Identification of a rare inherited condition with Dr Jo Murray, Wednesday 28 Feb

Identification of a rare inherited condition that leads to infant death through severe lung disease with Dr Jo Murray, Wednesday 28th February 2024. Doors open 7:15pm, talk starts at 8:00.
NB This event is at the Wagner Hall, details below.
When two baby girls in a Dutch family died suddenly of lung failure paediatricians suspected a genetic cause. This led to an international collaboration between clinicians, geneticists and other discovery scientists. Together, we identified the defective gene and predicted it would lead to misfunctioning of the SMC5/6 complex. This is a group of proteins required for accurate copying and repair of our DNA. My lab has a long-term interest in SMC5/6 and we were able to build a picture of what is happening in the patients’ cells.
Jo Murray is a geneticist who runs a lab at the Genome Damage and Stability Centre at the University of Sussex. This is a research centre investigating the responses of cells to DNA damage and the relationship to cancer and other aspects of human disease. She is interested in how cells deal with problems that occur during replication, the copying of the DNA, and the consequences of mis-regulation for genome instability and cancer. Her lab focuses on the Smc5/6 complex and how this coordinates the recovery of replication with repair of DNA damage.