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Investing in Partnerships to Overcome Challenges in Rare Disease

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rare disease-partnerships-advocacy-patient centered-research

Partnerships are essential to advancing rare disease research, and the nonprofit organization Global Genes is redefining traditional partnerships through several of its programs. These initiatives bring new approaches to patient-centered research and highlight collaboration opportunities that may prove critical to overcoming the many hurdles that researchers and advocacy organizations encounter during this process.

Zohreh Talebizadeh, Ph.D.

Senior Director, RARE-X Research Program; Principal Investigator, RARE-X

With two decades of experience leading multidisciplinary research projects, Dr. Talebizadeh’s passion for patient-centered research led her to launch a unique initiative promoting the integration of patient perspectives in genetics research. Dr. Talebizadeh’s research endeavors include both rare and common disorders, with the focus on neurodevelopmental conditions.

Global Genes launched the RARE Compassion Program in 2014, pairing medical students with rare disease patients and families so they can learn from each other.

Medical school and clinical rotations often don’t prepare medical students for what they may encounter when examining or diagnosing patients with a rare disease, not to mention how to communicate effectively with their caregivers. In their essays for the 2023 David R. Cox Scholarship, medical students who won the scholarships described the patients they were paired with as “partners.” If healthcare providers and researchers look at patients and their caregivers as partners, the path to advancing rare disease research will be a smoother road to travel.

While the majority of its medical students and patient families are based in the United States, over 30 countries are currently represented, including Canada, the United Kingdom, Australia, Zimbabwe, and India. The potential to expand in other countries would exponentially increase the reach to patient populations and medical students around the world, and further eliminate barriers to diagnosis of rare diseases.

All In Rare

The All In.Rare collaboration launched this year with participation from Global Genes, RareKC, Community Health Council of Wyandotte County (Kansas City, Kansas), Alabama Rare, Salem Baptist Church (Kansas City, Kansas), and All Nations Church (Fairfield, Alabama) to assist rare disease communities that are impacted by social and health-related disparities. Through these local organizations, this community-based program will engage and support individuals, family members, and caregivers impacted by rare diseases. The goal is to enhance diversity, equity, inclusion, and belonging with care and research for those affected by a rare disease.

Through its RARE-X data collection research program, Global Genes works collaboratively with patient advocacy groups and patient advocates to collect and share patient-reported data for clinical research. Now with more than 6,000 participants across more than 60 disorders, the collected data serves as the largest data set for some rare disorders.

Data is stronger with large numbers, which is difficult to achieve with rare diseases because of the small number of patients in any individual rare disease. This interactive patient-centered data collection platform presents a fresh opportunity to tackle various challenges encountered in the rare disease space, including collecting data from those who are undiagnosed to help them reach a diagnosis more quickly, connecting data from multiple studies, and reaching patient populations in less accessible areas.

A new era

The journey to understand and address rare diseases demands a new era of collaboration — a paradigm shift in how the rare disease industry works together. Global Genes recognizes this shift and is actively reshaping the landscape by expanding on services in three areas: education, support, and research. Importantly, these expanded services align with the needs and priorities of the rare disease community, ensuring that the organization’s efforts resonate with those they aim to serve.

The industry must move beyond the traditional model of isolated efforts and limited access toward meaningful collaboration, where researchers, clinicians, industry leaders, policymakers, and — most importantly — patients work hand-in-hand. This shift isn’t just about access to resources; it’s about shared ownership, open communication, and a unified goal: propelling groundbreaking discoveries.

By breaking down silos, cultivating synergies, and fostering interactive collaborations, the partners involved in these initiatives will be able to tackle the numerous hurdles that have long hindered rare disease research.

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