Fourth Annual Rare Disease Day Symposium, “Calcification Disorders – from Hardened Arteries to Soft Bones”
February 15, 2013
Date of Event: February 28, 2013
Organization: Sanford-Burnham Medical Research Institute
Location: Sanford-Burnham Medical Research Institute, Sanford Children’s Health Center, 10905 Road to the Cure, San Diego, CA 92121
In 2010, the Sanford-Burnham Medical Research Institute organized the first Rare Disease Day Symposium both to recognize Rare Disease Day and to present cutting-edge research taking place within our uniquely collaborative institutional framework.
Organized by Drs. Hudson Freeze and Yu Yamaguchi, the previous three annual symposia have focused on diverse diseases, with a heavy focus on glycosylation disorders. This year, Dr. José Luis Millán will assume responsibilities for the program, which will center on skeletal dysplasias and dystrophic calcification.
In particular, Dr. William A. Gahl, Clinical Director of NHGRI and Director of the NIH Undiagnosed Diseases Program, will give the keynote lecture on whole exome sequencing to identify rare disorders including the role of NT5E in vascular calcification and PXE; Hervé Kempf will talk about his work on the development of aortic calcification and MGP deficiency; Frank Rutsch will speak about his vast clinical experience with patients with GACI and Dr. Millán will speak about the development of pharmacological TNAP inhibitors, a new murine model of GACI, and ongoing efforts to use TNAP inhibitors to treat GACI and related diseases.
The afternoon will feature speakers covering different skeletal dysplasias. Michael Whyte has agreed to cover hypophosphatasia; Peter Byers will speak about osteogenesis imperfecta; Kenneth White will cover the role of FGF23 in autosomal dominant hypophosphatemic rickets, while Thomas Carpenter will speak about X-linked hypophosphatemic rickets. The final session will feature Eileen Shore speaking about fibrodysplasia ossificans progressiva, Maurizio Pacifici discussing multiple hereditary exostoses, and Matthew Warman presenting his research on Gorman’s Disease. The symposium will conclude with a roundtable session featuring advocacy group representatives.
This event is open to the public.
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