Explore the transformative journey of a Pediatric Rare Disease Geneticist, Cynthia Gubbels, MD, PhD, as they transition from the clinical realm of Boston Children's Hospital to the cutting-edge landscape of biotech innovation. Join us on Rare Advocates as we uncover the passion, perseverance, and promise driving this trailblazer's quest to unlock the mysteries of rare syndromes. Gain insights into the intersection of research, clinical practice, and biotech advancement, offering a beacon of hope to families, caregivers, and future medical leaders. Tune in for a compelling narrative of resilience and progress in pursuing rare disease solutions.

https://www.linkedin.com/in/cynthiagubbels/

💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS).

💙AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with and yet to be diagnosed with Aicardi-Goutières Syndrome using our learned experience and honoring those before us.

💚AGSAA is a 501c nonprofit foundation

💙Our Mission: Rescuing Potential. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life. We’re focused on accelerating research and providing timely emotional outreach and educational support alongside evolving clinical care recommendations to affected families.

💚 Socials: @agsadvocacy on all socials
💙 Podcast: https://anchor.fm/agsadvocacy/

#aicardigoutieressyndrome #disabilitiesawareness #raredisease

🎧 Audible: https://music.amazon.com/podcasts/ce67f9a8-3b3a-453b-a689-52db2feaf375/the-rare-advocates

🎧 Spotify: https://open.spotify.com/show/3S2K2zmVYauOgktU8G3Pdx

🎧 Apple Podcast: https://podcasts.apple.com/us/podcast/the-rare-advocates/id1653511092

🎧YouTube: https://www.youtube.com/channel/UCOBML-3m7Q_iWZW3fvItFgA

#aicardigoutieres #rarediseaseday #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia