Sydney Children’s Hospitals Network (SCHN) & Rare Diseases NSW
🗂️ Intake Coordinator:
Rebecca Vink | Genetic Counsellor | Centre for Clinical Genetics, Sydney Children’s Hospitals Network | rebecca.vink@health.nsw.gov.au
🩺 Clinical Lead:
A/Professor Elizabeth Palmer | Clinical Geneticist | Sydney Children’s Hospitals Network & UNSW Sydney
🏥 Multidisciplinary Care Team - in development:
Cardiologist
Dentist
Dermatologist
Developmental or neuro-psychologist
Diet and Nutritionist
Endocrinologist
Epileptologist
Feeding therapist
Gastroenterologist
Genetic Counselor
Metabolic specialist
Neurologist
Occupational therapist
Ophthalmologist
Orthopedics
Otolaryngologist
Pediatrician
Physical therapist
Sleep specialist
Speech pathologist / therapist
Urologist
🔬 Center Focus:
Clinical
Research
🔄 Supports Pediatric Transition to Adult Care:
Yes
Mission, Vision, Purpose:
We are building a Centre of Expertise for RNUopathy neurodevelopment disorders that will ensure every individual and family living with these rare conditions receives timely diagnosis, wrap-around evidence-based care, and equitable access to research, clinical trials and advanced therapies — in genuine partnership with families. The Centre is aligned with the Rare Diseases NSW Care, Connect, Cure framework, the Australian National Strategic Action Plan for Rare Diseases, and current national recommendations for rare disease healthcare.
Care — Coordinated, multidisciplinary, person- and family-centred care, grounded in the latest evidence and best practice for ReNU with clear pathways across primary, specialist and community settings.
Connect — Connecting families to one another, to expert clinicians, and to the services they need; and connecting health professionals to the education, peer support and resources required to confidently care for people with ReNU conditions.
Cure — Opening pathways to research participation, natural history studies, clinical trials and emerging advanced therapies, so progress in science translates into real and timely benefit for families. We are committed to co-design with lived-experience partners, cultural safety and equity, and seamless collaboration across state, federal and international systems — so that no family with ReNU will navigate the system alone.
