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Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… transformative discoveries are made.  We would identify a gene from a screen or from observing a trait in an animal model, and then we explored what that gene did. That would often take us into a system or field … Branch that focused on understanding genome function and gene pathways in development and disease. As head of the …
Research Funding
GS-IT provides sequence analysis tools and software to scientists who rely on genomics in their research.
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… SLAM family members are required for proper T:B cell interactions. Therefore, in the absence of SAP, T cells … by demonstrating that they arise from altered T:B cell interactions in the absence of SAP, suggesting potential … therapeutic intervention via inhibition of SLAM family interactions.  Studies of CD8+ T cell function have now been …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. His group described the natural history … and collaborators have already obtained Food and Drug Administration approval for oral and topical cysteamine … aciduria type III, HPS-2, HPS-3 and HPS-9. The gene responsible for HPS-9, PLDN encodes pallidin, a member …
15 Ways Genomics Influences Our World
Genomics helps us understand evolution and protect our biological ecosystems.
… studies are allowing us to appreciate the complex interactions of our world as never before. …
Staff
Dr. Donna Messersmith is a provider education specialist in the Education and Community Involvement Branch at the National Human Genome Research Institute.
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
For Health Professionals
The ISCC-PEG Pharmacogenomics (PGx) Project Group has developed peer-reviewed online education for healthcare practitioners to advance pharmacogenomics in clinical practice.
… evidence-based pharmacogenomic resources from the Food and Drug Administration (FDA), the Clinical Pharmacogenetics … safety of psychiatric medications as well as the impact of drug-drug interactions (phenoconversion) through case-based activities. …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… (Alliance), Model Organism Databases (MODs), and the Gene Ontology (GO) Consortium is to develop and maintain … The Model Organism Databases and Gene Ontology (GO) Consortium resources serve as well-curated … gene expression, and both protein–protein and genetic interactions. Given the significant use of these resources, …
Outreach
A list of high quality educational activities to engage students on DNA Day.
… a playful animation about the genome and environment. The Gene: An Intimate History from PBS, Ken Burns in the …