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Mitochondrial Disease Genes Compendium - 1st Edition - ISBN: 9780128200292, 9780128200308

Mitochondrial Disease Genes Compendium

1st Edition

From Genes to Clinical Manifestations

Editor: Marni Falk
eBook ISBN: 9780128200308
Paperback ISBN: 9780128200292
Imprint: Academic Press
Published Date: 28th April 2020
Page Count: 548
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The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual’s disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. MSeqDR provides tens of thousands of users with interactive access to mitochondrial disease feature descriptions in a defined human phenotype ontology, mitochondrial proteome-based gene and variant curation, and a suite of easily accessible tools to facilitate analysis of complex genomic datasets in nuclear and mitochondrial genomes as well as accurate interpretation of mitochondrial disease genes, variants, and diseases.

Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care 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. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition. Covering 256 mitochondrial disease genes that have been expert-curated to assure they cause human diseases and have known mitochondrial localization or impact mitochondrial function, the Mitochondrial Disease Genes Compendium is directed at clinicians and researchers, facilitating bedside access to high-level, curated knowledge on mitochondrial disease genetics that rapidly enables patient diagnosis, counseling, management, treatment, and research.

Key Features

  • 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 patterns, age spectrum affected, major clinical features, therapeutics, support groups, and research currently under way for over 250 mitochondrial diseases


Active clinicians, researchers, and trainees in biochemistry, molecular biology, medical genetics, mitochondrial medicine, cell biology, oncology, neurology, neuroscience, and pharmacology, clinician scientists.

Table of Contents

1. Foreword
Marni J. Falk, MD
2. State-of-the Field Introduction: The history and evolving paradigm for genomic diagnosis of mitochondrial diseases
David R. Thorburn, PhD
3. Mitochondrial Disease Genes Compendium: Connecting with Knowledge in the Mitochondrial Disease Sequence Data Resource (MSeqDR)
Marni J. Falk, MD, Lishuang Shen, PhD, and Xiaowu Gai, PhD
4. 256 Mitochondrial Disease Genes

1: Mitochondrial Disease Gene Index and Author Acknowledgements
2: Mitochondrial Disease Patient Advocacy Groups List


No. of pages:
© Academic Press 2020
28th April 2020
Academic Press
eBook ISBN:
Paperback ISBN:

About the Editor

Marni Falk

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.

Affiliations and Expertise

Associate Professor and Executive Director, Mitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA

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