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Snapshot: What Are Silent Mutations?

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…

Snapshot: What is a Variant of Uncertain Significance (VUS)?

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…

Snapshot: What Are Nonsense Mutations?

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…

Moving forward with movement sensors for ataxia

Written by Carrie Sheeler, PhD    Edited by Celeste Suart, PhD Advances in wearable technology for tracking ataxia severity combine coordination changes across different types of movement.  How do you know a new treatment is working? This is the key question that clinicians have to answer when developing and testing new therapies. One on one, a patient Read More…

Snapshot: What Are Missense Mutations?

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…

24/7 Wearable Sensors: A New Way to Track Ataxia

Written by Poojashree Chettiar Edited by Pragya Goel, PhD AI and wearable tech may transform how ataxia is monitored Could everyday devices help track ataxia? Finding treatments for neurological disorders like spinocerebellar ataxias (SCAs) and multiple system atrophy (MSA-C) has been challenging. A major reason is the lack of good Read More…

Spinal Cord Damage Detected Prior to Disease Onset in Several SCAs

Written by Jacen Emerson Edited by Hannah Shorrock, PhD Human Imaging data reveals worsening spinal cord damage in several Ataxias that can begin before symptoms start. Why does the spinal cord matter in SCA? Rezende and colleagues recently published the most thorough study of spinal cord damage in Spinocerebellar Ataxias Read More…

Snapshot: What is FGF14?

FGF14 or fibroblast growth factor 14 is an essential protein found predominantly in the brain, specifically in Purkinje cells. These brain cells are responsible for maintaining everyday functions such as learning and coordinating movement. FGF14 is critical for both allowing the brain to undergo healthy development and maintaining its function Read More…

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