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Projects. Life and Earth Sciences

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

Lead Researcher: 
María del Carmen Orellana Alonso 

Research Centre:   
Hospital Universitario La Fe.  Valencia. (Spain).

Synopsis:
Mª Carmen OrellanaThe 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.

SCIENTIFIC PRODUCTION   

2 articles published in Journals 
4 papers at international conferences   
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María del Carmen Orellana Alonso 
Born in Valencia on 22nd July 1969. 

Degree in Biological Sciences from the Universidad Complutense de Madrid (June 1992). She began her training in the field of human genetics as a research fellow at the Genetic and Prenatal Diagnosis Unit at the La Fe University Hospital in Valencia (1993-1997). The result of the work produced in this period was the completion of her doctoral thesis on molecular genetic alterations in infant tumours in the nervous system, a work which earned her a Ph.D. from the Department of Genetics at the University of Valencia (1999). Since 1998, she has worked as a biologist attached to the Genetics and Prenatal Diagnosis Unit at the La Fe University Hospital in Valencia. Throughout these years she has participated in 18 research projects on the lines developed by the group, which include:

- Paediatric oncology research: aimed at the genetic and molecular characterisation of various paediatric tumours of the nervous system. Aimed at identifying genes or molecular markers of minimal residual disease with diagnostic utility.
- Research into mental retardation and neurodevelopmental disorders: identification of genes responsible for mental retardation and detection of genomic alterations that cause neurodevelopmental disorders
- Research into reproductive problems: identification of predisposing factors to poor chromosome segregation underlying reproductive problems.

The result of this research was more than 35 publications in international scientific journals and the supervision of 3 doctoral theses, to which must be added 4 doctoral projects being carried out at present within the research group.

  
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