Greenwood Genetic Center’s Dr. Rogers Speaks at International Symposium in New York City

Dr. Curtis Rogers, Senior Clinical Geneticist at the Greenville office of the Greenwood Genetic Center (GGC) and Director of Genetics for the Greenville Hospital system, was invited to attend and speak at the first International Phelan-McDermid Syndrome Symposium in New York City on March 3-4. The symposium, sponsored by the Phelan-McDermid Syndrome Foundation (PMSF), had over 110 participants and focused on how new findings related to Phelan-McDermid Syndrome (PMS) are helping scientists understand the biology of autism spectrum disorders (ASD) and are informing the development of novel therapeutics.

“The purpose of my talk was to explain the similarities and variability among patients with this syndrome as well as the difficulty in making a clinical diagnosis. As a clinician who has seen numerous families affected by this disorder, I also wanted to remind the laboratory researchers of the ultimate goal - to help affected individuals and their families,” said Dr. Rogers.

Phelan-McDermid Syndrome is a genetic condition that is widely considered to be one of the causes of ASD, which affects 1 in 110 children in the United States. It is a complex disorder involving mild dysmorphic features, developmental disability, delayed or absent expressive speech, autism or autistic-like features, seizures, and other medical conditions.

Also at the symposium, Sara Sarasua, a Clemson graduate student in the Department of Genetics and Biochemistry doing her doctoral work at GGC, received a $1,000 first place prize for Best Poster. Her poster entitled “Genotype-Phenotype Correlations in Phelan-McDermid Syndrome,” presented her research on the physical, developmental and behavioral features of patients with Phelan-McDermid Syndrome and correlated those features with the specific genetic laboratory findings for each patient.

“It has been a pleasure to work with Sara and she is an exceptional graduate student. I am proud of the fact that she has been able to secure funding in this economic climate to travel to scientific meetings and workshops. It is a very important part of graduate student training, because it allows them to network with other scientists and to learn new techniques,” said Sarasua’s supervisor, Dr. Julianne Collins of GGC.

Dr. Katy Phelan, for whom the syndrome is named, discovered the cytogenetic cause of the syndrome. At the time of her discovery, Dr. Phelan was the Director of the Cytogenetics Lab at GGC. Since her discovery, GGC has been closely involved with evaluating patients and doing research on this disorder.

The symposium at the New York Academy of Medicine, organized in conjunction with the Seaver Autism Center at Mt. Sinai School of Medicine in New York City, brought together researchers, clinicians, physician-scientists and individuals with PMS and their families to plan collaboratively for future research and translational applications. Their goal is to accelerate the development of effective therapeutics for Phelan-McDermid Syndrome and related ASDs. Symposium delegates included representatives from Autism Speaks, the Federal Drug Administration, INSERM the National Institutes of Health, Simons Foundation, multiple academic institutes from Europe and the United States and industry.

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