2024 Agenda
1:00pm - 7:00pm
Registration
Save time Monday morning by picking up your badge early and join us for a welcome reception.
5:30pm - 7:00pm
Summit Welcome Reception
7:30am
Conference Registration and Continental Breakfast
Visit the Poster Hall and Exhibit Hall
8:30am
NORD’S Welcome & Summit Preview
Pamela K. Gavin – Chief Executive Officer
8:45am
Opening Patient/Caregiver Keynote
Speakers:
Tanita Allen, Rare Community Member
Maria Kefalas, PhD, MA, Founder, The Calliope Joy Foundation and Cure MLD
Maria Miller, Rare Community Member
9:15am
NIH Vision for Rare
Speaker:
Joni L. Rutter, PhD – Director of the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH)
9:40am
CEO Perspectives Panel
Industry leaders share their insights, hopes, and concerns that will help shape their decision-making at this pivotal moment in time.
Moderator: Patrick Collins – Vice President of Community and Corporate Affairs, NORD
Speakers:
Giacomo Chiesi – Head of Global Rare Disease and Member of the Board, Chiesi Pharmaceuticals
Brian Goff – Chief Executive Officer, Agios Pharmaceuticals
Kate Haviland – President and CEO, Blueprint Medicines
Rachid Izzar – Executive Vice President, Global Product Strategy & Commercialization, Biogen
Julie Kim – President, US Business Unit and US Country Head, Takeda
10:45am
Networking Break
11:20am
Embracing Innovation to Enhance Clinical Trial Success
Advances in science and technology have brought us to the brink of a new era in rare disease research. Experts discuss how best to apply and build upon these new capabilities in the way clinical trials are designed and conducted.
Moderator: Dr. Rachele Hendricks-Sturrup, DHSc, MSc, MA – Research Director, Real-World Evidence (RWE), Duke-Margolis Institute for Health Policy
Speakers:
P.J. Brooks, PhD, Deputy Director, Division of Rare Diseases Research Innovation, NCATS, NIH
Patrizia Cavazzoni, MD – Director, Center for Drug Evaluation & Research (CDER), U.S. Food & Drug Administration
Mat Davis – VP, Data Science, Jazz Pharmaceuticals
Maria Santaella, PhD(c), MSN, RN-BC, CPHON – Vice President of Research Strategy, National Bleeding Disorders Foundation
12:15pm
Lunch
1:30pm
Can We Make Gene Therapy More Accessible?
The promise of gene and cell therapies has brought great hope to the rare community, but access remains a huge challenge. How can we work together to make manufacturing more efficient and ensure equitable access to these life-saving treatments?
Moderator: P.J.Brooks, PhD -Deputy Director, Division of Rare Diseases Research Innovation, NCATS, NIH
Speakers:
David Barrett, JD – CEO, American Society for Gene and Cell Therapy (ASGCT)
Nicole Gaudelli – Entrepreneur in Residence, GV
Peter Marks, MD, PhD – Director, Center for Biologics Evaluation & Research (CBER), US Food and Drug Administration (FDA)
2:25pm
The Growing Role of Medical Devices
For both diagnosis and treatment, medical devices are a topic of increasing importance in the rare community. This panel will explore the outlook for creative new applications of device technologies to improve patient lives.
Moderator: Joseph Sapiente – Senior Vice President, Science and Technology, Medical Device Innovation Consortium (MDIC)
Speakers:
Rich Brennan, MA -Vice President, Federal Affairs, ALS Association
Michelle Tarver, MD, PhD – Interim Director, Center for Devices and Radiological Health (CDRH), US Food and Drug Administration (FDA)
Matt Wetzel – Partner, Goodwin Procter LLP
3:20pm
Networking Break
3:35pm
Balancing Cost, Innovation and Access
This session will bring diverse perspectives to the table for an honest conversation about innovation, access and a sustainable, affordable healthcare system.
Moderator: Heidi Ross, MPH – Vice President, Policy and Regulatory Affairs, NORD
Speakers:
R. Duane Clark – General Manager, U.S. Rare Diseases, Sanofi
Mary Dwight – Senior Vice President of Policy and Advocacy, Cystic Fibrosis Foundation
Lee Fleisher, MD, LLM – Principal and Founder, Rubrum Advising; Former CMS Chief Medical Officer and Director of the Center for Clinical Standards and Quality
Gemma Mayman – Vice President, Specialty Care Patient Solutions and Engagement Lead, Pfizer
Jason Spangler MD, MPH, FACPM – CEO, Center for Innovation & Value Research
4:30pm
Lightning Round Poster Presentations
Authors of the top selected poster abstracts will share their key findings.
