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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 the August 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes Marcus G. Hodges as the new Intramural Training Office Director.
… is a type of AI that can be used to study some genetic conditions that have characteristic facial features. The … did not affect the AI tool’s ability to identify other conditions that are not associated with a happy demeanor. …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
The Genomics Landscape
In the November 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the History of Genomics Program, which has long worked to make various materials related to the history of genomics accessible to the public.
… as sickle cell disease and cystic fibrosis. However, some conditions are caused by genomic variants residing in regions … been developed to study these regions, and thus, these conditions can be far more challenging to detect and … that could benefit patients with a variety of genetic conditions involving non-coding DNA.  This research was …
File
… Carsten Bonnemann , Senior Investigator, Neuromuscular & Neurogenetic Disorders Of Childhood Section, NINDS 9.15 - …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
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 …
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. …