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…
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…
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…
Written by Dr. Maria do Carmo Costa, Edited by Dr. Hayley McLoughlin Collaboration between researchers in Portugal and the United Kingdom discover that a canola oil by-product shows promise, corrects MJD/SCA3 and Parkinson’s Disease symptoms in animal models. Isolated compounds or extracts (containing a mixture of compounds) from certain plants are Read More…
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…
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…
Écrit par Dr Sriram Jayabal, Édité par Dr David Bushart, Traduction française par: L’Association Alatax, Publication initiale: 20 décembre 2019 Les déficits de mouvement oculaire se produisent de manière omniprésente dans les ataxies spinocérébelleuses, même aux premiers stades de la maladie, soulignant leur importance clinique. Imaginez les différents mouvements moteurs Read More…
What are C. elegans? If you read the title of this article and had no idea what Caenorhabditis elegans are, you are not alone! Caenorhabditis elegans, more commonly known as C. elegans, are microscopic worms that typically grow up to 1 mm in length. C. elegans are naturally found worldwide Read More…
Written by Frida Niss Edited by Dr. Hayley McLoughlin One drug to treat them all: an approach using RNA interference to selectively lower the amount of mutant protein in all polyglutamine diseases. Work by a group in Poland shows initial success in Huntington’s Disease, DRPLA, SCA3/MJD, and SCA7 patient cells. Read More…
Written by Dr. Marija Cvetanovic Edited by Dr. Sriram Jayabal Research group in Michigan report the creation of the first NIH-approved human cell model that mirrors SCA3 disease features – cellular defects that, after gene therapy, show improvement Spinocerebellar ataxia type 3 (SCA3) is a dominantly-inherited, late onset genetic disease Read More…
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