Proceeds from the 1st Annual Rafi’s Run were awarded to Jakub Tolar, MD, PhD, Director of the Stem Cell Institute at the University of Minnesota.
The money we raised last year is for his work in gene therapy. Here is a general and brief description of the work he is conducting.
One of the most exciting technologies we are working on now will enable us to: (a) take a single mature cell from an EB patient’s blood or skin and change or “revert” that cell into something called an iPSC, (b) we can then correct the genetic code on this cell using a technology developed in part here at the University of Minnesota, and then (c) develop the corrected iPSCs into skin or blood cells in sufficient numbers to be therapeutic. This is very exciting given that we are then able to produce an unlimited supply of patient-specific, corrected cells that could help repair problem skin areas (by growing new skin and grafting it on problem areas) and potentially cure the disease when introduced via transplant. Because the new cells are from the patient’s own body (patient-specific) there is no concern over rejection of the skin graft or the newly introduced cells.
What is an iPSC?
A pluripotent stem cell acts like an embryonic stem cell in that they can develop into many different types of cells. Modern science has come to a point where we can make a pluripotent stem cell develop into a specific type of cell (the human body has 300 types of cells) given specific triggers. When we “revert” a mature cell into this pluripotent state, it is called an induced pluripotent stem cell.
How will we correct the genetic code on the iPSC?
We are developing a state of the art gene editing approach using transcription activator-like effector nucleases (TALENs). In a nutshell, TALENs cut out the bad genetic code on the DNA and insert the correct code on the gene. It’s complicated science that is no longer the realm of science fiction.