Search Results
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
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… inequities. The Bonham group also studies sickle cell disease, a condition that will be impacted by emerging … group also studies sickle cell trait and sickle cell disease, a condition with applications for emerging genomic … is the Democratizing Education for Sickle Cell Disease Gene Therapy , which was launched in 2022. … Vence Bonham …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… insight into the biological mechanisms of human health and disease. The researchers used whole genome sequencing and … owners. In particular, the study found that the LCORL gene is associated with dog body weight and height. LCORL … (ex. Golden Retriever). Their analysis revealed that the gene ESR1  is associated with long legs in dogs. In humans …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… risk suggesting a significant heritable component to the disease. Dr. Parker has both led and supported multiple … and ChIP-seq to identify not only variants that cause disease but also markers of disease that may be targeted for … CS, Parker HG , Ostrander EA. A mutation in the myostatin gene increases muscle mass and enhances racing performance in …
Staff
Stacie Anderson is an associate director in the Office of Scientific Core Facilities and is also the director of the Flow Cytometry Core. ​
… for analyses of functional cellular properties and gene transcription profiles including scRNAseq, as well as …
Staff
Dr. Sean Conlan is an associate investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.​
… strain diversity modulates atopic dermatitis disease pathogenesis. [In Press] Dekker BK, Lau AF, Dekker … JA. Temporal shifts in the skin microbiome associated with disease flares and treatment in children with atopic …
Staff
Dr. Tyra Wolfsberg is the associate director of the Bioinformatics and Scientific Programming Core at the National Human Genome Research Institute.
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… genome browser to view the Mnemiopsis genome assembly, gene predictions and other biologically relevant sequence … the efficacy and safety of retroviruses used as vectors in gene therapy studies. More recently, her group has expanded … analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med , 361:1651-61. 2009. [ PubMed ] Kim YJ, …
Educational Resources
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.
… capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms. … Genetic Mutation, Genes, Alleles, … its offspring a genomic variant (allele) associated with a disease (or trait) that is inherited in an autosomal …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… of the study and senior investigator in the Genetic Disease Research Branch at NIH's National Human Genome … , co-author and staff scientist also in NHGRI's Genetic Disease Research Branch. Read the Study Loci associated with … variation in some African populations, furthering skin disease and cancer research in all populations. … Skin color …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… reached this conclusion after identifying 59 genes or gene regions linked to canine athletics, including those with … researchers have identified about 200 germline mutations - gene variants that can be passed on to subsequent generations … and fatigue resistance. Because it's difficult to identify gene variants' influence on human populations over time, …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… in only a few people. Most of these variants do not affect disease risk, response to drugs or other traits such as … methods to integrate many data sets related to gene and variant function, to predict which variants (or … mega-analysis for functional assessment of multi-enhancer gene regulation R01 HG008146 Yunlong Liu, Todd Skaar Indiana …