Improving the Process of Rare Disease Treatment

Development

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

Chief Executive Officer and President, Ultragenyx Pharmaceutical, Inc.

Progress Toward Molecular Based Therapies for

Neuromuscular Disease

Jerry R. Mendell, M.D.

Director, Center for Gene Therapy

The Research Institute at Nationwide Children’s Hospital

Development of a 2-hydroxypropyl-

β-cyclodextrin therapeutic trial for Niemann-Pick

disease, type C1

Forbes D. Porter M.D., Ph.D.

Senior Investigator, Program Head

and Clinical Director, NICHD, NIH

Development of a Novel RNAi Therapeutic, Patisiran, for the

Treatment of TTRmediated Familial Amyloidotic

Polyneuropathy (FAP)

Akshay K. Vaishnaw, M.D.,

Ph.D.

Executive Vice-President and Chief Medical Officer,

Alnylam Pharmaceuticals, Inc.

Exploration of AAV-Mediated Gene therapies

for Inherited Ocular Disorders

Gwyneth Jane Farrar, Ph.D.

Professor of GeneticsSmurfit Institute of Genetics

Trinity College, Dublin

Gene Therapy for Haemophilia B  

UCL/St Jude's Trial Update at 4 Years

Edward G.D. Tuddenham, M.D.

Emeritus Professor of Haemophilia,

UCL Katherine Dormandy Haemophilia Centre Royal Free Hospital