Conference Agenda

18th Orphan Drugs & Rare Diseases 2022 Americas
Conference Day 1

Day 1: Tuesday - 29th November 2022

Kathleen Coolidge, Patient Advocacy, Pulse Infoframe


  • Impact of new innovations to patients and caregivers
    What difference do these recent innovations have made to their lives?
    What must be done to accelerate innovations and broaden access at the same time?
    What challenges still remain to increased equity for people living with a rare disease and their families?

Wendy Erler, Head of Patient Experience and Insights, Alexion Pharmaceuticals, Inc.


Neena Nizar, President & Founder, The Jansens Foundation

Tara J. Britt, Founder & President, Rare Disease Innovations Institute, Inc.

Craig Martin, CEO, Global Genes, President, Rithm Health

  • The importance of clinical trial readiness
  • Value of a network approach

Tiina Urv, Program Director, Office of Rare Diseases Research, NCATS

  • What innovative changes are coming in research, clinical development, manufacturing, registrational paths, and
    commercial models that will impact the rare disease community
  • Insights and recommendations for those preparing for their go-to-market
  • Stakeholders collaboration to continue fulfilling unmet needs?
  • What R&D strategies can be implemented to accelerate the market access for orphan drugs?
  • Challenges in bringing orphan drugs to patients after approval


Craig Martin, CEO, Global Genes


John Lagus, Executive VP Business Development, Tanner Pharma Group

Nicole Sweeny, Chief Commercial Officer, Praxis Precision Medicines

Raquel Cabo, Vice President, Global Commercial Strategy, Ovid Therapeutics

  • How an EAP aligns with orphan drug development and commercialization plans
  • Ethical considerations for EAPs in the Orphan Drug environment
  • The role of Real World Data and how it can integrate with EAPs
  • EAPs – outside traditional markets
  • Practical guide to initiating a successful EAP

Robert Donnell, Executive Vice President, Medicines Access, Smartway Pharma

  • Finding, engaging, and genetically screening patients outside of traditional academic sites can improve the patient
    experience, decrease time to diagnosis, and accelerate trial enrollment for hard to find rare disease patients.
  • Attendees will gain insights gleaned from our most impactful genetic screening programs, implement genetic testing programs and working collaboratively with patient advocacy groups.
  • Success in rare disease clinical trial enrollment and retention necessitates expanded access, more inclusive outreach strategies, and technology-driven solutions.

Ashley Cannon, PhD, MS, CGC, Clinical Program Manager, Life Sciences, InformedDNA


  • How is this advanced therapy fundamentally changing the way rare diseases patients are treated?
  • Improving clinical development by new-age clinical trial design and recruitment
    An effective framework for developing the delivery system for the next generation of medicine
  • Making manufacturing and commercialization viable
  • Unconventional payment models to ensure innovative treatment can be accessed by rare disease patients


Christof Marré, Principal, CMH Consulting


Kelly Athman, Sr. Director, Medical Affairs, InformedDNA

Monica L Weldon, President/CEO/Founder, SYNGAP1 Foundation

May Orfali, EVP and Chief Medical Officer, Sigilon Therapeutics, Inc.

Jennifer McNary, Exec. Director, Head, Patient Advocacy & Engagement, Fulcrum Therapeutics


  • LHON, a rare disease
  • Lumevoq clinical development and regulatory pathways
  • Main results of the pivotal studies
  • Key learnings

Magali Taiel, Chief Medical Officer, GenSight-Biologics

  • How allogeneic cell therapy can be a transformative treatment for rare diseases as well as for more prevalent diseases like Type 1 Diabetes
  • How to predict in pre-clinical studies an allogeneic environment
  • What are the lessons from the first Human studies in Hem A with allogeneic cell therapy
  • What are the main challenges

Rogerio Vivaldi, President, CEO, Sigilon Therapeutics Inc.

  • In vivo phenotypic screens identify therapeutic targets underlying common pathological problems in
    neurological disorders
  • Neurotrauma-related degeneration causes excitation/inhibition imbalance in spared nervous system tissue, but
  • KCC2-enhancing therapies can restore lost functions
  • KCC2-enhancing treatments are promising orphan drugs for rare neurological disorders involving
    excitation/inhibition imbalance and neuronal circuit disinhibition in the CNS

Shane Hegarty, Chief Scientific Officer & Co-Founder, AXONIS Therapeutics, Inc.

  • High sensitivity digital endpoints can provide unique disease insights
  • Regulators accept clinically meaningful digital endpoints for drug approval, when captured with valid and
    suitable technology
  • Health authority qualified digital endpoints can revolutionize pivotal trial design and post-approval disease

Paul Strijbos, Advanced Neurotechnology Innovation Leader, Roche

  • Challenges
  • Opportunities
  • Partnership – Patient Advocacy/Research community/Physician community

Sanjeev Luther, President, CEO & Chairman of the Board, Cornerstone Pharmaceuticals

  • Why Engage the FDA First?
  • Three Fundamental Pillars: – Advocacy/Awareness, Research, Legislative Policy
  • Assessing  Available Resources

Monica L Weldon, President/Chief Executive Officer, SYNGAP1 Foundation

Kathleen Coolidge, Patient Advocacy, Pulse Infoframe

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