Faculty Scholars

About

Luigi Boccuto is a clinical geneticist who trained for several years with a focus on hereditary cancer, overgrowth syndromes, and intellectual disability (ID) syndromes. He worked as Research Scientist and faculty member at the Greenwood Genetic Center (Greenwood, SC), focusing on autism spectrum disorder (ASD), ID, metabolic arrays, and overgrowth conditions. He also worked as Chief Scientific Officer for STALICLA, SA (Geneva, Switzerland), focusing on innovative approaches in the treatment of ASD. Currently, he is working as Clinical Associate Professor at the School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University (Clemson, SC). Dr. Boccuto has been working on the Phelan McDermid syndrome since 2007, focusing on the characterization of genotype-phenotype correlations and the role of SHANK3 and other candidate genes in the phenotype of the syndrome. He is part of the Phelan-McDermid Syndrome Research Initiative at Clemson University, a member of the Scientific Advisory Board of the Phelan-McDermid Syndrome International Foundation, and a member of the Scientific Committee of the Italian Association for the Phelan-McDermid Syndrome.

Dr. Boccuto has been investigating the metabolic profiles associated with ASD, PMS, ID, cancer, overgrowth, and other genetic disorders with the intention of better characterizing the molecular mechanisms underlying these conditions, identifying new biomarkers for a quick and reliable screening test and follow-up protocols, and developing new treatment approaches. He has also been involved in projects investigating the molecular and genetic abnormalities responsible for liver disease, microbiota alterations, metabolic disorders, and predisposition to COVID-19.

Visit Dr. Boccuto's Department Profile.

How their research is transforming health care

Dr. Boccuto 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 54 US children and has a 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 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. Metabolic profiling has been used to investigate the pathogenic mechanisms underlying several other genetic disorders, in particular Phelan-McDermid syndrome. 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.

Health Research Keywords

Faculty Scholar, Phelan-McDermid Syndrome, Autism Spectrum Disorder, Clinical Genetics, Metabolic Profiles, Pi3K-AKT-related Disorders, Metabolomics, Intellectual Disability (ID), Overgrowth, Molecular Studies, Translational Research.