Відео

In this episode of UnravelingRare, listen to Cece's story and how her parents, Jaclynn and Dustin, are tirelessly working to help Cece and many other children with SPATA disorders. The SPATA Foundation: www.spatafoundation.org/ rareSHIFT: www.rareshift.org/unravelingrare

Learn about the challenges behind SPATA5 and SPATA5L1, which led to Mariah and Jaclynn starting the SPATA Foundation to help their children and many other patients with SPATA disorders. More about the SPATA Foundation: www.spatafoundation.org/ More about Unravel Bio's rareSHIFT: www.rareshift.org/

Follow these instructions to properly collect high-quality RNA from nasal swabs as part of your rareSHIFT repurposing study. www.rareshift.org

In our fifth episode of @UnravelBiosciences UnravelingRare Podcast we share the motivating story of Max, a boy with progressive KMT2B dystonia, who worked with his clinician and Unravel's rareSHIFT program to identify a repurposed drug for his disorder and saw significant recovery of lost capabilities. Learn about how his mother put in place unbiased assessments of his functional restoration, w...

In our fourth episode of @UnravelBiosciences UnravelingRare Podcast we speak with Manuela Mallamaci, Founder of the CHOPS Syndrome Foundation (fondazionechopsets.com/en/) and mother of a child with CHOPS Syndrome. Learn how the foundation was enabled by a strong network of mothers of CHOPS patients and some insightful clinicians. Manuela describes their effort to bring about a massive change in...

In our third episode, we speak with Kasey Edwards, Community Relations Coordinator at the Cure AP-4 Foundation (cureap4.org/) and mother of a child with SPG47, one of the four genes that make up AP-4 spastic paraplegias. Learn about the foundation's incredible work to tackle four disorders at once by finding shared treatments among them and by linking these ultra-rare disorders to less rare, an...

In our second episode, we speak with Ben and Arlene Chrisman and their son, Luke, who is one of very few boys with Rett syndrome. Learn about their particular challenges in a disorder mostly associated with girls and what they are doing to get Luke treatment to fight his unique condition. www.rareshift.org/

In our first episode of Unraveling Rare, Unravel's rareSHIFT Alliance Manager, Eleni Pitsiniaga, speaks with Maria Carrasquilla, founder of Rett Latina, and her daughter, Helena, about the challenges they face with Rett syndrome and the efforts Maria has undertaken to call attention to Rett syndrome across the Latin American region. www.rareshift.org/