SUPERCHARGING DISCOVERIES GOSH Charity’s and Sparks’ National Call continues in its bid to support researchers across the UK as they investigate causes of rare diseases in children. Two researchers awarded grants tell Pioneer what they hope to achieve. As part of its ambition to help unlock breakthroughs in child medicine, Great Ormond Street Hospital Children’s Charity (GOSH Charity) has awarded a £2.5 million investment into 11 pioneering child health research projects to researchers based as six institutions across the country. Funding from the GOSH Charity and Sparks National Call (the children’s medical research charity Sparks merged with GOSH Charity at the end of March 2021) is the UK’s largest charitable grant-making scheme of its kind dedicated to paediatric rare disease research.
Professor Siddharth Banka, University of Manchester Grant awarded to identify treatments for KMT2 chromatin disorders.
Q: What are chromatin disorders? A: Chromatin disorders are a group of rare genetic conditions affecting brain development, which can result in neurodevelopmental disorders (NDD) such as intellectual disability and problems with other body systems. There’s no set definition of what chromatin disorders are, but we think there are around 200 known 10 PIONEER
chromatin disorders and maybe one in 2,000 children will have one. We have little knowledge of how and why chromatin disorders cause NDD but recent findings suggest certain disorders may be treatable.
Q: What’s your plan for the grant? A: Over the last few years we’ve been trying to work out the underlying mechanisms causing intellectual and neurological problems in a particular chromatin disorder called Kabuki syndrome type 1. So far there is no treatment for this condition. The current grant proposal from GOSH Charity is an extension of our previous work in Kabuki syndrome type 1, which is caused by changes in a gene called KMT2D. We’ll study another chromatin disorder, Kleefstra syndrome type 2, caused by changes in the KMT2C gene. We suspect because these two genes are quite closely related, the similar approaches might help understand both the disorders. We’ll conduct experiments to see how these genetic changes affect the development and function of brain cells. The final part of the research would be to identify potential therapies.
Q: What impact do you hope your research will make? A: We hope our research to improve the understanding of these disorders leads to the identification of new treatments for them and increase the awareness of these diseases among clinicians, scientists and the general public. The lessons we learn for these conditions may have wider applications in several other disorders..
Q: Why is charity funding so important to your work? A: Research funding for rare disorders affecting children is challenging to obtain. Funding from GOSH Charity, therefore, is crucial. I’m enormously grateful to the charity’s supporters. It’s their donations that will lead to real changes in people’s lives.
