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Ataxia

Snapshot: What is Gene Therapy?

Gene therapy is using nucleic acids to treat a genetic disorder.  These nucleic acids can be designed in a variety of ways to achieve the same therapeutic outcome. Gene therapy tools can be used to correct a mutant gene by one of three ways: Expressing a healthy copy of a Read More…

Snapshot: What is a biomarker?

A biomarker is any biological-based measurement that provides useful information regarding a person’s health. For example, blood test results showing increased glucose levels can be used as a biomarker for diabetes. A blood test showing an increased white blood cell count is a biomarker for infection. There are many sources of Read More…

Mitochondrial impairments identified in SCA7 mouse model and patient cells

Written by Dr. Colleen A. Stoyas Edited by Dr. Monica Banez  Duke University researchers have found that altered cellular metabolism and mitochondrial dysfunction play a central role in spinocerebellar ataxia type 7 (SCA7), a result that has therapeutic implications for this disease. Spinocerebellar ataxia type 7 (SCA7) is a dominantly-inherited ataxia Read More…

Snapshot: How do clinicians measure the severity of ataxia in patients?

Coordination of smooth and effective movements is essential in daily tasks, such as speaking or walking. The ability to successfully orchestrate these movements is commonly referred to as “motor coordination”. While SCA patients can generally initiate movements with their bodies, their ability to execute these in a smooth and precise Read More…

VEGF-mimicking nanoparticles improve SCA1 disease phenotype in mice

Written by Dr. Chandrakanth Edamakanti Edited by Dr. David Bushart VEGF nanoparticles offer a new avenue for developing treatments for SCA1 and other neurodegenerative disorders Spinocerebellar ataxia type 1 (SCA1) is a neurogenerative disorder with symptoms that typically begin in the third or fourth decade of life. The disease is Read More…

Snapshot: What is the Cerebellum?

The cerebellum, often referred to as the “little brain”, is part of the brain that is located behind the cerebrum (forebrain). The cerebellum accounts for about 10% of the brain’s volume. Despite occupying a small volume, the cerebellum contains more than half of the neurons in the brain. Most of Read More…

Snapshot: What are Mouse Models?

If you are thinking of a dressed-up mouse walking on a ramp and posing for pictures, then you are thinking wrong! Mouse models – as the name indicates – serve as a “model” for human diseases. Mice, similar to many mammals, can develop diseases. These include cancers, diabetes, and cardiovascular Read More…

Snapshot: What are Clinical Trials?

How does a medical drug get to patients? Research is being done every day to discover new or better ways to treat diseases and various medical conditions. In order to determine if these treatments will help patients, studies known as “clinical trials” need to be done before these methods of Read More…

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