Targeted Gene Therapy

Introduction

Many diseases are caused by the improper function of a single gene. Some examples include:

·      In sickle cell anemia, misshapen blood cells carry less oxygen, which can cause pain and progressive organ damage. It’s caused by a mutation in the hemoglobin gene HBB.

·      Thanks to 2014’s ice bucket challenge, scientists have uncovered the gene likely responsible for the progressive neuromuscular disorder, ALS: NEK1. 

·      A mutation in the gene CFTR results in Cystic Fibrosis, causing health problems because of abnormal mucus production in the lungs and digestive system.   

For all of the above disease, gene therapy could hold the cure. To correct a single defective gene, the correct functional gene can be selectively delivered to the cells (or tissues) to restore normal function. Such targeted gene delivery can be used as therapy for all the above diseases. Delivering the gene to the wrong cells or tissue would be ineffective or even cause harm to the patient.

Questions to guide your reading:

• How can gene therapy be used to treat diseases?

• What are some other applications of gene therapy other than curing defective genes?

• Is gene therapy safe? What are the limitations of gene therapy?

• Which situations is gene therapy currently being used in?

Reading material

• MedlinePlus: Genetics

• Mayo Clinic: Gene Therapy

• MIT Technology Review: 2017 Was the Year of Gene-Therapy Breakthroughs

• University of Utah: What is Gene Therapy?

• Scientific American: Four Success Stories in Gene Therapy 

• Nature: How gene therapy is emerging from its ‘dark age’ 

Video resources

• US FDA: Gene Therapy Inside Out

• AGTC: Gene Therapy Explained