Center of Excellence for RNUopathies at Mount Sinai

1428 Madison Avenue, Atran Building, 1st Floor

New York, New York, 10029

+1 212 241 4709

mountsinai.org/care/genetics | indeedstudy.org

Clinical Leads:

Mafalda Barbosa, MD, PhD, FACMG | Assistant Professor | Division of Medical Genetics and Genomic Sciences | Department of Genetics and Genomic Sciences | Icahn School of Medicine at Mount Sinai | mafalda.barbosa@mssm.edu

Family Contacts:

Ashley Daniels | Clinical Administrative Coordinator | MSSMclinicalgenetics@mssm.edu

Zafiirah Baurhoo | Associate Researcher in Genetics and Genomic Sciences | zafiirah.baurhoo@mssm.edu

Mission, Vision, Purpose:

The Center of Excellence for RNUopathies at Mount Sinai provides comprehensive, multidisciplinary, and lifespan-oriented care to individuals affected by ReNU syndrome, ReNU2 syndrome and other RNUopathies. Our Center integrates clinical excellence, translational research, and family-centered care.

• Deliver coordinated, evidence-based multidisciplinary care tailored to each patient.

• Advance scientific understanding of RNU gene-mediated neurodevelopmental disorders.

• Facilitate early genetic diagnosis and variant interpretation.

• Provide longitudinal care from infancy through adulthood.

• Ensure structured pediatric-to-adult transition planning.

• Seamless articulation with research initiatives. • Serve as a national and international referral center.