Rationale: Hereditary angioedema (HAE) is a genetic condition characterized by dysregulation of the complement pathway leading to intermittent and recurrent episodes of angioedema. The goal of this project was to […]
Development and implementation of an automated severity scoring system to identify patients at possible increased risk for ten lysosomal disorders
Development and implementation of an automated severity scoring system to identify patients at possible increased risk for specific genetic conditions
Introduction: Rare genetic conditions are notorious for being excluded from differential diagnosis of nongenetic specialists. This delay in diagnosis can lead to poorer health outcomes for patients and delay in […]
Decreasing the diagnosis odyssey of patients living with Fabry disease via a patient-centered innovative web-based platform
Multisystemic Fabry disease signs and symptoms can be nonspecific and may be misdiagnosed or attributed to other chronic health conditions. Recent articles report that the time from first symptom to […]
