September is National Sickle Cell Awareness Month and experts from the National Heart, Lung, and Blood Institute (NHLBI) are available to discuss recent research advances and directions in sickle cell disease, a devastating genetic disease. Among the researchers available to speak to reporters is Dr. John Tisdale, whose work on stem cell transplantation was prominently featured in the Discovery documentary First in Human, which aired in August.
NHLBI researchers are available for interviews about the following topics:
1. Stem cell transplantation: Improving the outcome for children and adults with sickle cell disease
Stem cell transplantation—replacement of bone marrow with stem cells from a healthy, full-matched donor (usually siblings)—is becoming a growing option for people with sickle cell disease. The experimental technique has shown great promise in children with sickle cell. Today, researchers at NHLBI are working on ways to make stem cell transplants safer and more effective in adults, with encouraging results to date. They are also exploring the use of half-matched donors, which, if effective, could expand the pool of potential donors.
WHO: Courtney Fitzhugh, M.D., investigator in the Laboratory of Early Sickle Mortality Prevention, NHLBI, NIH
John Tisdale, M.D., senior investigator in the Molecular and Clinical Hematology Section, NHLBI, NIH
2. Gene therapy and gene editing: Toward the future of sickle cell disease treatments
NHLBI is leading a multi-center nationwide study to test the effects of an experimental gene therapy approach to treat sickle cell disease, much like the well-publicized treatment that helped a patient in France recently. To date, only a handful of patients have undergone the procedure in the United States, including three recipients at the NIH Clinical Center in Bethesda, Maryland. Dr. Tisdale will be available to answer questions about stem cell transplants, gene therapy, and gene editing for sickle cell disease.
WHO: John Tisdale, M.D., senior investigator in the Molecular and Clinical Hematology Section, NHLBI, NIH.
3. Studying genetic changes to stimulate the production of fetal hemoglobin in adults
NHLBI researchers are continuing to study the genetic factors behind sickle cell disease, particularly the factors that influence the formation of HbF, also known as fetal hemoglobin. It is the main hemoglobin in fetuses and responsible for transporting oxygen during fetal life and in infants until they are about 6 months old. HbF protects against the complications of sickle cell disease and can be reactivated in adults using certain drugs and manipulating the genes that control its production. Researchers have identified segments of DNA that are involved in stimulating HbF production in adults. The work has implications in developing new ways to treat sickle cell disease, including new drugs interventions and gene editing to stimulate HbF production.
WHO: Swee Lay Thein, D.Sc., senior investigator and chief of the Sickle Cell Branch, NHLBI, NIH.
4. Preventing stroke and managing pain in patients with sickle cell disease
Stroke is a major cause of disability in children and adults with sickle cell disease. Dr. Harvey Luksenburg, a hematologist with experience in caring for those with sickle cell disease, will discuss strategies to predict, prevent, and reduce strokes in children with the disease, including blood transfusions as well as the role of hydroxyurea. Severe pain is also a major challenge among those with the disease. Dr. Luksenburg, who serves as the NHLBI representative on the NIH Pain Consortium, has a strong interest in helping to improve pain management for those with sickle cell disease. He will discuss challenges and strategies for managing pain, particularly in the wake of the national opioid crisis.
WHO: Harvey Luksenburg, M.D., Special Advisor to the Director, Division of Blood Diseases and Resources, NHLBI, NIH
5. Log on for NHLBI's Facebook Live event
Sickle Cell Research Directions: Advancing to a Widely Available Cure
Date: Thursday, Sept. 14
Time: 11:45 a.m. to 12:30 p.m.
Note to reporters: A select group of patients who have undergone experimental stem transplantation procedures at the National Institutes of Health (NIH) could also be available to be interviewed. To arrange an interview with either researchers or patients, please reach out to the contact number/email listed at the top of this release.