NAF has launched a petition on Change.org calling on the FDA to prioritize treatment options for rare diseases with urgent unmet needs, including Spinocerebellar Ataxia (SCA).
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Polymerase chain reaction, or PCR, is a commonly used laboratory technique that was invented in the 1980s. The method has many applications in different fields, ranging from identifying individuals in forensic science, detecting pathogens in water supply, and genetic testing in medicine. PCR works by first obtaining a sample that Read More…
You may have heard that nerve cells (or neurons) in the brain use electrical activity to communicate with one another. The proteins responsible for creating these electrical signals are called ion channels. How do neurons use these electrical signals to communicate with one another in a meaningful way? A good Read More…
DNA repair is an important topic when talking about of neurodegenerative disorders. The amount of biochemical stress the brain experiences increases naturally as we age. Some connections have been made between the amount of stresses on the brain and the age people develop neurodegenerative disorders. Many of these natural stresses Read More…
What is DNA damage? As we go through life, our DNA undergoes a lot of stress, which can ultimately lead to DNA damage. The different stressors that can cause DNA damage are environmental factors such as UV light, radiation, and certain toxins. Additionally, DNA damage can be caused by metabolic Read More…
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…
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