"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.
Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand
motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’
and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet,