Cystic Fibrosis service
This clinic provides comprehensive outpatient care for all aspects of cystic fibrosis, through a diagnostic and consultative multidisciplinary ongoing care framework.
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Health professionals
Connecting health professionals with clinical services, care navigation and evidence-informed clinical guidance.
At Rare Diseases NSW, we are committed to providing comprehensive, multidisciplinary care for individuals with rare and undiagnosed diseases. Our research-enabled model of care brings together clinical expertise, care coordination and support across the health system.
Diagnostic services
Timely diagnosis can help people and families access the right care, information and support.
Rare Diseases NSW is committed to leveraging cutting-edge genomic and ‘multiomic’ technologies for the timely diagnosis of rare diseases. This service is facilitated through the Centre of Clinical Genetics (CCG) at Sydney Children’s Hospital, Randwick. The CCG comprises a multidisciplinary team including clinical geneticists, genetic counsellors, nurse practitioners and specialists. This integrated approach ensures that genomic approaches are central to care provision, from diagnosis to treatment planning.
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Connected diagnosis
Genomic approaches are integrated into care to help guide the next steps for patients and families.
Research and connection
We’re dedicated to helping families navigate the complexities of rare genetic conditions, including linking into the global ‘brains trust’. The Gene2Care program connects families with research opportunities and valuable resources tailored to their unique needs. With GeneSTART, our rare disease genetic registry, families can securely share and access vital information, connecting with others on similar journeys. For patients who do not yet have a clear genetic diagnosis, the SCHN GeneAdd undiagnosed disease program allows access to cutting-edge research that can provide answers.
Visit Gene2Care webpageMultidisciplinary clinics
Across the Randwick Health and Innovation Precinct (RHIP) , numerous multidisciplinary teams of specialists, general practitioners, genetic counsellors and nurses work collaboratively to provide integrated care for people living with rare diseases. Having multiple experts working together means these clinics can offer a more holistic and efficient care experience, making it easier for patients and their families to manage complex health needs. Across the network, we are working to address the challenges of transitioning to adult care and ensure a whole-of-life approach.
This clinic provides comprehensive outpatient care for all aspects of cystic fibrosis, through a diagnostic and consultative multidisciplinary ongoing care framework.
Visit pageA multidisciplinary service for paediatric patients across NSW and the ACT, including comprehensive admissions from birth, through to transition to adult care.
Visit pageProvides consultation and continuing care for children with muscle and nerve conditions. The service includes diagnosis, management and genetic counselling.
Visit pageThe Hearing Support Service is a multidisciplinary clinic that provides services for children and babies who have a recent diagnosis of permanent hearing loss.
Visit pageA multidisciplinary team involved in the care of children with kidney diseases and urinary tract problems.
Visit pageLed by Professor Arun Krishnan, the comprehensive Nerve and Muscle Clinic at Prince of Wales Hospital sees patients with a wide range of neurological conditions, including rare conditions.
Visit pageProfessor Carolyn Sue is the founder of the Australian Mitochondrial Centre at Neuroscience Research Australia, Randwick. The website will be live soon.
Visit pageThe metabolic genetics clinic at Sydney Children’s Hospital provides comprehensive care for patients with a wide range of genetic metabolic conditions.
Visit pageA complete range of specialist services for the comprehensive management of all craniofacial conditions. Care plans are individualised to the patient and reflect the parents’ preferences and the surgeons’ experiences.
Visit pageDr Susan Adams leads a multidisciplinary clinic for vascular malformations for both children and adults. Contact details can be found on the Australasian Vascular Anomalies Network website.
Visit pageProvides multidisciplinary consultation and support for individuals with Kleefstra syndrome and their local clinicians across Australia. For information, contact Clinical Nurse Specialist Eleanor.
Email the clinicA clinic for children and young people who have a congenital limb difference, limb malformation or amputation. The clinic offers information, assessment, management and support.
Visit pageSydney Children’s Hospital, Randwick, is home to Australia’s only paediatric multidisciplinary OA-TOF clinic. Established in 2011, the clinic has contributed to advances in management and outcomes for children with OA-TOF.
Visit pageA specialist team including a neurologist, nephrologist, geneticist, genetic nurse, dermatologist and developmental paediatrician with extensive knowledge of tuberous sclerosis and its complications.
Email the clinicA multidisciplinary clinic including neurologists, developmental paediatricians, sleep physicians, psychiatrists and clinical geneticists, as well as a dedicated clinical nurse specialist. The clinic also supports innovative clinical trials and research.
Email the clinicClinical guidelines
Explore clinical guidelines relevant to the diagnosis, treatment and care of people living with rare conditions. Rare Diseases NSW links to the organisation responsible for each guideline so health professionals can access the current guidance and associated resources at the source.
UNSW Sydney
Guidelines for Australia and New Zealand
This guideline provides advice and information for people involved in screening, diagnosing and caring for children and their families through newborn screening for spinal muscular atrophy (SMA).
It reflects the healthcare journey of a child who screens positive for SMA through newborn screening in Australia and New Zealand, bringing together guidance across the pathway from screening through to diagnosis, care, treatment and family support.
The guideline covers
Growing collection
We will continue to signpost relevant rare disease clinical guidelines and authoritative resources as they become available.