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2013 Rare Disease Day Symposium
Fourth Annual Rare Disease Day Symposium
Calcification Disorders - from Hardened Arteries to Soft Bones
February 28, 2013
8:30 a.m. – 5:30 p.m. PST
10905 Road to the Cure
La Jolla, California map • directions
Sanford-Burnham’s successful series of Rare Disease Day symposia is based on the concept that treatment of rare diseases requires participation and exchange among all stakeholders—scientists, physicians, affected patients and their families, support groups, granting agencies, industry, and philanthropists.
This year's event is organized by José Luis Millán, Ph.D. The keynote speaker will be William A. Gahl, M.D., Ph.D., Clinical Director of NHGRI and Director of the NIH Undiagnosed Diseases Program.
Video available soon
Watch this page for videos of the individual presentations. We will post as they become available.
Symposium Flyer 11"x17"
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Missed the event? You can still learn and engage: |
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Blog Posts
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Rare Disease Day 2013: live webcast
February 28 is Rare Disease Day and you’re invited to join our fourth annual Rare Disease Day Symposium by live webcast.
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3 common health conditions that are benefiting from rare disease research
By investigating what happens when something unusual goes wrong in the human body, we are learning new things about the way our genes...
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Session 1: Diagnosis and Treatment of Vascular Calcification
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Program
Registration - 8:00 a.m. - 8:30 a.m. |
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Session 1
Chair: José Luis Millán, Ph.D.
Diagnosis and Treatment of Vascular Calcification
KEYNOTE
The NIH Undiagnosed Diseases Program: New insights using genomic methodologies
William A. Gahl, M.D., Ph.D.
Clinical Director, NHGRI
Director, NIH Undiagnosed Diseases Program
New insights into the development of aortic calcification and MGP deficiency
Hervé Kempf, Ph.D.
Researcher, Université de Lorraine, France
Generalized arterial calcification of infancy and pseudoxanthoma elasticum: Two faces of the same coin
Frank Rutsch, M.D.
Professor, Muenster University Children’s Hospital, Germany
Phosphatase inhibitors for the prevention and treatment of medial vascular calcification
José Luis Millán, Ph.D.
Professor, Sanford-Burnham Medical Research Institute
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Lunch - 11:30 a.m. - 12:30 p.m. |
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Session 2
Chair: Hudson Freeze, Ph.D.
Pathophysiology and Management of Soft Bones
Update on bone-targeted enzyme replacement therapy for hypophosphatasia
Michael P. Whyte, M.D.
Medical-Scientific Director, Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children
Recessively inherited osteogenesis imperfecta and the biology and medicine of defects in collagen processing
Peter H. Byers, M.D.
Professor, Departments of Pathology and Medicine (Medical Genetics), University of Washington
FGF23: a common denominator in metabolic bone diseases
Kenneth E. White, Ph.D.
Associate Professor of Medical and Molecular Genetics, Indiana University
X-linked hypophosphatemia 2013: a clinical update of the prototype renal phosphate wasting disorder
Thomas O. Carpenter, M.D.
Professor of Pediatrics (Endocrinology) and of Orthopaedics and Rehabilitation and Clinical Professor of Nursing
Director, Yale Center for X-Linked Hypophosphatemia
Medical Director, Hospital Research Unit
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Break - 2:30 p.m. - 2:45 p.m. |
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Session 3
Chair: Yu Yamaguchi, M.D., Ph.D.
Pathophysiology and Management of Soft-Tissue Ossification
Heterotopic bone formation in fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH)
Eileen M. Shore, Ph.D.
Cali and Weldon Research Professor, University of Philadelphia
MHE: Pathogenic mechanisms and prospects for therapies
Maurizio Pacifici, Ph.D.
Director of Research, Division of Orthopaedic Surgery, The Children’s Hospital of Philadelphia
Genetic skeletal diseases caused by non-heritable mutations, such as Gorham-Stout and CLOVES
Matthew L. Warman, M.D.
Director, Orthopedic Research Laboratories, Boston Children’s Hospital
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Panel Discussion
Chair: Charlene Waldman
Calcification Disorder Advocacy Group Representatives
Becky Mock
President, XLH Network
Tiffany Ferry
President, Lymphatic Malformation Institute
Craig Eaton
President, MHE Research Foundation
Sarah Ziegler
Founder, MHE Research Foundation
Deborah Sitting
Founder, Soft Bones
David Heaps
Founder, Patient, HPP Choose Hope
Tracy Smith Hart
CEO, Osteogenesis Imperfecta Foundation
Jack Kelly
President, Lymphangiomatosos & Gorham's Disease Alliance
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Can't Make it?
Watch a live webcast of the 2013 Rare Disease Day Symposium. |
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Blog Posts
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Today is Rare Disease Day
February 29 is the rarest day of the year and also Rare Disease Day.
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5 research areas bringing us closer to personalized medicine
Keynote speaker Dr. Eric Green, director of the National Human Genome Research Institute, outlined five active research areas...
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When the disease is only half the battle...
Jennifer Yashari, M.D., both a doctor and a patient, will represent the Neuromuscular Disease Foundation...
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Third Annual Rare Disease Day Symposium
Join us in La Jolla, Calif. on February 24, 2012 for an exchange among all rare disease stakeholders...
Read Full Article
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Press
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Discovered Gene For Rare Disorder May Save Boy’s Life
SAN DIEGO — About 7,000 people in the United States have a rare genetic linked disease. Half of those cases affect children. Here is the story of one of them.
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