2012 Rare Disease Day Symposium

Third Annual Rare Disease Day Symposium:
Identifying and Treating Rare Disorders

February 24, 2012
9:00 a.m. – 5:15 p.m. PT
10905 Road to the Cure
La Jolla, California map


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.

The 2012 event, organized by Dr. Hudson Freeze, focused on Glycosylation-Based Disorders: Discovery, Patients, and Progress Toward Treatments. The keynote speaker was Dr. Eric Green, director of the National Human Genome Research Institute (NHGRI) at the NIH.

Symposium Flyer

11"x17" | 8.5"x11"

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Video: Speakers

Hudson Freeze

Hudson Freeze, Ph. D.

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

Welcome

John Reed

John Reed, M.D., Ph. D.

CEO
Sanford-Burnham Medical Research Institute

Welcome

Eric Green

Eric Green, M.D., Ph.D.

Director, National Human Genome Research Institute, NIH

KEYNOTE
The Human Genomics Landscape: From Base Pairs to Clinical Applications
Marjan Huizing

Marjan Huizing, Ph.D.

National Human Genome Research Institute

N-acetylmannosamine (ManNAc) or Sialic Acid as Therapy for Disorders of Hyposialylation

Thorsten Marquardt

Thorsten Marquardt, M.D.

University of Münster, Germany

The Sugar Pill – Treatment of Congenital Disorders of Glycosylation


Michael Jackson

Michael Jackson, Ph.D.

Sanford-Burnham Medical Research Institute

“Disease in a Dish” Drug Screens for Dystroglycanopathies


F. Sessions Cole

F. Sessions Cole, M.D.

Washington University in St. Louis

Exome Sequencing for Novel Disease Gene Discovery in Families with Rare Mendelian Phenotypes

Christoph Klein

Christoph Klein, Ph.D..

Ludwig Maximilian University of Munich, Germany

Novel Rare Defects of the Human Immune System – from Genes to Therapy

Dimitri Krainc

Dimitri Krainc, M.D., Ph.D.

Massachusetts General Hospital, Boston

Common Pathways in Neurodegeneration: Focus on Lysosomes


Q & A

Q&A: Disorders of Glycosylation

Panel Discussion




Yu Yamaguchi

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

Sanford-Burnham Medical Research Institute

Heparan Sulfate, Hereditary Multiple Exostoses, and Autism:
Insight from a Rare Disease for a Common Disease

Hudson Freeze

Hudson Freeze, Ph.D.

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

The La Jolla Collaboration on Glycosylation Disorders

Panel Discussion

Philanthropy in Rare Disease Research

Panel Discussion





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