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    Gene Therapy: Prospective Technology assessment in its societal context
    Gene Therapy: Prospective Technology assessment in its societal context
    Gene Therapy: Prospective Technology assessment in its societal context
    Ebook530 pages6 hours

    Gene Therapy: Prospective Technology assessment in its societal context

    By Jörg Niewöhner

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    About this ebook

    This book presents work that has been conducted as part of the research project "Discourse on ethical questions of biomedicine" of the interdisciplinary Working Group Bioethics and Science Communication at the Max-Delbrueck-Center for Molecular Medicine (MDC)in Berlin-Buch, Germany. This book offers ground-breaking ideas on how the daily interworking of cutting-edge biomedical research assess the broader social context and its communication to stakeholders and the public. Editors cover three aspects: Scientific, Ethical and Legal, and Perception and Communication. This work establishes an international and interdisciplinary network of excellent researchers at the beginning of their careers, who brilliantly integrate their work into the different perspectives on gene therapy from the natural and social sciences, as well as the humanities and law.

    * Discusses biological and cellular barriers limiting the clinical application of nonviral gene deliverysystems* Addresses such questions as: Does patent granting hinder the development of Gene Therapy products?* Offers insight in the future of public perception of gene therapy in Europe* Provides details on how to communicate risks in gene therapy
    LanguageEnglish
    PublisherElsevier Science
    Release dateAug 19, 2011
    ISBN9780080470931
    Gene Therapy: Prospective Technology assessment in its societal context

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      Book preview

      Gene Therapy - Jörg Niewöhner

      Pakistan

      Section I

      Scientific Aspects

      Outline

      Chapter 1: Identification of Genes Causing Autosomal Recessive Retinitis Pigmentosa

      Chapter 2: Recombinant Adeno-Associated Viral Vectors for CNS Gene Therapy

      Chapter 3: Controlling Adenoviral Gene Transfer in Heart by Catheter-Based Coronary Perfusion

      Chapter 4: Biological and Cellular Barriers Limiting the Clinical Application of Nonviral Gene Delivery Systems

      Chapter 5: Designing Polymer-Based DNA Carriers for Non-Viral Gene Delivery: Have We Reached an Upper Performance Limit?

      Chapter 6: Neurogenetic Imaging

      Chapter 7: Implications of Fetal Gene Therapy for the Medical Profession

      Identification of Genes Causing Autosomal Recessive Retinitis Pigmentosa

      Rashid Mehmood, Muhammad Ramzan, Akhtar Ali, Assad Riaz, Fareeha Zulfiqar and Sheikh Riazuddin,     National Centre of Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan

      Publisher Summary

      A study was conducted to identify genes causing autosomal recessive retinitis pigmentosa (arRP). In this study, 50 families showing autosomal recessive mode of inheritance were screened for their linkage to the already reported candidate genes/loci by amplifying the STS markers flanking the genes, followed by their genotyping and haplotype analysis. Two families showed linkage to PDE6A gene, which encodes the subunit of cGMP phosphodiesterase, the effector of the phototransduction cascade. One family was found linked with CNGB1 gene, whose product is a subunit of the cGMP-gated cation channel. Fundus examination and patients’ history revealed typical symptoms of progressive photoreceptor degeneration. The study identified the carrier status of normal individuals of the families, which is of great help in genetic counseling. The study may be useful for presymptomatic and prenatal diagnosis of this genetic disease. To do this, however, enrolment of new families with RP is required thereby allowing for the identification of causative genes of RP so as to offer preventive measures and novel therapies to affected individuals as well as to understand vision process in a better way.

      Abstract

      Retinitis pigmentosa (RP) is a group of inherited disorders in which abnormalities of the photoreceptors or the retinal epithelium (RPE) of the retina lead to progressive visual loss. RP can be inherited in autosomal dominant, autosomal recessive, X-linked, mitochondrial and genetically more complex modes. The purpose of the study was to identify genes causing autosomal recessive retinitis pigmentosa. In this study, 50 families showing autosomal recessive mode of inheritance were screened for their linkage to the already reported candidate genes/loci by amplifying the STS markers flanking the genes, followed by their genotyping and haplotype analysis. Two of the families PKRP021 and PKRP019 showed linkage to PDE6A gene, which encodes the subunit of cGMP phosphodiesterase, the effector of the phototransduction cascade. One family, PKRP 014 was found linked with CNGB1 gene, whose product is a subunit of the cGMP-gated cation channel. Fundus examination and patients’ history revealed typical symptoms of progressive photoreceptor degeneration. The study identified the carrier status of normal individuals of the families, which is of great help in genetic counseling. The study may be useful for presymptomatic and prenatal diagnosis of this genetic disease. To do this, however, enrollment of new families with RP is required thereby allowing for the identification of causative genes of RP so as to offer preventive measures and novel therapies to affected individuals as well as to understand vision process in a better way.

      Keywords

      retinal diseases

      retinitis pigmentosa

      linkage analysis

      genetic diseases

      gene therapy

      Contents

      1. Introduction

      2. Materials and Methods

      2.1. Enrollment of families and clinical evaluation

      2.2. Blood collection and DNA extraction

      2.3. PCR for microsatellites

      2.4. Preparation of samples for ABI 3100 genetic analyzer

      2.5. Haplotype analysis and LOD score calculation

      3. Results

      3.1. PKRP021

      3.2. Clinical evaluation

      3.3. PKRP019

      3.4. PKRP014

      Discussion

      References

      1 INTRODUCTION

      Retinal photoreceptor dystrophies are a clinically and genetically heterogeneous group of retinal degenerations that together form the most frequent cause of inherited visual disorders, with an estimated prevalence of 1 in 4000 [1], and are responsible for the visual handicaps of 1.5 million individuals worldwide [2–5]. In RP, photoreceptor cells (rods and cones in the neurosensory retina) degenerate, leading to the loss of photoreceptor function. The clinical features of RP include night blindness, constriction and gradual loss of peripheral visual field followed by eventual loss of central vision, and the clinically visible abnormal pigmentation that frequently accompanies the death of photoreceptors, creating a bone spicule-like appearance [6]. Other features include narrowed retinal vessels, depigmentation of the retinal pigment epithelium, waxy pallor of the optic discs, vitreous cells, and the loss of photoreceptors or photoreceptors with shortened or absent outer segments on histopathologic study [6]. Patients with advanced forms of disease can be identified by very small or nondetectable electroretinograms (ERGs). Posterior subcapsular cataracts, refractive errors such as astigmatism and myopia, and some cystoid macular edema develop in many cases of RP. The course of RP is intractable, and there is no effective treatment at

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