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Gene-based treatments show promise against sickle cell disease

February 7, 2019

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Sickle cell disease, a group of blood disorders affecting more than 70,000 Americans, including about 1 in 500 African-Americans, is the target of new gene-related therapies that are delivering impressive results.

Sickle cell disease, caused by abnormal hemoglobin genes, is characterized by abnormal red blood cells that take the shape of crescent moons, or sickles, and become stuck in blood vessels. Patients can suffer strokes, organ failure, severe pain, and early death. A blood and bone marrow transplant is the only documented cure, but it’s risky, and many patients are too old for a transplant or lack a matching donor.

As the New York Times recently detailed, all signs of the disease have vanished from a handful of patients in clinical trials focused on manipulating genes. Researchers hope these early effects will endure. “We are in uncharted territory,” said Dr. David A. Williams, chief scientific officer at Boston Children’s Hospital.

Three approaches for altering stem cells

In the trials, scientists modify stem cells removed from a patient’s bone marrow before infusing them back into the patients’ bloodstream. The goal is for the modified cells to take up residence in the bone marrow and form healthy red blood cells, according to the Times. Scientists are testing three approaches for genetically altering the stem cells:

  • Using a virus to insert a viable copy of the hemoglobin gene into the stem cells,
  • Trying to block the gene that triggers production of adult hemoglobin, enabling the patient produce fetal (non-sickling) hemoglobin instead.
  • And gene editing using CRISPR.

The human biospecimens researchers need

We at iSpecimen support research into sickle cell disease and other conditions whose pathology or treatment involves the bone marrow and blood. In fact, we recently announced a major expansion of our broad-based supplier network to offer a full selection of primary human hematopoietic cells from bone marrow and peripheral (circulating) blood, including large-volume leukopheresis collections.

These cells are useful across a wide range of research and development applications, and essential to the discovery, validation, and development of new immunotherapies, cellular therapies, vaccines, and other drugs and diagnostic assays.

In this newest product line, iSpecimen offers prospectively collected mobilized and non-mobilized leukopheresis collections, unprocessed bone marrow, and whole blood from consented, healthy adult participants under IRB-approved collection protocols. All collections are performed at FDA-registered collection sites in the United States.

When laboratory research gets results, clinical trials follow. Here’s hoping that sickle cell treatment continues to yield promising results, giving relief to sufferers and new hope for patients with similar conditions.

Learn about the iSpecimen Marketplace where you can browse millions of richly annotated, de-identified human tissue and biofluid biospecimens, in addition to hematopoietic and immune cell products. You can join for free and creating a login is easy. Request a quote or custom collection today.