Catalyzing Rare Disease Research: The Transformative Power of Patient-Led Initiatives

“Early results from patient-led or patient-partnered tools and approaches piloted under the Rare As One project were also promising. The Rare Cancer Research Foundation pioneered a direct-to-patient tissue donation program that enabled 100 rare cancer patients to direct tissues obtained during surgeries to research, which led to the creation of more than 40 cancer research models.”

A compelling exploration by Tania Simoncelli, Vice President of Science in Society at the Chan Zuckerberg Initiative and a distinguished RCRF Advisor, discusses the profound impact of patient-driven research in the realm of rare diseases. The article, "From Bedside to Bench and Back,” serves as a beacon of understanding, shedding light on the innovative prowess as patient groups reshape the research landscape.

Simoncelli notes, "Patient groups are reinventing the tools of research to be more accessible and more scalable" reflecting the groundbreaking strides that are being made to amplify the potential of research initiatives. In a world where rare diseases affect millions worldwide, and treatments remain elusive, the article deeply resonates with us.

Similar to the patient-led organizations highlighted, the dedicated endeavors the Rare Cancer Research Foundation (RCRF) and Pattern.org come into focus. With shared determination, our mission focuses on advancing research and resources for rare cancers. A distinct facet of our approach involves direct engagement with advocates and individuals affected by rare diseases. RCRF has helped patients donate their tissue directly to researchers from over 115 hospitals, resulting in 58+ research models for rare cancers that have already provided countless research opportunities, scientific discoveries, and urgent hope. Whether we are supporting infrastructure for the benefit of every rare cancer patient, or ensuring a single patient gets access to a life-saving treatment, RCRF aims to infuse the patient voice into the core of our research priorities as we accelerate progress in understanding, treating, and curing rare cancers.

To read the full piece, click here: issues.org/bedside-bench-rare-diseases-czi-simoncelli.