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…
Écrit par Dr. Ambika Tewari, Edité par Dr. Mónica Bañez-Coronel, Traduction française par: L’Association Alatax, Publication initiale: 22 novembre 2019 Des mutations dans la protéine huntingtine altèrent la réparation de l’ADN, causant des dommages importants à l’ADN et une expression génétique modifiée. Notre génome regroupe l’intégralité de notre matériel génétique, qui Read More…
Écrit par Dr David Bushart, Édité par Dr Hayley McLoughlin, Traduction française par: L’Association Alatax, Publication initiale: 3 janvier 2020 Une stratégie de traitement nouvellement proposée pourrait être efficace contre plusieurs formes d’ataxie spinocérébelleuse et d’autres troubles associés aux répétitions CAG. Lors de la réception d’un diagnostic initial d’ataxie spinocérébelleuse Read More…
Written by Dr. David Bushart Edited by Dr. Sriram Jayabal How can employment be made more accessible for ataxia patients? What barriers exist? A study of workers and non-workers with ataxia analyzes the benefit of employment, as well as how to reduce risk of injury. A job can often become Read More…
Written by Dr. Ramya Lakshminarayan Edited by Dr. Judit M. Perez Ortiz Cholesterol to the rescue: An alternative approach to treating SCA type 3 using gene therapy. Spinocerebellar ataxia type 3 (SCA3) is a movement disorder that is caused by genetic mutations in a protein named Ataxin-3. Neurons in the Read More…
The instructions our bodies need to grow and function are contained in our genes. These instructions are made up of tiny structures called nucleobases. There are four types of nucleobases in DNA: adenine (A), cytosine (C), guanine (G), thymine (T). By putting these four nucleobases in different orders and patterns, Read More…
Written by Dr. David Bushart Edited by Dr. Hayley McLoughlin A newly-proposed treatment strategy might be effective against several forms of spinocerebellar ataxia and other CAG repeat-associated disorders Upon receiving an initial diagnosis of spinocerebellar ataxia (SCA), a swarm of questions might enter a patient’s mind. Many of these questions Read More…
Written by Dr. Sriram Jayabal Edited by Dr. David Bushart Eye movement deficits occur ubiquitously in spinocerebellar ataxias, even at early disease states, highlighting their clinical importance. Imagine the different motor movements that you make in your everyday life. Many people think of actions that we perform using our hands Read More…
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