Bone disorders exact a considerable toll on human health in both children and adults. Dr. Long seeks to understand the fundamental mechanisms underlying both normal skeletal development and the pathophysiology of bone diseases. His current research includes studies of skeletal stem cells and progenitors, metabolic regulation of bone cells, and the integration of bone and whole-body metabolism.
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. Cardinale's research is focused on understanding the mechanisms of gene expression and gene regulation in autoimmune diseases, including inflammatory bowel disease, type 1 diabetes, and systemic sclerosis. He uses data from large-scale genomic studies to identify disease-causing genetic variants and functionally explore the target genes of those variants.
Understanding the mechanisms by which the skeleton forms and grows in healthy babies and children and using this information to uncover the pathogenesis of rare and common musculoskeletal disorders by working with animal models of the diseases.
The Krantz lab focuses on identifying molecular etiologies of multisystem developmental diagnoses, structural birth defects, and intellectual disability. Using cellular and animal models, the investigators study newly identified genes towards identification of therapeutic targets. The lab is at the forefront of adapting new genomic technologies to the clinical setting and studying the impact on the clinicians and families involved.