February 27, 2025 at 8:00 AM
— February 27, 2025 at 9:00 AM
Registration and Exhibit Booth/Poster Setup
February 27, 2025 at 9:00 AM
— February 27, 2025 at 10:00 AM
Registration and Exhibit Booth/Poster Viewing
February 27, 2025 at 10:00 AM
— February 27, 2025 at 10:10 AM
FDA-NIH Rare Disease Day 1 Overview
February 27, 2025 at 10:10 AM
— February 27, 2025 at 10:30 AM
February 27, 2025 at 10:30 AM
— February 27, 2025 at 10:45 AM
February 27, 2025 at 10:45 AM
— February 27, 2025 at 11:05 AM
NCATS Division of Rare Diseases Research Innovation (DRDRI) Update
Dominique C. Pichard, M.D., M.S.
February 27, 2025 at 11:05 AM
— February 27, 2025 at 12:05 PM
Session 1: Artificial Intelligence — Clinical and Regulatory Applications for Rare Diseases
Artificial intelligence (AI) is revolutionizing how rare diseases challenges are addressed in research and regulation. This session introduces AI principles and tools and discusses their growing impact within the rare diseases ecosystem and limitations of use. Attendees will gain foundational knowledge and learn about AI use across drug development and relevant applications for the rare diseases community. Presenters will then delve into two case studies that demonstrate AI use in rare diseases research.
Q&A will follow the panelist presentations.
Tala Fakhouri, Ph.D., M.P.H.
Nara Sobreira, M.D., Ph.D.
Vivek Rudrapatna, M.D., Ph.D.
February 27, 2025 at 12:05 PM
— February 27, 2025 at 1:50 PM
- Exhibits and Scientific Posters
- Art Exhibition
- Networking
February 27, 2025 at 1:50 PM
— February 27, 2025 at 2:05 PM
Rare Resource: Getting a Genetic Test
Julie Sapp, Sc.M., C.G.C.
February 27, 2025 at 2:05 PM
— February 27, 2025 at 2:20 PM
Rare Story: Corrective Genome Editing to Treat Hereditary Connective Tissue Disorders—A Patient-Scientist Perspective
February 27, 2025 at 2:20 PM
— February 27, 2025 at 2:45 PM
- Exhibits and Scientific Posters
- Art Exhibition
- Networking
February 27, 2025 at 2:45 PM
— February 27, 2025 at 3:45 PM
Session 2: Gene Therapy — Recent Approvals, Success Stories and Patient Perspectives
Gene therapy continues to transform the treatment landscape for rare diseases, offering hope to patients and families. This session will explore recent FDA gene therapy approvals and NCATS’ involvement with a recent gene therapy approval for aromatic l-amino acid decarboxylase (AADC) deficiency. Attendees also will engage in a thoughtful discussion about patient considerations when pursuing gene therapy.
Philip John (P.J.) Brooks, Ph.D.
Elizabeth A. Ottinger, Ph.D.
February 27, 2025 at 3:45 PM
— February 27, 2025 at 4:00 PM
February 27, 2025 at 4:00 PM
February 28, 2025 at 8:00 AM
— February 28, 2025 at 9:00 AM
Registration and Exhibit Booth/Poster Setup
February 28, 2025 at 9:00 AM
— February 28, 2025 at 10:00 AM
Registration and Exhibit Booth/Poster Viewing
February 28, 2025 at 10:00 AM
— February 28, 2025 at 10:10 AM
FDA-NIH Rare Disease Day 2 Overview
February 28, 2025 at 10:10 AM
— February 28, 2025 at 10:20 AM
Hilary Marston, M.D., M.P.H.
February 28, 2025 at 10:20 AM
— February 28, 2025 at 10:40 AM
Rare Resource: Brain and Tissue Donation — Why It Matters
February 28, 2025 at 10:40 AM
— February 28, 2025 at 11:40 AM
Session 3: Developing Treatments Through Innovative Trial Designs for Rare Diseases
Innovative clinical trial designs are paving the way for more efficient and effective drug development, especially for complex and rare diseases. This session will introduce the topic of innovative trial designs, and presenters will give an overview of two case studies of current ongoing, innovative clinical trials. This session will also discuss challenges regarding innovative trial designs.
Rebecca (Becky) Chiu, Ph.D.
Troy Torgerson, M.D., Ph.D.
February 28, 2025 at 11:40 AM
— February 28, 2025 at 12:00 PM
Rare Story: Neonates and Rare Diseases — Why Early Diagnosis and Approved Treatments Are Imperative
February 28, 2025 at 12:00 PM
— February 28, 2025 at 1:30 PM
- Exhibits and Scientific Posters
- Art Exhibition
- Networking
February 28, 2025 at 1:30 PM
— February 28, 2025 at 2:30 PM
Session 4: Ensuring Access Across the Rare Diseases Treatment Pipeline
This session will explore the critical stages of the rare diseases treatment pipeline and discuss strategies for ensuring equitable and efficient access at different phases. Panelists will discuss innovative approaches for encouraging investment in rare diseases research, addressing barriers to clinical trial participation and treatment access, and exploring sustainable payment models for groundbreaking therapies.
Q&A will follow the panelist presentations.
February 28, 2025 at 2:30 PM
— February 28, 2025 at 2:45 PM
Rare Story: The Full-Time Job of Living Rare—Advocacy, Resilience, and the Fight for Care
February 28, 2025 at 2:45 PM
— February 28, 2025 at 3:15 PM
- Exhibits and Scientific Posters
- Art Exhibition
- Networking
February 28, 2025 at 3:15 PM
— February 28, 2025 at 3:30 PM
February 28, 2025 at 3:30 PM
— February 28, 2025 at 3:45 PM
Rare Resource: RAREly Told Stories—How to Share Your Rare Disease Experience
February 28, 2025 at 3:45 PM
— February 28, 2025 at 4:00 PM
February 28, 2025 at 4:00 PM
