Dr. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease. His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.
Dr. Blobel investigates the fundamental mechanisms involving transcription factors, chromatin regulators, and higher order chromatin. He is gearing his basic science discoveries towards genetic and epigenetic treatment modalities. In addition, Dr. Blobel is interested in mechanism of epigenetic memory.
As a physician-scientist, Dr. Bernt's goal is to further the understanding of the role of transcriptional regulation in pediatric hematopoietic stem cell biology and leukemia, and translate findings into novel therapies.
Scientists have harnessed powerful data analysis tools and three-dimensional studies of genomic geography to implicate new risk genes for osteoporosis, the chronic bone-weakening condition that affects millions of people. Knowing the causative genes may later open the door to more effective treatments.
Adenovirus, a common human virus that usually affects the lungs and causes respiratory tract infections, is an old friend to virologists. They have long studied how this virus interacts with host cells to understand cellular processes and reveal key regulators of cellular functions.
Investigators at The Children’s Hospital of Philadelphia are exploring a new gene therapy approach that aims to reactivate the production of fetal hemoglobin as a potential intervention for patients with sickle cell disease.