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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… develops due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their interaction … Dr. Daniel Kastner, M.D., Ph.D. News Release : Genetic mystery of Behcet's disease unfolds along the ancient … … Related Articles … Research provides more insight into genetic basis of Behçet's Disease … NHGRI researchers …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Between Diseases … Related Content … Mouse model for rare genetic disease advances understanding of Parkinson's … NHGRI …
Clinical Research
A study for patients with unexpected genetic results
… A new study is recruiting people who received unexpected genetic test results about their risk for cancer, heart disease, and other conditions after having genetic testing done for some other reason. … The Genomic … (GSRP) is a study of people with "secondary results” from genetic testing. Secondary results are unexpected. They are …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Megan Grove @meganegrove Bill Gahl of @UDNconnect : w/ new genetic conditions, finding the 2nd case is rate limiting …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… study shows genotype-first approach uncovers new links to genetic conditions. … National Institutes of Health … to clinical attention,” says Caralynn Wilczewski, Ph.D., a genetic counselor at the National Human Genome Research … Core and first author of the paper. Typically, to treat genetic conditions, researchers first identify patients who …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… heritability from common diseases associated with common genetic variants to rare diseases associated with rare … that are not inherited and instead are due to new genetic mutations and somatic mosaicism. CPHR investigators … at a basic research level, in which investigators use genetic variation to identify pathways that can be targets …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… at NHGRI, where she sees patients with a variety of genetic and metabolic disorders, providing care in both … include expanding the phenotype for rare diseases and genetic syndromes. She is also active in residency education … , Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR. Genetic variants associated with Hermansky-Pudlak syndrome . …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… to 200,000 babies are born with GM1 gangliosidosis, a genetic disorder caused by alterations in the DNA of a single … skills, cognition and communication. Because most rare genetic disorders are due to a single faulty gene, gene … Dr. Tifft hopes to use gene therapy to treat other rare genetic disorders, such as Tay-Sachs disease — a fatal …
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
… Hopkins and institutions that took care of people with genetic conditions. I thought to myself, “This is what I want … allow us to include environmental risk factors in our genetic analyses. Since then, we've identified several … was that we could predict the carriers of the high-risk genetic variant, diagnose and remove their tumors at a very …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
… and uniformity provides an exceptional opportunity for genetic dissection of biological processes, her lab has … lab is focused on three primary regions of canine genetic research: drivers of behavioral and morphological … loci, with a special focus on men of African ancestry. … Ostrander EA, Wang GD, Larson G, vonHoldt BM, …