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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To function properly, our body depends on many essential processes that are moderated by molecules created within us. Creating these crucial molecules, also called proteins, involves multiple steps and precursor molecules (Figure 1). In the first step, the DNA, which serves as the reference blueprint and contains the vital information Read More…
Have you ever thought about why doctors tell us to eat protein-rich food? Why eating proteins is so important for our health and wellbeing? Well, it is because of what they consist of and how important proteins are to maintain our body functions under control. Amino acids are organic chemicals Read More…
Disease-relevant research is often first conducted in animal models such as mice. This is done to investigate the underlying disease mechanisms and to test promising treatment strategies before moving into clinical studies. The parallel rod floor test is an assay to measure motor coordination difficulties in mice. In the case Read More…
Mass spectrometry, also known as “mass spec”, is a very useful analytical tool that is often used in science to determine the masses of different compounds in a sample. Mass spec has a variety of applications but frequently in biological sciences. It is used to determine the identity and abundance Read More…
Written by Dr. Celeste SuartEdited by Priscila Pereira Sena An international group of researchers developed a new tool for looking at large datasets of spinocerebellar ataxia clinical information. Spinocerebellar ataxias (SCAs) are the most common form of dominantly inherited ataxia worldwide. Since SCAs are rare diseases, it can be hard Read More…
Meta-analysis refers to a research process. You might think of it as a ‘Cliff’s Notes’ summary that compiles, evaluates, and synthesizes all of the individual research reports that were completed by the others. Using statistics, a meta-analysis synthesizes the findings of multiple similar scientific studies to produce an overall result. Read More…
Escrito por Cristina (Yi) Peng Editado por la Dra. Hayley McLoughlin Traducción: Dra. Frida Loria La Escala Internacional Cooperativa de la Ataxia (del inglés International Cooperative Ataxia Rating Scale, ICARS) es una escala que se utiliza para evaluar el grado de discapacidad en pacientes con ataxia cerebelosa. Fue desarrollada en Read More…
Induced pluripotent stem cells or iPSCs are adult stem cells that can be transformed into different types of tissues or organs. This research can be used to study different disease mechanisms. Many multicellular organisms like us come from a fertilized egg cell, the zygote, which divides into more and more Read More…
Written by Paige Blair Edited by Larissa Nitschke & Celeste Suart What are adeno-associated viruses? Adeno-associated viruses, also known as AAV, are a type of virus that infects humans without causing a serious disease response. These viruses possess the unique ability to deliver DNA to specific cells in living organisms. Read More…
Many daily tasks, such as writing or buttoning a shirt, require fine motor skills. One aspect of fine motor skills is muscle strength. In order to write, for example, you need to grip the pencil with the appropriate amount of force. Ataxia can involve a loss of control over fine Read More…
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