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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 …
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 …
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 …
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.
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. …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… syndrome, as related to genetics, is a group of traits or conditions that tend to occur together and characterize a …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
…  In the past 10 years, the ability to screen for genetic conditions during pregnancy has improved dramatically. …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
…  2017: The FDA approved DTC-GT for certain health-related conditions.  2018: more than 26 million consumers had … provide information about potential risk for some genetic conditions or for being a carrier for certain genetic … time and cost.  Some DTC-GT companies may test for conditions or traits that do not have confirmed clinical …
File
… Carsten Bonnemann , Senior Investigator, Neuromuscular & Neurogenetic Disorders Of Childhood Section, NINDS 9.15 - …