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…
Qu’est-ce que c’est? L’imagerie par résonance magnétique (IRM) est un type de technologie utilisé pour prendre des photos détaillées du corps. Il est couramment utilisé pour détecter des anomalies dans le corps, diagnostiquer des maladies et surveiller régulièrement les patients en cours de traitement. Il peut générer des images tridimensionnelles Read More…
Every organ in our body requires a constant supply of energy to function. Our brain and muscles, for instance, need energy to perform tasks such as thinking, walking, and running. The major energy generators in our cells are compartmentalized machines known as “mitochondria.” Mitochondria rely on a series of biochemical Read More…
It’s in our DNA If you were to unravel the tightly wound packages of our genome known as chromosomes, you would find long strings of DNA. The strings are made up of only four different building blocks, compounds abbreviated as adenine (A), thymine (T), guanine (G) and cytosine (C). Picture 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…
Today marks Rare Disease Day, which aims to raise awareness for the 300 million people around the world who live with rare diseases. Spinocerebellar ataxia, Friedreich’s Ataxia, and ARSACS are just a few of the of over 6000 rare diseases that have been identified. The main goal of raising awareness 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…
Embryonic and adult stem cells Stem cells are cells that provide new cells during growth, and replace cells that are damaged or lost during life. They have the following two important properties that enable them to do this: The ability to develop (differentiate) into many other, different cell types, for Read More…
Written by Dr. Brenda Toscano Márquez Edited by Dr. Ray Truant ARSACS researchers develop a better “measuring stick”, or disease severity index that can help better assess the progression of motor symptoms and compare different groups of ARSACS patients. How does your doctor know you are sick? In short: measurements. Read More…
To repurpose drugs is to find new ways that they can be applied to treat other conditions and illnesses. Although our knowledge of diseases is greater than ever before, the development of novel therapies has yet to catch up. Drug development is slow, expensive and risky. These challenges have made Read More…
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