Luigi Boccuto

Human Genetics

113 Gregor Mendel Cir Greenwood South Carolina, 29646 Show map

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About

Works in Research Department. His projects are mainly focused on identification of molecular causes of autism, intellectual diability, and conditions characterized by segmental and/or generalized overgrowth. Works on metabolomic assays in order to characterize the metabolic profiles of cell lines from individuals with different genetic conditions. Involved in translational medicine and genetic treatment.

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Luigi Boccuto

Luigi Boccuto's Expert Contributions

My Answers

Can a psychiatrist help my father who is suffering from dementia?
Yes, a psychiatrist will help deal with many aspects of dementia. Luigi Boccuto, MD READ MORE
Should I be worried about getting or having multiple sclerosis?
It's reasonable to ask a neurologist to be monitored for high risk for multiple sclerosis due to positive family history. Luigi Boccuto, MD READ MORE
How do I know if I'm a carrier of a muscular dystrophy gene?
Yes, there are genetic tests, but first the affected family member(s) must undergo the tests and then the investigation can be expanded to the other members of the family. Luigi Boccuto, MD READ MORE
Are there ways to test for Down syndrome?
Yes, it is possible to diagnose Down syndrome prenatally either via invasive procedures such as amniocentesis or via non-invasive blood tests. Luigi Boccuto, MD READ MORE
Are there such a thing as cancer genes?
Hello, You don't "pass down" cancer, but there are certain genes that, when mutated, increase your chances of developing certain forms of cancer. Therefore, you can inherit the predisposition to develop some cancer, but not the cancer itself. Best, Luigi Boccuto, MD READ MORE
Why is smoking somehow related to your genes?
There are no strong evidences yet on the genetic predisposition to cigarette smoking, however, it has been proven that cigarette smoke has mutagenic effect on the DNA and can influence the expression of certain genes via epigenetic modifications. It has also been proven that certain epigenetic modifications can be inheritable. Therefore, it is plausible that smoking cigarettes can cause genetic and epigenetic changes that will increase the predisposition to smoke in the next generation. Luigi Boccuto, MD READ MORE
What are the chances that my child will have sickle cell anemia?
The chances are 25% (1 out of 4). You also have a 50% chance that your child is a carrier like you and your husband. There is also another 25% chance that your child will be normal (not carrying even one copy of the sickle cell gene). Luigi Boccuto, MD READ MORE
What are the various factors that cause cystic fibrosis?
Good afternoon, The typical symptoms suggesting a test for cystic fibrosis are usually related to respiratory problems. However, this condition can also affect other organs, like the pancreas, causing digestive issues. The disease is genetic: mutations in the CFTR gene are the cause. Best, Luigi Boccuto, MD READ MORE
Are heart diseases heriditary?
Some of them are. Without a precise diagnosis, it's impossible to assess a risk. Luigi Boccuto, MD READ MORE

Treatments

Medical Genetics

Professional Society Memberships

American Society of Human Genetics

Articles and Publications

1. ??Genetic profile of patients with alcoholic liver disease?.
Boccuto L, Abenavoli L.
Annals of Hepatology, submitted for publication.
2. ??The complex genetic landscape of 22q13 deletion syndrome?.
Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufman WE, Thurm A.
Am J Med Genet B, submitted for publication.
3. ??Spermine Synthase Deficiency Causes Lysosomal Dysfunction and Oxidative Stress through Polyamine Oxidation in Snyder-Robinson Syndrome?.
Li C, Brazill JM, Liu S, Bello C, Zhu Y, Cascio L, Pauly R, Goheen M, Weech A, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG.
Nature Communications, submitted for publication.
4. ??A Pilot Study of Perspectives of Laboratory Screening for Autism.?
DeLuca JM, Sarasua SM, Boccuto L.
IJNS, submitted for publication.
5. ??Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome.?
Peterson JF, Bick DP, Geddes GC, McCarrier J, Grignon JW Jr, Chirempes B, Broeckel U, Abidi F, Rogers RC, Boccuto L, DuPont B, vanTuinen P.
Am J Med Genet A. 2016 Aug 23. doi: 10.1002/ajmg.a.37939.
6. ??PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.?
Mirzaa G, Timms E, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krgeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O??Connor BC, Keegan CE, Yin LJ, Meeng Lai AH, Martin N, McKinnonM, Addor M-C, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Lisa Worgan L, James Reggin J, Raoul Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr., Guerrini R, and Dobyns WB.
JCI Insight. 2016;1(9):e87623.
7. ??Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.?
Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE.
Orphanet J Rare Dis. 2015 Aug 27;10(1):105.
8. ??Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.?
Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE.
Am J Med Genet A. 2015 Jul;167(7):1679-80.
Published

