Blog

Recently, two new expertise have been launched under ENCORE!

The first center is an international CAMK2 expertise center. ENCORE has been researching the role of the CAMK2 enzyme in the brain for many years, and ENCORE was involved in the identification of patients with a mutation in the CAMK2 gene. Currently, more than 70 children and adults are known worldwide with a CAMK2-related condition, and this number is growing rapidly. We have now seen 14 children with a CAMK2 mutation, so that we are slowly gaining a better understanding of which medical problems we should focus on in the future.

We have also started a Duplication 15q syndrome (Dup15q) expertise center. Dup15q refers to a duplication of a piece of Chromosome 15. This is exactly the same piece that is missing in Angelman Syndrome. Children with Dup15q often show developmental delay, sleeping problems, epilepsy and behavioral problems. Because ENCORE is already doing a lot of research into the genes on this part of chromosome 15, that are studied in the context of Angelman syndrome, it was obvious to start an expertise center for these patients as well. The first children have already seen in the clinic.