Gene Therapy: Breakthrough Treatments for Rare Diseases

Introduction

The idea of gene therapy is radically changing the sphere of medicine with the possibilities of cure the patients with rare hereditary diseases. These diseases, which are usually brought about by the alteration of the sequence of the DNA, particularly one gene, have for a long time eluded conventional medicine. But gene therapy addresses the source of the problem by providing a cure for the genetic disorders by altering the affected genes or by having a healthy copy of the gene as a substitute.

Understanding Gene Therapy

Gene therapy can be explained as a procedure that aims at using genetic material and applying changes on the gene to cure or prevent the disease. This can be achieved through several approaches:

1. Correcting a genetic mistake involves getting rid of the faulty gene and using a good gene instead.
2. Turning off a damaged gene that is creating difficulties.
3. The process of instilling a new or changed gene into the body to aid in combating a specific illness.

These methods are done by vectors, normally viruses with human DNA inserted into them. Once inside the body, the vector takes the new gene to the required area in the patient’s body and enables the cells of the body to produce the proteins and function as they should.

How Gene Therapy Works

1. Gene Identification: The necessary initial step is that the researchers find out about the gene which is defective in the individual or the population affected by the disease.
2. Vector Development: A vector is one where the correct copy of the gene has to be inserted; usually, it is a virus.
   
3. Gene Delivery: It then enters the patient’s body and provides the healthy gene to the affected cells.
4. Gene Integration: It brings in a new gene to the patient’s body and this new gene has the ability to make the cells of the body function as required.

Types of Gene Therapy

1. Somatic Gene Therapy: Targets non-reproductive cells, which means that changes cannot be inherited from one generation to another. This is widely used type of gene therapy.
   
   
    
2. Germline Gene Therapy: Effects are aimed at the reproductive cells, so the change is passed down to the next generation. This type is comparatively more disputed and has no medical application in human beings because of ethical issues.

Applications in Rare Diseases

Gene therapy has shown promise in treating several rare diseases, including:

1. Severe Combined Immunodeficiency (SCID): Popularly known as “bubble boy disease,"  SCID patients have the inability to develop an immune system. It can provide them the required gene through which they can build a decent immune system.
2. Spinal Muscular Atrophy (SMA): An ailment that is marked by the weakening and slight crumbling of muscles. Gene replacement has been developed to position a working copy of the SMN1 gene, which helped to improve the patient’s life span and quality.
   

Learn more: https://www.pharmafocuseurope.com/articles/gene-therapy-for-rare-diseases

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