Our Consortium
The Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR) includes a plethora of academic centers across North America who share the goals of improving the lives of individuals with sex chromosome aneuploidies by advancing innovative research, clinical expertise and education through collaborations between scientists, health care providers, and patient advocacy organizations.
How NASCARR Can Help Individuals and Families:
- Learn more about sex chromosome aneuploidy conditions including prenatal and newborn screening and testing
- Quickly connect with experts in a NASCARR center in your area who can diagnose and treat sex chromosome aneuploidies
- Learn about treatment options and new research studies for patients with sex chromosome aneuploidies
- Answer questions your physician may have about sex chromosome aneuploidies
- Connect with patient advocacy (support) groups for sex chromosome aneuploidies
How NASCARR Can Help Researchers and Clinicians:
- Dedicated funding opportunities for pilot feasibility grants
- Dedicated career enhancement opportunities for additional training
- Access to the NASCARR Research Support Team (NSRT) including biostatistics, bioinformatics, research design and execution support
- Opportunities for mentorship with experienced researchers and clinical scientists in SCAs
- Opportunities for collaboration with researchers and clinicians nationwide
NASCARR has developed centralized computerized registries with the aim of including patients diagnosed with all types of sex chromosome aneuploidies in North America. As many providers in North America have limited to no experience in caring for patients with rare sex chromosome aneuploidies, centralized registries allow physicians to learn more about the frequency of these diseases, how they present, genotype-phenotype relationships, and the best treatment options.
The centralized registries include two groups of individuals with sex chromosome aneuploidies, 1) The INSIGHTS (Inspiring New Science In Guiding Healthcare in Turner Syndrome) registry, dedicated to girls who have been diagnosed with Turner syndrome, and 2) The GALAXY (Generating Advacements in Longitudinal Analysis in X&Y chromosome variations) registry, dedicated to boys and girls born with extra X and/or extra Y chromosomes. The consortia also aims to identify community priorities from families and individuals affected by all sex chromosome aneuploidies, ensuring research directions and efforts are well aligned with those living with the conditions. Recognizing the variability of how individuals with sex chromosome aneuploidies may be affected by the condition, the consortia lastly aims to develop severity scales and reflective biomarkers that can be utilized in clinical trials for improving treatments and outcomes.