Please help me provide better care for children with a rare genetic disease.
In 2014, when I was a junior doctor training in Medical Genetics, I met a young child in clinic. They had unexplained neurological problems. A blood test showed they had a piece of chromosome 2 missing. This missing piece of chromosome 2 held just a single gene called SOX11. The SOX11 gene gives an important instruction for brain development. No other children with this genetic change were known at the time.
To try and provide a diagnosis for this family I studied genome sequencing data from thousands of children and made contact with other doctors worldwide. By 2016 we had identified a handful of children with changes in the SOX11 gene. All had learning problems and other neurological symptoms. This confirmed that SOX11 gene changes cause neurological disease in children. Some of these children had physical features of a condition called Coffin-siris syndrome (small nail on 5th finger)
I now know there are many more children worldwide with SOX11 syndrome. We urgently need to gather information on the symptoms SOX11 syndrome causes so that doctors can have the information they need to provide the best possible medical care.
Given the rarity of SOX11 syndrome major medical charities will not fund research into it. That is why I am asking you to help. By providing a donation you will enable us to perform the research needed to improve the care of these children.
- If we can raise £5000 then I can collect data on all the children with SOX11 syndrome identified globally and produce a comprehensive report on their symptoms which will help doctors and nurses provide the best care for these children.
- If we can raise £10 000 then I can also perform a more detailed study of symptoms such as autism and describe in detail the learning problems these children have; this will help make sure their educational needs are met.
- If I can raise £15 000 then I can also perform tests of hormone levels to try and explain some of the symptoms children with SOX11 syndrome have.
- If I can raise £25 000 then I can employ a research assistant for 1-year to help create an experimental fish model of SOX11 syndrome. This would help us understand why loss of SOX11 gene function causes symptoms and would ultimately be used to try and identify medicines that might improve symptoms in SOX11 syndrome.