Rare Disease Diagnostics

The Challenge

Diagnosing a rare disease accurately and quickly remains a key challenge facing patients with these disorders and families around the world.

The client wanted to improve the diagnostic process with the goal of advancing patient care, in collaboration with key stakeholders globally.


Our Solution

  • Identified key stakeholders to participate in the first collaboration summit (RxRE) focused on rare disease diagnosis with key stakeholders, including leaders from the patient and medical communities, geneticists, data technologists, and the broader healthcare industry.

  • Provided strategic guidance to the client in identifying key participants and defining the value proposition of RxRE to resonate with external stakeholders.

  • Conducted comprehensive research to understand current rare disease diagnosis initiatives and identified areas of opportunity for the client to establish leadership.

  • Assisted with preparation for and facilitation of RxRE, including coordination with steering committee members and preparation of meeting materials.

  • Drafted a report outlining key takeaways and opportunities, proposed solutions, and next steps, including immediate projects for the client to lead with select external partners.


Benefit to the Client

  • Comprehensive Landscape Awareness: Swiftly gained insight into the external landscape of rare disease medical, policy, and technology domains.

  • Gap Identification and Partnership Potential: Acquired a thorough understanding of existing gaps and promising opportunities for forging new collaborations.

  • Credible Industry Leadership: Successfully established the client as a credible industry leader within medical, patient, and technology communities, positioning them to spearhead rare disease diagnosis initiatives.

  • Positive Event Reception: RxRE, garnered positive feedback from participants as a groundbreaking multi-stakeholder industry gathering concentrating on rare disease diagnosis. This achievement positions the client to further enhance its leadership role in the realm of rare disease diagnosis, ultimately advancing patient care.

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Financing of Gene Therapies-BIO