CRISPR Gene Therapy Cures Childhood Genetic Diseases, by Doc Smo and Sonya Corina Williams (Pedcast)


If you know a child who has an incurable genetic disease like sickle cell anemia, cystic fibrosis, or muscular dystrophy…there is good news and it’s called CRISPR technology. Stay tuned to learn more about this incredible technology.


Musical Intro


Medical Science Takes a Leap Forward

When we look back at the history of medical science, there are notable moments when technology or treatments jump forward in leaps and bounds, usually as a result of a new technology. Good examples are the development of the smallpox vaccine in 1796 and the discovery of the antibiotic penicillin, in 1928. In the last few years, there has been another one of these breakthroughs – it’s called CRISPR. In fact, Jennifer Doudna and Emmanuelle Charpentier shared the Nobel prize in Chemistry in 2020 for their discovery and application of CRISPR  gene editing. In a moment, you will see why.


What Exactly is CRISPR?

So, what is CRISPR? The catchy acronym is short for a not-so-catchy mouthful of a name: “clustered regularly interspaced short palindromic repeats”. Think of CRISPR as a genetic “cut” and “paste” tool, cutting out disease causing genes and replacing them with healthy normal genes. DNA scissors of a sort. With CRISPR, you can substitute a specific sequence of a child’s disease producing DNA and replace it with a different, properly functioning, sequence. Move over Dr. McCoy of Star Trek, humanity is about to go where no man has ever gone.


Why is this so revolutionary? Because it offers the potential to cure congenital genetic disorders that plague children. With CRISPR we are not treating disease we are eliminating it! When it works, it converts dysfunctional cells into their normal healthy functioning cousins.


Target #1- CRISPR Aims to Cure Sickle Cell Disease


Not only is this technology revolutionary but it already been successful. CRISPR was used for the first time in a human sickle cell anemia patient in 2019. For those not familiar with sickle cell anemia, it is a devastating genetic disorder. Those that inherit the defective sickle gene, their red blood cells change under certain circumstances, deforming into a sickle or half-moon shape thereby preventing them from properly circulating throughout the body. The end result can be repeated episodes of excruciating pain, chronic anemia, organ damage, stroke, and lower life expectancy and quality. For years, sickle cell patients have been given regular blood transfusion to supplement a their body with healthy red blood cells.  But this was a treatment, not a cure. Palliative at best. Up until CRISPR came along, a bone marrow transplant from a close match was the only true “cure” for sickle cell disease.  Most often than not, this therapy was not available because a perfect donor could not be found. CRISPR will likely change all that, since it uses the child’s own genetically corrected stem cells for the bone marrow transplant. Same bone marrow transplant procedure but the source of the transplant is the child’s own “corrected cells” rather than those from a healthy donor.



The Future of Pediatric Medicine


The hope is that this can and will be used more widely in the future. Of course, this is very expensive precision medicine and not widely available right now. But as time passes, it will likely become more accessible and less expensive. Additionally, research is being done on the application of CRISPR to other genetic diseases such as muscular dystrophy, cystic fibrosis, hemophilia, and huntington’s disease with the hopes that it will benefit many children in the future. Stay tuned.




Thanks for joining me today and a special thanks to my blogging assistant and future MD, Sonya Corina Williams. This is Dr. Paul Smolen also known as Doc Smo, hoping that new cures with CRISPR keep coming, because they are amazing and stunning. Until next time.