Calcification, Physiologic; Osteoarthropathy, Primary Hypertrophic; Pathology; Pseudoxanthoma Elasticum; Sickle Cell Trait; Rare Diseases; Vascular Calcification
Discovery to Cure Internship
- Structural biology of protein complexes implicated in the pathogenesis of cancer
- Genetic transcription
Specialized Terms; Structural biology; Hematopathology; Genitourinary Pathology
Extensive Research Description
My group is primarily interested in biochemical and structural aspects of blood disorders. We have recently described two endothelial enzymes within the brain vasculature that promote platelet aggregation and calcification. Polymorphisms in one of these enzymes has recently been discovered to confer stroke protection to pediatric sickle cell patients, and calcification disorders that include neonatal orphan diseases. We have recently developed a recombinant biologic to correct metabolic imbalances induced in these disorders, and validated the efficacy of the biologic in rodent models of disease.