0:00 Intro to The Genetics Podcast01:00 Welcome to Noam and discussion of his motivation to drive rare disease forward03:00 Noam’s daughter Noga’s experience of rare disease, including an 8 to 12 month journey to diagnosis05:10 How the experience of his daughter receiving a genetic diagnosis motivated Noam to take change into his own hands10:12 How meeting other families impacted by rare disease led Noam to work on gene therapy for children living with primary immune deficiencies12:33 How Noga Therapeutics is aiming to reprogram blood stem cells and the potential impact on rare diseases15:22 Why it’s not yet possible to use the technology to correct gain of function mutations17:42 How Noga’s program is aiding treatment of multiple primary immune deficiencies22:25 The techniques the company uses in XLA to modify stem cells and enable expression of a functional copy of the BTK gene26:30 Why gene therapies don’t always provide a comprehensive solution or cure28:10 Bridging the gap between transformative therapies and the cost of delivering drugs to very small ultra-rare disease populations34:41 Noam’s history working in traditional Chinese medicine39:53 The importance of thinking holistically about health, from understanding g genetic root causes to considering how genes impact whole organ systems43:15 The collaborative nature of the rare disease community and how parents who want to use their personal experience to further research and advocacy can connect with Noam44:37 Closing remarks
