Demetrios Braddock, MD, PhD

Demetrios Braddock was born in Tennessee, educated at the University of Chicago, trained at the NIH in Anatomic Pathology and Biophysical Chemistry, and came to Yale in 2004. He practices Hematopathology and leads a laboratory that studies the ENPP enzymes – a family of extracellular enzymes that create small molecules in the extracellular environment that regulate organismal homeostasis in processes such as hemostasis, bone mineralization, and vascular development. We are especially interested in a rare disease of lethal vascular calcifications called 'Generalized Arterial Calcification of Infancy' (GACI) associated with ENPP1 deficiency, and designed and validated an enzyme therapy that was curative in a mouse model of GACI. We are now moving this therapy into patients in collaboration with a company we founded (Inozyme Pharma) and clinical trials are now underway in diseases associated with ENPP1 and ABCC6 deficiency (ClinicalTrials.gov: NCT04686175 & NCT05030831). We have also identified a form of early onset osteoporosis associated with ENPP1 deficiency, and are investigating the role of ENPP1 in low bone mass and increased tissue calcification, a medical condition called 'Paradoxical Mineralization' which occurs in the general medical population in conditions such as aging and chronic kidney disease.