Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- 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
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… Developmental biologists have been able to do single-cell gene expression profiling on whole tissues. If we apply those … do you see as the most exciting future opportunities in gene therapy?  Bodine: When we founded the American Society …
Staff
Dr. Colin Fletcher is the program director in the Knockout Mouse Project (KOMP) in NHGRI's Extramural Research Program.
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… research focused on adeno-associated virus (AAV) gene therapy for the treatment of hemophilia A, a genetically … Dr. Chandler’s research has focused on the efficacy of gene therapy as a treatment for rare genetic disorders, such … Kishimoto TK. ImmTOR nanoparticles enhance AAV transgene expression after initial and repeat dosing in a mouse model …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
​
… variant in the duffy antigen receptor for chemokines gene. PLoS Genetics , 5(1): e1000360. 2009. [ PubMed ] CY … Zmuda, TB. Harris. Plasminogen activator inhibitor type 1 gene polymorphisms and haplotypes are associated with plasma … "The 894T allele of endothelial nitric oxide synthase gene is related to left ventricular mass in African Americans …
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 …
News Release
Investigators with The Cancer Genome Atlas Research Network have identified new potential therapeutic targets for a major form of bladder cancer.
… mutated. They discovered mutations in the TP53 gene in nearly half of the tumor samples, and mutations and … They found frequent mutations in the ERBB2 , or HER2 , gene. The researchers also identified recurring mutations as … for which targeted drugs already exist. Because the HER2 gene and its encoded protein, HER2 - which affects cell …
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 …
Media Availability
New research provides a better understanding of some of the genetic and cellular changes in pathways and processes involved in Autism Spectrum Disorder.
… of important processes in the brain, from controlling gene activity to transmitting messages. The research was …
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 …