GGC to Host International Conference on Glycoprotein Storage Diseases

GGC to Host International Conference on Glycoprotein Storage Diseases

The 2012 International Conference for Glycoprotein Storage Disorders will be held in North Charleston, SC on July 28-29, 2012. The Greenwood Genetic Center is the host institution for this international scientific meeting which brings together researchers, clinicians and students from all scientific disciplines who have an interest in these disorders.
The glycoproteinoses are Aspartyglucosaminuria, Fucosidosis, Galactosialidosis, alpha-Mannosidosis, beta-Mannosidosis, Mucolipidosis II, Mucolipidosis III, Schindler disease, and Sialidosis.

Abstracts submission is now open for platform and poster presentation for this meeting. (Call for Abstracts/Submission Form). Participation by graduate and post-doctoral students and fellows is encouraged. The deadline for abstract receipt is April 30, 2012. Abstracts should be submitted by email to full conference brochure can be found here.

The professional meeting is being held in conjunction with a family meeting and natural history clinics at GGC’s Charleston office on July 27th and 30th. Dr. Sara Cathey of the Greenwood Genetic Center’s Charleston office is the Principal Investigator for the Natural History Study of the Lysosomal Diseases Network Consortium Grant supported by the NIH Office of Rare Diseases.

“GGC has a longstanding relationship with the patient advocacy group called ISMRD, the International Advocate for Glycoprotein Storage Disorders,” said Cathey. “We are thrilled to be the host institution for ISMRD’s Third International Scientific Workshop and Family Meeting in North Charleston.”

For additional information regarding this conference visit or contact Dr. Cathey.

About ISMRD: ISMRD is an internationally focused nonprofit organization whose mission is to advocate for families and patients affected by one of the Glycoprotein Storage Diseases: Alpha-Mannosidosis, Aspartylglucosaminuria, Beta-Mannosidosis, Fucosidosis, Galactosialidosis, Mucolipidosis II (I-Cell Disease), Mucolipidosis III (Pseudo-Hurler Polydystrophy), Schindler Disease and Sialidosis. These diseases are the ultra-orphans of the Lysosomal Storage Disease family, which encompass over 40 similar disorders, and currently have few treatments beyond symptomatic care. ISMRD’s advocacy efforts are not limited by borders, language, race or religion.

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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