2011 Rare Disease Day Symposium

Rare Disease Day 2011
at Sanford-Burnham Medical Research Institute

Co-sponsored by Enobia Pharma


February 25, 2011
9 a.m. – 5:00 p.m. PT
La Jolla, California


Discovering new therapies for rare diseases requires exchange among scientists, physicians, affected patients and their families, support groups, granting agencies, the pharmaceutical industry, and philanthropists. This annual event brings these stakeholders together from around the country to share in each other’s successes and challenges and discuss the future of rare disease research.

Missed the event? You can still learn and engage:

Blog Posts


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Video: Speakers

Hudson Freeze

Hudson Freeze, Ph. D.

Director of the Genetic Disease Program
Sanford-Burnham Medical Research Institute

Welcome
Steve Groft

Steve Groft, Pharm. D.

Director of the Office of Rare Disease Research (ORD) at the National Institutes of Health (NIH)

KEYNOTE
Rare Diseases: Changing Perceptions
Kevin Campbell

Kevin Campbell, Ph.D.

Howard Hughes Medical Institute, University of Iowa

Molecular Basis of Glycosylation-deficient Muscular Dystrophy and Approaches to Therapy
William Balch

William Balch, Ph.D.

The Scripps Research Institute

Role of Proteostasis in Rare Disease
Emil Kakkis

Emil Kakkis, M.D., Ph.D.

President & Founder of Kakkis Everylife Foundation

Developing Treatments for Rare Diseases: Overcoming the Challenges to Translation to Human Use
Peter Robinson

Peter Robinson, M.D.

Institute for Medical Genetics, Universitätsklinikum Charité, Berlin, Germany

Exome Sequencing for Disease-Gene Discovery: Mutations in PIGV Cause HPMR Syndrome
Jannine Cody

Jannine Cody, Ph.D.

University of Texas Health Science Center, Founder & President The Chromosome 18 Registry & Research Society, San Antonio, Texas

Parent, Advocate, Researcher (The View From My Parachute)
Brandon Wustman

Brandon Wustman, Ph.D.

Director of Preclinical Biology, Amicus Therapeutics

Pharmacological Chaperones for the Treatment of Fabry Disease
Patrick Smits

Patrick Smits, Ph.D.

Orthopedic Surgery Children’s Hospital, Boston

Membrane Trafficking in Skeletal Development and Disease
Hudson Freeze

Hudson Freeze, Ph.D.

Director of the Genetic Disease Program
Sanford-Burnham Medical Research Institute

Progress in Glycosylation Disorders
Yu Yamaguchi

Yu Yamaguchi, M.D., Ph.D.

Sanford-Burnham Medical Research Institute

Consequences of Genetic Deficiency of Heparin Sulfate: Multiple Hereditary Exostoses and Neurological Symptoms

Additional Speakers

Michael P. Whyte, M.D.

Shriners Hospitals for Children, St. Louis

Bone-Targeted, Enzyme Replacement Therapy for Infants and Children with Hypophosphatasia


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Press


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#RareDiseaseDay Tweets

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Scientist Chat with Professor José Luis Millán, Ph.D.


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