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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
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… multi-disciplinary research team where she draws upon her genetic counseling training and over a decade of behavioral … questions related to the practice of clinical genomics and genetic counseling. Her work in this area has included … behavioral constructs such as the psychosocial impact of genetic disease, patient attitudes and beliefs, …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… on translational research determining the effect of genetic variation on gene function and identifying primary … process for FDA approval. In the context of complex genetic disease, Dr. Erdos is using multi-omics analyses to … Type 2 Diabetes (AMP-T2D) consortium. … The application of genetic, genomic and functional biology approaches are …
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 … to these diseases. She and her team harnessed the power of statistics and computational techniques to show that genetics …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… How to solve this dilemma? Evaluating all potential genetic features of inherited diseases by sequencing the genetic code is a powerful solution to confront the … patient's information upfront in an effort to decide which genetic test or panel to order. "Having a patient's genome …
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 …
Research at NHGRI
An international investigation into the genetics of severe acute malnutrition in children.
… 2023 ). This lack of diversity fails to capture novel genetic variants and unique patterns of admixture in African … and other diverse ancestry populations who harbor the most genetic diversity. This can potentially lead to ambiguous genetic results in both research and clinical testing. Upon …
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 …