Genetics Of Autism
Autism is an impairment which has a very high hereditary contribution, over 90%. Several linkage and association studies have been performed without consistent replication of data.
The different international consortia joint forces and performed a genome-wide linkage study. At the same time copy number variations (CNV’s) were mapped, these are very small changes in the amount of the hereditary material.
Approximately 10% of the patients appeared to have these CNV’s. This group of patients was excluded during the linkage analysis. The linkage analysis resulted in a suggestive linkage peek on the short arm of chromosome 11 (11p12-13). This area contains over 160 genes, indicating that “the gene” has not been found yet.
The next step is further analysis of the CNVs in autism patients. In collaboration with Peter Burbach, the department of Pharmacology and Anatomy, and the division Medical Genetics we will now compare CNVs in autism patients to control subjects on an even higher resolution as before.
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature Genetics - 39, 319 - 328 (2007)
Published online: 18 February 2007; | doi:10.1038/ng1985
The Autism Genome Project Consortium
The Rudolf Magnus Institute is dedicated to Neuroscience
The institute was named after the first professor of Pharmacology in the Netherlands, Rudolf Magnus.
In 1968, on the initiative of David De Wied, the Department of Pharmacology was renamed “Rudolf Magnus Institute of Pharmacology”, to commemorate the 60th anniversary of the first chair for Pharmacology in The Netherlands.
Under the directorship of De Wied’s successor, Willem Hendrik Gispen, who was director in 1988-2000, the Rudolf Magnus Institute was transformed into a Neuroscience institute, aptly named Rudolf Magnus Institute of Neuroscience, which encompassed many research groups from three Faculties of Utrecht University.
The present director Jan M. van Ree (director since 2001), has taken on himself the task to redefine the aims of the research within the institute. To this end, functional Sections were formed, each around a defined research topic, to maximise the use of resources and research output. The new elan of the Institute is among others expressed in the modernised logo.
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