TeachableMedicalNews article 09112019

Teachable moment in classrooms:

  1. cellular basis of life chapter – concept of exons within a gene
  2. cellular basis of life chapter – concept of gene mutation leading to protein malfunction
  1. urinary system chapter – damage to nephrons causes kidney disease

 

 Can gene editing cure kidney disease?

 The news item:  Recent news hinted at a possible genetic treatment to halt kidney diseases.   The article mentioned Joubert syndrome, and gene editing technology.

Gene editing possible for kidney disease

For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.

So, Why Do I Care??  While Joubert disease affects only 1 in 80,000 people, kidney disorders of other types affect a lot of people. Every year about 3000 people die in the USA while waiting for kidney transplant, the last resort to treat kidney diseases. This research suggests that patients with kidney disorders may be treated gene editing to slow the progression of the disease.

 

Plain English, Please!!!

First, let’s talk about Joubert syndrome. This is a genetic disease with many mutated genes that cause the malfunction of multiple organ systems.  Our entire DNA library is divided into 46 books (the chromosomes), and within each book there are hundreds of chapters (the genes).  The kidney problems of Joubert disease is caused by a chapter where misspellings (the mutations) make it impossible to read more than one page out of the ten total pages.  The kidneys of the patients develop blister-like bubbles, and those bubbles (the cysts) stop the normal functioning of the kidneys.

Second, let’s talk about gene editing.  The new research wanted to edit one chapter by correcting one misspelling, and make that chapter readable.  The tool to correct the misspelling was an artificially made DNA.  That piece of DNA covered up the spelling mistake, and most of the chapter became readable.  The protein made from the edited gene functioned in the kidneys, and the kidney damage of Joubert disease was lessened.