Research Publications
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Carl A, Bothwell S, Swenson K, Bregante R, Cohen L, Cover V, Dawczyk A, Decker G, Gerken SB, Hong D, Howell S, Raznahan A, Rogol AD, Tartaglia N, Davis S. Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Methods, and Diagnostic Characteristics for the GALAXY Registry. Am J Med Genet A. 2026 Jan;200(1):23-34. doi: 10.1002/ajmg.a.64214. Epub 2025 Aug 13. PMID: 40799057.
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.