What do you attribute your success to?

His life long quest for learning, problem solving, and bettering the health of human beings.

Areas of research

AutismIntellectual disabilityPhelan-McDermid syndromeSegmental and generalized overgrowthCancerMetabolomicsPathway analyses

Hobbies / Sports

Soccer, Photography, Traveling, Reading

Favorite professional publications

New Englan Journal of Medinice, American Journal of Medical Genetics, American Journal of Human Genetics, Clincal Genetics

Luigi Boccuto's Practice location

Greenwood Genetic Center

113 Gregor Mendel Cir -
Greenwood, South Carolina 29646

Get Direction

New patients: 864-388-1044

Mon:09:00 AM - 05:00 PM
Tue:09:00 AM - 05:00 PM
Wed:09:00 AM - 05:00 PM
Thu:09:00 AM - 05:00 PM
Fri:09:00 AM - 05:00 PM
Sat:Closed
Sun:Closed

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Media Releases

Luigi Boccuto received both his Doctor in Medicine and his Post-Doctorate Degree in Genetics from Università Cattolica del Sacro Cuore, an Italian private research college founded in 1921. Under the guidance of Professor Neri in Rome, he trained in multiple areas of hereditary cancer, overgrowth and intellectual disabilities. Dr. Boccuto stands as a professional member of the American Society of Human Genetics. He has been honored with numerous awards throughout his career, including a 2017 Executive Award for Best Research Scientist in South Carolina, Best Poster at the 2016 Phelan-McDermid Syndrome International Family Conference, Best Poster at the Synaptopathies Meeting in Neurodevelopmental Disorders in Washington, DC, as well as a Young Investigator Award at the Second International Phelan-McDermid Syndrome Symposium in Orlando, Florida. Additionally, he was awarded for Best Italian Thesis in 2002-2003 in Genetic Oncology by Gianmichele Laccetti. Dr. Boccuto has been practicing for over 16 years and currently serves as Research Scientist at the JC Self Research Institute of the Greenwood Genetic Center and Chief Scientific Officer of STALICLA. Furthermore, he is affiliated with the Clemson University School of Health Research as a Clinical Assistant Professor, as well as with the University of South Carolina School of Medicine as a Research Assistant Professor of Pediatrics in the Department of Pediatrics. At present, Dr. Boccuto is characterizing the metabolic profiles of cells from patients with autism and intellectual disability syndromes, as well as mental disorders such as schizophrenia, ADD/ADHD and Tourette syndrome. He is also actively involved in translational medicine and genetic treatment. Clinical geneticists, like Dr. Boccuto, are doctors with specialist training in diagnosing and treating genetic conditions or disorders, such as cystic fibrosis and Huntington’s disease. They can help people who are affected by, or at risk of, inherited conditions to make informed health choices. Dr. Boccuto has vast expertise in several areas relating to his line of work, especially hereditary cancers, overgrowth syndromes, and intellectual disability syndromes. He is fluent in Italian, English and Spanish, and attributes his success to a lifelong quest for learning, problem-solving, and bettering the health of human beings. In his spare time, he enjoys reading, playing soccer, traveling, and photography.