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Genetic Therapy

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Cystic fibrosis (CF) is the most common severe hereditary disease in the white population. In Belgium, the disease affects approximately 1 in 2500 newborns and there are about 1,100 known cases of CF (Lebecque & Baran 2002). It is estimated that more than 70,000 people worldwide suffer from this disease (Cystic Fibrosis Foundation Patient Registry 2009). It is a severe disease because it reduces the life expectancy otthe patient by causing severe complications in the digestive (pancreatitis, diabetes, bowel obstruction) and respiratory systems (respiratory infections and progressive deterioration of the lungs) leading to respiratory failure and ultimately, death, CF is the consequence of mutations of a gene causing impaired function of a protein named CFTR; the protein is found in a variety of epithelial cells where it actually functions as an ion channel permeable to chloride, whose function is to regulate the transport of salt across cell membranes. Mutations in the CFTR gene result in formation of a viscous mucus and of dehydrated secretions leading to obstructions and infections. As a genetic disease, treatments currently available only target the symptoms to help preventing the onset of complications and thus slowing progression of the disease. The developments of guidelines for patient care and optimization of treatments available have over time improved the prognosis of the disease. Indeed, median survival, which was around 5 years old in 1963, reached in 2004, about 40 years for patients diagnosed and caught early by a specialized center (Aubier et al. 2009). The oldest Belgian F patient was 62 years old in 2007 (RBM 2007). Fight against this disease is a daily struggle for the patient since there is currently no cure for a genetic disease. The patient must spend each day, one to several hours at his treatment and his physical therapy, his disease is part of his everyday life. However, hope is there thanks to new technologies and innovative treatments such as gene therapy. This treatment may be one of the first treatments to truly heal patients with a genetic disease and could eventually become a treatment that can supplant current symptomatic treatments in the future, hopefully, the nearest possible... This thesis consists of two parts, the first, detailing the generalities of CF (pathophysiology, diagnosis, treatments, etc...). And the second part will explain the interest of research on this promising treatment which is gene therao and a review of its progress and results achieved so far. La mucoviscidose est la plus fréquente des maladies héréditaires graves dans la population caucasienne. En Belgique, elle touche approximativement 1 nouveau-né sur 2500 et ii y a environ 1100 cas connus de mucoviscidose (Lebecque & Baran 2002). On estime que dans le monde plus de 70.000 personnes sont atteintes de cette maladie (Cystic Fibrosis Foundation Patient Registry 2009). Elle fait partie des maladies héréditaires graves car elle diminue fortement l’espérance de vie du malade en induisant de sérieuses complications au niveau des systèmes digestif (pancréatite, diabète, occlusion intestinale) et respiratoire (infections respiratoires et degradation progressive des poumons) menant a une insuffisance respiratoire, in fine, fatale. La mucoviscidose est Ia consdquence de la mutation d’un gène entrainant l’altération de la fonction d’une protéine présente sur de nombreuses cellules déithéliales. Cette protéine est en réalité un canal ionique perméable aux ions chlorure, dont la fonction est de réguler le transport du sel a travers les membranes cellulaires. Cette mutation provoque la formation de sécrétions muqueuses visqueuses et déshydratées qui mènent a l’obstruction des lumières et conduits d’excrétions. Ces sécrétions épaisses, difficiles a être éliminées, sont sujettes aux infections par des germes pathogènes parfois difficiles a éradiquer. Etant une maladie génétique, les traitements actuellement disponibles ne peuvent que soulager les symptômes pour prévenir l’apparition des complications et donc ralentir l’évolution de la maladie. Le développement de recommandations d’une prise en charge multidisciplinaire et l’optimisation des traitements disponibles au flu du temps ont permis d’ameliorer le pronostic de la maladie. En effet la médiane de survie, qui était de 5 ans en 1963, atteignait en 2004 environ 40 ans pour les patients dépistés et pris en charge précocement par un centre spécialisé (Aubier et coll. 2009). La plus âgde des patientes belges atteinte de la maladie avaient 62 ans en 2007 (Registre Belge de Ia Mucoviscidose 2007). Lutter contre cette maladie est un combat quotidien pour le patient étant donné qu’on ne guérit pas actuellement d’une maladie génetique. Le malade doit consacrer chaque jour une a plusieurs heures a son traitement et a sa kinésithérapie, sa maladie fait partie de sa vie de tous les jours. Cependant, un espoir se profile a l’horizon grace aux nouvelles technologies et traitements novateurs tel que la thérapie génique. Car ce traitement, a terme, pourrait être l’un des premiers traitements capables de véritablement soigner des patients souffrant d’une maladie génétique et pourrait éventuellement devenir un traitement pouvant supplanter les traitements symptomatiques actuels dans un avenir, espérons-le, le plus proche possible... Ce mémoire se compose de deux parties, la premiere, reprenant les généralités concernant la maladie (physiopathologie, diagnostic, traitements, etc.). La deuxième partie développe l’intérêt des recherches menées sur la thérapie génique ainsi qu’un bilan de son avancement et des résultats obtenus jusqu’ici

Cystic Fibrosis --- Genetic Therapy

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Outside back cover : "Gene therapy has emerged as a discipline in medicine that can provide treatments for diseases that have no other therapies available, save lives of patients for whom there is no other hope and replace suboptimal treatments with lasting cures. 'Fast Facts: Gene Therapy' provides an overview of the field, looking at the main vector systems used to transfer the therapeutic gene constructs, the molecular mechanisms and the history of gene therapy, as well as the safety and ethical considerations of this important advance. Multiple examples of diseases that are already successfully treated with gene therapy are given, with discussion of treatments that hold promise for the future. This book will be informative and of value to health professionals, researchers, students and anyone with an interest in this exciting and fast-moving area."

Human medicine --- Genes --- Genetic Therapy

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Molecular biology --- Genetic Therapy. --- Molecular Biology. --- Biophysics

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Gene therapy. --- Genetic Therapy --- methods --- Therapy, Gene --- Genetic engineering --- Therapeutics