Search Results
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
Profile
Dr. Joan Bailey-Wilson, who retired in September 2022, looks back on her 42-year career as a scientist and reflects on the rapid growth of the genomics field.
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… disrupt sperm production, and thus these palindromes could influence fertility. With a complete Y chromosome sequence, …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
Research Funding
Expired Funding Opportunity Announcements dating back to 1994, including Requests for Application, Program Announcements and Notices.
… Trial Not Allowed) RFA-HG-20-044 : Defining Genomic Influence on Gene Network Regulation (U01 Clinical Trial Not …
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… genetics and health, including how these descriptors influence minority health and health disparities research. …
News Release
Genome: Unlocking Life's Code exhibition is going on tour after having completed a 14-month engagement at the Smithsonian's National Museum of Natural History.
… to learn how genetic, environmental and random factors influence risk for a particular disease.  Connections: …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… disease. "It's still an open question as to how much influence mutations in non-coding elements that regulate gene …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes, centers, and offices (ICOs) on the investigator-initiated ELSI Research Grants (R01, R21, R03). Program Officer(s) contact information is also included for each ICO.
… the Macro-Level  This area of ELSI research explores the influence, relationships, and interactions within and among … views. Research in this area could examine macro-level influence, relationships, and interactions related to 1) the … portray genomics for themselves and others. May include influence or approaches by scientific or trade journals, news …