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Written by Tala Ortiz Edited by Celeste Suart, PhD Ever wonder if experiences early in life impact symptoms of a genetic disease? Researchers found that genetics isn’t the only thing to consider in SCA6 Does the environment play a role in genetic diseases? That is the question these authors aim to answer in the context Read More…
When faced with a serious illness and no effective treatment, patients may look to experimental therapies as a last resort. Normally, patients can only access experimental drugs or other investigational medical products through clinical trials. Unfortunately, not everyone can access a clinical trial when they need it. Some live too far Read More…
Written by Ross Pelzel Edited by Dr. Larissa Nitschke New mouse studies show that mutant ataxin-2 causes dramatically more damage in older animals, revealing aging as an independent driver of disease severity In Afonso et al. 2022, the authors set out to understand how age influences the development of symptoms in spinocerebellar ataxia Read More…
Why do we need mouse models for disease research? Mouse models are crucial for understanding human diseases. They allow researchers to study how diseases develop and to test potential treatments in ways that wouldn’t be possible in humans. But how do scientists create mouse models that mimic specific diseases? One widely used Read More…
Written by Yujia Li Edited by Celeste Suart, PhD Walking test in a hospital is not the same as walking at home. Wearable sensors show that real-world walking is more variable than in the hospital. We don’t usually think about how we walk until walking starts to feel different. Walking actually takes more effort than we realize. In spinocerebellar ataxia (SCA) patients, changes Read More…
Written by Élyse Zadigue-Dubé Edited by Priscila Pereira Sena New research in SCA6 mouse models suggests boosting BDNF-TrkB signaling could change the game. Is there a world where an SCA6 diagnosis does not equate to a life sentence of motor incoordination? A study by Cook and colleagues investigated a signaling Read More…
A computer tomography (CT) scan, also called a CAT scan, is a diagnostic imaging procedure that uses X-rays and a computer to help doctors see inside your body. CT scans provide detailed, cross-sectional pictures of bones, soft tissues, and organs that doctors can use to detect problems like injuries, infections, Read More…
Written by Anastasiya Potapenko Edited by Priscila Pereira Sena New clues into SCA1: RNA gets trapped inside toxic ataxin-1 clumps in brain cells, disrupting the production of proteins and contributing to disease. To develop treatments for human diseases such as spinocerebellar ataxia type 1 (SCA1), researchers need models that reflect Read More…
Our DNA (deoxyribonucleic acid) serves as a genetic blueprint for building and maintaining our tissues. This complex molecule contains the information needed to build proteins, written in a code made up of four chemical bases: adenine (A), thymine (T), cytosine (C) and guanine (G). During transcription, the DNA sequence—stored in Read More…
What is a variant? The human genome contains over 3 billion base pairs– individual “letters” in the DNA code that make the instructions for our cells and bodies to function. A variant or mutation is any change in this code. These changes can be passed down from our biological parents Read More…
