Shaw Prize duo breathe life into war on sickle cell anemia

Marcus Lum

The groundbreaking genome-editing therapy that effectively cured sickle cell anemia and ?-thalassemia has earned Swee Lay Thein and Stuart Orkin the Shaw Prize in Life Science and Medicine this year.

The US$1.2 million (HK$9.36 million) award recognizes their contributions to medical science.

Swee Lay Thein, a senior investigator and chief of the Sickle Cell Branch at the National Heart, Lung and Blood Institute in the United States, said sickle cell disease and ?-thalassemia affect more than 20 million people worldwide.

She added that about 5 percent of the global population carries genes associated with hemoglobin disorders, with 300,000 babies born each year suffering from severe forms of these conditions.

Thein said sickling of blood cells occurs due to low oxygen levels resulting from an abnormal hemoglobin protein.

"Hemoglobin is the protein responsible for transporting oxygen throughout the body," she said. "Shortly after birth, there is a switch from fetal hemoglobin to adult hemoglobin."

She also observed that most genetic variations in fetal hemoglobin production arise from changes in genes that encode components other than hemoglobin itself.

Thein discovered a crucial connection between the BCL11A gene, a key regulator of fetal hemoglobin production, and various blood disorders.

Research by Orkin, a Harvard University pediatric professor, complemented Thein's: he identified the BCL11A protein's role as a repressor of the fetal hemoglobin promoter, which is mutated in individuals with hereditary persistence of fetal hemoglobin.

Orkin's studies on mice laid the groundwork for clinical trials employing CRISPR genome editing - technology that modifies DNA within organisms - in patients affected by these diseases.

Reflecting on his journey, Orkin acknowledged the numerous challenges he faced but felt "very privileged" to receive the Shaw Prize, saying his work aims to benefit humanity.