Introducing Gene Therapy Session 1.14 Unit 1: Lifestyle, Transport, Genes and Health Topic 2: Genes and Health Introducing Gene Therapy Introduction Germ-line gene therapy Somatic gene therapy Techniques used in Gene therapy Genetic screening Social and Ethical Issues of Genetic Screening AS Edexcel Biology Xavier DANIEL, Ph.D.

Introducing Gene Therapy Session 1.14 Unit 1: Lifestyle, Transport, Genes and Health Topic 2: Genes and Health Introducing Gene Therapy Introduction Germ-line gene therapy Somatic gene therapy Techniques used in Gene therapy Genetic screening Social and Ethical Issues of Genetic Screening AS Edexcel Biology Xavier DANIEL, Ph.D.

Genetic modification = Transformation = Genetic engineering Introduction Genetic modification = Transformation = Genetic engineering Introducing extra genes into organisms Creation of new combinations of DNA: Recombinant DNA technology Bacteria and yeast: in plasmids or chromosome Plant and animals: in chromosomes, mitochondria or chloroplasts AS Edexcel Biology Xavier DANIEL, Ph.D.

Introduction AS Edexcel Biology Xavier DANIEL, Ph.D.

Efficiency may be Introduction Genetic disease: a gene is malfunctioning Solution = replace the abnormal gene by the normal gene Providing the correct gene to overcome genetic disease = Gene therapy Efficiency may be Transient Supply affected person with normal gene periodically Or with the proteic product of the gene Permanent Supply affected person with normal gene once Gene was not inserted into patient’s genome Gene was inserted into patient’s genome AS Edexcel Biology Xavier DANIEL, Ph.D.

Several approaches to gene therapy: Introduction Several approaches to gene therapy: Inserting a normal gene to replace an abnormal gene. Inactivating, or “knocking out,” a mutated gene that is functioning improperly. Introducing a new gene into the body to help fight a disease. AS Edexcel Biology Xavier DANIEL, Ph.D.

STEPS IN GENE THERAPY: 1. Identification of the defective gene. Introduction STEPS IN GENE THERAPY: 1. Identification of the defective gene. 2. Cloning of normal healthy gene. 3. Identification of target cell / tissue / organ. 4. Insertion of the normal functional gene into the host DNA. AS Edexcel Biology Xavier DANIEL, Ph.D.

Introduction of FUNCTIONAL GENES into appropriate cells Transferred gene (TRANSGENE) encodes & produces proteins The Proteins encoded by Transgene corrects the disorder AS Edexcel Biology Xavier DANIEL, Ph.D.

TYPES OF GENE THERAPY: 1. SOMATIC CELL THERAPY 2. GERM LINE THERAPY Introduction TYPES OF GENE THERAPY: 1. SOMATIC CELL THERAPY 2. GERM LINE THERAPY Target cells = somatic cells Target cells = sex cells (gametes) AS Edexcel Biology Xavier DANIEL, Ph.D.

Introducing Gene Therapy Session 1.14 Unit 1: Lifestyle, Transport, Genes and Health Topic 2: Genes and Health Introducing Gene Therapy Introduction Germ-line gene therapy Somatic gene therapy Techniques used in Gene therapy Genetic screening Social and Ethical Issues of Genetic Screening AS Edexcel Biology Xavier DANIEL, Ph.D.

Germ-line therapy AS Edexcel Biology Xavier DANIEL, Ph.D.

Somatic Cell Nuclear Transfer Germ-line therapy SCNT Somatic Cell Nuclear Transfer AS Edexcel Biology Xavier DANIEL, Ph.D.

Introducing Gene Therapy Session 1.14 Unit 1: Lifestyle, Transport, Genes and Health Topic 2: Genes and Health Introducing Gene Therapy Introduction Germ-line gene therapy Somatic gene therapy Techniques used in Gene therapy Genetic screening Social and Ethical Issues of Genetic Screening AS Edexcel Biology Xavier DANIEL, Ph.D.

Somatic therapy In vivo gene therapy Ex vivo gene therapy AS Edexcel Biology Xavier DANIEL, Ph.D.

Somatic therapy In vivo gene therapy AS Edexcel Biology Xavier DANIEL, Ph.D.

Somatic therapy Ex vivo gene therapy AS Edexcel Biology Xavier DANIEL, Ph.D.

epithelial cells in lungs Somatic therapy Cystic fibrosis In vivo gene therapy Use of Liposomes Target = epithelial cells in lungs Transient effect (Epithelial cells are renewed all the time) Treatment must be repeated regularly AS Edexcel Biology Xavier DANIEL, Ph.D.

