GGC Researchers Recognized with Best Poster at Phelan-McDermid Syndrome Foundation International Conference

GGC Researchers Recognized with Best Poster at Phelan-McDermid Syndrome Foundation International Conference

Greenwood Genetic Center (GGC) Assistant Research Scientist, Dr. Luigi Boccuto, and colleagues were awarded ‘Best Poster’ at the Phelan-McDermid Syndrome FoundationInternational Conference in Orlando, FL last week.

The team presented new methods to better characterize this complex and variable genetic disorder.
Phelan-McDermid syndrome is caused by chromosomal rearrangements involving the end of chromosome 22. The size of the rearrangement is variable between patients and may involve only a single gene or can include multiple genes. Patients express a wide spectrum of clinical findings, including severe developmental and speech delays, intellectual disability, poor muscle tone and autistic features.

“Phelan-McDermid syndrome has been challenging for physicians and researchers to understand because of the wide variability of symptoms and the multitude of specific genetic changes that exist in this population,” said Boccuto. “By using our approach of screening patients using neurobehavioral testing, looking at the preserved copy of seven genes in the region usually involved by the rearrangement, and assessing metabolic profiles of these patients, we have been better able to understand which genetic changes can modify the severity of the symptoms. That gives physicians more tools in providing a clearer prognosis and also points us toward potential treatments for this rare condition.”

The cause of Phelan-McDermid syndrome was first identified by Katy Phelan, PhD in 1992 when she was a laboratory director in Greenwood. Since that time, GGC has been a leading research institution for patients impacted by this disorder and has worked to uncover genetic changes in these patients, characterize the features of the disorder, and research potential mechanisms that could lead to treatments. GGC has also provided family support opportunities and worked closely with families in the creation of the Phelan-McDermid Syndrome Foundation.

“The Phelan McDermid Syndrome Foundation has put together a wonderful meeting for families to come together, share experiences and hear from the scientists who are working to find a treatment for this condition,” said GGC’s Curtis Rogers, MD, a co-author on the winning poster and speaker at the conference. “GGC has a long-standing interest in Phelan-McDermid syndrome, and we are pleased to be able to contribute to any work that is ultimately going to benefit these amazing families.”

Additional contributors the poster were Lauren Cascio, Mat Darmer, Sarah Dunn, Dr. Barb DuPont, Kelly Jones, Dr. Sara Sarasua, Cindy Skinner, and Dr. Charles Schwartz from the GGC’s Greenwood campus; Rebekah Dixon, Dr. Walter Kaufmann, and Jennifer Stallworth of the GGC’s Greenville office; as well as collaborators, Dr. Lindsay Oberman of Boston Children’s Hospital and Dr. Katy Phelan of Tulane University.

Photo: L-R – Drs. Luigi Boccuto, Katy Phelan and Curtis Rogers accept the award for Best Poster at the Phelan-McDermid Syndrome Foundation International Conference.

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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