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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
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… findings. When Down syndrome is suspected in a person, a genetic test called a chromosome analysis is performed on a … of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra … An unaffected person can carry a rearrangement of genetic material between chromosome 21 and another …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in … bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, … in the section has been to discover the causes of genetic diseases. Over the years, section members have …
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, …
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… developed with input from an editorial board of nurses, genetic counselors, physicians, physician assistants and … for Molecular Pathology , the National Society of Genetic Counselors , the American College of Clinical … including: Genomic Technologies for Oncology Researchers Genetic Testing Registry Training Residents in Genomics …
Research at NHGRI
An international investigation into the genetics of severe acute malnutrition in children.
… skew heavily to represent individuals of European ancestry ( GWAS Diversity Monitor 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 …
Event
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… … Panelists … Contacts … Virtual … Webinar: Ancient Genetic Clues into Modern Human Disease … Enter text here …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… Genome sequencing reveals genetic basis for disabling pansclerotic morphea, a severe … to reduced mobility. Because the disorder is so rare, its genetic cause had not been identified until now. “Researchers … NHGRI and NIH … NIH scientists find treatment for rare genetic skin disorder … Researchers at the National …
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 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 …