Introducing Gene Therapy Session 1.14 Unit 1: Lifestyle, Transport, Genes and Health Topic 2: Genes and Health Introducing Gene Therapy Introduction Germ-line therapy Somatic therapy Techniques used in Gene therapy Genetic screening Social and Ethical Issues of Genetic Screening AS Edexcel Biology Xavier DANIEL, Ph.D.

Techniques used in Gene therapy In molecular biology in general AS Edexcel Biology Xavier DANIEL, Ph.D.

Techniques used in Gene therapy Separating DNA fragments according to their sizes with Gel electrophoresis Gel made of Agarose / Polyacrylamide Gel Making the gel Gel in tank Loading sample in well AS Edexcel Biology Xavier DANIEL, Ph.D.

Techniques used in Gene therapy Separating DNA fragments according to their sizes with Gel electrophoresis Running the electrophoresis DNA negatively charged Attracted by positive electrode Gel = sieve Smaller faster Bigger slower AS Edexcel Biology Xavier DANIEL, Ph.D.

Techniques used in Gene therapy Separating DNA fragments according to their sizes with Gel electrophoresis AS Edexcel Biology Xavier DANIEL, Ph.D.

Techniques used in Gene therapy Separating DNA fragments according to their sizes with Gel electrophoresis Visualizing the results AS Edexcel Biology Xavier DANIEL, Ph.D.

Techniques used in Gene therapy Separating DNA fragments according to their sizes with Gel electrophoresis Visualizing the results Molecular weight markers Ladder Estimation size DNA bands AS Edexcel Biology Xavier DANIEL, Ph.D.

Techniques used in Gene therapy Detecting specific DNA fragments with Southern Blotting transfers AS Edexcel Biology Xavier DANIEL, Ph.D.

Techniques used in Gene therapy Detecting specific DNA fragments with Southern Blotting AS Edexcel Biology Xavier DANIEL, Ph.D.

Techniques used in Gene therapy Comparing two organisms with Southern Blotting AS Edexcel Biology Xavier DANIEL, Ph.D.

Introducing Gene Therapy Session 1.14 Unit 1: Lifestyle, Transport, Genes and Health Topic 2: Genes and Health Introducing Gene Therapy Introduction Germ-line therapy Somatic therapy Techniques used in Gene therapy Genetic screening Social and Ethical Issues of Genetic Screening AS Edexcel Biology Xavier DANIEL, Ph.D.

Human Genome Project: sequence the whole human genome 1990 to 2000 Genetic screening Human Genome Project: sequence the whole human genome 1990 to 2000 From first base pair of chromosome 1 to last base pair of sex chromosomes Location and sequence of all genes known Including genes responsible for genetic diseases Screening for mutated genes responsible for genetic diseases Know if individuals are normal, carriers, affected 1. Carriers may be treated before disease appear 2. Couple of carriers may assess the probability of having affected children 3. Couple of carriers may wish to screen the embryos in IVF AS Edexcel Biology Xavier DANIEL, Ph.D.

Genetic screening AS Edexcel Biology Xavier DANIEL, Ph.D.

Screening of IVF-produced embryos Genetic screening Screening of IVF-produced embryos e.g. Down Syndrome One extra chromosome 21 Southern blotting Detection of mutated genes e.g. Cystic Fibrosis AS Edexcel Biology Xavier DANIEL, Ph.D.

Screening of “normally produced” embryos Genetic screening Screening of “normally produced” embryos AS Edexcel Biology Xavier DANIEL, Ph.D.

Genetic screening Southern blotting AS Edexcel Biology Xavier DANIEL, Ph.D.

Introducing Gene Therapy Session 1.14 Unit 1: Lifestyle, Transport, Genes and Health Topic 2: Genes and Health Introducing Gene Therapy Introduction Germ-line therapy Somatic therapy Techniques used in Gene therapy Genetic screening Social and Ethical Issues of Genetic Screening AS Edexcel Biology Xavier DANIEL, Ph.D.

Social and Ethical Issues of Genetic Screening What is right? What is wrong? AS Edexcel Biology Xavier DANIEL, Ph.D.

Social and Ethical Issues of Genetic Screening What is right? What is wrong? AS Edexcel Biology Xavier DANIEL, Ph.D.