CNBC Cures: Raising Awareness for Rare Diseases with Becky Quick

Launch of CNBC Cures Initiative

• 💡 CNBC Cures is a new initiative launched to raise awareness for rare diseases and improve outcomes for affected individuals.
• 🎯 The initiative aims to connect patients, doctors, innovators, and the public to foster progress in rare disease treatment and research.

Personal Journey with SynGAP 1

• 💖 Becky Quick shares her personal experience as a parent of a child, Kaylee, diagnosed with SynGAP 1, a rare neurodevelopmental condition.
• 🧠 SynGAP 1 affects brain development due to a deficiency in the SynGap protein, leading to challenges such as autism, seizures, developmental delays, and intellectual disability.
• 🗣️ Kaylee also experiences apraxia, making it difficult for her to control her body and articulate speech despite understanding.

The Scope of Rare Diseases

• 🌍 While individual rare diseases affect small patient populations, collectively one in 10 Americans lives with a rare disease, with half being children.
• 🤝 The initiative highlights that rare diseases are not as rare as they seem and emphasizes the importance of community support and shared learning.

CNBC Cures Resources and Events

• 🎧 A new podcast series, The Path with Becky Quick, explores stories related to rare diseases, featuring doctors, innovators, and parents.
• 🌐 The cnbc.com/cures website offers a platform for conversation, news, and a weekly newsletter on rare disease innovation.
• 🗓️ An inaugural live event will be held in New York City on March 3rd to bring together key stakeholders.

Advancements and Challenges in Treatment

• 🔬 Rapid scientific advancements, including AI, CRISPR, and ASO therapies, are accelerating research for rare diseases.
• 🧩 A significant challenge is translating these lab discoveries into treatments for patients, especially for conditions with very small patient populations like SynGAP 1 (1,700 identified globally).
• 🌟 The story of John Crowley, who found a cure for his children's rare disease and built a successful biotech company, serves as an inspiration for the initiative.