Tuberous Sclerosis Complex Genes, Clinical Features and Therapeutics

by Kwiatkowski, David J.; Holets Whittemore, Vicky; Thiele, Elizabeth A.

• ISBN13: 9783527322015
• ISBN10: 3527322019
• Edition: 1st
• Format: Hardcover
• Copyright: 2010-06-08
• Publisher: Wiley-Blackwell

Summary

This book provides a comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis.Special focus is placed on novel insights into the signal transduction pathways affected by the disease and genotype phenotype correlations. Existing and potential therapies are also discussed in depth.The editors are leading experts in research and treatment of the disease. Dr. Vicky Holets Whittemore is, for example, the Vice President of the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the USA. The only comprehensive title on the genetic disorder Tuberous Sclerosis on the market. Gives up to date information about the molecular basis, diagnosis and therapies. Edited and authored by researchers and clinicians with outstanding international reputation as well as prominent figures in the largest patient advocacy group. Indispensable for doctors, researchers and patients.

Author Biography

David J. Kwiatkowski is Professor of Medicine at Harvard Medical school, and Senior Physician at the Brigham and Women's Hospital and Dana Farber Cancer Institute. He was the recipient of the Manuel R. Gomez Award for contributions in Tuberous Sclerosis Complex in 2002, and has authored over 200 original publications, of which over half are on various aspects of TSC. The TSC1 gene was identified in his laboratory in 1997. His research interests include understanding the pathogenesis and genetics of TSC with a particular focus on the tumors that occur in TSC individuals, development of mouse models of the disease, and exploration of potential therapies in preclinical models.
Vicky Holets Whittemore is the Vice President & Chief Scientific Officer for the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the USA. She received her PhD from the University of Minnesota. She undertook post-doctoral training at the University of California, Irvine and the Karolinska Institute, and left academics when she was Associate Professor of Neurological Surgery in The Miami Project to Cure Paralysis at the University of Miami, to join the staff of the National Tuberous Sclerosis Association in 1994. Her family is affected by TSC, and she is highly knowledgeable about the disease, and a tireless advocate for individuals with TSC and their families. She was awarded the first Manuel R. Gomez Award in 2001.
Elizabeth A. Thiele is a neurologist and epileptologist at Massachusetts General Hospital. She received her MD and PhD at Johns Hopkins University School of Medicine, and did her post-graduate training at the Johns Hopkins Hospital and Children's Hospital in Boston. She established and directs the Carol and James Herscot Center for Tuberous Sclerosis Complex, and is Director of the Pediatric Epilepsy Service at Massachusetts General Hospital. She is an Associate Professor in Neurology at Harvard Medical School. Dr. Thiele's research and clinical interests focus on multiple aspects of the clinical management of TSC, including epilepsy management, genotype-phenotype correlation in TSC, and neuropsychological aspects of TSC. She was awarded the Manuel R. Gomez Award in 2009.

Table of Contents

Basics

The History of Tuberous Sclerosis Complex (Whittemore)

Natural History of Tuberous Sclerosis Complex and Overview of Manifestations (Thiele and Jozwiak)

Diagnostic Criteria for Tuberous Sclerosis Complex (Roach and Sparagana)

Genetics

Genetics of Tuberous Sclerosis Complex (Kwiatkowski)

Genotype-Phenotype Studies in TSC and Molecular Diagnostics (Au and Northrup)

Basic Science

The Role of Target of Rapamycin Signaling in Tuberous Sclerosis Complex (Manning)

Rat and Mouse Models of tuberous Sclerosis (Kwiatkowski)

Animal Models of TSC: Insights from Drosophila (Pan)

Brain Involvement

Pathogenesis of TSC in the Brain (Crino and Vinters)

Epilepsy in TSC (Thiele and Weiner)

Subependymal Giant Cell Astrocytomas (Franz, Krueger, Balko)

Neurodevelopmental, psychiatric and cognitive aspects of Tuberous Sclerosis Complex (de Vries)

Other Organ Systems

Ophthalmic Manifestations (Agrawal and Fulton)

Dermatologic Manifestations of TSC (Darling, Moss and Mausner)

Renal Manifestations of Tuberous Sclerosis Complex (Bissler and Henske)

Cardiac and Vascular Manifestations (Jozwiak and Respondek-Liberska)

Lymphangioleiomyomatosis and pulmonary disease in TSC (McCormack and Henske)

Endocrine, Gastrointestinal, Hepatic and Lymphatic Manifestations of Tuberous Sclerosis Complex (O'Callaghan and Osborne)

Family Impact

Impact on the Family and Genetic Counseling Issues (Whittemore and Lewis)

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