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RNA-seq is a technology that has been used more and more in recent years to study both basic biology and disease. It’s a powerful tool has enabled scientific discovery at an unprecedented rate. But what exactly is RNA-seq? And, more importantly, what can it tell us? RNA-seq is short for Read More…
A pesquisa científica leva muito tempo: experimentos são realizados, ensaios clínicos são executados e os dados gerados precisam ser analisados e compreendidos antes de serem publicados. Juntos, esse processo não acontece rapidamente. Embora as pessoas possam não perceber, uma etapa que leva muito tempo entre a geração de dados e Read More…
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…
