Molecular Diagnosis and Novel Therapies for Neuromuscular Diseases
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2H7, Canada
The Friends of Garrett Cumming Research & Muscular Dystrophy Canada, HM Toupin Neurological Science Research Chair, Edmonton, AB T6G 2H7, Canada
Author to whom correspondence should be addressed.
J. Pers. Med. 2020, 10(3), 129; https://doi.org/10.3390/jpm10030129
Received: 6 September 2020 / Accepted: 14 September 2020 / Published: 16 September 2020
(This article belongs to the Special Issue Molecular Diagnosis and Novel Therapies for Neuromuscular/Musculoskeletal Diseases)
With the development of novel targeted therapies, including exon skipping/inclusion and gene replacement therapy, the field of neuromuscular diseases has drastically changed in the last several years. Until 2016, there had been no FDA-approved drugs to treat Duchenne muscular dystrophy (DMD), the most common muscular dystrophy. However, several new personalized therapies, including antisense oligonucleotides eteplirsen for DMD exon 51 skipping and golodirsen and viltolarsen for DMD exon 53 skipping, have been approved in the last 4 years. We are witnessing the start of a therapeutic revolution in neuromuscular diseases. However, the studies also made clear that these therapies are still far from a cure. Personalized genetic medicine for neuromuscular diseases faces several key challenges, including the difficulty of obtaining appropriate cell and animal models and limited its applicability. This Special Issue “Molecular Diagnosis and Novel Therapies for Neuromuscular/Musculoskeletal Diseases” highlights key areas of research progress that improve our understanding and the therapeutic outcomes of neuromuscular diseases in the personalized medicine era.
Keywords: Duchenne/Becker muscular dystrophy (DMD/BMD); amyotrophic lateral sclerosis (ALS); viltolarsen; eteplirsen; golodirsen; phosphorodiamidate morpholino oligomers (PMOs); exon skipping; CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9 (CRISPR associated protein 9)-mediated genome editing; multiplex ligation amplification (MLPA); next-generation sequencing (NGS)