Medical Genetics Research

NASCARR Study

The Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR) is a national, NIH-funded collaborative focused on improving outcomes for individuals with X and Y chromosome variations. The network brings together clinical centers, researchers, and advocacy groups to advance research and prepare the field for future clinical trials.

Weill Cornell Medicine is an active participating site, contributing patients and clinical data through our Chromosome X & Y Variations Program to support national research efforts and improve care.

GALAXY Registry

The GALAXY Registry is a multi-center research study that collects information from individuals with X and Y chromosome variations, including XXY (Klinefelter syndrome), XXX, XYY, and related conditions. Because these conditions are rare, the registry brings together data from many individuals to better understand health outcomes and improve care.

Weill Cornell Medicine is an IRB-approved enrollment site, allowing families to participate through our clinic or online. Our team works with patients and families to contribute to this growing national resource.

GUARDIAN Study

The GUARDIAN study evaluates the use of genomic sequencing in newborns to identify serious but treatable genetic conditions early in life. The goal is to improve early diagnosis and enable timely care during a critical window of development.

Weill Cornell Medicine recruits families across our main campus and affiliated sites in Brooklyn and Queens, helping expand access to genomic screening and advance early detection of genetic conditions.

Pediatrics Weill Cornell Medicine Appointments & Referrals: (646) 962-KIDS (646) 962-5437 Chair's Office: Weill Cornell Medicine 525 E 68th St.
Box 225
New York, NY 10065 (646) 962-5437