Autism Spectrum Disorder (ASD) is a common neurodeal developmental disorder that still lacks adequate methods of investigation, which often leads to late diagnoses and subsequent late therapeutic interventions. Although a substantial genetic component is clear, no gene has been identified so far that is more than 1% associated with ASD. Epigenetic mechanisms, including microRNAs (miRNAs) may contribute to autistic phenotypes by altering the expression of "networks" of genes important in the development and functioning of the Central Nervous System. The presence of microRNAs on the outside of the cells allows the study of their expression starting from the biofluids that can be collected in a non-invasive way and without causing pain. Small blood samples or even better, salivary samples, can therefore potentially be used for the characterization of microRNAs expressed differentially in patients with ASD compared to healthy controls with obvious diagnostic and prognostic advantages. The project presented aims to characterize a microRNA panel able to determine a diagnosis and prognosis of ASD.
The project stems from the scientific collaboration with the Department of Biology and Biotechnology Charles Darwin of the University "La Sapienza" of Rome which represents the Research Organization
The study aims to clarify whether the presence of micro-RNA, coming from the central nervous system and differentially expressed in patients with ASD, can be used for the early diagnosis of the disease. In addition, the same characterization could be used to distinguish early the different phenotypic cases of the pathology, which are, in fact, a continuum of neurobehaps symptoms.
The project described fits perfectly into the "Life Science" Specialization Area indicated in the "Smart Specialization Strategy" (S3) of the Lazio Region. More precisely, the subsector "Biomedical" or Medical Devices, indicated by the Region as an absolute priority, includes diagnostic devices for genomics and proteomics as well as diagnostic biomarkers that are the subject of the research project illustrated. Even the "minimally invasive" aspect mentioned in the S3 description is absolutely central to the diagnostic perspectives recalled by the project.
During the first phase of the study, through NGS sequencing experiments, the microRNAs involved in the expression of genes responsible for autistic disorders will be characterized. The results obtained will lead to the identification of a panel of micro-RNA differently expressed in ASD patients potentially able to act as biological markers.
FINANCIAL SUPPORT RECEIVED
For the realization of the project a total investment of € 317,660.00 was admitted on which a grant of € 254,128.00 was awarded. The resources of the funding are in reference Public Notice "LIFE 2020" referred to in the Det. n. G08726 of 29/07/2016 – POR FESR LAZIO 2014 – 2020 – Integrated projects, CUP F87H18000270007