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Getting Answers: The Genomics of Rare Disease

Speaker/s
Associate Professor Owen Siggs and Dr Amali Mallawaarachchi
Date
11:30pm 12 Mar12:30am 13 Mar
(UTC)

Join us for an interactive seminar on one of Australia’s first direct-to-participant registries for rare disease genomics.

The way we treat rare and inherited diseases is on the cusp of a major transformation, with the development of new and effective treatments tailored to individual patients based on their unique DNA sequence. To accelerate genetic diagnoses and fast-track access to treatment, Associate Professor Owen Siggs and Associate Professor Jodie Ingles have launched one of Australia’s first direct-to-participant registries for rare disease genomics.

Speaking at the upcoming seminar, Getting Answers: The Genomics of Rare Disease, will be Associate Professor Owen Siggs who will outline what makes this registry unique and why genomics has the potential to transform healthcare. Dr Amali Mallawaarachchi will present on her experiences as a clinician and her studies on the molecular basis of polycystic kidney disease.

Panel

Associate Professor Owen Siggs

Associate Professor Owen Siggs is co-lead of Garvan’s Rare Disease Program. His interests lie in the genomic architecture of immune and ophthalmic disease and new genomic technologies. As a clinical scientist, he is actively engaged in the translation of these findings into clinical practice, particularly in the area of genomic risk prediction.

In this seminar, Associate Professor Owen Siggs will introduce Australia’s first patient-led Genomics of Rare Disease Registry, which will help advance diagnosis and treatment for this often-overlooked rare disease community. He will outline what makes this registry unique, how it will connect people living with a rare inherited disease, and how it will enable all Australians to benefit from new and emerging technologies that are revolutionising the treatment of these diseases.

Dr Amali Mallawaarachchi

Dr Amali Mallawaarachchi is a clinical scientist whose current research focuses on understanding the molecular basis of polycystic kidney disease through the application of the latest sequencing technologies. Dr Mallawaarachchi will share her experiences as a clinician and researcher, including patient stories and her development of the world-first whole genome sequencing-based diagnostic test for Autosomal Dominant Polycystic Kidney Disease.

I am hopeful that one day, everybody with a rare genetic disease gets a genetic diagnosis. I think it’s possible that this is going to happen within our lifetimes.
Associate Professor Owen Siggs

Location

All seminars take place in the auditorium at Garvan Institute of Medical Research

384 Victoria Street, Darlinghurst NSW 2010Get Directions to here