The March talk will be given by Dr Emma Baple,Â Honorary Associate Professor of MedicalÂ Genetics at the University of Southampton,Â Consultant in Clinical Genetics at University Hospital Southampton and Clinical Lead for Rare Disease Validation and Feedback at Genomics England. Dr Baple will be taling about her research intoÂ characterisation of human developmental disorders andÂ is recognised for her role in the identification of several new such disorders.
Dr Bapleâ€™s main area of research involves the investigation of the molecular causes of inherited conditions, stemming from the identification of the causal disease gene through to more detailed studies of the biological pathway and disease mechanism responsible. She is recognised for her role in the identification of new developmental disorders including HERC2 related Angelman-like disorder (MIM: 615516), PCNA related DNA repair disorder (MIM: 615919) and KPTN related megalencephalic neurodevelopmental disorder (MIM: 615637). Many of the families involved in these studies have been identified as part of a long-running community genetic program based amongst the Amish populations of Ohio (USA), called the Windows of Hope Project. This long-running program established by Professor Andrew Crosby (University of Exeter) works in close partnership with the Amish to identify and better understand the nature and causes of inherited conditions which occur in the community. Dr Baple and Professor Crosby have developed an in-depth knowledge of many Amish inherited conditions, and have been able to significantly improve medical understanding of the clinical and prognostic features of these conditions and hence improve healthcare outcomes for the community. Last year Dr Baple won a young investigator award at the European Society of Human Genetics for a presentation describing some of this work.