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… Carsten Bonnemann , Senior Investigator, Neuromuscular & Neurogenetic Disorders Of Childhood Section, NINDS 9.15 - …
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 …
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 …
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 …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.