Clemson Funds Joint Research Project

Clemson Funds Joint Research Project

Doctoral student to advance work on rare disease

Greenwood, SC  – Greenwood Genetic Center (GGC) Assistant Research Scientist,
Luigi Boccuto, MD, and Clemson University Assistant Professor of Nursing, Sara Sarasua,
PhD, have secured a one year Clemson University Support for Early Exploration and Development (SEED) grant.
The nearly $10,000 award will support the work of Lavanya Jain, a doctoral student in the Healthcare Genetics Program in Clemson’s Department of Nursing.
Jain is conducting her graduate research at GGC on Phelan-McDermid syndrome, a rare disorder that was
first identified by GGC scientists in 1992. The disorder is most often caused by a missing segment of chromosome 22, involving up to 150 genes.
Individuals with Phelan-McDermid syndrome have a variable clinical course. All have developmental delays and nearly half also have autism spectrum disorder,
seizures, and/or sleep disturbances. There is currently no treatment.
“Our project aims to build a bridge between what is happening in the cells of these patients and what is observed clinically,” said Jain. “We expect to
generate results that will lead to more personalized and successful approaches in the clinical management and treatment of patients with Phelan-McDermid
The SEED grant will provide for the purchase of reagents and supplies for Jain’s laboratory work which will correlate clinical, genetic and metabolic data
on a group of 25 patients with Phelan-McDermid syndrome. Data analysis will help identify subgroups of patients and provide data for future treatment
initiatives for Phelan-McDermid syndrome.
“In order to move toward a personalized therapy for these patients, it is critical that we better understand the role of each genetic alteration, as well
as identify metabolic changes that could point us toward potential targets for therapy,” said Boccuto. “This work will allow us to better categorize
patients with Phelan-McDermid syndrome and identify therapeutic targets that could impact not only those with this rare disorder, but also others with
autism, seizures, and/or sleep disorders.”


Photo caption: (L-R) Lavanya Jain, Luigi Boccuto, MD, and Sara Sarasua, PhD


Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...

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