5:00pm
Networking Reception and Poster Hall Reception
7:30am
Conference Registration and Continental Breakfast
Visit the Poster Hall and Exhibit Hall
8:15am
Fireside Chat: From Drug Approval to Patient Access
Moderator: Pamela Gavin – Chief Executive Officer, NORD
Speakers:
Robert M. Califf, MD, Commissioner of Food and Drugs, Food and Drug Administration (FDA)
Meena Seshamani, MD, PhD, Deputy Administrator and Director of the Center for Medicare at the Centers for Medicare & Medicaid Services (CMS)
9:00am
The Roar of Rare: Patient/Caregiver Keynote
How Advocating for My Child’s Care Helped Me Find My Voice in Research
Speaker: Mousumi Bose, PhD – Rare Community Member; Associate Professor, Department of Nutrition and Food Studies, College for Community Health, Montclair State University
9:10am
Bringing Research to Patients to Be More Inclusive
Bringing clinical research to where potential participants live, work and receive their medical care is critically important as we seek to address inequities in trial participation. This panel will talk about current initiatives to meet this challenge.
Moderator: Edward Neilan, MD, PhD – Chief Medical & Scientific Officer, NORD
Speakers:
Jim Palma – CEO, TargetCancer Foundation
Joni L. Rutter, PhD – Director, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health
Kristin Schneeman – Senior Director, FasterCures, Milken Institute Health
Jenifer Waldrop, MS – Executive Director, Rare Disease Diversity Coalition (RDDC)
10:10am
Breakout Sessions: Environment for Innovation
From the outlook for investment to public policy issues, this track will focus on how external factors may play a role in 2025 and beyond.
10:10AM - Policy Priorities in Rare for 2025 and Beyond
Key Congressional staff will discuss priorities in rare for 2025 and beyond.
Moderator: Heidi Ross, MPH – Vice President, Policy and Regulatory Affairs, NORD
Speakers:
Jordan Brossi – Senior Policy Advisor, Office of Congresswoman Anna G. Eshoo (CA-16)
Brian Connell – Vice President for Federal Affairs, Leukemia & Lymphoma Society
Jennifer Dexter – Vice President of Policy, National Health Council
Barrett Tenbarge – General Counsel for Ranking Member Cassidy, Senate Health, Education, Labor, and Pensions (HELP) Committee
11:00AM - Networking Break
11:20AM - How Investors See the Rare Space Now
Some market analysts have predicted a cooling of investor interest in rare diseases. This panel will explore the current and future outlook for investment in orphan product development.
Moderator: David Scheer – President, Scheer & Company, Inc.
Speakers:
Martin Mackay, PhD – Co-Founder and Executive Chairman, RallyBio
Sukumar Nagendran, MD – President of R&D, Taysha Gene Therapies
Maha Radhakrishnan, MD – Executive Partner, Sofinnova Investments
Tal Zaks, MD, PhD – Partner, OrbiMed
10:10am
Breakout Sessions: Harnessing the Power of Patients
How can we harness the power of patient data, perspectives and passion to drive success?
10:10AM - Enhancing the Power of Patient Data
External control arms, Real-World Evidence, clinical outcomes assessments and more will be part of this conversation about patient data as a primary driver of success.
Moderator: Gabrielle Rushing, PhD – Chief Scientific Officer, CSNK2A1 Foundation
Speakers:
Jill Kiernan – Executive Director, TBRS Community
Kimberly Smith, MD, MS – Senior Medical Advisor, Real-World Evidence Analytics, Office of Medical Policy, CDER, FDA
Rosa Sherafat-Kazemzadeh, MD – CBER Office of Therapeutic Products, Office of Clinical Evaluation
Yasmine Wasfi, MD, Ph – Executive Vice President, Head of Clinical Development and Clinical Operations, Savara
11:00AM - Networking Break
11:20AM - Exploring Strategies for Streamlining Trials
A panel of experts will discuss strategies for making clinical trials shorter, more patient-friendly and more likely to succeed.
