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Basque Government SPRI
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Autism project reveals genetics as main cause of this illness

December 18, 2009

Edificio
BIOEF Headquarters

The AUTISMOIKER project has presented the results of their research into autism, which shows the importance of genetic causes behind the development of the disease. According to the study, 77% of families with an autistic child have at least one close relative (father, mother, sister or brother) with some characteristics of the broad autism phenotype. Autistic Spectrum Disorders (autism) are made up of a group of neurobiological disorders that develop most frequently in childhood. It is estimated that they are present in one in every 150 children.

This project was the winner of the call from the Basque Foundation for Health Innovation and Research (BIOEF) to carry out research into autism with funds generated by the telethon in aid of this illness run by the Basque television channel EITB on 22 December 2004. AUTISMOIKER has also received support from the Foundation Dr. Carlos Elosegui of the Polyclinic Gipuzkoa and from FEVAS (the Basque Federation of Associations for people with mental disabilities).

The research has brought together a large team of professionals and families of those affected in the Basque Country and Navarra. The main researcher is Dr Joaquín Fuentes Biggi, Head of the Child and Adolescent Psychiatry Service in the Polyclinic Gipuzkoa, and scientific advisor to GAUTENA (the Gipuzkoan Autism Association).

The BIOMICS Research Group from the University of the Basque Country (UPV/EHU), led by Dr Marian Martínez de Pancorbo, Chair in Cell Biology, as well as the clinical teams from GAUTENA, APNABI (the Bizkaian Association for Autism), ARAZOAK (the Alavan Association for Autism) and the Autism section of ANFAS (the Navarran Association for people with mental disabilities) constitute the research team involved in the project.

Additionally, a specialised team from the University of Oxford, led by Dr. Jeremy Parr, shared its expertise in the management of Autism FHI, a tool designed to detect and classify the features characteristic of autism in people who do not present this phenotype.

For the study, an initial group of 47 affected families took part (a number which has since risen to 67) and were tested for these features. The results, which are pioneering in Spain, show that in 77% of families there is effectively at least one member (mother, father, brother or sister) with some phenotypical feature of autism.

“When AUTISMOIKER ended, there was still a conviction in the Basque Country that it is ethically imperative to continue research into this area, which is of such professional, family and social importance”, said Dr Fuentes. He added that, “the research team is trying to find the funds to make proper use of the technical and human potential that has come out of the institutional fabric created by the AUTISMOIKER project”.