RARE Drug Development Symposium: Fostering Successful Connections Between Stakeholders to Accelerate Progress

The 2022 RARE Drug Development Symposium kicks off June 8, and Global Genes is ecstatic about the speaker lineup for all of the sessions this year. Going with this year’s theme of disrupting innovation, Global Genes is going for a different approach with sessions this year. Formats will be more laid back and inclusive, with fireside chats to start the day, and workshop-style sessions with experts and peers throughout the day that will be offered at multiple times so you don’t miss any content. 

Fostering Successful Connections Between Stakeholders to Accelerate Progress

Working together can help rare communities go further, faster, but there can be challenges along the way. We will highlight several successful collaborations:
1) the Rare Epilepsy Network, a partnership between epilepsy organizations and academia,
2 ) the Epilepsy Research Roundtable which brings regulators and industry together to collectively address roadblocks,
3) the Epilepsy Learning Healthcare System (ELHS) which layers research on clinical practice to generate RWE and RWD, and
4) the NIH-funded Rare Disease Clinical Research Network (RDCRN), a collaboration between 20 teams of scientists, clinicians, patients, families, and patient advocates.

Yssa DeWoody, PhD
Ex Officio Chair, Rare Epilepsy Network
Cofounder and Director, Ring14 USA 

Yssa DeWoody, PhD, is the Cofounder and Director at Ring14 USA, a non-profit focused on improving the lives of those impacted by neurodevelopmental disorders on the 14th chromosome. This work is a labor of love motivated by her daughter, Marie, who was born with the ultra-rare Ring Chromosome 14 Syndrome. Yssa is true believer in collaboration as actualized by her commitment to several consortiums including Ring14 International (Cofounder), the Rare Epilepsy Network (Ex Officio Chair), Epilepsy Leadership Council, Epilepsy Learning Healthcare Systems, and the Commission for Neurodevelopmental CNVs (founding partner). 

Learn More:
RIng14USA
Epilepsy Leadership Council
Epilepsy Learning Healthcare Systems
Commission for Neurodevelopmental Disorders: Ethos and guiding principles for the commission

Brandy Fureman, PhD
Chief Outcomes Officer, Epilepsy Foundation 

Dr. Brandy Fureman, chief outcomes officer of the Epilepsy Foundation, ensures that the Foundation’s program activities in public health, education, and advocacy work together to result in better outcomes and quality of life for individuals and families living with epilepsies. She is also the principal investigator for the Foundation’s Cooperative Agreement with the CDC and directs the Coordinating Center for the Epilepsy Learning Healthcare System (ELHS), a network of centers that are using quality improvement methods, shared best practices, and co-production with patients and families to improve outcomes for people with epilepsy. 

Learn More:
Epilepsy Learning Healthcare System

Ilene Penn Miller, JD, LLM
Director, Rare Epilepsy Network

Ilene Miller is a thought leader in the rare epilepsy community as well as a caregiver. She serves as the Director for the Rare Epilepsy Network (REN) – 80+ organizations committed to improving outcomes for patients through collaborative research. She consults with Epilepsy Foundation and other nonprofits on strategic, program, and operation planning. She also served as the Epilepsy Leadership Council Advocacy Co-Chair on the 2020/21 NIH National Institute for Neurological Disorders and Stroke (NINDS) Curing the Epilepsies Conference. In 2019, she undertook a landscape analysis of the rare epilepsies engaging leaders of 40+ organizations. 

By 2019, REN had evolved into a network of 50+ organizations each representing a unique disorder collaborating with urgency on research toward improving patient care. Today, REN is a network of 80+ rare epilepsy collaborating across common goals. REN seeks to capitalize on its strength in numbers for otherwise individually rare diseases. 

Learn More:
Rare Epilepsy Registry Network
REN 80+ Members & Partners
REN Volunteer Leaders

The Rare Epilepsy Landscape Analysis (RELA) was initiated in 2018-2019 to better understand the explosion in rare epilepsy diagnoses and organizations. The RELA was commissioned by the Epilepsy Foundation and shared with the broader community. This first-of-its-kind comprehensive survey of rare epilepsy organizations included information about 44 rare epilepsy organizations’ founding, mission, staffing, infrastructure, funding, and more. The RELA identified many shared challenges, as well as opportunities for collaboration around research, information, support, professional education, and advocacy.

RELA Analysis
RELA  Appendix
Raring for Change (Epilepsy and Behavior, 2020)

Curing the Epilepsies is a conference that has been organized every seven years by the American Epilepsy Society (AES) and National Institute for Neurological Disorders and Stroke (NINDS) since 2000 to assess the research landscape in The Epilepsies. The meeting invites scientists, healthcare providers, and patient advocates, as well as representatives of governmental and private agencies. The conference recognizes the complexity of the epilepsies, the magnitude of the human burden, and the need for dedicated research focused on epilepsy. The resultant Epilepsy Research Benchmarks represent overall goals and concrete research priorities developed by and for the epilepsy research community. Again in 2021, the patient advocacy groups aligned under the auspices of the Epilepsy Leadership Council (ELC) to share testimony at the meeting, participate in its planning and collaboratively write  and publish an article advocating for innovative interventions to transform research toward improved outcomes and care for persons with epilepsy, including those living with rare, severe or complex epilepsy. 

Epilepsy Community at an Inflection Point: Translating Research Toward Curing Epilepsy and Improving Patient Outcomes

Tiina Urv, PhD
Program Director, Rare Diseases Clinical Research Network 

Tiina Urv is the program director for the Rare Diseases Clinical Research Network, a multidisciplinary international program in the Office of Rare Diseases Research at the National Institutes of Health that conducts research on about 200 rare diseases at more than 200 participating sites in 17 countries with more than 100 patient advocacy groups as research partners. She collaborates with 10 NIH Institutes, managing 20 consortia and a central Data Management Coordinating Center. Tiina also works with the NIH Common Fund Undiagnosed Disease Network. Her 16-year career at NIH spans management of basic to bio-behavioral research related to developmental disabilities and rare diseases.

Learn More:
Rare Diseases Clinical Research Network (RDCRN)
RDCRN YouTube Channel

Tiina Urv Staff Profile – Includes biography, research topics and selected publications.

Adeline Vanderver, MD
Program Director, Leukodystrophy Center of Excellence, Children’s Hospital of Philadelphia 

Leukodystrophies are a group of inherited degenerative diseases that affect the white matter in the brain and spinal cord. This collection of approximately 30 disorders is Adeline’s main research interest. She conducts translational research on leukodystrophies and leukoencephalopathies to refine clinical diagnostic tools and accelerate the development of therapeutic treatments.

Adeline and her team aim to uncover the genetic causes of these disorders, establish their molecular mechanisms, develop new diagnosis techniques and develop the next generation of therapeutic clinical trials through natural history and biomarker discovery studies. 

In addition to her clinical and research efforts, Adeline leads the Global Leukodystrophy Initiative, an advocacy group that includes parents, clinicians, and researchers, to raise disease awareness and ensure that patients receive appropriate social and medical support. 

Under her leadership, the multidisciplinary team at the Leukodystrophy Center of Excellence at CHOP, which she leads, is focused on creating new standards of care for children with leukodystrophies, by advancing leukodystrophy research and supporting and advocating for patients and their families.

Learn More:
Global Leukodystrophy Initiative: A Rare Disease Clinical Research Network Consortium
CHOP faculty profile

See other workshops and speaker lineups:
Disruptive Innovations in Clinical Trials Workshop
AI-Driven Screening Platforms and New Approaches to Therapeutics
Emerging Models & Partnerships