It is not every day that the most exciting scientific story of the year comes across your desk. But, this week that is exactly what happened.
A team of researchers from Germany, Austria, and Italy gave a young boy with the genetic disease junctional epidermolysis bullosa (JEB) new skin cells that saved his life. The work is detailed in the Nature paper "Regeneration of the entire human epidermis using transgenic stem cells."
JEB is caused by genetic mutations in the genes LAMA3, LAMB3 or LAMC2. These three genes are required to form the protein laminin - a key component of the extracellular matrix which acts like the glue that holds cells together. When one of these genes is mutated, the extracellular matrix is disrupted and the skin blisters, erodes, and has recurrent infections. This disease is a nightmare - resulting in pain while living and an early death.
So, how did they do it?
What these researchers did is absolutely amazing. But, the science is surprisingly not that complicated. Altering a gene (in this case, making a correction) is done in labs all around the world every day. But, this team of scientists had both talent and luck. They worked with a genetic disease with known mutations in cells that could be modified in cells that could then grafted back onto the patient.
The first step in the process was the correction of the genetic mutation.
This is potentially the least complicated step in this process. The scientists had all of the information and tools necessary to make this happen. The DNA was constructed and put into a virus that infects skin cells. This viral vector is an incredibly useful way to place DNA into cells. The new DNA then becomes part of the genome of the skin cell. In this process, the skin cell now has a corrected version of the mutated gene in their genome.
The second step of the process was making more of the corrected cells. In this particular part of the process, luck was in the researchers (and the boy's) favor because our skin is one of the few organs that have stem cells positioned in and amongst our normal skin cells (called keratinocytes). These are not the frequently discussed pluripotent stem cells; instead, these stem cells are dedicated to making more skin. This is important for the normal wear and tear that happens to our skin. When the mutated gene was corrected in one of these cells, it would make more cells with the corrected gene. Over time, there were enough cells to graft onto the patient.
Both of these two major steps are events that happen in labs across the world every day. But, like many significant advancements, this was made possible by a combination of the right problem, the right tools and good hands of motivated scientists. So, some good old fashioned genetic sequencing and cell culture have saved a boys life - and that is the most amazing scientific story of the year.