Saturday, April 2 is World Autism Awareness Day
2 April 2016 - Thanks to the collaboration with King's College London started in the last year, theUniversità Campus Bio-Medico di Roma is at the forefront of new discoveries regarding autism. On the occasion of World Autism Awareness Day (Saturday 2 April), Roberto Sacco, Responsible of Neurodevelopmental Disorders Service UCBM, talks about the new possibility of obtaining personalized therapies starting from the patient's own hair, thanks to the in vitro creation of neuronal cells.
"Using an innovative technique, known as Array-CGH, or Comparative Genomic Hybridization - explains Sacco -we studied 200 families, identifying the certain or highly probable cause of the disorder in 30% of cases. This it will allow, perhaps faster than expected, to develop personalized treatments that are finally effective". An important step, achieved thanks to the European genetic research project of the EU-AIMS consortium, in which Italy is among the partners with the Research Unit ofUniversità Campus Bio-Medico di Roma.
Soon, at the laboratory of Mafalda Luce Center for Pervasive Developmental Disorders in Milan, also belonging to theUCBM, next generation DNA sequencing activity will be launched (Next Generation Sequencing, NGS), a process which in turn allows to identify the genetic cause of autism. It is within this structure that theUCBM carries out clinical and research activities on autism. The Center offers an integrated path of diagnosis, therapy and rehabilitation, to ensure continuity of care for people with developmental disorders (both children and adults). It completes or deepens the initial diagnosis, carried out by the Child Neuropsychiatry Operative Unit active in the area, and formulates rehabilitation programmes, which are then carried out in Semi-residential and support center of families.
THEUCBM and then joined the World Autism Consortium, coordinated by the University of New York Monte Sinai, which has as its purpose the sequencing of the genome of autistic subjects through NGS. For this reason, it will be essential to raise enough funds to purchase a new generation sequencer for the Mafalda Luce Center.
It then continues on the part of the Universitycommitment within the Italian NIDA network (Italian Network for the early recognition of autism spectrum disorders), aimed at identifying developmental atypicalities already in the first year of a child's life. In the next three years, the Research Unit UCBM it will be responsible for identifying more and more in-depth mutations and rare genetic variants, through the analysis of the genome of families with high-risk children. The timely identification of the variants will allow these children to be included in an appropriate and targeted therapeutic intervention program that is increasingly effective and personalized.
In the last few years data on the diffusion of autism are alarming and they say one case for every 88 births. A boom due in part to the refinement of diagnostic techniques, on the other hand to the fact that it is conceived more and more over the years, as well as to the possible exposure in the prenatal period to environmental factors such as viral infections. The therapies of proven efficacy - behavioral and psychoeducational - are still few. What is missing today is not only a resolutive therapy. In fact, reference centers in the area are also often absent, able to support the patient and his family in a continuous and coordinated treatment path between the various subjects who work around the child.
