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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
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 …
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 …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… now affect 1 in every 150 children in the United States. Statistics from the U.S. Department of Education and other … or there is a family history of relatives with autism, genetic testing such as chromosome analysis and single-gene … and sisters will also have autism depends on the specific genetic cause. Additional Resources for Autism National …
Professional Development Programs
Meeting a JHU/NHGRI Genetic Counseling Training Program graduate will help you learn more about the program and may help when deciding whether to apply.
… Meeting a JHU/NIH Genetic Counseling Training Program graduate will help you … help when deciding whether to apply. … Coursework for the Genetic Counseling Training Program (GCTP) is offered on the … This week's topic is about how to measure the outcomes of genetic counseling and how to use these measures to evaluate …
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 …