Gary H. Gibbons, M.D. - September 20, 2016
September is National Sickle Cell Awareness Month, prompting all of us to take a moment to reflect on this devastating genetic disorder and why it is so important to advance research that may lead to better symptom management and potentially, a cure. Sickle cell disease (SCD) today has almost 100,000 people in its grip in the United States, and millions more worldwide. Many suffer terribly and die young.
While more than 100 years have passed since the original clinical description of SCD, the National Heart, Lung, and Blood Institute (NHLBI) remains dedicated and committed to cutting-edge research in SCD. The Institute supports a multitude of researchers in active pursuit of innovative ways to help people with the disease live longer, more gratifying lives. They are making ground-breaking discoveries and unearthing new clues every day. However, the challenges are complex.
Since its inception, the NHLBI has fostered seminal basic, clinical, and translational research with clinical relevance and health impact in the field. The NHLBI played a crucial role in supporting research that identified the genetic basis of the disease as well as the biological mechanisms of red blood cell sickling and its consequences. Today, we are stepping up our efforts even more. Through engagement with the NHLBI community to develop our recently released Strategic Vision, we have identified key priorities in SCD research to be addressed over the next decade. Furthermore, we have dedicated a revamped, state-of-the-art laboratory on the NIH campus to SCD research.
In addition, the NHLBI supports a number of clinical trials that have identified promising therapies and continue to explore ways to maximize treatment benefits for more patients, enhance pain management protocols, and improve bone marrow transplant procedures to increase the body’s acceptance of donor stem cells. Last year, the NHLBI concluded the Transcranial Doppler with Transfusions Changing to Hydroxyurea (TWiTCH) trial. Based on earlier research funded by NHLBI, regular blood transfusions have become the standard of care for reducing the risk of stroke in children with sickle cell disease. The TWiTCH study found that daily treatment with hydroxyurea is as effective as blood transfusions at reducing blood flow velocities in the brain, a key risk factor for stroke. The NHLBI is committed to further study of treatment options for preventing strokes and other sickle cell-related complications.
While we have made great strides in understanding how to reduce the pain and suffering associated with SCD, we recognize the importance of translating these research findings into real world outcomes. To address some of the challenges in implementing and supporting evidence-based medicine for SCD, the NHLBI is fostering research opportunities to better examine the barriers to care and strategies to enhance health in SCD. The SCD Implementation Consortium (SCDIC) is designed to support clinical sites to investigate strategies to improve the health and well-being of adolescents and adults living with SCD in the US through the development of study interventions that improve the care delivered.
The NHLBI is also poised to explore how precision medicine can bring new insights to SCD through the Trans-Omics for Precision Medicine (TOPMed) program, which now includes participants with sickle cell disease. The TOPMed program provides unprecedented opportunities to integrate genomic analysis with clinical, environmental and other data to examine contributions to variations in disease severity and responses to treatment. These types of studies may identify improved treatment options tailored to each patient’s unique symptoms and disease characteristics.
Over the next decade, the NHLBI will continue to foster an environment of cutting-edge, innovative research on SCD, and remains committed to translating and disseminating research findings to improve care for patients.
I have been inspired by the enthusiasm of our investigator and broader NHLBI community, who work tirelessly to advocate, educate and support patients with SCD domestically and around the globe. By actively engaging patients, families, practitioners, and communities, we are building critical partnerships that one day will lead to a generation of individuals living free of complications from sickle cell disease.