Recognizing a Lifetime of Blood, Sweat and Tears

Much of what we know about hemoglobin disorders, such as sickle cell disease, comes down to four decades of work by this Gairdner Award winner.

 |  Transcript [PDF]

Over five million people worldwide have blood disorders because of problems with their hemoglobin, the protein that carries oxygen. This includes conditions like sickle cell disease and beta-thalassemia, which can lead to serious health problems and even death. That’s why they’re a routine part of newborn screening, so that they can be treated early when they happen.

Those treatments are possible today thanks to Stuart H. Orkin‘s research. Much of what we know about how gene expression is controlled as blood cells develop was built on his groundbreaking studies, uncovering the molecular basis of how blood disorders arise.

For these contributions, Orkin is being recognized with the 2022 Canada Gairdner International Award.

“My laboratory, for the last probably four decades, has worked on the genetics and development of blood cells,” says Orkin, professor of pediatrics at Harvard Medical School and Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

“We’ve been particularly interested in how these cells form, what programs within the cells direct their differentiation and actually their functions. And what the Gairdner Award is specifically recognizing is work on red blood cells and how the switch from fetal to adult hemoglobin is controlled.”

Orkin is a driving force behind ongoing clinical trials that could result in new treatments that reactivate fetal globin genes in adults. Expression of fetal hemoglobin could help lessen the severity of hemoglobin disorders by providing a substitute for mutant or deficient adult hemoglobin.

The outcomes of these trials will have significant impact for patients suffering from hemoglobin disorders around the globe, and will encourage the future development of cheaper and more readily accessible therapies for global application.

“Receiving the Gairdner Award is obviously an enormous honour, and I think it obviously validates the work we do,” says Orkin.

“But I think in this particular case it also recognizes the field and how we could use it for a therapeutic benefit. And I think the Gairdner Award really highlights that, and also I think, in a particular case of sickle cell disease, recognizes a disease that perhaps has been under-supported over the years.”

Orkin also thanks his colleagues and family for supporting his rewarding career.

“I’m very thankful obviously for support not only from my academic mentors and colleagues but from my family,” adds Orkin.

“My wife, Roslyn, we’ve been married for over 50 years and have sort of grown up together from our college days right through to I guess our mature years, as they say. I think research, we all realize it’s challenging, it’s exciting. Those of us who are engaged in it I think really love it and are blessed by the opportunity to have a job that we enjoy, that we get gratification from.”

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