My Lessons From FA Also Help Me at Work

I often compartmentalize all the significant elements of my life, and my journey with Friedreich’s ataxia (FA) is no exception. I work eight hours a day and leave work behind for the other 16 hours. When it comes to the podcast I co-host, I set aside specific blocks of…

#IARC2017 – Small Molecules Mimicking Brain Factors Raise Frataxin Protein Levels in FA Mice in Study

Administering small molecules that mimic factors naturally found in the brain to a mouse model of Friedreich’s ataxia increased levels of frataxin expression in both the brain and heart — two organs highly affected in people with the disease. The study, “Neurotrophic factor and cytokine mimetics as new potential therapeutic agents for Friedreich’s…

#IARC2017 – Protein-producing Frataxin Gene Delivered to Brain, Heart of Primates in Gene Therapy Study

New viral vectors were found to effectively transfer a normal and protein-producing frataxin gene into major tissues affected by Friedreich’s ataxia — including the brain and the heart — in non-human primates, a new study showed. The study was presented by Holger Patzke of Voyager Therapeutics at IARC 2017 in a presentation Saturday titled “Intravenous delivery of AAV gene therapy to…

Brain May Alter Cerebral Functions to Compensate for Motor Deficits in Friedreich’s Ataxia

Researchers detected alterations in cerebral brain functions of patients with Friedreich’s ataxia and believe they may mitigate the impact of motor impairments of the disease. The study, “Cerebral compensation during motor function in Friedreich ataxia: The IMAGE-FRDA study,” was published in the journal Movements Disorders. Friedreich’s ataxia (FA), the most common inherited ataxia is characterized by motor…