Registry to uncover genetic cause of rare diseases

Article submitted by: Garvan Institute of Medical Research

Researchers at the Garvan Institute of Medical Research are recruiting Australians with a known or suspected rare genetic disease to help improve diagnoses and treatment options for these conditions.

There are more than 7,000 known rare diseases and an estimated two million people live with a rare disease in Australia alone. Less than half of them receive a genetic diagnosis, and targeted treatments are only available for fewer than 10 per cent of patients.

“Most rare diseases are overlooked and under-researched, and the journey to a diagnosis can be long and arduous, with patients and families navigating multiple specialist visits and tests that often yield no conclusive results,” says Associate Professor Siggs, Co-Director of the Genomics and Inherited Disease Program at Garvan. “Many people with inherited diseases are suffering unnecessarily because they don’t have a genetic diagnosis. If we can get them an answer today, in some cases that can lead to a curative treatment tomorrow.”

“Understanding the genetics of a rare disease can be transformative for patients,” says Co-Director Associate Professor Ingles. “An example is inherited heart conditions referred to as cardiomyopathies — where understanding the genetic basis is helping to drive new therapies. We are working towards a future where every rare disease can be diagnosed and treated.”

The registry will gather information from Australians who have a rare disease with a known or suspected genetic cause, as well as information from their family members.

Participation in this research involves completing a 15-minute survey, providing consent to researchers accessing medical records, and providing consent to being contacted about new research opportunities. More information about the registry can be found here.