch. … Higher … found by the researchers in some tumor DNA, decreases a gene's activity. Based on this advance, the researchers hope … but we found an elevated methylation signature around the gene known as ZNF154 that is unique to tumors." Dr. Elnitski …
Staff
Lisa Garrett is an associate investigator and director of the NHGRI Transgenic Mouse Core.
… projects. To this end, she has concentrated on developing gene-editing protocols that will provide more efficient means … an updated guide for protocols using CRISPR/Cas9 and other gene-editing tools. This guide is provided on the in-house … the publication, Highly Efficient Cpf1-Mediated Gene Targeting in Mice Following High Concentration …
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 …