"The goal of the new personalized medicine must not be to treat a disease, but to design the best possible cure for each and every human being."
Luigi Boccuto is originally from Catanzaro, Italy, but has been living in Greenwood, SC for over 10 years. He received his medical degree and post-doc degree in medical genetics at the Catholic University of Sacred Heart in Rome. During his school and training years, he worked on hereditary cancer, overgrowth syndromes and intellectual disability syndromes.
He is currently working as a Research Scientist at the JC Self Research Institute of the Greenwood Genetic Center. His main projects are focused on the study of autism, intellectual disability, and conditions with segmental or generalized overgrowth. Most of his work is focused on characterizing the metabolic profiles of cells from patients with genetic conditions, to detect biomarkers for early screening or diagnosis, discover pathogenic mechanisms underlying such disorders, and identify novel targets for treatment approaches.
He has always wanted to work in genetics and loves his job, particularly the idea that what he does will help children in the present, and even more in the future. In his free time, he likes to play soccer and read. His other passions are photography and traveling.
Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along
with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the
diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project.