In 2019, the first announcements were made of a patient being potentially cured of sickle cell disease. This has been heralded as a landmark moment for the use of gene-editing tools in possibly treating diseases such as sickle cell disease.
Sickle cell disease is a group of disorders that affects hemoglobin, a molecule that delivers oxygen to cells throughout the body. The disease distorts red blood cells into a sickle, or crescent, shape, causing limited blood flow to cells and as a result, inducing chronic pain. After over a decade of genomics research, a cure for sickle cell disease may be at hand.
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Credits:
Production: Prabarna Ganguly, Ph.D., National Human Genome Research Institute
Video: storyblocks.com
Music: Zachary Utz
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Transcript:
Sickle cell disease is a group of inherited blood disorders that affects millions of people worldwide.
American physicist Dr. James B. Herrick first described the disease over 100 years ago in U.S. medical literature.
Sickle-cell disease is the result of both copies in the beta-globin gene.
The beta-globin gene is responsible for producing part of hemoglobin, the molecule that transports oxygen to the blood.
Mutations in the beta-globin gene can cause red blood cells to assume a crescent or sickle shape.
Sickle cell disease disproportionately affects people from certain regions (United States, parts of the Caribbean, parts of Central and South America, parts of the Mediterranean, Middle East, Sub-Saharan Africa and India)
Sickle cell trait is a condition where a person has one copy of the mutated gene but usually does not show disease symptoms.
In 1971, Dr. Charles Whitten established what would become the Sickle Cell Disease Association of America.
In 1972, Congress passed the Sickle Cell Anemia Control Act to increase awareness of the disease.
The National Institutes of Health is committed to using its research excellence to finding treatments for sickle cell disease.
New gene therapy methods have shown promise in treating sickle cell disease.
In 2019, reports showed the first case of a patient being potentially cured of sickle cell disease with gene therapy.
Since then, more cases of marked improvements in people have been reported.
As genome-editing trials have become more common, patients need up-to-date information to potentially authorize and undergo such genome-editing trials.
National Human Genome Research Institute researchers are working with patients and the scientific community to improve the informed consent process for research participation.
After a century's worth of knowledge, a cure for sickle cell disease may soon be at hand.
