Scientist earns Trailblazer Prize for work aiding Casgevy development
FNIH award to Harvard Medical School researcher comes with $10K prize
A Massachusetts scientist has been awarded the seventh annual Trailblazer Prize for Clinician-Scientists by the Foundation for the National Institutes of Health (FNIH) for his research into understanding human blood cell development and how it’s altered in conditions such as sickle cell disease (SCD) — work that helped lead to the development of the gene-editing therapy Casgevy.
The prize went to Vijay G. Sankaran, MD, PhD, a physician at Boston Children’s Hospital and professor at Harvard Medical School. Sankaran’s research into blood cell development helped lay the foundation for developing Casgevy (exagamglogene autotemcel), which was approved last December for the treatment of certain SCD patients.
The Trailblazer Prize recognizes early career clinician-scientists like Sankaran whose research leads to novel approaches for diagnosing, preventing, treating, or curing diseases and disabilities. It comes with a $10,000 honorarium.
“I am deeply honored to receive the 2024 FNIH Trailblazer Prize, which recognizes the tremendous work of my laboratory,” Sankaran said in an FNIH press release. “Our research uses insights from human genetics to gain a deeper understanding of blood cell production in health and disease and develop better treatments for a range of disorders.”
In SCD, mutations in the HBB gene lead to the production of a faulty version of hemoglobin, the protein in red blood cells that’s responsible for oxygen transport.
There are several versions of hemoglobin that can be produced in the body, starting with fetal hemoglobin, made during early fetal development. Sometime after birth, the body stops production of fetal hemoglobin and switches to an adult version of the protein, which is the type affected by SCD-causing mutations. The switch from fetal to adult hemoglobin is mediated by a protein called BCL11A, which essentially tells the body to slow fetal hemoglobin production.
The concept behind Casgevy, codeveloped by CRISPR Therapeutics and Vertex Pharmaceuticals, is to increase the production of fetal hemoglobin after the body would normally have turned it off, as a way of easing the painful symptoms of SCD.
It does so by using the Nobel Prize-winning gene-editing technology CRISPR/Cas9 to reduce the activity of the gene that produces BCL11A. That in turn minimizes the signals that normally stop fetal hemoglobin from being made.
The treatment made history last December when it was approved in the U.S. for the treatment of SCD patients, ages 12 and older, who were experiencing recurrent pain crises. Its approval made it the first-ever therapy using CRISPR technology to be authorized for human use in the country.
Sankaran was a member of the team of scientists who discovered the function of BCL11A, and that suppressing it with CRISPR/Cas9 technology might be a therapeutic strategy for treating SCD and beta thalassemia, a related blood disorder for which Casgevy is also approved.
“Dr. Sankaran’s pioneering studies in genetics and hematology paved the way for a novel sickle cell disease treatment involving the CRISPR gene-editing technology,” said Julie Gerberding, MD, president and CEO of the FNIH. “This approach can serve as a blueprint for the development of other gene editing therapies and represents the innovative thinking that’s a hallmark of Trailblazer Prize recipients.”
Dr. Sankaran’s pioneering studies in genetics and hematology paved the way for a novel sickle cell disease treatment involving the CRISPR gene-editing technology.
According to FNIH, Sankaran has identified thousands of genetic variants involved in various blood conditions, including blood cancers and a rare disease called Diamond-Blackfan anemia.
He has also worked with colleagues to design a method that would triple the production of red blood cells. This might lead to better and more cost-effective methods for manufacturing cells to be used for blood transfusions.
The decision to award Sankaram the Trailblazer Prize was determined by a jury of leaders in biomedical research. Sankaran will be presented with the prize at the 12th annual FNIH awards ceremony that’s being held in October in Washington, D.C.
The physician-scientist also plans to present his research at a scientific meeting next year.
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