Mitochondrial Disease Genes Compendium: From Genes to Clinical Manifestations provides an all-in-one reference on mitochondrial disease from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Each "gene page offers an in-depth view of clinical disease spectrums, including inheritance pattern, age ranges affected, major clinical features, known therapies, available support groups, and gene-specific basic or translational research activities now underway.
Links provided on each gene page direct readers to MSeqDR for new findings, fresh genomic variant data, and bioinformatics tools, ensuring access to updated information on each condition. Covering over 300 mitochondrial disease genes, this book is ideal for clinicians and researchers.
- Provides a readily intelligible, all-in-one reference of known mitochondrial disease genes and their associated conditions
- Features live links to Mitochondrial Disease Sequence Data Resource (MSeqDR) pages with regularly updated genetic variant data and bioinformatics tools
- Covers the inheritance pattern, age spectrum affected, major clinical features, therapeutics, support groups, and research currently under way for over 300 mitochondrial diseases
Marni J. Falk, M.D., is Executive Director of the Mitochondrial Medicine Frontier Program at The Children's Hospital of Philadelphia (CHOP) and Associate Professor in the Division of Human Genetics, Department of Pediatrics at University of Pennsylvania Perelman School of Medicine. Dr. Falk completed dual specialty training in a 5-year Pediatrics and Clinical Genetics residency program at Case Western Reserve University. The focus of her work is to improve clinical care, diagnostic approaches, therapies, and genomic resources for mitochondrial disease, including organization of a global Mitochondrial Disease Sequence Data Resource (MSeqDR) consortium. Dr. Falk is also PI of an NIH, pharma, and philanthropic funded translational research laboratory group at CHOP that investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction, and directs multiple clinical treatment trials in mitochondrial disease patients.