GGC-Charleston Hosts International ISMRD Meeting

GGC-Charleston Hosts International ISMRD Meeting

The 2012 International Conference for Glycoprotein Storage Disorders was held in North Charleston, SC on July 28-29, 2012. The Greenwood Genetic Center
(GGC) co-hosted the event with ISMRD, the International Advocate for Glycoprotein Storage Disorders.

Glycoprotein storage diseases are a group of rare progressive genetic conditions affecting multiple systems of the body resulting in various physical and
mental disabilities and often premature death. Concurrent scientific and family meetings brought together clinicians and researchers with families
from all over the world. The scientific meeting focused on current research progress and clinical findings for this group of genetic disorders. The
family meeting offered information on various therapies, clinical management issues and family support concerns.

Saturday’s sessions ended with a balloon release in memory of those who lost the battle with these conditions.

Dr. Jules Leroy, a senior genetics scholar at the Greenwood Genetic Center, was honored with ISMRD’s Lifetime Achievement Award. Leroy, a former professor
and chairman of pediatrics at Ghent University of Medicine in Belgium, discovered mucolipidosis II (I-Cell or Leroy Disease), one of the glycoprotein
storage disorders.

Multidisciplinary clinics for 30 patients were also held at GGC’s Charleston office on July 27th and 30th. Dr. Sara Cathey of the GGC’s Charleston office
is the principal investigator for a natural history study of these disorders funded by the Lysosomal Diseases Network Consortium Grant and supported
by the NIH Office of Rare Diseases. Cathey, an internationally known expert on these conditions, and her colleagues from GGC and MUSC welcomed families
from seven countries on four continents who were seeking to further the understanding of these conditions as well as find support from other families
facing similar challenges.

“We were so proud to host such talented scientists and inspiring families from all over the world. It is amazing to bring together these researchers with
the patients and families who desperately seek more information, research and treatments, “expressed Cathey. “And with these disorders being so rare,
this is the only opportunity many of these families have to meet in person. The benefit of that support cannot be overestimated.”

Patients and volunteers pose for a group photo before loading the buses headed to the Charleston Aquarium

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noon...

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