Phillip A. Doerfler, PhD

My lab’s long-term research is to enhance genetic therapies by understanding how genes are regulated and how genomes remain stable. We’re focusing on two key areas: the functional genomics of hemoglobin switching, which improves our clinical and biological understanding of β-hemoglobinopathies and studying how blood stem cells respond to DNA damage, particularly from genome editing tools like CRISPR-Cas9. This work is crucial for improving the safety and effectiveness of genetic therapies. Functional genomics of hemoglobin switching Hemoglobin switching is the developmental process where different globin genes are activated at specific stages. Around six months after birth, the fetal γ-globin genes are silenced and the adult β-globin gene is activated, which prompts symptoms of β-hemoglobinopathies like sickle cell disease and β-thalassemia. By studying this switching mechanism, we aim to develop therapies that reactivate γ-globin to treat these conditions. Our research focuses on the genetic elements involved in this switch and how this knowledge can inform genome editing strategies for effective treatments.