July 11, 2018
For his dedication and excellence in scientific research, Patient Preferred Physicians and Practitioners proudly named Dr. Luigi Boccuto, MD a Patient Preferred Physician representing Clinical Genetics and Research Science in the state of South Carolina.
With over a decade of achievements in his specialty, Dr. Boccuto is a well-reputed geneticist and research scientist focusing on multiple facets of genetics including the study of autism spectrum disorder (ASD), intellectual disability (ID), metabolic arrays and overgrowth conditions. He currently works as an assistant research scientist at the JC Self Research Institute at the Greenwood Genetic Center in Greenwood, South Carolina.
Dr. Boccuto’s medical career began when he graduated with his Medical Degree in 2002 from the Università Cattolica del Sacro Cuore in Rome, Italy. He then completed specialized training in medical genetics at the same university, training for years under Prof. Giovanni Neri with a focus on hereditary cancer, overgrowth syndromes, and intellectual disability syndromes.
Highly recognized for his research, Dr. Boccuto is a member if the American Society of Human Genetics and recipient of many awards. His research has been published numerously for his work with autism spectrum disorder and genetic disorders. 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 also 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 bio-markers for quick and reliable screening test and follow-up protocols, and developing new treatment approaches.
ASD affects 1 out of every 59 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. Dr. Boccuto’s work hopes to benefit children through earlier diagnosis and early evaluation programs.
Dr. Boccuto believes “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.”
Dr. Luigi Boccuto is recognized by the Patient Preferred Physicians Network for his dedication to medicine and for making strides in scientific research.
To learn more about Patient Preferred Clinical Geneticist, Dr. Luigi Boccuto, MD, please visit .
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