POTENTIAL TARGET DISEASES FOR GENE THERAPY SOURAV.pptx

Theoretically, gene therapy is the permanent solution for genetic diseases. But it has several complexities. At its current stage, it is not accessible to most people due to its huge cost. A breakthrough may come anytime and a day may come when almost every disease will have a gene therapy Gene therapy have the potential to revolutionize the practice of medicine.

1. Department of Pharmacy Guru Ghasidas Vishwavidyalaya, Bilaspur (CG) POTENTIAL TARGET DISEASES FOR GENE THERAPY Presented by- Sourav Paul Department of Pharmaceutics, 2 nd Semester Roll no.: 23082112

2. INTRODUCTION 01 CONCLUSION 03 TARGET DISEASES 02 REFERENCES 04 TABLE OF CONTENTS

3. INTRODUCTION 01 What is a Gene ? What is Gene Therapy ?

4. What is a Gene ? Gene is the basic unit of heredity passed from parent to child. Genes are made up of sequences of DNA and are arranged, one after another, at specific location on chromosomes in the nucleus of cells. A gene is a sequence (a string) of bases. It is made up of combinations of adenine (A), thymine (T), cytosine (C), and guanine (G).

5. What is a Gene Therapy ? The term gene therapy describes any procedure intended to treat or alleviate disease by genetically modifying the cells of a patient. It encompasses many different strategies and the material transferred into patient cells may be- 1. Genes 2. Gene segments 3. Oligonucleotides . There has several approaches to gene therapy, including: i ) Replacing a mutated gene that causes disease with a healthy gene; ii) 'Knocking out' or inactivating, a mutated gene that is functioning improperly; and iii) Introducing new genes into the cells to protect from any diseases

6. POTENTIAL TARGET DISEASES FOR GENE THERAPY 02

7. Potential target diseases for Gene Therapy Three types of diseases prospected for gene therapy can be distinguished: 1. Monogenic disorders , single locus (gene) is defective 100% heritable. Examples: Sickle cell anemia , Severe Combined Immunodeficiency (ADA-SCID / X- SCID), Cystic fibrosis, Hemophilia , Duchenne Muscular dystrophy, Huntington’s disease, Parkinson’s 2. Polygenic disorders , multiple genes involved. Examples: Heart disease, Cancer, Diabetes, Schizophrenia and Alzheimer’s disease. 3. Infectious diseases , such as HIV. Inherited Disorders: A disorder caused by mutations (changes) in certain genes or chromosomes that are passed down from parent to child. Hereditary syndromes may be inherited from one or both parents, and several close family members (such as a mother, daughter, and sister) may have the same disorder.

8. Cont.. Severe Combined Immune Deficiency (ADA-SCID)  ADA-SCID (Adenosine de- aminasedeficient severe combined immunodeficiency) is also known as the bubble boy disease. Affected children are born without an effective immune system and will succumb to infections outside of the bubble without bone marrow transplantation from matched donors. The therapeutic gene called ADA was introduced into the bone marrow cells of such patients in the laboratory, followed by transplantation of the genetically corrected cells back to the same patients. The immune system was reconstituted in all six treated patients without noticeable side effects, who now live normal lives with their families without the need for further treatment. 

9. Cont.. Chronic Granulomatus Disorder (CGD) CGD is a genetic disease in the immune system that leads to the patients inability to fight off bacterial and fungal infections that can be fatal. Using similar technologies as in the ADA-SCID trial, investigators in Germany treated two patients with this disease, whose reconstituted immune systems have since been able to provide them with full protection against microbial infections for at least two years.

10. Hemophilia Cont.. Hemophilia is caused by a mutation in the genes responsible for the production of blood clotting factors, leading to excessive bleeding . Patients born with Hemophilia are not able to induce blood clots and suffer from external and internal bleeding that can be life threatening. In a clinical trial conducted in the United States , the therapeutic gene was introduced into the liver of patients, who then acquired the ability to have normal blood clotting time. The therapeutic effect however, was transient because the genetically corrected liver cells were recognized as foreign and rejected by the healthy immune system in the patients. This is the same problem faced by patients after organ transplantation, and curative outcome by gene therapy might be achievable with immune-suppression or alternative gene delivery strategies currently being tested in preclinical animal models of this disease.

11. Cystic Fibrosis Cont.. 1 Genetic Cause Cystic fibrosis is caused by a mutation in the CFTR gene, which regulates the production of a protein that controls the movement of salt and water in and out of cells. 2 Symptoms The condition leads to the buildup of thick, sticky mucus in the lungs, pancreas, and other organs, causing respiratory and digestive problems. 3 Gene Therapy Approach Gene therapy aims to deliver a functional copy of the CFTR gene to the affected cells, restoring the proper production and function of the protein.

12. Condition Genetic Cause Gene Therapy Potential Parkinson's Disease Mutations in genes involved in the production and regulation of dopamine Delivering healthy genes to restore dopamine production and function Huntington's Disease Expansion of the huntingtin gene, leading to the production of a defective protein Suppressing the expression of the mutant huntingtin gene or replacing it with a healthy version Alzheimer's Disease Complex interplay of genetic and environmental factors, with some rare cases linked to specific gene mutations Targeting underlying genetic factors and pathways involved in the disease process Neurodegenerative Diseases Cont..

13. Genetic Basis Many cancers are driven by mutations in genes that regulate cell growth, division, and survival, leading to uncontrolled proliferation of abnormal cells. Gene Therapy Approaches Gene therapy for cancer aims to either directly target and eliminate cancer cells or enhance the body's immune response to recognize and destroy them. Cancer Cont.. Types of Gene Therapy used against Cancers. Immunotherapy Oncolytic Virotherapy Gene Transfer

14. Cont.. Gene Transfer Introduces new genes into a cancerous cell or the surrounding tissue to cause cell death or slow the growth of cancer e.g. in solid tumors. Immunotherapy Uses Genetically manipulated cells and viral particles to stimulate the immune system to destroy cancer cells e.g. lung cancer. Oncolytic Virotherapy Uses viral particles that replicate within the cancer cell to cause cell death; e.g. metastatic cancers

15. CONCLUSION Theoretically, gene therapy is the permanent solution for genetic diseases. But it has several complexities . At its current stage, it is not accessible to most people due to its huge cost. A breakthrough may come anytime and a day may come when almost every disease will have a gene therapy Gene therapy have the potential to revolutionize the practice of medicine.

16. REFERENCES Mandal Sanchita , Jhade Deenanath , Mohite A. Priyanka , A text book of Molecular Pharmaceutics, PV Publication, Pg no. 193-195. S.P. Vyas and R.K. Khar , Controlled drug delivery concepts and advances, New Delhi, First edition 2002.

17. THANKS ! Do you have any questions?