Machine learning achieves promising performance in early diagnosis of rare diseases
Delays in the diagnosis of rare genetic conditions such as acid sphingomyelinase deficiency (ASMD) highlight the necessity for diagnostic algorithms to help clinicians identify patients at high risk of such diseases. To address this, electronic health records (EHRs) and machine learning (ML) were used to develop an ASMD diagnostic algorithm, which achieved promising results. In […]
A machine learning algorithm to identify persons at risk of Gaucher disease using EHR in the United States
Gaucher disease is a rare inherited lysosomal storage disorder (LSD) which mainly leads to hepatosplenomegaly, anemia, thrombocytopenia, bone lesions/symptoms, and neurological impairment. Its progressive clinical manifestations are often highly debilitating, shorten lifespans and are considerably variable.
A promising algorithm for early diagnosis and intervention opportunities in Rare Diseases
A promising algorithm for early diagnosis of Acid Sphingomyelinase Deficiency (ASMD) in patients with unexplained Interstitial Lung Disease (ILD). Leveraging Electronic Health Records (EHR) and machine learning, a ASMD diagnostic algorithm, was developed achieving remarkable results. Indeed, it distinguished ASMD patients from a general population with a sensitivity of 80% and a specificity of over […]
