2013 Rare Disease Day Symposium

Rare Disease Day Sanford Children's Health Research Center

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 mapdirections


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"

Blog Posts

Session 1: Diagnosis and Treatment of Vascular Calcification

Chair: José Luis Millán, Ph.D.


William A. Gahl

William A. Gahl, M.D., Ph.D.

Clinical Director, NHGRI
Director, NIH Undiagnosed Diseases Program

KEYNOTE
The NIH Undiagnosed Diseases Program: New insights using genomic methodologies
Hervé Kempf

Hervé Kempf, Ph.D.

Researcher, Université de Lorraine, France

New insights into the development of aortic calcification and MGP deficiency

Frank Rutsch

Frank Rutsch, M.D.

Professor, Muenster University Children’s Hospital, Germany

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: Two faces of the same coin
José Luis Millán

José Luis Millán, Ph.D.

Professor, Sanford-Burnham Medical Research Institute

Phosphatase inhibitors for the prevention and treatment of medial vascular calcification



Session 2: Pathophysiology and Management of Soft Bones

Chair: Hudson Freeze, Ph.D.

Michael Whyte

Michael Whyte, M.D.

Update on bone-targeted enzyme replacement therapy for hypophosphatasia

Medical-Scientific Director, Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children
Peter Byers

Peter Byers, M.D.

Professor, Departments of Pathology and Medicine (Medical Genetics), University of Washington

Recessively inherited osteogenesis imperfecta and the biology and medicine of defects in collagen processing
Kenneth White

Kenneth White, Ph.D.

Associate Professor of Medical and Molecular Genetics, Indiana University

FGF23: a common denominator in metabolic bone diseases
Thomas Carpenter

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

X-linked hypophosphatemia 2013: a clinical update of the prototype renal phosphate wasting disorder


Session 3: Pathophysiology and Management of Soft-Tissue Ossification

Chair: Yu Yamaguchi, M.D., Ph.D.

Eileen Shore

Eileen Shore, Ph.D.

Cali and Weldon Research Professor, University of Philadelphia

Heterotopic bone formation in fibrodysplasia ossificans progressiva (FOP) and progressive osseous heteroplasia (POH)
Maurizio Pacifici

Maurizio Pacifici, Ph.D.

Director of Research, Division of Orthopaedic Surgery, The Children’s Hospital of Philadelphia

MHE: Pathogenic mechanisms and prospects for therapies
Matthew L. Warman

Matthew L. Warman, M.D.

Director, Orthopedic Research Laboratories, Boston Children’s Hospital

Genetic skeletal diseases caused by non-heritable mutations, such as Gorham-Stout and CLOVES


Panel Discussion

Panel Discussion

Calcification Disorder Advocacy Group Representatives

Chair: Charlene Waldman



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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