Dr Manju Kurian and the team at the UCL Great Ormond Street Institute of Child Health, who have been awarded £1,494,943 by the Sir Jules Thorn Charitable Trust to define the genetic causes of Cerebral Palsy using a patient-centric approach to improve diagnosis and develop new treatments
Cerebral palsy is a devastating brain condition affecting around 30,000 people in the UK. It can lead to life-long movement difficulties, considerable disability and early death. Although usually attributed to birth injury, my work, and that of others has recently demonstrated that many children with “cerebral palsy” have a faulty gene causing their problems, with important implications for the affected child and their family. Importantly, for some of these genetic conditions, we have found specific treatments that can greatly help patients, some of whom were previously thought to have incurable diseases.
This project will investigate children diagnosed as having “cerebral palsy”, in whom there is a suspected genetic cause. The research team will undertake a variety of investigations to identify these faulty genes and study how these genes cause movement difficulties and disability. Specifically, the research will use state-of-the-art techniques to convert patients’ skin cells into brain cells and use this innovative system to test pioneering new treatments that will specifically target the faulty gene.
This research will undoubtedly benefit patients by providing more accurate answers, which will also help affected families plan for future pregnancies. By developing new treatments, we aim to correct disability and improve life expectancy.