6th SLHD Precision Medicine Annual Scientific Meeting 2026: Rare Diseases in Adults – Advancing Care Through Precision Medicine

Rare diseases are at the frontier of precision medicine, where genomics, bioinformatics, clinical expertise and research come together to address some of healthcare’s most complex challenges.

Precision medicine is transforming healthcare by moving beyond a one-size-fits-all approach towards care informed by an individual’s genomic, biological and clinical characteristics. Bioinformatics supports this work by helping interpret increasingly complex genomic and health data, alongside the clinical, laboratory and health service systems needed to translate these insights into patient care.

The Sydney Local Health District Institute of Precision Medicine & Bioinformatics brings together clinical expertise, genomics, bioinformatics, research and health service innovation to translate scientific advances into real-world healthcare.

Their 6th Annual Scientific Meeting, themed Rare Diseases in Adults – Advancing Care Through Precision Medicine, will bring together leading clinicians, researchers, consumers, carers and members of the rare diseases community to examine how precision medicine can help reshape the diagnosis, treatment and long-term care of people living with rare disease.

Featured presenters include

• Professor Adam Jaffe – Chair, Rare Diseases NSW will deliver the keynote address. Professor Jaffe is John Beveridge Professor of Paediatrics and Head of Discipline, Paediatrics and Child Health, UNSW Sydney; and Paediatric Respiratory Consultant, Sydney Children’s Hospital, Randwick. He will provide an overview of the rare disease landscape in NSW and consider future directions for rare disease care.
• Ms Luba Horder – Parent advocate, bringing an important lived and carer perspective to the challenges, experiences and priorities of families living with rare disease.
• Dr Simone Visser and Ms Tara Freeman – Dr Visser, Staff Specialist Respiratory Physician at Royal Prince Alfred Hospital, and Ms Freeman, Cystic Fibrosis Clinical Nurse Consultant, will share medical and nursing perspectives on the transition from paediatric to adult care, drawing on their experience in cystic fibrosis services.
• Dr Freeman Apou – Genetic Pathology Registrar at Royal Prince Alfred Hospital. Freeman will explore the role of genomic technologies in rare disease diagnosis and care.
• Dr Sharon Sagnella – Head of Research and Development, Department of Cell and Molecular Therapies, Royal Prince Alfred Hospital and Concord Repatriation General Hospital. Dr Sagnella will discuss the role of clinical trials in rare diseases and opportunities to translate emerging therapies into clinical care.

The meeting will conclude with a multidisciplinary panel discussion bringing together clinicians, researchers and consumers to consider how health services can better support people with rare diseases across the life course.

Together, the meeting will connect clinical practice, lived experience, research and emerging technologies to consider how precision medicine can shape the future of rare disease care in NSW.

Visit the website to learn about the SLHD Institute of Precision Medicine & Bioinformatics.