Monozygotic (‘identical’) twin studies have shown that autism is highly heritable. In the last decade, many genes have been identified which, when mutated, can cause autism. A comprehensive list of these ‘autism’ genes is shown below (source: www.SFARI.org; updated January, 2020).
Many of the neurodevelopmental disorders that are part of the ENCORE expertise center are associated with autism, and hence they are on the ‘autism’ gene list as shown above (e.g. UBE3A, TSC, FMR1, GRIN, most RASopathies). However, there are also many genes on this list for which patients are ultra-rare, with only 1 or a few patients in The Netherlands. To learn from these disorders, understand their differences and investigate options for treatment, we have started the ‘Unique’ (‘Uniek’) expertise center. In the lab we study these disorders using induced pluripotent stem (iPS) cells. These stem cells are generated from reprogrammed blood cells donated by patients and unaffected family members. The major benefit of such iPS cells is that we can differentiate these cells into human neurons, which enables us to study human (patient) neurons in a dish. With this approach we hope to decipher how these mutations cause neuronal dysfunction and identify novel drugs to correct neuronal function.
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