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Hope Grows for Sickle-Cell Patients

May 19, 2022

One of the most compelling medical reads you’ll encounter is this New Yorker piece, “Are We About to Cure Sickle-Cell Disease?,” on the potential to actually cure patients who have sickle-cell disease.

The genetic condition causes red blood cells to become sticky and take on a sharp, crescent-like shape, thereby clogging blood vessels and triggering excruciating pain. CDC estimates sickle-cell disease affects approximately 100,000 Americans and occurs among about 1 out of every 365 Black or African-American births.

Author/physician/educator Dhruv Khullar explores the promise of gene therapies – and cases of patients who, for the first time, may be cured – as well as the shortcomings of traditional treatments. One possibly cured patient went from “barely existing” and “ready to give up” to being able to “do all the things I always wished and dreamed that I could one day do.”

What a cure requires

The article also incorporates important context, including the history of the disease, a malaria paradox, research funding inequities, race issues, cultural obstacles, and the need for the entire medical system to pull together.

“More than a century after sickle-cell disease was first diagnosed, advances in gene therapy are poised to make it not just treatable but curable,” Khullar writes. “But technology is only one part of medicine. The treatments won’t be cheap, and many of the people who need them the most are on the fringes of a medical system that has marginalized them. Sickle-cell disease traces the deep, long-standing inequities of American society. Defeating it will require confronting them.”

Blood-producing stem cells at the center

One of the most promising new gene therapies – from Vertex Pharmaceuticals and CRISPR Therapeutics – involves editing hematopoietic stem and progenitor cells from the patient’s blood then reinfusing them back into the patient as part of a stem cell transplant. All seven patients in the trial were free of painful vaso-occlusive crises, the companies reported last year. This approach would potentially eclipse a decades-old treatment option, bone marrow transplant that involve compatible donors (called allogenic transplantation). Khullar calls these treatments risky and rare with only about 1,200 performed in the U.S. since 1984.

Hematopoietic stem and immune cells for research

As we blogged in 2020, this work an exciting example of innovative biomedical research involving hematopoietic stem cells, which are available from both healthy and diseased patients through the iSpecimen Marketplace. Researchers use these types of tissue and cell products to develop stem cell therapies, immunotherapies, vaccines, diagnostics, new treatments for infectious and autoimmune diseases, and in cell-based assays to advance drug discovery/preclinical development.

Tireless research leads to cures, and cures are miracles. Let’s keep them coming.