Use Cases: sickle-cell disease and acute myeloid leukemia

SCD and AML are the two RHDs that SYNTHEMA is focusing on.

SCD is a genetic disorder of the haemoglobin protein, which carries oxygen in red blood cells. In SCD, the haemoglobin protein is abnormal, causing red blood cells to form a crescent or sickle shape. These sickle cells can block small blood vessels, leading to tissue and organ damage, and painful episodes called crises. SCD is a lifelong condition that affects millions of people worldwide, with the highest prevalence in Africa, the Middle East, and parts of the Mediterranean.

AML, on the other hand, is a type of blood cancer that begins in the bone marrow, where blood cells are produced. In AML, the bone marrow produces abnormal white blood cells that do not function properly, leading to anemia, infections and bleeding. AML is a rare disease, with approximately 3-5 cases per 100,000 people worldwide. The incidence of AML increases with age, and the average age of diagnosis is 67 years old.

BothSCD and AML pose significant health challenges, and current treatment options are limited. SYNTHEMA aims to contribute to address this clinical open issues by data augmentation in RHDs. In other words, it will generate synthetic data that will comprehensively represent the variety of SCD and AML clinical phenotypes, and could be used to address open clinical questions on diagnosis, patient stratification, disease progressiona and prediction of disease complications through the use of precision medicine AI-based, data-driven methodologies..

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