Support Patients with Rare Diseases Through Data Sharing

Support Patients with Rare Diseases Through Data Sharing

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Why this petition matters

Started by Stefanie Leonard

Transparent data sharing will be required to unlock the potential of genetic therapy for orphan diseases. Patients are waiting.

We can now decode an individual's entire DNA sequence for <$1000. This technological advance fundamentally alters our understanding of human illness, but also highlights critical unmet needs: individuals receiving life-threatening diagnoses for which no treatments exist. Worse, for many of these individuals, their conditions are too rare to attract commercial interest. Thankfully, powerful new gene-directed technologies (e.g. antisense oligonucleotides, siRNAs, gene therapy, and gene editing) are emerging to offer hope. These therapeutic technologies can even be customized to specific genetic variants, enabling the creation of a next generation of precise, individualized medicines.

Individualized medicines offer hope, but as with any new medical technology there are accompanying challenges and risks. To learn how best to develop and manage individualized medicines, we, the undersigned, believe that open and transparent data sharing will be required. Such sharing should encompass:

  • Full clinical results from individualized treatment trials (including both anticipated outcomes as well as unexpected side effects)
  • Individualized drug designs (even if ineffective)
  • Protocols for preclinical drug development and clinical evaluation, to allow results to be harmonized, aggregated and compared

Sharing will allow physicians to react quickly to new developments on behalf of the patients they care for, iteratively refining best practices for clinical management. Sharing will also teach us what aspects of drug design are most predictive of clinical success. Such learnings will be the scientific foundation for data-informed design tools to democratize access to these medicines. Patient privacy can be protected via data federation and establishing processes for community oversight of data access.

Fundamentally, we believe that open sharing is the best way to honor the patients and families who volunteer to participate in these trials. Each contribution is precious. To make individualized medicines routine, we need to learn all we can from every one.


The N=1 Collaborative 

Please join Julia Vitarello, Winston Yan, Tim Yu, Richard Finkel, Jonathan Watts, Annemieke Aartsma-Rus, Roger Paxton, Tori Suslovitch, Scott Demarest, Rebecca Schule, Stephanie Coury, Margot Cousin, Art Krieg, Charlene Son Rigby, Lauren Black, Jane Nikles, Keith Gagnon, Holm Graessner, Joe Katakowski, Christine Swenson, Gholson Lyon, Nianwei Lin, Christian Schubert, Daniel MacArthur, Harvey Levy, Wen-Hann Tan, Daniel O'Reilly, Ronald Buijsen, and many others in signing our pledge.




255 have signed. Let’s get to 500!