Dr. Ackermann studies diabetes (types 1 and 2) and congenital hyperinsulinism using mouse models, cell lines, and primary human tissue. She aims to identify novel pathways regulating beta cell insulin secretion, leading to innovative therapeutic strategies for these disorders. Current studies include in vivo mouse physiology, ex vivo human islet physiology, CRISPR-Cas9 gene editing, epigenetic modification, and single-cell functional genomics.
Dr. Shah's research is centered on understanding obesity and its related complications. Her current work includes clinical and translational studies exploring pathophysiology and modulation of obesity-related adipose tissue and systemic inflammation using human cell lines and clinical trials. She is also involved in clinical studies of outcomes and risk factors of polycystic ovarian syndrome and type 2 diabetes in teens.
Dr. Maris investigates the molecular and genetic mechanisms contributing to the development and progression of neuroblastoma, a common childhood cancer. He also aims to develop new molecular diagnostic tests and less toxic, targeted therapies to treat relapsed or refractory neuroblastoma, including a major effort in immunotherapy discovery and development.
It was weekend of firsts on many fronts, as physicians, genetic counselors, nurses, researchers, and families gathered July 21–23 at Children’s Hospital of Philadelphia Research Institute for the inaugural Deciphering Beckwith-Wiedemann syndrome (BWS) conference. BWS is a rare overgrowth disorder involving genetic and epigenetic changes that occur approximately every one in 10,500 births.
A study published in the Journal of Clinical Endicronology & Metabolism shows a drug approved to treat Crohn’s disease and ulcerative colitis leads to “rapid improvements” in bone density and structure.