This week, we profile a recent publication in Science by Dr. Vijay Sankaran’s lab (pictured, below).
Dr. Vijay Sankaran (pictured, above) is a distinguished physician-scientist at Boston Children’s Hospital and a Professor of Pediatrics at Harvard Medical School. With a background in both clinical care and molecular research, Dr. Sankaran has emerged as a leading expert in the study of blood development and inherited blood disorders, particularly sickle cell disease and thalassemia.
Learn more about their findings in the paper, “Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes,” in our Q&A with Dr. Vijay Sankaran.
Can you provide a brief overview of your lab’s current research focus?
Our lab is focused on understanding how genetic variation influences blood and immune cell development in health and disease.
What is the significance of the findings in this publication?
This study uses a new method we developed called “Perturb-multiome” to understand how certain key transcription factors control the activity of DNA switches that turn genes on or off in developing blood cell precursors. By tweaking these transcription factors in immature blood cells and reading out both gene expression and chromatin activity in single cells, we identified important DNA regions that strongly affect how blood cells develop. We also discovered that many genetic variants linked to blood-related traits and diseases cluster in these regions, suggesting they are crucial for regulating blood cell formation. Overall, the work provides a roadmap for pinpointing which DNA elements and genes underlie inherited differences in blood cells, offering potential targets for future therapies and a general approach for understanding genetic variation more broadly.
What are the next steps for this research?
We are continuing to refine these and other single-cell genomic approaches to gain new insights into how blood and immune cell production occurs and how this process is perturbed in disease.
This work was funded by the Howard Hughes Medical Institute, the National Institutes of Health, and the Mather’s Foundation.
