Services – Rare Diseases NSW

Our Approach to Care

At Rare Diseases NSW, we are committed to providing comprehensive, multidisciplinary care for individuals with rare and undiagnosed diseases. We are growing our team of healthcare professionals to include care coordination nurses, clinical specialists, genetic counsellors, general practitioners, psychologists, social workers and allied health therapists , all dedicated to improving health outcomes and reduce the burden of fragmented healthcare.

You can learn more about our unique research-enabled model of care on our About Us page, or keep reading to find out about our clinical services.

Diagnostic Services

Rare Diseases NSW is committed to leveraging cutting-edge genomic and ‘multiomic’ technologies for the timely diagnosis of of rare diseases, facilitated through the Centre of Clinical Genetics at Sydney Children’s Hospital, Randwick. The CCG comprises a multidisciplinary team including clinical geneticists, genetic counsellors and nurse practitioners and specialists. This integrated approach ensures that genomic approaches are central to care provision, from diagnosis to treatment planning.

Gene2Care Pilot program

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.

Multidisciplinary clinics

At Rare Diseases NSW, our multidisciplinary team of specialists, general practitioners, genetic counsellors, and nurses work collaboratively in a single location to provide integrated care. This centralised approach significantly reduces travel time for patients and ensures seamless coordination among healthcare professionals. By having all experts under one roof, we can offer a more wholistic and efficient care experience, making it easier for patients and their families to manage complex health needs.

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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Epidermolysis bullosa services

A multidisciplinary service for paediatric patients across NSW and the ACT, including comprehensive admissions from birth, through to transition to adult care.

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Neuromuscular Services

Provides consultation and continuing care for children with muscle and nerve conditions. The service includes diagnosis, management and genetic counselling.

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Genetic Hearing Condition Clinic

The Hearing Support Service is a multidisciplinary clinic that provides services for children and babies who have a recent diagnosis of a permanent hearing loss.

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Genetic Kidney Condition service

A multidisciplinary team involved in the care of children with kidney diseases and urinary tract problems.

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Nerve and Muscle Clinic

Led 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.

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Australian Mitochondrial Centre

Professor Carolyn Sue is the founder of the Australian Mitochondrial Centre at Neuroscience Research Australia, Randwick. The website will be live soon.

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Metabolic Genetics Clinic

The metabolic genetics clinic at Sydney Children's Hospital provides comprehensive care for patients with a wide range of genetic metabolic conditions.

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Craniofacial service

A 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.

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Vascular Anomalies Multidisciplinary team

Dr 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 (AVAN) website.

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Kleefstra Syndrome Clinic

Provides multidisciplinary consultation and support for individuals with Kleefstra syndrome and their local clinicians across Australia. For information contact Clinical Nurse Specialist Eleanor.

Limb Management Service

A clinic for children and young people who have a congenital limb difference, limb malformation or amputation. The Clinic offers information, assessment, management and support for children, young people and their families.

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Oesophageal atresia and/or Tracheo-oesophageal fistula clinic (OA-TOF)

The Sydney Children’s Hospital, Randwick, is the home to Australia's only pediatric, multidisciplinary OA-TOF clinic. Established in 2011, and the work of its clinicians has led to numerous advances in the management and outcomes for children with OA-TOF.

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Tuberous Sclerosis Clinic

A specialist team including a neurologist, nephrologist, geneticist, genetic nurse, dermatologist and developmental paediatrician with extensive knowledge of tuberous sclerosis and its complications.

For information contact Clinical Nurse Specialist Eleanor.

Angelman Syndrome Clinic

The Angelman Syndrome Clinic is a 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. For information contact Clinical Nurse Specialist Eleanor.Email

Care Navigation

Rare Navigator Pilot program

This three-year pilot project, funded by the Department of Health, is in partnership with Rare Voices Australia and SCHN to support more vulnerable families. It focuses on nurse-led navigation and social work support to guide families through the complexities of the healthcare system

Kids GPS and Telekids

These SCHN programs help regional and rural families reduce travel time associated with multiple hospital visits and help to link care with local care teams.

Advanced Therapeutics

At Rare Diseases NSW, we’re working hard to find new and better treatments for rare diseases. With strong support from national research organisations, our team of experts is focused on creating personalised medicine plans that are just right for our patients. We use a team approach to connect research with real-world care, so we can quickly move new treatments from the research lab to helping patients.

n=1 Pilot Studies

We also conduct n=1 pilot studies, which are specialised research studies focused on individual patients. These studies help us understand how a treatment works for a specific patient, allowing for even more personalised care.