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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.
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… and develop. Variations in our genes can cause medical conditions and may be the reason why some people get sicker …
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
… developing methods for mapping disease genes and studied conditions such as kidney failure and diabetes. Some high … where he developed genomic technologies and studied conditions such as kidney failure, HIV/AIDS and diabetes. …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
File
… Carsten Bonnemann , Senior Investigator, Neuromuscular & Neurogenetic Disorders Of Childhood Section, NINDS 9.15 - …
Research Funding
The E​MERGE Network develops, disseminates and applies approaches to research that combine biorepositories with electronic medical record systems.​
… Retrospective/AnVIL cloud integration Phenotyping conditions of outcome interest Provider Uptake & Outcomes … whether genome informed risk assessments for select conditions can be generated reliably across diverse … polygenic risk scores (PRS) in diverse populations for 10 conditions, combine PRS results with family history and …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
FAQ
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021, RFA-HG-24-022, and RFA-HG-24-023. These FAQs contain questions answered during that webinar.
… initiatives that focus on Tier 1 genomic applications/conditions. How does this impact the NOFOs (if at all), which … of evidence generation and uptake. The current Tier 1 conditions (hereditary breast and ovarian cancer or HBOC, … than is necessary for returning results on the limited 4-7 conditions specified, how will the data from WES be managed? …
Educational Resources
A family history is a record of medical information about an individual and their biological family.
… to medicine, is a record of the diseases and health conditions of an individual and that person’s biological … of having or developing certain diseases, disorders or conditions. It is often recorded by drawing a pedigree (a …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… role. Autism is one of a group of related developmental conditions sometimes called the autism spectrum that affect …