Mitochondrial Disease Genes Compendium

From Genes to Clinical Manifestations
Erscheinungsjahr 2020
ISBN: 978-0-12-820029-2
Verlag: Elsevier Health Sciences

Buch, Englisch, 548 Seiten, Format (B × H): 191 mm x 235 mm, Gewicht: 1070 g

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.

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 256 mitochondrial disease genes 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.

Zielgruppe

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

Autoren/Hrsg.

Falk, Marni J

Fachgebiete

• Naturwissenschaften Biowissenschaften Enzymologie
• Naturwissenschaften Biowissenschaften Biowissenschaften Genetik und Genomik (nichtmedizinisch)
• Naturwissenschaften Biowissenschaften Molekularbiologie

Inhaltsverzeichnis

1. Foreword 2. State-of-the Field Introduction: The history and evolving paradigm for genomic diagnosis of mitochondrial diseases 3. Mitochondrial Disease Genes Compendium: Connecting with Knowledge in the Mitochondrial Disease Sequence Data Resource (MSeqDR) 4. 256 Mitochondrial Disease Genes 

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

Über Autor(innen)

Falk, Marni J
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.