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March 2023 Update: SKYCLARYS™ (Omaveloxolone) has become the first FDA-approved treatment for Friedreich’s Ataxia. You can learn more about SKYCLARYS™ at this link. This Snapshot was written in May 2020 after initial positive results were shared about Omaveloxolone. A new therapeutic compound shows promise to treat Friedrich’s ataxia. What is 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…
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…
Scientific research takes a long time: experiments are performed, clinical trials are run, and the data that’s generated has to be analysed and understood before it can be published. Together, this process does not happen quickly. Though people may not realise it, one step that takes a lot of time 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…
La recherche avance rapidement pour traiter les troubles neurologiques héréditaires de tous types, y compris les ataxies spinocérébelleuses. SCAsource a déjà étudié la science derrière la thérapie ASO. Ces maladies partagent une théorie commune selon laquelle la mutation de l’ADN conduit à la formation d’une protéine altérée qui est toxique. Read More…
Qu’est-ce qu’un trouble récessif ? Un trouble récessif est un trouble qui a un mécanisme de maladie spécifique. Pour qu’un trouble récessif se produise, les deux copies du gène responsable doivent être mutées pour qu’un patient présente des symptômes. Les ataxies qui suivent ce mécanisme de la maladie sont connues 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…
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