Leigh completed her undergraduate degree in Biology at the University of Manchester in 2008. She went on to work at Tepnel Pharma Services, where she did contracted genetic research for universities and pharmaceutical companies. After performing varied genetic research for four years, Leigh decided that her real interest lay in human-disease genetics research so, in 2014, she returned to Manchester to complete a PhD.
Five minutes with Leigh Demain...
What does Action on Hearing Loss funding mean to you?
Your funding means that I can perform very in-depth genetic investigations on patients, which are beyond what many healthcare systems provide. This can mean they have a more accurate diagnosis, as well as some peace of mind about how certain aspects of their condition may progress. It is important to me that any research I do has a positive impact on people's lives, as well as developing scientific knowledge.
Why do you work in hearing research?
In developed countries, genetic causes may be responsible for up to 50% of cases of hearing loss. Some of the mechanisms behind this are poorly understood and many of the genetic causes of hearing loss have not been identified. Identifying new genes that cause hearing loss can improve genetic diagnosis and may reveal new ways to treat hearing loss.
I believe that every person with hearing loss needs an accurate diagnosis so that they can manage their condition: genetic testing is crucial to this. For me, this makes hearing research an exciting, rapidly expanding field. I have the opportunity to have a positive impact on the lives of people with hearing loss.
What do you hope your research will achieve?
Many of the genes implicated in Perrault syndrome are involved in mitochondrial function (mitochondria are small structures in cells which provide much of the energy for them to function correctly).
Mitochondrial dysfunction has been associated with hearing loss in many conditions, but the mechanisms behind this are poorly understood. I hope that studying the genes that cause Perrault syndrome will give us a better idea of how mitochondrial dysfunction can cause hearing loss, and possibly design new drugs to treat hearing loss. Perrault syndrome is often difficult to diagnose, so I hope that by identifying new genes it will also make it easier and much quicker to diagnose Perrault syndrome in patients.
Find out more about Leigh Demain's research project.