Results for CHOPS Syndrome

Dr. Krantz's lab identifies and characterizes the molecular etiology of syndromic and non-syndromic developmental disorders. He has identified genes for several genetic conditions (Cornelia de Lange Syndrome, CHOPS syndrome, Alagille syndrome, hearing loss) implicating critical molecular pathways in human disorders for the first time. He has been at the forefront of studying the integration of genomics into clinical settings.

Dr. Young’s translational research program aims to understand mechanisms underlying interstitial and rare lung diseases and develop new strategies to treat these disorders. Her laboratory focuses on the roles of epithelial cells in alveolar homeostasis, injury, and repair.

Dr. Kalish's research focuses on understanding the molecular and epigenetic mechanisms that contribute to the predisposition to cancer that is characteristic of pediatric patients with rare imprinted gene disorders, including the overgrowth disorder Beckwith-Wiedemann syndrome (BWS).

Dr. McCormack investigates the intersection of neuroendocrinology and metabolism. Her translational research program involves two areas. The first involves studying those with genetic disorders, including primary mitochondrial diseases and Friedreich's ataxia, with characterized risk for diabetes mellitus. Second, Dr. McCormack focuses on brain disorders associated with excess weight gain, including brain tumor-related hypothalamic obesity syndrome and idiopathic intracranial hypertension.

Dr. Stanley’s lab has identified many of the genes and syndromes associated with congenital hyperinsulinism including ABCC8, GCK, GLUD1, and Turner and Beckwith syndromes. Working with clinical and rodent model studies, his lab team has identified distinctive phenotypes of these disorders, including diazoxide unresponsiveness, leucine sensitivity, and protein sensitivity. Dr. Stanley continues to seek new diagnostic and treatment paradigms for infants with acquired and genetic disorders of hyperinsulinism.

Dr. Gmuca seeks to enhance the care of children with chronic musculoskeletal pain. Her current research addresses amplified musculoskeletal pain syndrome, which is a major public health issue because of its high prevalence, related socioeconomic burden, and associated risk of opioid exposure. Dr. Gmuca’s work aims to identify innovative strategies to improve long-term treatment outcomes for this patient population.

Dr. MacFarland's research focuses on syndromes that predispose to cancer development in children and adolescents. She has initiated several individual and collaborative research projects, working in pediatric polyposis syndromes and Li-Fraumeni syndrome. She is uncovering novel genomic drivers of disease and identifying biomarkers of cancer onset and progression.

Dr. Hartung's clinical and translational research program focuses on autosomal recessive polycystic kidney disease and other genetic kidney diseases, development of new kidney and liver imaging biomarkers, and neurocognitive outcomes in children with chronic kidney disease.

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. Alexander-Bloch investigates normal brain development and the altered developmental trajectories that lead to mental illness. His multi-disciplinary research integrates brain imaging, genomics and clinical information.