When people think of the monumental achievements of science, most think of landing a man on the moon and bringing him home again. That is an impressive feat. However, science didn’t stop progressing in 1969. We went back to the moon. We are developing incredibly sophisticated computers that most people carry around in their pockets every day. We mapped the human genome. It took 13 years and thousands of man-hours to complete, but we accomplished it. Mapping the genome wasn’t just for posterity. We can now use what we’ve learned to help future generations.
But what about the tremendous steps made by scientists who research diseases, in particular, genetic diseases. Recently, scientists applied a gene-editing tool to the mutated genes that cause sickle cell anemia (SCA).
Researchers from several universities in the United States have worked together to innovate a process that attempts to repair the genetic mutation that creates the hallmark sickle-shaped red blood cells of sickle cell anemia in certain people. The process is still in its infancy, but the potential promise is staggering.
Scientists are working on SCA for a few reasons. Firstly, this disease is relatively common in the United States, affecting nearly 100,000 people, mostly of African-American decent. Secondly, the mutation that causes sickle cell anemia occurs in only one place in the genetic code, as opposed to many other disorders that are caused by numerous mutations in different parts of the code.
Researchers hope that perfecting the procedure within SCA will allow it to be developed further to treat other diseases in the future.
This extremely difficult procedure can only hope to repair 6% of the mutated cells currently. That may not sound like much, but it could be the difference between being diagnosed with sickle cell anemia and sickle cell disease or not diagnosed at all.
The procedure, using technology known as CRISPR, essentially disables the genome temporarily while a pre-made molecule acts like a surgeon by snipping and replacing the mutated section of the genetic code.
You can read more about how the CRISPR technology is being used with CGD elsewhere on Patient Worthy by click here.
Scientists have tried to edit genetic codes in the past to mixed results. They effectively edited out part of the mutation but attempts to edit stem cells failed. Unfortunately, the scientists involved in that study are unsure why the repaired stem cells didn’t take. Perhaps they will yet discover the reason behind the failure and improve the technique.
As they continue to refine the technique, researchers are hopeful that clinical trials may begin sometime within the next few years.
Click here to read more about this exciting breakthrough in genetic manipulation.