Methods in Neuromuscular Diseases: Investigating Mechanisms and Potential Therapies

TOPICAL COLLECTIONS

Guest Editors

Lisa Maves

Seattle Children's Research Institute, Center for Developmental Biology and Regenerative Medicine, and University of Washington, Department of Pediatrics

Dr. Lisa Maves, PhD, is a principal investigator in the Center for Developmental Biology and Regenerative Medicine at Seattle Children’s Research Institute and an Assistant Professor of Pediatrics in the Division of Cardiology at the University of Washington School of Medicine. She received her PhD in Zoology from the University of Washington and completed postdoctoral research at the University of Oregon and at Fred Hutchinson Cancer Research Center. Dr. Maves has had long-standing interests and expertise in the fields of developmental biology and genetics. Her lab at Seattle Children’s seeks to understand the control of cellular differentiation during skeletal muscle and cardiac development, with the goal of identifying the mechanisms behind muscular dystrophy and congenital heart disorders. The Maves Lab has a deep appreciation for the beauty of embryogenesis and for the insights that developmental biology can provide toward understanding human disease. Her lab primarily uses the zebrafish animal model, taking advantage of an array of tools such as CRISPR genome engineering, sophisticated genetics and in vivo imaging, pharmacological manipulations, and chemical screening.

David L Mack

University of Washington, Seattle, WA, Department of Rehabilitation Medicine, Department of Bioengineering, Institute for Stem Cell and Regenerative Medicine

Dr. David Mack is an Associate Professor in the Departments of Rehabilitation Medicine and Bioengineering, as well as an Investigator in the Institute for Stem Cell and Regenerative Medicine at the University of Washington. He has a longstanding interest in how stem cells make cell fate decisions during embryonic development by coordinating their intrinsic genetic program with cues from their surrounding microenvironment. The goal of the Mack laboratory is to apply their understanding of this basic question to the development of stem cell and gene therapy treatments for neuromuscular diseases. David’s expertise is rooted at the intersection of genetics, developmental biology, cancer biology and biomaterials, which resulted directly from different phases of his professional training. The foundation is a PhD in molecular genetics from the Indiana University School of Medicine, where he studied transcriptional regulation of T-cell development and how this process goes awry to cause leukemia. As a postdoctoral fellow at the National Cancer Institute in Bethesda, he studied how tissue-specific stem cells interact with their microenvironment and how this impacts cell fate choices during mammary gland development, and the molecular defects that cause breast cancer. David then switched from cancer research to the relatively new field of regenerative medicine by accepting a senior postdoc position at the Wake Forest Institute for Regenerative Medicine. Under the leadership of Dr. Anthony Atala, David’s work focused on how to control embryonic and fetal stem cell differentiation by using natural and artificial scaffolds in concert with direct manipulation of the cells’ genetic program. All of these efforts have the overriding purpose of developing therapies to enhance tissue repair and regeneration following injury or disease.

Collection Overview

Neuromuscular diseases (NMDs) are a diverse set of genetic disorders characterized by progressive skeletal muscle weakness and dysfunction. The diversity of NMDs arises from the variability in the genetic causes, the biochemical mechanisms, the muscle groups affected, and the age of onset and severity of disease. Advances in our understanding of the genetic and molecular mechanisms behind NMDs are currently being applied to the development of novel therapies. These therapies include gene- and mutation-specific targeting, in addition to approaches that might be beneficial across different NMDs. There are several areas of methods and approaches that are rapidly advancing and, thus, contributing to important recent progress in the NMD field. These areas include the generation and use of a variety of animal models, the use of human induced pluripotent stem cell models, disease imaging techniques, metabolomics and genomics approaches like single-cell sequencing, and advances in functional and physiological approaches toward measuring disease progression and treatment outcomes. This methods collection aims to highlight the spectrum of approaches being employed to investigate disease mechanisms and potential therapies for NMDs. By bringing together these diverse methods in one collection, we hope to encourage researchers in the NMD field to apply new methods to advance their work.