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Demetrios Braddock, MD, PhD

Associate Professor of Pathology

Research Summary

  • Vascular Calcification
  • Monogenic Enzyme Deficiencies
  • Rare Diseases of Childhood
  • Biology and Enzymology of Ectonucleotide Pyrophosphatases
  • Osteoporosis
  • Protein Engineering of Biologic Therapeutics

Specialized Terms; Enzymology; Structural biology; Hematopathology; ENPP1 Deficiency; Murine Models of Rare Diseases

Extensive Research Description

My group is primarily interested in biochemical and structural pathogenesis of blood disorders and protein engineering, and have focused our work on understanding the physiologic role of the ENPP family of enzymes. We recently described two members of the ENPP family in brain vasculature that promote platelet aggregation and calcification. Polymorphisms in one of these enzymes (ENPP1) was recently described to confer stroke protection to pediatric sickle cell patients and a lethal neonatal vascular calcification disorder called 'Generalized Arterial Calcification of Infancy' (GACI). Insights into this pathway allowed us to engineer a curative recombinant biologic which corrects disease sequela in GACI, which are moving into patients in collaboration with a company we founded (Inozyme Pharma). 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. We have recently expanded our research into enzyme biologics as therapeutics for oncology and autoimmune indications.


Research Interests

Calcification, Physiologic; Osteoarthropathy, Primary Hypertrophic; Pathology; Pseudoxanthoma Elasticum; Sickle Cell Trait; Rare Diseases; Vascular Calcification

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Selected Publications