More than 750 genes have been identified mutations in which cause intellectual disability. About them a seemingly unresolvable pile of data consisting of phenotypes, protein interactions, protein functions and gene regulation is available. However, the apparent lack of patterns in these data has put into question whether we will ever be able to understand the malfunctioning of the brain at the molecular level.
Through systematic analyses of phenotypes associated with the disease genes in humans and their counterparts in Drosophila, the groups of Annette Schenck, Dept. of Human Genetics and Martijn Huynen, Center for Molecular and Biomolecular Informatics (CMBI) together with an international team of clinicians, molecular Neurobiologists and bioinformaticians, now report a systematic classification of these genes. The work generated proof of principle that complex disorders can be disentangled based on phenotypes and provided a helicopter view on biological processes that underlie (mal)functioning of the brain. The gained insights can facilitate further research into brain functioning, diagnostics and the development of therapies.
They have published their results in the American Journal of Human Genetics: link
<< back to overview news items