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In 2017 I identified changes in a gene called MYT1L or deletion of chromosome 2p25.3 (which contains MYT1L) in children with an early onset neurological condition. The MYT1L gene gives an important instruction for brain development. Since our first study of MYT1L many more people with this condition have been identified. We need to identify all the known cases of MYT1L-syndrome so that we can get a complete picture of the medical problems associated with this. This will enable us to give better advice to families and help clinicians look after patients better.
We aim to raise money to contribute to the costs of employing a PhD student to undertake this research.
If we can identify a large group of people with 2p25.3 chromosome deletions or MYT1L gene changes then we may be able to develop further research to examine how best to treat this condition.