Exchange Forum

The Exchange Summit Supports Patient Organizations And Advocates With Insights, Introductions And Next Steps In Their Research Driving Journey.

RARE-X will be hosting its inaugural Exchange Forum in San Diego, CA, this September. The Exchange Forum supports patient organizations and advocates with insights, introductions, and next steps in their research-driving journey. 

  • Attendees will Hear from RARE-X leadership with progress reports and updates on technology, the research portal, key partnerships, scientific insights, and the platform road map. 
  • Attendees will Learn about innovations and opportunities in treatments [including Cell & Gene Therapy] and technology that could impact future disease community research.
  • Attendees will Meet with other community leaders, benefit from shared best practices, and learn about early research activities that are leading to measurable outcomes,

The summit will run from Wednesday, September 14 at 4:40pm to Thursday, September 15 at 12:45pm at Town & Country Hotel, San Diego (following the Global Genes Patient Advocacy Summit).

Town & Country Hotel
500 Hotel Cir N, San Diego, CA 92108
(619) 291-7131

RARE-X Patient Advocate Partner Organizations will have the opportunity to send two representatives from each organization to attend.

There is no cost to attend the forum. Any travel and lodging costs will be the responsibility of the attendee. Global Genes & RARE-X secured a discounted room rate for the Forum. Click here to book your room

Questions, please email

                                             Exchange Forum Agenda:


Wednesday, September 14th

Opening Keynote ‘When Rare Disease Becomes a BIG Data Opportunity’

Moderator: Morrie Ruffin, AAIH
Ryan Colburn – Pompe Patient and Innovator
Stacie Calad-Thompson – BioSymetrics
Robert Deans – Synthego

Can Big Data Supercharge Research for 10K Rare Diseases?

Kirk Lamoreaux, Cogenticity and Report Author
Wendy Erler, Global Advocacy, Alexion Astra Zeneca Rare Disease, RARE-X Board Member

Evening Reception Co-Hosted by RARE-X and Global Genes


Thursday, September 15th

RARE-X- Leveraging What’s ahead

Charlene Son Rigby, RARE-X CEO

The Future is Now: Realizing the Possibilities of Patient Driven Research

Wendy Erler, Global Advocacy, Alexion, RARE-X Board Member
Betsy Bogard, FOP Advocate, Ensoma, RARE-X Board Member
Julia Vitarello, Batten’s Advocate

N-of-1 Therapies

Moderator: Walt Kowtoniuk, RARE-X Board Chair, Third Rock Ventures
Luke Rosen – Founder
Tim Yu – Boston Children’s, N=1
Sarah Glass – nLorem
Chris Hart – Creyon Bio

RARE-X Open Data Science Challenge – Neuro + Case Study: ALS Kaggle Challenge

Presenter: Charlene Son Rigby, RARE-X

Case Study: Collaborative Research Network Commission for Complex Copy Number Variants
Moderator: Vanessa Vogel Farley, RARE-X
Yssa DeWoody, Ring14 USA
Bina Shah, Project 8p
Scott Demarest, Colorado Children’s

Built to Accelerate – disease characterization, progression models and research roadmapping – sponsored by RARE-X Corporate Advisory Council

Rachel Groth, BridgeBio
Karmen Trzupek, RARE-X
Wendy Chung, Columbia & Simons Searchlight

Innovation Roundtables

Practical Insights
Table: Community Engagement/Enrollment Strategies-Tom Hume, RARE-X
Table: Effective Researcher Collaborations – Scott Demarest, Colorado Children’s
Table: Pre-Competitive Consortia Models to Accelerate Research and Discovery, Karmen Trzupek, RARE-X
Table: Disease Concept Model: STXBP1 Case Study – Charlene Son Rigby, RARE-X
Table: The Criticality of Developing a Data Governance Strategy for the Long Game – Vanessa Vogel Farley, RARE-X
Table: Citizen Science – Who, What, When, Why and How-Luke Rosen,

Table: Research Roadmapping: Rachel Groth, BridgeBio
Table: Attracting Researchers – what you should be prepared with:  Julia Vitarello, Stop Batten
Table: The Importance of NH Data to support Cell & Gene Therapy- Wendy Chung, Columbia
Table: How to partner with industry in your NH Registry – Betsy Bogard
Table: Entrepreneur Bootcamp – Getting Involved: Yael Weis, Mahzi

Cell & Gene Therapy
Table: Partnering With Columbus Childrens, Gene Therapies – Laura Hameed, Executive Director
Table: Research Opportunities – California Institute of Regenerative Medicine
Table: ASO Nof1 Therapy Development – Opportunities to Partner with nLorem- Sarah Glass
Table: Accelerating Nof1 Research and Therapy Development– Tim Yu, Boston Children’s
Table: When is the right time to consider Nof1 Therapies– Chris Hart, Creyon Bio

Research & Drug Repurposing
Table: AI Driving Early Discovery – Glenn Morrison, Recursion
Table: Drug Repurposing and Partnering with Industry – Bruce Bloom, Healx
Table: Re-imagining and Scaling Drug Development for rare disease – Onno Faber, Rarebase
Table: AI for Drug Discovery – Accelerating Knowledge in Rare Disease– Lurong Pan, AInnocence
Table: Engineered Cell Libraries for Fast Target Discovery – Robert Deans, Synthego

Table: Opportunities for Community Data Analysis – Maria Picone, TREND
Table: Effective EHR Collection to Advance Natural History Data– Ciitizen/Invitae
Table: Neurodevelopmental Data Collaborations, What can we Learn – Jennifer Tjernagel, Simon’s Searchlight
Table: New Funding Models for Rare Disease Research – Alok Tayi, Vibebio


  *Agenda Subject to Change


N Lorem Foundation
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