Scientists awarded US$1.2m Shaw Prize for groundbreaking discoveries

Marcus Lum

Two scientists were awarded the prestigious Shaw Prize in life science and medicine for their groundbreaking discoveries related to the genetic and molecular mechanisms underlying the fetal-to-adult hemoglobin switch.

This work has paved the way for a genome-editing therapy to treat sickle cell anemia and beta thalassemia - debilitating blood disorders that affect people around the world.

The recipients are Malaysian hematologist Swee Lay Thein, senior investigator and chief of the Sickle Cell Branch at the National Heart, Lung, and Blood Institute of the National Institutes of Health in the USA, and American stem cell biologist Stuart Orkin, a David G Nathan Distinguished Professor of Pediatrics at Harvard Medical School.

"Thein's research identified the key genetic regions that influence variation in the sickle cell trait, mapping these changes to a gene called BCL11A - a major regulator of fetal hemoglobin production," said professor Bonnie Bassler, chair of the selection committee for the life and medical sciences prize.

Orkin experimentally demonstrated that manipulating BCL11A could correct the disease phenotype in mouse models of sickle cell disease, providing the scientific foundation for clinical trials using CRISPR genome editing in patients with sickle cell disease and beta thalassemia.

Bassler said that sickle cell disease is caused by an abnormal form of hemoglobin, the oxygen-carrying protein in red blood cells. Thein discovered that targeting BCL11A could reactivate fetal hemoglobin production, which has proven to be a promising therapeutic strategy to counteract these devastating disorders.

The committee noted that two sickle cell stem cell therapies have already been approved by the US Food and Drug Administration, with one of them directly based on the pioneering work of Thein and Orkin. This represents the first approved therapy utilizing the revolutionary CRISPR genome editing technology.

Professor Chan Wai-yee, a member of the Shaw Prize Council, said: "These new treatments could significantly benefit people with sickle cell anemia and beta thalassemia, especially in Africa, as they avoid the complications and side effects associated with regular blood transfusions."

Also to the life science and medicine prize, the Shaw Prize recognized achievements in astronomy and mathematics this year. Indian scientist Shrinivas Kulkarni was awarded the prize in astronomy for his groundbreaking discoveries related to millisecond pulsars, gamma-ray bursts, supernovae and other transient astronomical phenomena.

South African mathematician Peter Sarnak received the prize in mathematical sciences for his pioneering work in the arithmetic theory of thin groups and the affine sieve.

Each of these prestigious Shaw Prizes carries a monetary award of US$1.2 million (HK$9.36 million), and the award ceremony will take place on November 11.

marcus.lum@singtaonewscorp.com