1300 York Avenue
New York, NY10065
+1 212 342 6867
🗂️ Intake Coordinator:
Alexandria Chilimidos, MS, CGC | Genetic Counselor | ac6358@cumc.columbia.edu
🩺 Clinical Leads: In collaboration with
Jennifer Bain, MD, PhD | Associate Professor of Neurology and Pediatrics | jb3634@cumc.columbia.edu
Alexandria Chilimidos, MS, CGC | Genetic Counselor | ac6358@cumc.columbia.edu
🏥 Multidisciplinary Care Team:
Cardiologist
Developmental or neuro-psychologist
Diet and Nutritionist
Endocrinologist
Epileptologist
Gastroenterologist
Genetic Counselor
Metabolic specialist
Neurologist
Pediatrician
Physical therapist
Sleep specialist
Urologist
🔬 Center Focus:
Clinical
Research
🔄 Supports Pediatric Transition to Adult Care:
Yes
👤 Patient Population:
No minimum patient age
Pediatric
Adolescent
⭐ Mission, Vision, Purpose:
Our mission is to establish a world-leading hub for RNU4-2 syndrome care, uniting the clinical excellence of the New York Presbyterian Hospital System at both Columbia and Weill Cornell that will allow multidisciplinary connections working in parallel at two renowned sites. We aim to pioneer collaborative research and targeted clinical care to drive the rapid discovery of underlying mechanisms and precision treatments for RNU4-2 syndrome. Our center will include Neurologists, Epileptologists, Geneticists, Genetic counselors, Gastroenterologists, Cardiologists, Endocrinologists, Developmental Pediatricians, Physical Therapists, Urologists, and sleep specialists.
