PPT-Ataxia Biomarkers and Why They’re Important

Presented by Dr Puneet Opal Dr Hayley McLoughlin A Virtual Event March 1719 2022 DISCLAIMER 2022 AAC A Virtual Event March 1719 PRESENTER DISCLOSURES Dr Puneet Opal Northwestern University. Dr Rakesh Shukla. Professor Of Neurology. Definition. Ataxia (Gk. Taxis = Order; means lack of order). Ataxia denotes a syndrome of imbalance and . incoordination involving gait, limbs, and speech and . (Louis-Bar syndrome). Tauris Claiborne. The DDR cascade leads to DNA repair or apoptosis. Domain Structure of Human ATM. Autophosphorylation. of ATM at serine 1981 is required for stabilized retention to . Mike Chapman. University of Cambridge Department of Haematology. Novel agents have improved survival. What is a biomarker?. “A characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention”. Dr Rakesh Shukla. Professor Of Neurology. Definition. Ataxia (Gk. Taxis = Order; means lack of order). Ataxia denotes a syndrome of imbalance and . incoordination involving gait, limbs, and speech and . My Journey with Ataxia Michael Cammer Downingtown, PA Disclaimer The information provided by speakers in any presentation made as part of the 2015 NAF Annual Membership Meeting is for informational use only. Dalmo. . Mendonca. Neuroscience. April 1st, 2011. Overview. What is up with . polyglutamine. ?. Cerebellar Ataxia & Digestion?. Is stem cell treatment within our reach?. Polyglutamine. Alone?. Mutations that cause repeat . Dra. Nelly . Luza. Residente Neurología Infantil . HCSBA- Universidad de Chile. SUI- Enero 2017. Introducción . Caffarelli. M.. . Topical Review Acute . Ataxia in Children: A Review of the Differential . Swedish Neuroscience Institute. Seattle, WA. DISCLAIMER. PRESENTER DISCLOSURES. Pravin Khemani, MD, FAAN. The following personal financial relationships with commercial interests relevant to his presentation existed during the past 12 months. Optimist. Department of Biochemistry, Molecular Biology and Biophysics. Institute on Biology of Aging and Metabolism. lniedern. @. umn.edu. Utility of mice in biomarker discovery. Strength . of mice. Susan L. Perlman M.D.. Clinical Professor of Neurology. David Geffen School of Medicine at UCLA. Disclaimer. The information provided by speakers in any presentation made as part of the 2016 NAF Annual Ataxia Conference is for informational use only.. Professor of Neurology. ATAXIA CLINIC. Oriented to diagnostic process more than therapeutic. New patient evaluations. Complete history and physical exam, past . hx. , ROS. Common problems in ataxia: gait, speech, upper limb problems, visual symptoms.. Friedreich’s ataxia research update. Therapeutic targets in FA. Clinical research. Trials in FA. Taking part in research. International ataxia research conference 2017. Overview. Ataxia. Mutated. gene in FA switched off. Dr Julie Greenfield. Forward with Hope . Overview. Ataxia UK Research strategy. FA therapeutic strategies. Latest FA trials. Taking part in research. Ataxia UK Research strategy. Launched mid 2018. Aim: . News from the Johns Hopkins Ataxia Center 2019 e Ataxia Center recently celebrated its 10th year of providing patients with ataxia and their families’ care and support in a multidisciplinar