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Stuart Orkin Honored for his Lifetime Research on Blood Development

When colleagues describe Stuart H. Orkin, MD, associate chief of hematology/oncology at Boston Children’s Hospital and chair of pediatric oncology at Dana-Farber Cancer Institute, the words “immeasurable,” “vanguard” and “mentor” quickly roll off the tongue.

In honor of his 35-year career and commitment to blood cell research, Boston Children’s Hospital presented Orkin with the 2015 Lifetime Impact Award, during Boston Children’s Global Pediatric Innovation Summit held this week. The award recognizes a clinician and/or researcher who has significantly impacted pediatric care through practice-changing innovations or discoveries and made extraordinary and sustained leadership contributions in health care throughout his or her career.

“Dr. Orkin’s contributions to the patients, families and staff from both our hospitals have been immeasurable,” said Boston Children’s Hospital CEO and President Sandra L. Fenwick in an interview. “For all of his dedication to research and care, he has never lost sight of teaching the next generation of researchers and caregivers. We have all learned so much from him, particularly when it comes to commitment to excellence.”

During his acceptance speech, Orkin thanked his colleagues and mentors, his loving and supportive wife and those who nominated him.  His message was humble but succinct: When it comes to research, there is still much to do.

“For the 35 years I have been an investigator at Boston Children’s, we’ve seen incredible changes in the landscape of science,” Orkin told the roomful of Summit attendees. “I don’t think we are done yet. We have a lot more to do, particularly to try to apply not only genetics but other technologies, such as chemistry, to really broaden the scope of what can be done to treat genetic disease on a global scale.”

Orkin, a 1972 Harvard Medical School graduate, conducted postdoctoral research at the National Institutes of Health and clinical training in pediatrics and hematology/oncology at Boston Children’s Hospital and Dana-Farber Cancer Institute.

Guided by his mentor — 2014 Lifetime Impact Award recipient David G. Nathan, MD — he set out to understand the molecular drivers of blood cell development (hematopoiesis). In the process, he has consistently led the field of hematology/oncology in bringing new technologies to bear on the study of cancer and blood disorders.

Orkin’s laboratory was one of the first to apply molecular biology and DNA sequencing techniques to thalassemia, a blood disorder characterized by defects in genes that provide the instructions for producing hemoglobin (the oxygen-carrying protein in red blood cells). In addition, he has systematically dissected the hematopoietic process, identifying nearly every one of the master genes called transcription factors that regulate the development of every cell type found in the blood.

“When I first started we could barely clone; then we learned how to sequence DNA,” he said. “Once we had defined a mutation in thalassemia, which was the first instance where we had all mutations in a given disease, prenatal diagnosis could be applied and very successful.”

In recent years, Orkin’s laboratory has probed deeply into the roles of two molecular switches — a gene called BCL11A and an enhancer that controls its activity— in controlling production of the adult and fetal forms of hemoglobin.

Orkin and his collaborators are attempting to use gene editing technologies such as CRISPR to manipulate BCL11A‘s enhancer and force red blood cells to dial down adult hemoglobin production in favor of the fetal form, thereby providing a genetic cure for thalassemia and sickle-cell anemia.

“The advances in technology have allowed us to go from one step to another,” Orkin added. “Likewise, we are looking to the future and the not-so-distant future when gene manipulation and gene editing will be part of the therapy.”

Orkin’s rich and robust career includes membership in the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. He is a fellow of the American Association for the Advancement of Science, an investigator with the Howard Hughes Medical Institute, and the David G. Nathan Professor of Pediatrics at Harvard Medical School. In addition, Orkin was the 2013 recipient of the Jessie Stevenson Kovalenko Medal of the National Academy of Sciences, and honored for his pioneering achievements in defining the molecular basis of blood disorders and mechanisms governing the development of blood stem cells and individual blood lineages.

“Stu has always been in the vanguard when it comes to expanding our understanding of gene regulation, hematopoiesis and how they can go awry to cause blood disorders and leukemias,” said David A. Williams, president of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. “We will continue to see the impact of his work as a scientist, a leader and a mentor for years to come.”

Watch video highlights of the 2015 Global Pediatric Innovation Summit + Awards.