Harnessing Somatic Genetic Rescue for Gene Discovery and Novel Avenues of Therapy in Inherited Bone Marrow Failure 

2026–2029 (General Fellowship): Harnessing Somatic Genetic Rescue for Gene Discovery and Novel Avenues of Therapy in Inherited Bone Marrow Failure. Dr Parvathy Venugopal, Adelaide University. 

Inherited Bone Marrow Failure Syndromes prevent the body from producing enough healthy blood cells, which can cause anaemia, infections and bleeding disorders, as well as an increased risk of blood cancer. These conditions are caused by inherited genetic changes, and bone marrow stem cell transplantation is currently the only curative treatment. However, transplantation relies on finding a suitable donor and carries a risk of serious complications. 

In some patients, the disease-causing genetic change is spontaneously corrected in a small number of blood cells, sometimes resulting in milder symptoms or an improvement in their condition. Dr Parvathy Venugopal will use knowledge of this natural process, known as somatic genetic rescue, to help identify previously undetected genes and genetic variants. Newly identified variants will be tested using blood stem cell models to confirm their role in disease. 

Confirmed disease-causing variants could be promptly added to diagnostic testing panels, helping provide clearer answers for patients and families. The project will also develop a gene-editing technique that mimics this naturally occurring correction, laying the foundations for a new, minimally invasive therapeutic approach.