Diseases Studied
The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Sex chromosome aneuploidy
Sex chromosome aneuploidy
Disease Category: Sex Chromosome Aneuploidy
Sex Chromosome Aneuploidies (SCA) are called many different names, such as sex chromosome disorders or X&Y chromosome variations, however these names all describe a group of conditions in which an individual has either extra or missing X and / or Y chromosomes present in the cells of their body. This group of conditions affects both males and females and may present with significant variability depending on genetic and individual characteristics. Below is a list of conditions that are being researched by the Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR) consortium. The NASCARR consortium is dedicated to improving the lives of individuals with sex chromosome aneuploidies through innovative research, clinical expertise and education through collaborations between scientists, health care providers, and patient advocacy organizations.
Research groups studying this disease
Sex Chromosome Aneuploidy
Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR)