What is Aicardi-Goutieres Syndrome (AGS)? Centering Advocacy: Understanding the Impact on Families скачать в хорошем качестве

What is Aicardi-Goutieres Syndrome (AGS)? Centering Advocacy: Understanding the Impact on Families

What is Aicardi-Goutieres Syndrome (AGS)? Understanding the Impact on Families was presented by Dad Advocate, Patrick Winters, at the Aicardi Goutieres Syndrome session of the 2023 ULF Family Conference. In this video we will cover: What is Aicardi Goutieres Syndrome? How does AGS impact families? What causes Aicardi Goutieres Syndrome? How does Aicardi Goutieres Syndrome work? What treatments are available for Aicardi Goutieres Syndrome? What's on the horizon for Aicardi Goutieres Syndrome? Presented at the AGS session of the 2023 ULF Family Conference (https://agsaa.org/2023-ulf). Chapters: 0:00 Intro by Patrick Winters 0:47 What is Aicardi Goutieres Syndrome? 2:04 Meet the faces of AGS 4:25 How does Aicardi Goutieres Syndrome impact families? 7:01 Symptoms and Clinical Features - https://agsaa.org/family-and-physicia... 10:44 The AGS Scale: Neurologic Severity - https://agsaa.org/news/2023/3/15/the-... 14:19 Genetic Basis: AGS Genes 19:06 AGS as a Leukodystrophy 22:55 Diagnosis & Genetic Testing 26:06 Newborn Screening (NBS) - https://agsaa.org/nbs 28:55 Treatment: JAK Inhibition (JAKi) - https://agsaa.org/jaki 32:51 Barriers to JAKi Access 35:26 Emerging Therapies 38:36 Clinical Trials - https://agsaa.org/clinical-trials 40:25 Help us make Progress!! 💚The Aicardi Goutieres Syndrome Advocacy Association works to improve the lives of individuals and families living with Aicardi-Goutieres Syndrome (AGS). 💚AGSAA is a 501(c)(3) nonprofit, charitable 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 #aicardigoutieres #raredisease #rarediseases #leukodystrophy #symptomsofleukodystrophy #dystonia #raresyndrome