News from CEXS-UPF
It is a pioneering study as it is the first to use the integration of genome sequencing together with blood RNA as a strategy to identify the genetic causes of Autism Spectrum Disorders (ASD). The goal of the research, as Ivon Cuscó points out "is to better understand the biological defects implicated in these disorders in order to provide diagnostic tools to the families affected". Specifically, patients from throughout Spain were studied in whom so far no genetic alteration had been detected.
The research, published in the journal Molecular Autism, has been led by Ivon Cuscó and Luis Pérez Jurado, researchers at the Genetics Unit of the Department of Experimental and Health Sciences (CEXS) of UPF, and members of the CIBERER network for the study of rare diseases, and is the result of the doctoral research project by Marta Codina, first author of the article.
The main results obtained have helped to identify new genetic alterations or mutations that, independently, are involved in the development of ASD. Fourteen percent of them were de novo mutations, that is to say, appearing in the patient without the parents having them; and 5% were hereditary and linked to the X chromosome.
Marta Codina-Solà, Benjamín Rodríguez-Santiago, Aïda Homs, Javier Santoyo, Maria Rigau, Gemma Aznar-Laín, Miguel del Campo, Blanca Gener, Elisabeth Gabau, María Pilar Botella, Armand Gutiérrez-Arumí, Guillermo Antiñolo, Luis Alberto Pérez-Jurado, Ivon Cuscó (2015) "Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders". Molecular Autism DOI: 10.1186/s13229-015-0017-0