From Genetic Discovery to Clinical Practice: Bridging the Gap in Huntington's Disease

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About this Research Topic

Submission deadlines

  1. Manuscript Submission Deadline 19 February 2025

  2. This Research Topic is still accepting articles.

Background

Huntington's Disease (HD) is a progressive neurodegenerative disorder that profoundly affects the brain, leading to motor, cognitive, and psychiatric symptoms. It is caused by a genetic mutation in the HTT gene, which leads to the production of an abnormal version of the huntingtin protein. This protein gradually damages specific areas of the brain, resulting in the symptoms associated with the disease. HD is typically inherited in an autosomal dominant pattern, meaning that having just one copy of the mutated gene can cause the disorder. As the disease progresses, cognitive abilities generally decline, leading to difficulties in planning, organizing, and coping with new situations.

One of the most promising areas of research in Huntington's disease involves gene therapy, like exploring ways to silence or decrease the expression of the mutant huntingtin gene and finding the underlying cause of HD. Techniques like antisense oligonucleotides (ASOs), which can selectively target and reduce the levels of mutant huntingtin protein, have shown potential in clinical trials. These therapies aim to slow the progression of the disease by directly addressing its genetic root. Another exciting development is the use of CRISPR-Cas9 gene-editing technology. To remove or fix the mutation in the huntingtin gene directly within the DNA. Although still in early stages, these studies could lead to a advanced treatment for Huntington's disease.

Recent research has made significant strides in uncovering biomarkers that can offer insights into the pathophysiology of HD and guide treatment decisions. The levels of mutant huntingtin protein (mHTT) in cerebrospinal fluid (CSF) and peripheral tissues are being explored as direct indicators of disease presence and progression. Additionally, researchers are exploring neurofilament light chain (NfL) levels in blood and CSF as a biomarker for neural damage. Elevated NfL levels have been associated with neurodegeneration, making it a potential marker for tracking HD progression and response to therapies.

This Research Topic aims to provide a comprehensive, contemporary collection of research focusing on Huntington's disease. We welcome Original Research Articles, Reviews, Mini Reviews, Systematic Reviews, Perspectives, Commentaries, Data notes, and technical notes, but are not limited to the following:

1. Research that focuses on gene therapy approaches
2. Research that identify and validate new biomarkers that can be used for early diagnosis, monitoring disease progression, and assessing response to therapies
3. Recent advances in therapeutic targets
4. Investigate treatments that could protect or restore the function of neurons affected by the disease.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

  • Brief Research Report
  • Clinical Trial
  • Data Report
  • Editorial
  • General Commentary
  • Hypothesis and Theory
  • Methods
  • Mini Review
  • Opinion

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Keywords: Huntington's Disease, HTT gene, Huntingtin Protein, Neurodegenerative Disorder

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