Rare Drug Development Symposium

April 29, 2024 – May 1, 2024

Register now See Agenda

Innovative Ideas from Next Generation Change-Makers

The RARE Drug Development Symposium, hosted by Global Genes and the Orphan Disease Center of the University of Pennsylvania, equips advocates with the knowledge, skills and connections they need to advance therapy development for their communities. This year’s theme is Innovative Ideas from Next Generation Change-Makers.

Can’t make it to Philadelphia?

Have questions about this event? Email [email protected].

* Global Genes does not sell conference/participant information or user data.

What to expect from 2024 keynotes and sessions:

* Interactive Groups, Resource Fair & RARE Research Roadmap

* How Advocates are Shifting the Paradigm to Push Past Limits

* Rethinking Clinical Trials

* Patient-Led Data Initiatives

Rare Drug Development Happens Year-Round

Global Genes provides educational resources to help advocates and organizations become better equipped to work with researchers and industry partners throughout the drug development process.

Rare Research Roadmap: This toolkit was designed to help advocates, individuals, families, and organizations better understand some of the potential routes to treatment and some of the key concepts that are part of these processes to work with researchers and industry partners throughout the drug development process.

Event Speakers

Opening Keynote: Shifting the Paradigm to Push Past Limits
April 30, 9:00 – 9:45 am ET

Advocates are dramatically altering the landscape of rare research and reducing the timeline for rare disease therapy development. What is it that allows some orgs to move faster, be more nimble, use resources effectively and blaze new paths? Is there a matrix that can help you determine what will work for you?

Closing Keynote: Fireside Chat with Dominique Pichard
May 1, 2:45 – 3:45 ET

What new solutions are emerging to accelerate translational research in rare disease? Global Genes CEO chats with Dominique Pichard, Director of the Division of Rare Diseases Research & Innovation at NCATS, about how her unique experience as a physician, rare Mom and advocate will inform her approach to leading innovation in rare disease research at NCATS.

More speakers for the 2024 RARE Drug Development Symposium are being added — check back soon to see what sessions they will be presenting!

Betty Cabrera, MPH

Gene Therapy Initiative

Jeff D’Angelo

CHAMP1 Research Foundation

Scott Demarest, M.D.

Children’s Hospital Colorado

Yssa DeWoody, Ph.D.

Ring14 USA

Jennifer Farmer

Friedreich’s Ataxia Research Alliance

Benjamin Forred, MBA, ACRP-CP

Sanford Research

Alexandra Gillett, Ph.D.

Wiedemann-Steiner Syndrome Foundation

David Jacoby, MD, PhD


Casey McPherson

To Cure A Rose Foundation

Manoj Malhotra, M.D.

Ovid Therapeutics

Katherine Maynard


Dominique Pichard

National Center for Advancing Translational Sciences (NCATS), NIH

Charlene Son Rigby

Global Genes

Cynthia Rothblum-Oviatt, Ph.D.

FDA Rare Diseases Team

Tania Simoncelli

Science in Society, Chan Zuckerburg Initiative

Zohreh Talebizadeh, PhD

Global Genes

Ramona L. Walls, PhD

Critical Path Institute (C-Path)

Ashley Winslow, PhD

Odylia Therapeutics

Expert Office Hours

Get answers to your questions by scheduling a one-to-one session with one of our experts on topics such as data collection, research strategy, therapy development, and engaging with the FDA. Appointments will open in March for registered attendees.

Tuesday, April 30, 1pm & 4:30pm
*Not all experts are available for all office hours.

Resource Fair

Wednesday, May 1, 2024
1:00 – 2:30 pm

The Resource Fair is designed to help rare disease community leaders explore partnering options for laboratory, gene therapy, cell therapy, biological modeling, data collection and computational services. 

Through informal, small-group conversations with clinical and research service providers and peers, rare disease leaders will get answers to their questions and gain knowledge of options available so they can make informed decisions, choose the best partner for their needs, and put their research strategies into action. 

skyline of the city of Philadelphia

Plan Your Visit

Should you need hotel accommodations, please use the information below to book your reservation.

Sheraton Philadelphia Downtown
201 North 17th Street
Philadelphia, Pennsylvania 19103

The conference room block has closed. Please check with the hotel for current rates and availability.

Have questions about this event?
Email [email protected].

Exhibitor Booths

An opportunity to connect and engage with more than 200 advocates, patients, researchers, and partners in the rare disease community.

Learn More Become an Exhibitor
Attendees at the 2022 RARE Drug Development Symposium in Philadelphia, Pennsylvania

Advocate Support

Applications for stipends are now closed

Support is available to individual patients, close family and friend advocates in the RARE disease community, or staff (paid/volunteer) of RARE disease nonprofit organizations or support groups.  

Domestic and international individuals are eligible to receive Advocate Support.

Please note: It is likely that the amount of the Advocate Support will not fully cover all costs associated with the symposium. If you receive support, you will still be responsible for booking your own travel and lodging.


Leveraging Community Insights to Map the ALSP Journey: Misdiagnosis and Genetic Testing (Holly Rutherford)
Synthesizing the Present and Imagining the Future of SMOC1 Research (Dani Beiden)
Use of data retrieval tool (Chilibot) to establish gene connections to scoliosis within COMBINEDBrain (Rachel Heilmann)
Infusing Equity in Preclinical Research and Development (Cara Purdy)
Empowering Leigh Syndrome Families (Sophia Zilber)
Harnessing Artificial Intelligence Machine Learning in Rare Diseases (Lori Verton)
Developing PTH Receptor Inverse Agonist (PTH-IA) as Treatment of Patients with JMC (Richa Lomash)
Enabling Metabolic Disease Research with DNA-Encoded Chemical Library Screening: case study on HAO1 (Jingyi Wang)
RARe-SOURCETM: An Integrated Bioinformatics Resource for Rare Diseases (Elizabeth Ottinger)
Advancing Treatments for Rare Diseases Through Collaborative Partnerships with the NCATS Therapeutic Development Branch (Yu-Chih Lin)
A Qualitative Descriptive Case Study of the Duchenne Muscular Dystrophy Clinical Research Partnership (Jennifer Davis)
Discovering New Therapies for NALCN-Related Disease (Jeremy Tanner)
Diagnosis and Management of Glycogen Storage Disease Type IV (Natacha Pires)
Antisense Oligonucleotide Therapies for Rare Diseases at NCATS (Atena Farkhondeh Kalat)
How clinical trial inclusion criteria are failing PKU patients and risking exhaustion of the eligible patient population (Claire Oliver)
Project Mercury: A patient-driven global collaboration to bring treatments to patients with FSH Muscular Dystrophy (Mark Stone)
Cancer risk in Simpson-Golabi-Behmel Syndrome: Case Series and Literature Review (Alex Nisbet)


Interested in supporting the RARE Drug Development Symposium?

Gold Sponsor


Silver Sponsors

travere logo

Bronze Sponsors


Partner Sponsors

Amicus Therapeutics
Chiesi global rare diseases
Spark Therapeutics

Looking Back: 2023 RARE Drug Development Symposium

Watch videos from last year’s sessions, or take a peek at the agenda.

RARE Drug Development Symposium Advisory Council

Benjamin Forred, MBA, ACRP-CP

Sanford Research

Maya Chopra, MBBS, FRACP

Boston Children’s Hospital

Gabrielle Rushing, PhD

CSNK2A1 Foundation

Jeanette McCarthy, MPH, PhD

Precision Medicine Advisors

Amy Raymond, PhD, PMP

Worldwide Clinical Trials

Jennifer Tjernagel


Cara Weismann, Ph.D.

Orphan Disease Center