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Dr Manju Kurian

Dr Manju Kurian

‘Defining Genetic Causes of Cerebral Palsy: A Patient-Centred Approach to Improve Diagnosis and Develop New Treatments'

Dr Manju Kurian, UCL Great Ormond Street Institute of Child Health

Cerebral palsy is a common childhood condition associated with significant disability. It can cause problems with movement, learning and behaviour. Although traditionally associated with birth injury, many children with “cerebral palsy” actually have a faulty gene causing their problems. This has important implications, particularly with regard to making the right diagnosis and ensuring the best possible treatments for these children.

I have undertaken research on patients with “cerebral palsy” from my Specialist Clinic in Great Ormond Street Hospital. In a preliminary study of 95 patients, I identified a genetic cause in around half of the children. During this process, I discovered new genetic diseases. Furthermore, for some patients, we were able to instigate therapies targeted to treat their specific disease. This has led to significant, often striking improvements in some patients. Some disabled children have even regained the ability to walk independently.

I now plan to undertake genetic investigations in a further 200 children with cerebral palsy. Using new state-of-the-art techniques, I will convert patient skin cells into brain cells (neurons) which will allow me to better understand disease mechanisms in these genetic forms of cerebral palsy, as well as to develop new and better treatments for these patients.

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