Sila Ultanir leads the Crick’s Kinases and Brain Development Laboratory and studies CDKL5 deficiency disorder (CDD). CDKL5 is an essential protein in typical brain development and it is produced by a single gene on the X chromosome. Mutations of the CDKL5 gene cause neurodevelopmental problems and severe seizures within the first few months of life.
Sila originally came across an article on the gene when she was searching online to see how her knowledge of kinases could be combined with her interest in neurodevelopmental disorders.
She was initially drawn to the scientific challenge. “From a purely scientific point of view, it’s a unique opportunity to work on a single gene disorder, where we already have information about exactly what happens if it is missing.”
The wider community
However, she soon found that the research community around CDKL5 offered much more than just an interesting scientific problem. “Because it’s a relatively small but well-organised community, you have the opportunity to talk to patients and their families and you know exactly what you’re working towards.
“The knowledge that you’re working towards a specific unmet need for these families is a huge motivation to me and my group. Everyone remembers that when experiments get tricky in the lab. It makes the job more meaningful.”
Working as a smaller group also gives the CDKL5 community the opportunity to move faster with their research. Annual meetings organised by the CDKL5 organisation, the Loulou Foundation, bring together an impressive group of patient advocates, scientists, clinicians and pharmaceutical and biotech companies.