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X-WR-CALDESC:Events for National Ataxia Foundation
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DTSTART;TZID=America/Chicago:20250226T120000
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SUMMARY:NAF Science Showcase: Dr. Hübener-Schmid
DESCRIPTION:CENTRAL TIME ZONE \nExplore a past NAF research grant awardee’s funded study\, gaining scientific insights about their Ataxia research. \nDr. Hübener-Schmid will present the research\, “Development and Validation of a SIMOA-based mutant Ataxin-3 Immunoassay for biomarker studies in SCA3.” \nRegister: Click here.  \nResearch Lay Summary: \nDisease protein lowering are key therapeutic strategies for several neurodegenerative diseases including polyglutamine diseases (polyQ) like Huntington disease (HD) and Spinocerebellar Ataxias (SCA). For polyQ diseases which are caused by a monogenetic mutation\, reducing the amount of the disease-causing expanded disease protein in affected brain regions are predicted to reduce neurodegenerative processes in disease relevant brain regions and therefore\, clinical symptoms as well as slow down disease progression. Currently\, approaches lowering ataxin-3\, the disease protein in Spinocerebellar Ataxia Type 3 (SCA3)\, protein levels are already studied in first clinical phase one studies. Therefore\, highly sensitive and quantitative high-throughput techniques to measure specific low levels of ataxin-3\, the disease protein of SCA3\, in different (easily accessible) body fluids is an important need. Aim of this study was to develop and validate a new ultra-sensitive technique to measure mutant ataxin-3 protein level in easily accessible body fluids like plasma and serum. We successfully developed an SIMOA-based ultra-sensitive immunoassay\, which was able to discriminate between healthy controls and SCA3 mutation carriers by 100%. Additionally\, correlation to clinical data revealed a negative linear correlation between ataxin-3 protein level and age at onset. No correlation was found to clinical scores and disease severity. Therefore\, we successfully developed a new ultra-sensitive technology to measure very low protein levels of the disease protein ataxin-3 in SCA3 in easily accessible bio fluids. \nPast Showcases \nWant to see the recordings of past presentations? Visit www.ataxia.org/showcase to see  upcoming sessions or view past recordings. \n 
URL:https://www.ataxia.org/event/naf-science-showcase-dr-hubener-schmid/
LOCATION:Zoom Webinar
CATEGORIES:Virtual,Webinar
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