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The functional Scale for the Assessment and Rating of Ataxia (f-SARA) is a scoring system to track how much a person’s balance and movement are affected. The f-SARA is an updated version of the original scale for ataxia, also known as SARA, especially designed for Spinocerebellar Ataxia. Traditionally, doctors measure Read More…
When scientists test a new treatment in a clinical trial, they need a reliable way to determine whether it is safe and effective. To do this, they rely on endpoints. Endpoints are clearly defined outcomes that are measured during a trial to help determine the effects of an intervention. Clinical trials usually include several types of Read More…
Levacetylleucine, sold under the brand name Aqneursa, is an FDA-approved treatment for Niemann-Pick disease type C (NPC). It is an oral medicine, approved by the FDA in September 2024, later approved in the European Union in January 2026. Its exact mechanism of action remains unclear, but it is believed to 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…
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…
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…
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…
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…
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…
