TeachableMedicalNews article 06162019

Teachable moment in classrooms:

  1. cellular basis of life chapter – concept of one gene, one protein
  2. cellular basis of life chapter – concept of gene mutation leading to protein malfunction
  3. immune system chapter – reliance of white blood cells for immune functions

 

Gene therapy cures bubble boy disease

 

The news item:  Curing the “bubble boy” disease in several infants was reported by US News:

New Gene Therapy Provides Hope of Normal Life for ‘Bubble Boy’ Kids

Researchers say they have cured the genetic immunodeficiency disorder in eight infants so far.

The article states that according to Dr. Ewelina Mamcarz, an assistant member of St. Jude’s bone marrow transplant department “Majority of our patients spent months of their life, first months of their lives in the hospital, some of them withsevere infection in intensive care units on multiple medications to keep them alive,” Mamcarz says. “We were able to remove the protective isolation within three to four months post-gene therapy and send the babies home to their families. They are all toddlers now exploring life, attending day cares.”

 

So, Why Do I Care??

The “bubble boy” disease is a very rare genetic disorder of the immune system; however.  Bone marrow transplants and drug treatments help these patients to stay alive and sometimes to lead normal lives.  What is breakthrough news is that a gene therapy has cured the infant patients, so lengthy and expensive medical treatments may no longer be needed for disease management.

 

Plain English, Please!!!

So, let’s talk about the “bubble boy” disease first. The disease is a result of a genetic mutation which accidentally creates a chemical that poisons the white blood cells of the immune system.  The body has too few immune system cells to fight bacteria, viruses and fungi, and those invader harm or kill the patients. The body can’t fix this problem, as all cells carry this mutation, so there’s no going around it.

Second, let’s talk about gene therapy.  Genes carry information for the maintenance of our lives, much like sentences make up a story about how to maintain life. Mutations make those sentences come out garbled, so a part of the story for our lives is lost.  Gene therapy is the technique where a new sentence is added to the story to replace the garbled one. Once the new sentence is in place, the story reads and plays in a perfectly healthy manner. The new gene is placed in the bone marrow cells of the infant, and the newly engineered cells multiply and create a well-working immune system that now fights the invaders. So, now those patients no longer have to live in a bubble, or have the need for lengthy medical treatments.