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Search and identification of new genetic and epigenetic causes of autistic spectrum disorders: design and implementation of a targeted high-resolution array with key elements of the epigenetic machinery

15th National Programme for the allocation of Research Grants for Life and Matter Sciences

The genome and epigenome

Senior Researcher : María del Carmen Orellana Alonso

Research Centre or Institution : Hospital Universitario La Fe. Valencia.


The main objective of this project is to develop an application that will be useful in the study and genetic diagnosis of patients with autistic spectrum disorders, among which we are beginning to see the importance of epigenetic alterations. The aim is to explore a sample of at least 200 patients with ASD in which small genomic imbalances (microduplications and microdeletions) will be sought in all those loci known to be key elements in the epigenetic machinery with proven importance in CNS development and function. To perform these studies, comparative genomic hybridisation will be used on a very high resolution oligonucleotide array with an ad hoc design to detect not only genomic rearrangements involving dose changes in complete loci (gains and losses), but also intragenic structural re arrangements (microdeletions or partial microduplications). In cases where abnormalities are found, a familial study will be carried out to determine whether changes have been inherited or have arisen de novo, so we can assess the risks of recurrence and provide adequate genetic counselling to family members. There will also be a cognitive-behavioural profile of these patients using neuropsychological studies, attempting to link specific genetic alterations with specific patterns of behavioural, communication or social relationship disorders.

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