Dr Emma Baple and Professor Andrew Crosby
Researchers win Medical Research Foundation’s Changing Policy and Practice Award
Two University of Exeter researchers have won a prestigious award, to help fund work to improve the accuracy of genetic testing in epilepsy.
Dr Emma Baple and Professor Andrew Crosby have been awarded the Changing Policy and Practice Award by the Medical Research Foundation. The award which comes with a £30,000 fund will be channelled towards developing new genomic data sharing tools, platforms and policies to aid the diagnosis and treatment of patients with genetic forms of epilepsy.
The award recognises the team’s genetic research studies, working with the Amish community in Ohio. Through this work, they found that a previously identified association between the SCN9A gene and epilepsy, did not exist, leading to the recommendation to remove it from the genes known to be linked to epilepsy and used in diagnosis decisions. However, many genetic testing providers still include SCN9A in their tests, so the team will use this new funding to develop new genomic data sharing tools, platforms and policies. This will improve the accuracy of gene panel development practices, aiding diagnosis and treatment for patients with epilepsy.
Dr Baple said: “We’re enormously grateful to the Medical Research Foundation for their continued recognition of the importance of our work and the immense value of funding research disseminationn activities that catalyse immediate and effective translation of research findings into improvements in clinical care and changes in healthcare policy and practices.”
Professor Crosby said: “We’re delighted to receive this 6th successive award from the MRF, which exclusively supports the dissemination of Medical Research Council-funded research. The research underpinning this funding stems from our work of more than 22 years in defining the causes of rare genetic diseases in communities such as the Amish, to deliver impacting medical, social and economic benefits for patients and families affected by rare disease regardless of their ancestral or geographical background.”
Date: 15 February 2022