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Opportunity

Opportunity. There are major opportunities for developing therapies for rare diseases. Industry interest in rare diseases has never been higher. Many industry programs are focused on developing small molecule and biological therapeutics targeting rare diseases. - Orphan Disease Act

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Opportunity

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  1. Opportunity • There are major opportunities for developing therapies for rare diseases. • Industry interest in rare diseases has never been higher. Many industry programs are focused on developing small molecule and biological therapeutics targeting rare diseases. • - Orphan Disease Act • - Gateway to other indications • Gene Therapy is positioned to transform the treatment of many rare diseases.

  2. Center Membership • To date, the Center has 229 full members and 91 associate members. • 184 members at Penn/CHOP • 45 members from other institutions, including members from 6 foreign countries • The 91 associate members are primarily Penn/CHOP trainees • In aggregate, the membership studies >200 rare diseases.

  3. Center Leadership • Director: H. Lee Sweeney, PhD Research Director: Jim Wilson, MD, PhD Clinical Director: To be named • Program Areas and Heads: • Metabolic Disorders - Jim Wilson, MD, PhD • Hematological Disorders – Kathy High, MD • Rare cardiovascular diseases – Dan Rader, MD • Ocular Disorders – Jean Bennett, MD, PhD • Neuromuscular Disorders – H. Lee Sweeney, PhD • Internal Advisory Board • Program Heads • Terry Fadem (Industry Advisor) • External Advisory Board • Industry, Advocacy, Government, and Academic Advisors

  4. Major activities of the Center in progress: • Drug/small molecule screening I. Cell-Based Drug Screens with NCATS (agreement in place) a. Repurposing screens that the Center contracts to have performed b. NCATS/Center Co-development grant program Chemical library screens with subsequent drug development - costs of screen and development covered by NCATS (competitive application) - investigator costs covered by Center II. Assay development and preliminary approved library screens with Wistar small molecule screening facility Contract with Wistar Molecular Screening Facility to help design screens that can be used in HT format and carry out initial screens III. Small molecule screens for altering Protein-Protein interactions or modulating enzyme activity Agreement terms with X-Chemhave been reached. • Call for small molecule screening proposals to be released on June 1, 2014

  5. Major activities of the Center in progress: • Research grants programs • MPS I therapeutic development grants • Rare disease research and therapy development grants • Co-funded by Advocacy groups, industry, and individuals. • The grants will be solicited in multiple Rare Disease areas, driven by participation of Advocacy groups. • Funding generated by the “Million Dollar Bike Ride”

  6. SPIN FACTOR FOR Hemophilia

  7. Improving the Process of Rare Disease Treatment Development • Emil D. Kakkis, • M.D., Ph.D. • Chief Executive Officer and President, Ultragenyx Pharmaceutical, Inc.

  8. 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

  9. 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

  10. 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.

  11. Exploration of AAV-Mediated Gene therapies for Inherited Ocular Disorders • Gwyneth Jane Farrar, • Ph.D. • Professor of Genetics • Smurfit Institute of Genetics • Trinity College, Dublin

  12. 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 DormandyHaemophiliaCentre • Royal Free Hospital

  13. Center for Orphan Disease Research and Therapy “Emerging Therapies for Rare Diseases” First annual Spring Symposium Friday May 2, 2014 SmilowCenter 3400 Civic center Blvd. 8:30AM -5:00PM • Speakers: • Emil D. Kakkis, M.D., Ph.D. • Chief Executive Officer and • President, Ultragenyx Pharmaceutical, Inc. • Jerry R. Mendell, M.D. • Director, Center for Gene Therapy, The Research • Institute at Nationwide Children’s Hospital • Forbes D. Porter M.D., Ph.D. • Senior Investigator, Program Head and • Clinical Director, NICHD, NIH • Edward G.D. Tuddenham, M.D. • Emeritus Professor of Haemophilia, UCL Katherine DormandyHaemophilia Ctr., Royal Free Hospital • Gwyneth Jane Farrar, Ph.D. • Professor of Genetics, Smurfit Institute of Genetics, • Trinity College, Dublin Ireland • Akshay K. Vaishnaw, M.D., Ph.D. • ExecutiveVice-President and Chief Medical Officer, • Alnylam Pharmaceuticals, Inc. Registration & Membership www.med.upenn.edu/orphandisease Info: 215-898-6111 or laversa@upenn.edu There is no cost to join or attend the symposium. • Join us as we explore: • “Emerging Therapies For Rare Diseases” • Symposium includes: • Breakfast, Lunch • Poster Session • Afternoon Reception

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