Helen Bolando, a 16 year old living with sickle cell disease, recently became the youngest recipient of an experimental treatment at Boston Children’s Hospital. This treatment made her the youngest person to have her DNA manipulated in hopes of reversing sickle cell’s effects.
What is sickle cell disease?
Sickle cell disease is a disorder caused by a gene mutation that causes the shape of blood cells to resemble that of a crescent. Characteristics of sickle disease include a low red blood cell count and frequent infections. Due to their shape, blood cells in individuals with sickle cell cells break down too early, causing a lack thereof. This lack of blood cells is known as sickle cell anemia and causes a multitude of symptoms ranging from fatigue and shortness of breath, to delayed growth in children. Painful episodes are also common due to the shape of the red blood cells. Their crescent shape causes blockages in blood vessels, depriving organs and tissues of oxygen, sometimes leading to organ failure.
A new gene therapy?
Researchers at Boston Children’s Hospital have found that hemoglobin genes (genes found in the blood) are only active in the preceding red blood cells. These genes are only active for 4-5 days before red blood cells mature and when they’re active, they communicate with other cells through communication such as long distance signaling, as we’ve learned earlier in our bio class . The question for researchers is as follows: “How do you manipulate a gene, or put a gene in, so it is expressed only in those cells and at high levels?” New treatments to solve this burning question include the extraction of immature blood cells from patient’s bone marrow. These stem cells are then genetically modified and re-infused in hopes of creating new, healthy blood cells. Even more interestingly, scientists have found that fetal blood cells have an absence of sickle cells and are testing ways to block the gene that stops fetal hemoglobin production and begins that of adult hemoglobin.Bluebird Bio, a biotech company in Cambridge, Mass conducted a study during which nine patients were treated with gene therapy. Results stated that four patients of the nine who were treated at least six months earlier, produced enough hemoglobin to no longer have the symptoms of sickle-cell disease!
Researchers are making incredible strides in solving this painful disease using extremely creative and innovative techniques! Are there any other methods of solving sickle cell disease you can think of based on what we’ve learned so far about cell communication?