Primary organisation: Garvan Institute of Medical Research (Garvan)
Principal Investigator: Professor David Thomas
Flagship requested: Acute care, Brain malformations, Epileptic encephalopathy, Genetic immunology, Leukodystrophies, Mitochondrial disorders
Co-applicants: Dr Swetansu Pattnaik (Garvan), Piyush Mundra (Garvan), Dr Mandy Ballinger (Garvan)
Approval date: September 2021
Applicant’s project summary:
Sarcoma is a rare and complex cancer with poor prognosis and survival. While existing genetic studies in cancer have focused on common cancer types such as breast cancer, we have endeavoured to uncover the underlying genetics of sarcoma by establishing the International Sarcoma Kindred Study (ISKS) consortium. Under ISKS, we have curated a cohort of more than 3,400 sarcoma families across 23 centres in 7 countries. The goal is to better inform standard clinical care of sarcoma. We have performed whole genome sequencing (WGS) on 1,644 ISKS cases, 3,611 healthy controls and have developed a novel methodology to determine key genetic pathways implicated in sarcoma. Our analysis has revealed novel genetic signatures which will be validated in an independent study with a sarcoma cohort of 800+ cases already acquired. We now require non-cancer control WGS datasets. With independent validation of the results, we aim to expedite their clinical use.