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This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact

Medicine --- Immunology --- autoinflammatory diseases --- genotype/phenotype correlations --- inflammasome --- ubiquitinopathies --- hyperinflammatory state --- epigenetics --- dermatopathology --- treatment

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Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.

Technology: general issues --- Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- California --- follow-up --- pseudodeficiency --- late-onset --- infantile-onset --- presymptomatic --- c.-32-13T&amp --- gt --- G --- infantile-onset Pompe disease --- GAA sequencing --- immune modulation therapy --- enzyme replacement therapy --- cross-reactive immunologic material --- genotype-phenotype correlation --- treatment and follow-up --- lysosomal storage diseases --- variant cut-off --- next generation sequencing --- dried blood spots --- new disorders implementation --- acid α-glucosidase --- alpha glucosidase --- Pompe disease diagnostics testing --- Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- California --- follow-up --- pseudodeficiency --- late-onset --- infantile-onset --- presymptomatic --- c.-32-13T&amp --- gt --- G --- infantile-onset Pompe disease --- GAA sequencing --- immune modulation therapy --- enzyme replacement therapy --- cross-reactive immunologic material --- genotype-phenotype correlation --- treatment and follow-up --- lysosomal storage diseases --- variant cut-off --- next generation sequencing --- dried blood spots --- new disorders implementation --- acid α-glucosidase --- alpha glucosidase --- Pompe disease diagnostics testing

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Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.

Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- n/a --- California --- follow-up --- pseudodeficiency --- late-onset --- infantile-onset --- presymptomatic --- c.-32-13T&amp --- gt --- G --- infantile-onset Pompe disease --- GAA sequencing --- immune modulation therapy --- enzyme replacement therapy --- cross-reactive immunologic material --- genotype-phenotype correlation --- treatment and follow-up --- lysosomal storage diseases --- variant cut-off --- next generation sequencing --- dried blood spots --- new disorders implementation --- acid α-glucosidase --- alpha glucosidase --- Pompe disease diagnostics testing

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This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine.

LMNA --- Emery–Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype–phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions --- n/a --- Emery-Dreifuss muscular dystrophy --- genotype-phenotype

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This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine.

Research & information: general --- LMNA --- Emery-Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype-phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions --- LMNA --- Emery-Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype-phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions