TeachableMedicalNews article 09302021
Teachable moment in classrooms:
- cellular basis of life chapter – role of mRNA in protein synthesis
- cellular basis of life chapter – concept of gene mutation leading to protein malfunction
- muscular system chapter – role of nerve impulses in directing muscle contraction
- nervous system chapter – functions of dendrites and axons of neurons
The news item: Recently the following reporting was published by BBC news organization:
‘Gene therapy is a game changer for our son’
A five-month-old becomes the first person in England to get a drug with a list price of £1.79m.
The article describes the symptoms, such as loss of mobility in infants, of the spinal muscular atrophy. The article also mentions the mutant SMN1 gene, and the Zolgensma treatment that replaces the mutated gene. The article states that the frequency of this disorder is 1 in 10,000 births.
So, Why Do I Care?? Most children whose symptoms begin after age 2 have a near normal life expectancy. However, newborns with the “infant-onset” form (about 400 newborns each year) have a very short life expectancy. That is devastating to parents, too, who are helpless while their child lays motionless, and not developing motor skills for movement or speech. Innovative treatments not only raise the hope for a more normal life for the affected infants, but also points to possible treatments of similar disorders.
Plain English, Please!!! First, let’s talk about what is spinal muscular atrophy (SMA). This disorder originates from damaged neurons in the spinal cord. The consequence of that damage is that skeletal