2
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.
Center Membership
 To
date, the Center has 229 full members
and 91 associate members.
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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.
Center Leadership

Director: H. Lee Sweeney, PhD
Research Director: Jim Wilson, MD, PhD
Clinical Director: To be named

Program Areas and Heads:
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Internal Advisory Board
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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
Program Heads
Terry Fadem (Industry Advisor)
External Advisory Board

Industry, Advocacy, Government, and Academic Advisors
Major activities of the Center in progress:
1) 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-Chem have been reached.

Call for small molecule screening proposals
to be released on June 1, 2014
Major activities of the Center in progress:
2) Research grants programs
a) MPS I therapeutic development grants
b) 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”
10
SPIN FACTOR FOR
Hemophilia
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-hydroxypropylβ-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 Genetics
Smurfit 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
Speakers:
FIRST ANNUAL SPRING SYMPOSIUM
SMILOW CENTER
3400 CIVIC CENTER BLVD.
8:30AM -5:00PM
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
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
Dormandy Haemophilia 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.
Executive Vice-President and Chief Medical Officer,
Alnylam Pharmaceuticals, Inc.