The heritable condition called Fanconi anaemia predisposes to early onset solid cancers and bone marrow failure. Fanconi anaemia is a DNA repair disorder and cells from patients can sometimes “rescue” themselves genetically to restore blood production. I will describe a newly identified mechanism, allelic rescue mosaicism, in which an extra parental allele restores function without correcting the original mutation. This arose early in embryonic development, creating mosaicism across all tissues, with restored DNA repair alongside classical FA cells. Selection favoured the rescued cells in sensitive tissues like blood and oral mucosa. These findings reveal a new model of genetic rescue and suggest similar embryonic events may influence outcomes in other inherited diseases.

About the speaker: Associate Professor Wayne Crismani is a researcher based at SVI whose work focuses on the biology and genetics of Fanconi anaemia. His research spans DNA repair, genomic instability, and reproductive biology, with a particular interest in how genetic variation influences disease outcomes. He has contributed to seminal studies ranging from the basic biology of inheritance to patient-focused clinical questions, and collaborates internationally with clinicians, scientists, and patient advocates. His work aims to bridge fundamental biology with translational insights to improve understanding and management of inherited cancer predisposition and bone marrow failure syndromes.

Tuesday 28 April

12.00pm

ACMD Auditorium

L1 27 Victoria Parade

Fitzroy