Normal disc-shaped red blood cells are flexible and can easily move through large and small blood vessels to deliver oxygen to tissues. In sickle cell disease (SCD), a mutation occurs in a gene called beta-globin, which controls the shape of red blood cells, and helps them carry oxygen to tissues throughout the body. This mutation causes the cells to become distorted into a crescent, or sickle, shape; this can lead to blockages that slow or stop blood flow, preventing oxygen from reaching all tissues, which results in excruciating pain and possible organ damage. This disease is caused by inheriting the “sickle” mutation from both parents.

“Sickle cell disease affects 100,000 people in the U.S. alone.”

Though current technology has improved the treatment and lifespan of SCD patients, the disease still causes recurring pain and ultimately damage to organs. SCD can be cured by blood stem cell transplantation: a patient’s diseased bone marrow (where red blood cells are produced) is eliminated, and blood-forming stem cells–including stem cells from the bone marrow of a healthy donor–are introduced. Over time, they will produce healthy disc-shaped red blood cells that replace the sickle ones, curing SCD. However, access to bone marrow from someone who is a perfect immune system match is extremely rare.

Progress Towards A Cure

A research team led by Dr. Donald Kohn, at the University of California, Los Angeles (UCLA), has developed a procedure that involves harvesting SCD patients’ stem cells and genetically correcting them to prevent sickling. The scientists have tested this technique in a mouse model of SCD, where the modified stem cells created normal, disc-shaped red blood cells, curing their SCD. A human clinical trial is currently underway at UCLA to test this approach in people. The hope is that this procedure will be less toxic than a full bone marrow transplant, and eventually offer a permanent cure for this debilitating disease.

“Only with continued support for biomedical research can we move this therapy forward and, hopefully, make treatment widely accessible for patients.”

SCD is not the first disease in which Dr. Kohn has made significant strides. In 2015, Dr. Kohn and his team developed a cure for a fatal condition called Severe Combined Immunodeficiency (SCID), also known as “Bubble Boy Disease,” because babies are born without working immune systems, so must remain in completely sterile environments. He is currently advancing this approach in another trial for SCID. Concurrently, he is leading a trial for another type of genetic immune disorder, called Chronic Granulomatous Disease, which is also underway at UCLA.

Adrienne Shapiro Speaks At The 2018 World Stem Cell Summit

Benefit # 38 (of 71) of the California Stem Cell Program: FIGHTING SICKLE CELL DISEASE — AND INSULTS?

Imagine pain, excruciating pain, like broken glass in your veins. Now imagine, on top of that, being insulted — at the hospital? Hold that ... read more

Top 5 Stem Cell Research Milestones in the Last 12 Months

October 11, 2017 is Stem Cell Awareness Day. On this day, we celebrate the progress of stem cell research. We reflect on the past year to ... read more

VIDEO: How Stem Cell Research Could Cure Sickle Cell Disease

Stem cell therapy offers the most immediate form of hope for people who suffer from sickle cell disease. Through engineered stem cells, all sickle ... read more

How can stem cells help treat or cure sickle cell disease?

Sickle cell disease (SCD) is caused by a genetic mutation that causes the body to produce deformed red blood cells. Stem cell approaches involve ... read more

Clinical Trials for Sickle Cell Disease

Thanks to funding from Proposition 71, California’s $3 billion investment in stem cell research, and the state funding entity it created, the ... read more

Fighting Sickle Cell Disease is a Family Affair

"I am the fourth generation mother in my family to have a child with sickle cell disease." Adrienne Shapiro knows firsthand what thousands of ... read more