Science for All Seasons gives you a chance to explore hot topics in genomics with leading experts from the Broad Institute. Find out what key advances, new technologies, and the latest findings mean for you in this free and open lecture series.
Zebras and unicorns: Rare maladies and a physician-scientist's search for answers
Roughly one in every ten people around the world suffers from a rare disease—and those are just the ones that researchers and clinicians know about. Physician-scientist Anna Greka will talk about the steep uphill battles facing rare disease patients when it comes to getting diagnosed and finding treatment options, her own work studying and treating rare kidney diseases, and the insights that rare disease research can provide into treatments for more common disorders.
Anna Greka, an institute member at the Broad Institute of MIT and Harvard, is a physician-scientist leading the translation of scientific discoveries from the laboratory to clinical trials. She is an assistant professor at Harvard Medical School (HMS), an associate physician in the Renal Division in the Department of Medicine at Brigham and Women’s Hospital (BWH), and the founding director of Glom-NExT, a Center for Glomerular Kidney Disease and Novel Experimental Therapeutics at BWH and HMS.
Her laboratory specializes in the development of personalized and targeted therapies for difficult-to-treat diseases affecting millions of people across the world. Greka’s team focuses on a detailed, mechanistic understanding of the signaling pathways regulating cell metabolism and survival, with an emphasis on calcium signaling and transient receptor potential ion channel biology. Greka’s first-in-human use of B7-1 (CD80) targeted therapy for patients with severe kidney disease has been hailed as ushering in a "new era of podocyte-targeted therapy for proteinuric kidney disease." The discovery resulted in her leadership of the first clinical trial in that area.
Greka holds an A.B. in biology from Harvard College and an M.D. and Ph.D. in neurobiology from HMS. She received her medical and scientific training in the Harvard-MIT program in Health Sciences and Technology in the laboratory of National Academy of Sciences member David Clapham, where she explored the role of TRP channels in neuronal growth cone motility.
There will be blood: Human genetic studies of blood production and disease
Every second, without thinking, our bodies produce millions of red blood cells, white blood cells, and platelets. If this process goes awry, devastating blood disorders can occur, including anemia and leukemia. Vijay Sankaran is interested in how this process happens normally and how it can be perturbed in disease. He will discuss work from his laboratory that provides insight into the process of blood cell production, and talk about how these findings are leading to the development of improved treatments for blood diseases such as sickle cell disease and thalassemia.
Vijay Sankaran is an assistant professor of pediatrics at Harvard Medical School, an attending physician at Dana-Farber/Boston Children's Cancer and Blood Disorders Center, and an associate member of the Broad Institute.
Sankaran received his B.A. degree in biochemistry summa cum laude and with honors from the University of Pennsylvania with a concomitant M.S. degree. He went on to get an M.Phil. degree in biochemistry at the University of Cambridge, and earned his M.D. magna cum laude and Ph.D. in genetics at Harvard Medical School in 2010. He then received training as a house officer in pediatrics at Boston Children’s Hospital and Boston Medical Center and as a fellow in hematology/oncology at Dana-Farber Cancer Institute and Boston Children’s Hospital. While receiving clinical training, Sankaran also performed postdoctoral research as a visiting scholar at the Broad and Whitehead Institutes in Cambridge. Sankaran is a practicing pediatric hematologist caring for patients with red blood cell and bone marrow failure disorders.
Sankaran’s laboratory uses human genetics to gain an improved understanding of hematopoiesis. Members of the laboratory perform whole exome and genome sequencing, coupled to functional follow-up approaches, to study rare mutations that result in blood disorders. The laboratory team has also utilized genome-wide association studies and follow-up functional studies to gain important insight into blood cell formation. The laboratory has identified key regulators of the fetal-to-adult hemoglobin switch and defined a number of mutations causing congenital forms of anemia.
Sankaran has received numerous awards, most recently the 2015 Young Investigator Award from the Society for Pediatric Research, the 2015 Rising Star Award from Boston Children’s Hospital, and the 2016 Young Investigator Award from the International Society for Experimental Hematology. Sankaran has published over 60 peer-reviewed articles in journals including The New England Journal of Medicine, Nature, Nature Medicine, Science, Cell, The Journal of Clinical Investigation, Cell Stem Cell, and Proceedings of the National Academy of Sciences.