Genetic Modifiers and Non-Mendelian Aspects of CMT.

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ID: 45807
2019
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Abstract
Charcot-Marie-Tooth (CMT) neuropathies are amongst the most common inherited diseases in neurology. While great strides have been made to identify the genesis of these diseases, a diagnostic gap of 30-60% remains. Classic models of genetic causation may be limited to fully close this gap and, thus, we review the current state and future role of alternative, non-Mendelian forms of genetics in CMT. Promising synergies exist to further define the full genetic architecture of inherited neuropathies, including affordable whole-genome sequencing, increased data aggregation and clinical collaboration, improved bioinformatics and statistical methodology, and vastly improved computational resources. Given the recent advances in genetic therapies for rare diseases, it becomes a matter of urgency to diagnose CMT patients with great fidelity. Otherwise, they will not be able to benefit from such therapeutic options, or worse, suffer harm when pathogenicity of genetic variation is falsely evaluated. In addition, the newly identified modifier and risk genes may offer alternative targets for pharmacotherapy of inherited and, potentially, even acquired forms of neuropathies.
Reference Key
bisbrewer2019geneticbrain Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Bis-Brewer, Dana M;Fazal, Sarah;Züchner, Stephan;
Journal Brain research
Year 2019
DOI
S0006-8993(19)30513-X
URL
Keywords
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