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Assistant Research Scientist
Greenwood Genetic Center
Contact: 864-388-1045 or firstname.lastname@example.org
Luigi Boccuto is a clinical geneticist who trained for several years under Professor Giovanni Neri in Rome with a focus on in hereditary cancer, overgrowth syndromes and intellectual disability (ID) syndromes. Currently, he is working as Research Scientist and faculty member at the Greenwood Genetic Center, focusing on autism spectrum disorder (ASD), intellectual disability (ID), metabolic arrays, and overgrowth conditions.
Dr. Boccuto has been working on the Phelan McDermid syndrome since 2007, focusing on the role of SHANK3 and other candidate genes and on the definition of genotype/phenotype correlation in patients with chromosomal rearrangements. In 2016, he was appointed as Head of the of the Phelan McDermid syndrome Research Program at the Greenwood Genetic Center.
Dr. Boccuto has been investigating the metabolic profiles associated with ASD, ID or overgrowth, with the intention of better characterizing the molecular mechanisms underlying these conditions, identifying new biomarkers for quick and reliable screening test and follow-up protocols, and developing new treatment approaches. During these studies, Dr. Boccuto began a close collaboration with Drs. Kevin Champaigne and Delphine Dean, from the Department of Bioengineering of Clemson University. Such collaboration eventually led to Self Regional Healthcare Collaborative Research Grant, “Investigation of aberrant tryptophan metabolism as a biochemical basis for Autism Spectrum Disorders (ASDs)”, funded for 3 years (2014-16). The preliminary data generated in the first 2 years of the grant were presented in one national and two international meetings, and will soon be included in a scientific publication.
Luigi investigates the metabolic profiles associated with different neurodevelopmental disorders. Particularly, he employs Biolog Phenotype Microarray (PM) platforms to detect abnormal utilization of the amino acid tryptophan in cell lines from patients with autism spectrum disorder (ASD).
ASD affects 1 out of every 68 US children and has substantial impact on both families and society. The current diagnosis is based upon behavioral and observational evaluations performed around age three. Children may benefit from an earlier identification of ASD through participation in early intervention programs. The finding of the abnormal tryptophan metabolism in ASD provides new tools to study the pathogenic mechanisms underlying this disorder and represents an initial step in the development of a laboratory assay for the screening of children at risk of developing ASD. Moreover, his projects are exploring metabolic approaches to restore the normal tryptophan utilization in ASD cells, aiming to develop novel treatment protocols for this disorder.
The same technology has been applied to cell lines with abnormal activity of the Pi3K-AKT pathway, associated with segmental overgrowth and cancer. Luigi and his colleagues have successfully tested different compounds that seem to restore normal activity levels of the pathway, identifying new molecular targets for the treatment of Pi3K-AKT-related disorders.
The characterization of metabolic abnormalities associated with genetic disorders represents a key development of translational research and could provide new and more effective tools to precision medicine, the future dimension of health care.
Clinical Genetics, Metabolomics, Autism Spectrum Disorder, Metabolic Profiles, Pi3K-AKT-related Disorders, Intellectual Disability (ID), Overgrowth, Molecular Studies, Translational Research.