Summer 2017 'Friends of the Center' Newsletter

GGC celebrates the designation as a Rett Syndrome Center of Excellence, the Clemson University Center for Human Genetics at Self Regional Hall opens, the inaugural Race the Helix - Lowcountry is run, and much more...

Read the 2017 Summer Friends of the Center Newsletter online -

 Summer newsletter 2017 cover

or download the pdf.

Boccuto Presents at TEDx Greenvillle

Personalized Medicine: A New Approach

 "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

Click image to view video.

Luigi TEDX

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.

Video, image and bio courtesy of TEDx Greenville

 

Kaufmann Authors Largest Study on ASD and Fragile X syndrome

Treatment Disparities for Individuals with ASD and Fragile X syndrome

June 1, 2017 – Current behavioral therapies for individuals with autism spectrum disorder (ASD) are underutilized in children who have both ASD and Fragile X syndrome, reports a new study published today in a Fragile X supplement to the journal Pediatrics.

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May is Anencephaly Awareness Month

Gracelyn Ford changed her family forever through her very brief 13 and a half-hours of life. Gracelyn was born in 2015 with anencephaly, a birth defect in which the brain and skull do not fully form. The condition is lethal, often before or at delivery.

Read more...

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