About this Research Topic

Background

Rare neurological diseases are an extremely heterogeneous group of disorders affecting the brain, spinal cord, peripheral nerves, or muscle. They represent almost half of all rare diseases and about 80% have a genetic basis. Due to their low prevalence, rare neurological disorders have long not been considered a hot topic for investing in research, although, taken altogether, their impact on health systems is immense. However, in the last two decades, rare diseases could celebrate an increasing interest due to advances made in genomic sequencing, multi-stakeholder collaborations, and promising therapeutic approaches.

Nevertheless, most patients with a rare disease do not receive a targeted treatment and up to 50% of cases remain undiagnosed, even in specialized centers where broad genetic testing is routinely performed. Furthermore, recent advances raise new questions and challenges: from technical difficulties in profiling large repeat expansions, to understanding the role of genetic modifiers and discovering genotype-phenotype correlations, to economic evaluations and carrier screenings.

In this Research Topic, we will assess the underlying genetic architecture of rare neurological disorders, including neuromuscular, neurometabolic, neurodegenerative, and movement disorders. We invite you to submit any original articles, reviews, or case reports focused on but not limited to:

• Pathogenic mechanisms of rare neurological diseases
• New genetic defects or (genetic) modifiers of the diseases
• New phenotypes and phenotypic variation
• The relationship between genetics, gene expressions, and phenotypes
• Development of therapeutic approaches and treatment implications
• Biomarkers to monitor disease activity, conversion, and progression as well as response to therapy in rare genetic neurological disorders


We look forward to reading your contributions.

Keywords: neurogenetics, rare diseases, monogenic neurological diseases, genetic therapies, new phenotypes, genotype-phenotype correlation

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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