Chief of the Sickle Cell Branch of the National Heart, Lung, and Blood Institute, NIH
Her story: Swee Lay Thein was educated in both Malaysia and the United Kingdom. She has long been interested in studying blood disorders, particularly the clinical and molecular aspects of sickle cell disease and beta-thalassemia. She served as clinical director of the Red Cell Centre in King’s College Hospital, where she treated a large cohort of adult patients with sickle cell disease. As a laboratory researcher, she developed a strong interest in fetal hemoglobin, the main hemoglobin in fetuses that is responsible for transporting oxygen during fetal life and in infants until they are about 6 months old. Fetal hemoglobin protects against complications of sickle cell disease by blocking the effects of sickled hemoglobin. Dr. Thein’s research explores the underlying genetic mechanisms affecting the formation of fetal hemoglobin, which could lead to new ways to reduce the severity of sickle cell disease complications, including pain.
Biggest challenges: Dr. Thein notes that while sickle cell disease is now getting more public attention, it’s still poorly understood. “My challenge is to bring together my colleagues researching this field. There are so many unmet needs, and we need to manage pain much better in our patients. We need more treatment options for our patients. The good news is that there are more clinical trials, but we need to encourage and educate our patients to be more research-aware as it is only through patient participation that new drugs can be validated and approved.”
Aha moment: Thein discovered segments of DNA, including the BCL11A gene, that are involved in stimulating fetal hemoglobin production. Her study has reactivated interest in increasing fetal hemoglobin as a way of treating sickle cell disease, including the possibility of using gene editing to activate the BCL11A gene. “Before the study, BCL11A was known as a gene involved in cancer, not in red blood cell disorders.”
Her motivator: “I am excited to be at NIH. This is a place where I can put into practice the ideas I developed while looking after a very large cohort of sickle cell disease patients that I followed for almost 15 years. Being able to work with colleagues who are as motivated as I am and having access to state-of-the-art facilities drives me on.”