Moderator: Samuel Mackenzie, MD, PhD – University of Rochester
Speakers:
Kendall Davis, MPH – Director, Advocacy & Engagement Strategy, Center for Rare Diseases, ICON
Dr. Lola Fashoyin-Aje, MD, MPH – Director of the Office of Clinical Evaluation (Cell and Gene Therapies), Super Office of Therapeutics Products(OTP), CBER, FDA
Catherine Pilgrim-Grayson, MD, MPH – Director of CDER Office of New Drugs, Division of Rare Disease and Medical Genetics, FDA
12:15pm
Lunch
1:30pm
Breakout Sessions: Diagnosis and Patient Care
How can we address continuing challenges in diagnosis and optimal delivery of care?
1:30PM - Opening Remarks from Patient/Caregiver
Speaker: Mayra Martinez – Rare Community Member
1:40PM - The Current State & Future Outlook for Newborn Screening
Newborn screening successes and challenges, inequities among states, and the outlook for the future all will be discussed.
Moderator: Allison Herrity, MPH – Senior Policy Analyst, NORD
Speakers:
Mei Baker, MD, FACMG – Professor, Division of Genetics and Metabolism, University of Wisconsin School of Medicine and Public Health; Director of Newborn Screening Program at Wisconsin State Laboratory of Hygiene
Joel Cartner, Esq. – Director, Access Policy, Muscular Dystrophy Association (MDA)
Holly Peay, PhD, MS – Senior Research Scientist and Director, Early Check Program, RTI
2:30PM - Quick Break
2:45PM - How Can AI Help the Rare Community NOW?
We hear a lot about the future of AI but what can it do to shorten the diagnostic odyssey, create pathways to treatments, and improve patient care now?
Moderator: Gregory Levine, JD – Ropes & Gray LLP
Speakers:
Qi Liu, PhD, MStat, FCP – Associate Director for Innovation and Partnership, OCP, OTS, CDER, FDA
Nara Sobriera, MD, PhD – Associate Professor of McKusick-Nathans Department of Genetic Medicine, Associate Professor of Pediatrics, Johns Hopkins University
Joseph Zabinski, PhD, MEM – VP and Head of Commercial Strategy and AI, OM1
1:30pm
Breakout Sessions: Pathways to Patient Access
Pricing and access issues become increasingly important as innovative new treatments become available.
1:30PM - Opening Remarks from Patient/Caregiver
Speaker: Guadalupe Hayes-Mota, MBA, MS, MPA – CEO, Healr Solutions, Steering Committee Member, MA RDAC
1:40PM - Navigating the Coverage Hurdles to Rare Disease Access
Moderator: Michelle Rice – Founder & CEO, Michelle Rice & Associates, LLC
Speakers:
Mike Baldzicki, CRCM – Chief Revenue Officer, Lyceum
Kellyn Madden, MS – Patient Engagement Manager, Friedreich’s Ataxia Research Alliance (FARA)
Sal J Morana, RPh, PhD, EVP – Pharmacy Benefits Lead, Alliant Employee Benefits
Lauren Walrath – VP, Public Affairs- North America, Kyowa Kirin, Inc.
2:30PM - Quick Break
2:45PM - Disparities Among States in Access to Genetic Testing
A panel of experts will discuss disparities in access to genetic testing and share thoughts on how to address this challenge.
Moderator: Josh Trent – Managing Principal, Leavitt Partners
Speakers:
Christal Delagrammatikas, PhD – Director of Research, Co-founder, Malan Syndrome Foundation
Fuki M. Hisama, MD, FACMG – Division of Medical Genetics, University of Washington School of Medicine
Holly Paparounis – Associate Director, Medicaid Market Access, GeneDx
3:40pm
Closing Plenary – Blue Sky Thinking: What Strategies Will Move the Needle Most for the Rare Community?
Creative thinkers from across the community will share their thoughts on key strategies to advance innovation and improve the lives of patients.
Speakers:
Abla Creasey, PhD – Executive Strategy Officer- Rare Disease, California Institute of Regenerative Medicine (CIRM)
Tom DiLenge – Senior Partner, Global Public Policy, Regulatory & Governmental Strategy, Flagship Pioneering
David Fajgenbaum, MD, MBA, Msc – Co-Founder & President, Every Cure
Hilary Marston, MD, MPH – Chief Medical Officer, U.S. Food and Drug Administration (FDA)
Tricha Shivas – Chief of Staff and Strategy, Foundation for Sarcoidosis Research
4:30pm
Closing Remarks
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