New research from the Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR). This summary is based on a paper published in the American Journal of Medical Genetics in January 2026 titled "Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Methods, and Diagnostic Characteristics for the GALAXY Registry." 

Read the paper here. 

Learn more about NASCARR. 

Transcript: 

New research from the Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR), a research group of the Rare Diseases Clinical Research Network.

Creating a Patient Registry to Improve Health Outcomes for Individuals with Sex Chromosome Aneuploidies.

This summary is based on a paper published in the American Journal of Medical Genetics in January 2026.

Sex chromosome aneuploidies (SCAs) are 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. Although SCAs are the most common chromosomal abnormality, they are often underdiagnosed. Research in SCAs has been limited by over-representation of more severely impacted individuals in clinical studies, as well as low geographic and demographic diversity.

In this study, researchers partnered with the SCA community to create a patient registry to improve health outcomes for individuals with SCAs. The Generating Advancements with Longitudinal Analysis in X and Y variations (GALAXY) Registry helps advance SCA research by collecting, storing, and analyzing clinical data from SCA patients.

To date, GALAXY includes hundreds of participants with a verified diagnosis of SCA. Next, researchers plan to recruit more individuals from underrepresented groups, extract medical record data into the registry, expand internationally, and continue to engage with the SCA community. Authors note that the GALAXY Registry is a powerful resource for future patient-centered clinical research.