Overview

This new resource on genetic links to diseases covers all aspects from molecular biology to clinics and treatment approaches, resulting in a comprehensive overview of inherited diseases as well as genetic counseling and current and future treatments.

Full Product Details

Author:   Anthony Meager
Publisher:   Wiley-VCH Verlag GmbH
Imprint:   Wiley-VCH Verlag GmbH
ISBN:  

9783527321711

ISBN 10:   3527321713
Pages:   350
Publication Date:   23 February 2011
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Hardback
Publisher's Status:   Postponed Indefinitley
Availability:   Not yet available  
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Table of Contents

INHERITED GENETIC DISEASES: Analysis, testing and therapies Preface The human genome -current picture Abnormal structural variation of human genome causing disease Mutations in protein coding sequences that cause disease - Introduction Inherited Blood and Circulation Diseases: Haemophilias Thalassaemias and Sickle cell disease Familial hypercholesterolaemia Blackfan-Diamond anaemia Inherited Immune Dysregulation: Severe combined immunodeficiency diseases, X-SCID, ADA-SCID, Omenn Syndrome Autoimmune polyendocrine disorders, APS-1, IPEX Inherited Heart and Lung Function Disorders: Cystic fibrosis Inherited heart disorders Inherited Muscle and Mobility Diseases: Duchenne muscular dystrophy Friedrichs ataxia Inherited Premature Aging, Dementia and Mental Retardation: Progeria, Werner's syndrome, Huntingdons disease Fragile X syndrome Gerstmann-Straussler-Sheinker disease DNA repair and hereditary cancer susceptibility: Xeroderma pigmentosum, Fanconi's anaemia BRAC-1 and -2 genes Retinoblastoma, Cowden disease (mutations in tumour suppresor genes) Inherited Lysosomal storage Diseases - Mucopolysaccharidosis Mucopolysaccharidosis, e.g., Hurler's syndrome, Tay Sachs disease Genetic testing for inherited disorders - Introduction Genetic Risk Assessment Molecular genetic tests/ quality assurance/ in clinical practice Genetic testing for cancer predisposition Genetic Counseling Advice to patients/ parents: psychological impact Expanded newborn screening: ethical, legal and social concerns Clinical Treatments Transfusion therapy of beta-thalassaemia Therapeutic strategies for cystic fibrosis Clotting factors for haemophilias Polycystic kidney disease: new targets for treatment Prospects for gene and cell therapies Gene therapy: history, problems and applications Gene therapy of X-SCID Strategies for stem cell therapies

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Author Information

Anthony Meager is a Principal Scientist in the Biotherapeutics Group, The National Institute for Biological Standards and Control (NIBSC), South Mimms, Herts., UK. Following his PhD, he has performed research in the biomedicinal field for 35 years. He joined the NIBSC in 1980 and currently heads laboratories testing and researching bioactivities of interferons, tumour necrosis factor and novel cytokines. From 1990, he contributed to regulatory guidance on gene therapy for the European Medicines Agency and the World Health Organization. He is an author on 170 scientific papers and reviews and has authored/edited books on both cytokines and gene therapy, f.e. Interferons , a Wiley-VCH title published in 2006.

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