This project seeks to identify novel genetic causes of a group of rare diseases called inherited bone marrow failure syndromes (IBMFs), conditions where the bone marrow is unable to produce enough red blood cells, white blood cells and/platelets. These diseases can also include congenital abnormalities, development delay and a predisposition to solid tumours.
Currently only about half of cases have a known genetic cause required for a correct diagnosis, prognosis and for making treatment choices. Moreover, there is no standardised or subsidised genomic testing available in Australia for most patients with IBMFs. Consequently, genomic testing is significantly underutilised in patient care leading to adverse outcomes for patients.
The project will study the genomes of 350 patients with IBMFs to: identify novel causes of these diseases, improve the diagnostic rate, and assess the benefits of providing genomic testing to all patients with the condition.
Dr Piers Blombery