Mount Sinai
RNUopathies Program
1428 Madison Avenue, Atran Building, 1st Floor
New York, New York, 10029
+1 212 241 4709
🗂️ Intake Coordinators:
Ashley Daniels | Clinical Administrative Coordinator | MSSMclinicalgenetics@mssm.edu
Zafiirah Baurhoo | Associate Researcher in Genetics and Genomic Sciences | zafiirah.baurhoo@mssm.edu
🩺 Clinical Lead:
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
🏥 Multidisciplinary Care Team:
Cardiologist
Developmental or neuro-psychologist
Endocrinologist
Epileptologist
Gastroenterologist
Genetic Counselor
Metabolic specialist
Neurologist
Orthopedics
Otolaryngologist
🔬 Center Focus:
Clinical
Research
🔄 Supports Pediatric Transition to Adult Care:
Yes
⭐ 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.
