UNIEK (zeldzame vormen van autisme)

Veel van de cognitieve ontwikkelingsstoornissen die deel uitmaken van het ENCORE expertisecentrum zijn geassocieerd met autisme, en staan ​​daarom op de ‘autisme’ genenlijst zoals hierboven getoond (bijv.UBE3A, TSC, FMR1, GRIN, de meeste RASopathieën). Er staan ​​echter ook veel genen op deze lijst waarvoor patiënten uiterst zeldzaam zijn, met slechts 1 of enkele patiënten in Nederland. Om van deze aandoeningen te leren, hun verschillen te begrijpen en behandelmogelijkheden te onderzoeken, zijn we het expertisecentrum ‘Uniek’ (‘Uniek’) gestart. In het lab bestuderen we deze aandoeningen door gebruikmaking van geïnduceerde pluripotente stamcellen (iPS). Deze stamcellen worden gegenereerd uit bloedcellen die zijn gedoneerd door patiënten en niet-aangedane familieleden. Het grote voordeel van dergelijke iPS-cellen is dat we deze cellen kunnen differentiëren tot menselijke neuronen, waardoor we menselijke (patiënt) neuronen in een kweekschaal kunnen bestuderen.  Met deze benadering hopen we te ontcijferen hoe deze mutaties de hersenen ontregelen en om nieuwe geneesmiddelen te identificeren die de hersencel functie herstelt.

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