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SCA3

Spotlight: The Kuo Lab

Principal Investigator: Dr. Sheng-Han Kuo Location: Columbia University, New York, NY, United States Year Founded:  2012 What disease areas do you research? SCA1 SCA2 SCA3 SCA6 Tremor Essential Tremor What models and techniques do you use? Mouse models Post-mortem patient tissue Optogenetics Human physiology EEG (electroencephalogram) Neuromodulation Research Focus What is your Read More…

Failure to repair DNA damage may be linked to SCA3

Written by Dr. Ambika Tewari Edited by Dr. Maria do Carmo Costa Mutations in Ataxin-3 protein prevent the normal functioning of a DNA repair enzyme leading to an accumulation of errors Cells are bombarded by thousands of DNA damaging events each day from internal and external sources. Internal sources include Read More…

A promising biomarker to track disease progression in SCA3

Written by Dr. Ambika Tewari Edited by Dr. Gulin Oz Neurofilament light chain could provide a reliable readout of how far an SCA3 patient’s disease has progressed How often have you heard that the most effective way to treat a disorder is early intervention? In reality, “early” is not possible Read More…

Spotlight: The Neuro-D lab Leiden

Principal Investigator: Dr. Willeke van Roon-Mom Location: Leiden University Medical Centre, Leiden, The Netherlands Year Founded: 1995 What disease areas do you research? SCA1 SCA3 Huntington’s Disease Dutch – Cerebral Amyloid Angiopathy Alzheimer Disease What models and techniques do you use? Mouse Models hiPSC-derived stem cells models Post-mortem patient tissue Read More…

Targeting protein degradation to alleviate symptoms in MJD

Written by Ambika Tewari   Edited by Brenda Toscano Márquez Trehalose, a natural autophagy inducer shows promise as a therapeutic candidate for MJD/SCA3 Every cell has an elaborate set of surveillance mechanisms to ensure optimal functioning. As proteins are synthesized, errors can occur leading to misfolded proteins. These abnormal proteins can Read More…

Snapshot: What does dominant ataxia mean?

Ataxias can occur due to a multitude of reasons. One way a patient might acquire ataxia is from an accident or an injury – not as a result of genetics. On the other hand, a patient could also inherit a specific mutation (a genetic defect, in other words) from one Read More…

Saiba mais: O que são os modelos de Caenorhabditis elegans?

O que é C. elegans? Se você leu o título deste artigo e não fazia ideia do que é Caenorhabditis elegans, você não está sozinho! Caenorhabditis elegans, mais comumente conhecido como C. elegans, são vermes microscópicos que normalmente crescem até 1 mm de comprimento. C. elegans são naturalmente encontrados em Read More…

Terapia gênica validada em celulas estaminais SCA3 humanas

Escrito por Dr. Marija Cvetanovic, Editado por Dr. Sriram Jayabal, Traduzido para Português por Guilherme Santos, Publicado inicialmente em: 20 de março de 2020. Grupo de pesquisa em Michigan relata a criação do primeiro modelo de célula humana aprovado pelo NIH que reflete as características da doença SCA3 – defeitos Read More…

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