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Joseph Bateman awarded funding to study rare genetic disease

Posted on 14/03/2017
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Dr Joseph Bateman from the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King’s College London has been awarded a $484,000 grant from the US Department of Defense for a study into Tuberous Sclerosis Complex, a rare genetic disease.

TSC causes benign tumours in several different organs, including the brain, and can begin in early childhood.

TSC is caused by mutations in the genes TSC1 and TSC2. Some of the most debilitating symptoms for patients with TSC are those that are associated with the brain, such as frequent seizures, epilepsy, autism and intellectual disability. There is currently no cure for TSC and the symptoms associated with the brain are some of the hardest aspects of the disease to treat.

Dr Bateman’s lab recently identified a new gene, called Unkempt, which works together with the TSC1/2 genes to control how nerve cells develop in the brain. The project will analyse the chemical changes that occur in Unkempt in human cellular models of TSC. It will also study a novel mouse model that lacks the Unkempt gene in developing nerve cells in the brain. In addition, Dr Bateman’s team will test whether compensating for the lack of Unkempt activity can prevent the neurological problems that develop in a mouse model of TSC.

Dr. Bateman said: 'Within three years this project will dramatically increase our understanding of the molecular and cellular changes that occur in the brain in TSC.'

Funded by the US Department of Defense Tuberous Sclerosis Complex Research Program, Award #W81XWH-17-1-0082, the project is entitled 'Establishing the Molecular Basis of the Neurodevelopmental Features of Tuberous Sclerosis Complex (TSC)'. The project will involve collaborators from King’s College London, Dr Robert Hindges and Dr Cathy Fernandes, as well as Dr Andrew Tee (Cardiff University), Professor Angelique Bordey (Yale University) and Professor Yang Shi (Harvard Medical School).

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