RNUopathies Program
The RNUopathies Program at Mount Sinai provides multidisciplinary care for children and adults with ReNU syndrome, ReNU2 syndromes, and related RNUopathies. RNUopathies are a group of rare neurodevelopmental disorders caused by changes in certain genes that help cells process genetic information correctly.
Our program brings together clinical care, genetic diagnosis, research, and family support to help patients receive coordinated care from infancy through adulthood. The RNUopathies Program at Mount Sinai is part of the ReNU Syndrome United Center of Excellence Network.
As one of the institutions involved in the original description of ReNU syndrome, our Center combines genetics expertise, multidisciplinary care, and research to support patients and families over time.
We care for children and adults with autosomal dominant ReNU syndrome, autosomal dominant and recessive ReNU2 syndromes, autosomal recessive RNU4-2-related neurodevelopmental disorder, and other spliceosomal RNU gene-mediated disorders. Patients with undiagnosed neurodevelopmental disorders suspected to involve small nuclear RNA genes may also be evaluated through the program.
Services We Offer
Our Center provides care tailored to each patient’s needs. Services include:
- Comprehensive genetics evaluation for known or suspected RNUopathies
- Early genetic diagnosis and expert interpretation of genetic findings
- Coordinated care across pediatric and adult specialties
- Ongoing care from infancy through adulthood
- Support for the transition from pediatric to adult care
- Genetic counseling and family support
- Coordination of specialist appointments, including clustered visits for out-of-state families when possible
- Opportunities to connect with research studies and emerging therapeutic developments
Our specialists work closely together to coordinate care across pediatric and adult services, helping families navigate the different aspects of care more easily. We also support the transition from pediatric to adult care so patients can maintain continuity as their needs evolve over time.
Multidisciplinary Care
Depending on a patient’s needs, care may involve specialists in:
- Cardiology
- Endocrinology
- Epileptology and Neurology
- Gastroenterology
- Genetics and Genetic Counseling
- Metabolism
- Orthopedics
- Otolaryngology
- Psychology and developmental support
Research and Clinical Advancement
The Center integrates clinical care with research to advance understanding of RNU gene-mediated disorders and support future therapeutic development. Center leadership is also involved in the INDEED Study, an ongoing Mount Sinai research study focused on understanding the genetic causes of rare and newly discovered diseases, including ReNU syndrome and ReNU2 syndromes.
Current and planned efforts include natural history research and laboratory studies aimed at better understanding these disorders and supporting future progress in diagnosis and care. We also work to keep participating specialists current on developments in the field through regular literature review, multidisciplinary case discussions, and integration of insights from Mount Sinai research programs.
Support for Families
We work closely with families to provide communication, care coordination, genetic counseling, and access to educational resources. We also collaborate with ReNU Syndrome United and other family foundations to help expand awareness, improve access to diagnosis, and enhance care delivery.