CNBC Cures: Understanding rare disease

Rare Diseases: A Personal and Professional Commitment to Progress

Key Concepts: Rare diseases, Syngap1, neurodevelopmental conditions, genetic mutations (alleles), antisense oligonucleotide (ASO) therapy, clinical trials, patient advocacy, CNBC Cures initiative, John Crowley.

Introduction & Personal Story

Becky Quick, a CNBC anchor, publicly shares her personal experience with her daughter Kaylee’s diagnosis of Syngap1, a rare neurodevelopmental condition. This decision marks a shift in her public persona, integrating her personal life with her professional role to advocate for those affected by rare diseases. The initial shock of the diagnosis, received shortly before Kaylee’s third birthday and the onset of the COVID-19 pandemic, is vividly described. Quick recounts the emotional toll, recalling a first birthday party that felt like a “wake” due to Kaylee’s developmental delays. The initial struggle involved adjusting expectations – from hoping for a Fortune 500 CEO to simply wishing for Kaylee to walk, talk, and make a friend.

Understanding Syngap1 & its Impact

Syngap1 is defined as a neurodevelopmental condition stemming from a genetic mutation. Kaylee has one functioning copy of the SYNGAP1 gene and one non-functioning copy, resulting in only approximately 50% of the necessary SYNGAP protein for brain development. This protein is crucial for forming memories, as it facilitates the electronic signals between brain hemispheres. The lack of sufficient protein leads to developmental delays, autism (common in Syngap1 patients), and seizures. Kaylee also experiences apraxia, a condition where she understands concepts but struggles to translate those understandings into physical actions or speech. Quick explains that learning for Kaylee requires significant repetition due to the impaired memory formation process.

The Scale of Rare Diseases & the Need for Awareness

Quick highlights the surprising prevalence of rare diseases, stating that approximately 1 in 10 Americans (30 million people) are affected, with a global estimate of 400 million. She emphasizes that “rare isn’t actually all that rare at all.” This realization fueled her desire to leverage CNBC’s platform to raise awareness and connect individuals and organizations working in this field. She notes the feeling of isolation often experienced by those affected by rare diseases and the importance of building a supportive community.

CNBC’s “Cures” Initiative & Multi-Platform Approach

To address the challenges faced by the rare disease community, CNBC is launching a comprehensive “Cures” initiative. This includes:

• “The Path with Becky Quick” Podcast: A new podcast series featuring interviews with doctors, innovators, and parents, including Quick and her husband Matt Quail, to explore potential treatments and cures. The video version will also be available on YouTube.
• CNBC.com & Newsletter: A dedicated section on CNBC.com and a weekly newsletter providing the latest news and compelling stories related to rare disease innovation.
• In-Person Conference: An inaugural live conference in New York City on March 3rd, designed to bring together key stakeholders – investors, biotech/pharmaceutical executives, regulators, and legislators – to facilitate progress.

Quick emphasizes that CNBC’s audience is uniquely positioned to drive change due to their influence in the investment and regulatory spheres.

Scientific Advancements & Therapeutic Potential

The discussion delves into the scientific advancements offering hope for Syngap1 and other rare diseases. Specifically, antisense oligonucleotide (ASO) therapy is mentioned as a potential treatment. ASOs aim to increase the production of the missing SYNGAP protein. Clinical trials for ASO therapy for Syngap1 could begin as early as this year. The conversation highlights the rapid pace of scientific progress driven by advancements in artificial intelligence, CRISPR technology, and ASO therapies. However, the challenges of translating these advancements into accessible treatments for small patient populations (currently 1700 identified Syngap1 cases globally) are acknowledged. The importance of improved diagnosis and identification of these diseases is also stressed.

Inspiration from John Crowley & the Power of Advocacy

Becky Quick cites the story of John Crowley, whose children were diagnosed with Pompe disease, as a source of inspiration. Crowley, a marketing executive, successfully developed a cure for his children and subsequently sold his company for $4 billion. Quick notes that CNBC has already interviewed Crowley as part of their coverage. His story exemplifies the transformative power of patient advocacy and the potential for innovation when driven by personal commitment.

Challenges & Opportunities

Quick acknowledges the difficulties in navigating the rare disease landscape, particularly for those without the resources and connections she possesses. She emphasizes the need for increased support and access to information for all affected families. She also highlights the importance of continued research and development, as well as streamlining the process of bringing therapies from the lab to patients.

Conclusion

Becky Quick’s decision to share her family’s story represents a powerful call to action. By leveraging CNBC’s platform, she aims to raise awareness, foster collaboration, and accelerate the development of treatments and cures for rare diseases. The initiative underscores the importance of combining personal experience with professional expertise to address a critical unmet need and improve the lives of millions affected by these often-overlooked conditions. The timing is particularly opportune, given the rapid advancements in scientific research and the potential for groundbreaking therapies.