Project Aim

The major aims of this project were to provide more than 200 genetic research reports to participants via their nominated clinicians to inform patient management, and to detail by publication the genetic spectrum of inherited retinal disease (IRD) in Australia.

Project Results and Impact

During the grant period (2020), 261 genetic research reports were issued to nominated clinicians to assist with patient management, or to genetic counsellors for counselling/family planning purposes. Of those, 173 reports were issued on behalf of participants affected with an inherited retinal disease (IRD) (age range 5-92 years), and the remaining 88 reports were issued on behalf of family members (carriers and non-carriers of genetic mutations). These reports covered a diverse range of clinical diagnoses and causative genes.

This study provided genetic research reports that were used to assist with patient management, for genetic counselling, and family planning purposes, and the findings were used to inform scientific research into the genetic causes of IRDs in the Australian population. A number of potential candidates for clinical trials, or future therapies arising from these trials, were identified.

Chief investigator:
Jennifer Thompson
The Australian Inherited Retinal Disease Registry & DNA Bank, Perth

Grant awarded:
$40,000 (2020)

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