7:00 – 8:15

Breakfast, Registration, and Poster Set-up

8:15 – 8:30

Welcome and Introduction

Review agenda, introductions

Peter Merkel, MD, MPH

Stephen Groft, PhD

8:30 – 9:00

“Challenges to conducting clinical research in rare diseases”

Set the stage for the whole day

Peter Merkel, MD, MPH

9:00 – 9:45

“Clinical trial design issues and options for study of rare diseases”

Studies of small sizes; trial design (open-label, multicenter, N-of-1, cross-over), etc. 

Jeffrey Krischer, PhD

9:45 – 10:15

“National resources/cores available for rare disease research”

CETT, Genetics Alliance, microarray cores, proteomic cores, many others

Rashmi Gopal-Srivastava, Ph.D.

10:15 – 10:45

Break

10:45 – 11:15

“The FDA and rare diseases: The Orphan Drug Act and The Office of Orphan Products Development”

Laws, regulations; Grants; Pathways to drug development and approval; Expanded access

Tan Nguyen, MD, PhD

11:15 – 11:45

“Working with the pharmaceutical/ biotechnology industry on rare disease research”

Provide industry perspective

Edward Kaye, MD

11:45 – 12:30

Panel: Funding options for rare diseases research

Includes FDA, NIH, industry, private foundations, and philanthropy.

J. Maciejewski, R. Sokol; T. Ngueyn, E. Kaye, J. Gretz,

12:30 – 1:30

Lunch

Afternoon Session

1:30 – 2:00

“Working with patient advocacy groups/Creating patient advocacy groups”

Theory but also practical tips

Mary Dunkle
NORD

2:00 – 2:30

“IRB/HIPAA issues unique to rare disease research”

Maintaining anonymity with rare disease
Use of demographic and registry data

Kathleen Paulus, CIP

2:30 – 3:30

Panel: Practical logistics of rare disease research

Registries, specimen repositories, recruitment and retention strategies

A Percy, MD; A. Myers; T. Ortel; R. Gopal-Srivastava

3:30 – 4:00

Break

4:00 – 4:30

“Career development in rare disease research”

Strategies for faculty development, promotion, and collaboration in rare disease investigation

Robert Griggs, MD

4:30 – 5:15

Panel: Career advice

Mentoring, funding, promotion, prioritization

M. Batshaw, M. New; M Knowles; B. Trapnell

5:15 – 5:30

Critical evaluation of day’s program

Written (anonymous) evaluation form with comments; open discussion

Attendees and Organizing Committee

Evening Session

6:00 – 7:30

Poster Session

Attendees, RDCRN PIs, Speakers, NIH Staff

All participants

7:30 – 9:00

Dinner with RDCRN PIs, NIH Staff, and Keynote Speaker

Keynote lecture

Francis Collins, MD, PhD