Synthema

Haematological diseases

at the forefront of rare disease research

Haematological diseases

Haematological diseases are generally divided into oncological (haematological malignancies, i.e., lymphomas, myelomas, leukaemias) and non-oncological HDs (i.e., hemoglobinopathies, haemolytic anaemias, coagulopathies). Even though over 74% of them are considered rare, the overall number of HD affected patients worldwide is significant: in 2020 alone, haematological malignancies accounted for about 5% of total cancer cases worldwide.

Our objective

Our use cases

The project will focus on two representative RHD use cases: Sickle Cell disease (SCD) for non-oncological HDs, and Acute Myeloid Leukaemia (AML) for oncological HDs.

Acute Myeloid Leukaemia

Sickle Cell Disease

Acute Myeloid Leukaemia

The disease

Acute Myeloid Leukemia (AML) is a type of blood cancer that starts from young white blood cells in the bone marrow. The bone
marrow is the soft inner part of the bones, where new blood cells are made.

The bone marrow produces white blood cells called granulocytes or monocytes too quickly because they grow and divide too fast. These abnormal cells build up in the blood and bone marrow and can eventually spread to other parts of the body including the lymph nodes and the spleen.

It is the most common type of acute leukemia in adults. AML can get worse quickly if it is not treated, however, treatments work very well for most people.

Validation

For AML, validation scenarios will assess performance of synthetic data in determining overall survival and treatment response prediction based on clinical-genomic profiles.

Cohort

The AML use case will include 2,500+ patients with “de novo” AML (2016 World Health Organisation/WHO classification criteria).

Sickle Cell Disease

The disease

Sickle Cell Disease (SCD) is a group of hereditary red blood cell disorders. It is a rare, chronic and life-threatening disease. In patients with SCD, red blood cells become C-shaped in resemblance to a sickle, the farming tool the disease is named after.

Sickle cells die early and tend to clog the blood flow when going through small blood vessels, so patients usually suffer from low red blood cell counts, infections, acute chest syndrome and strokes.

Treatment for sickle cell disease is limited. However, following improvements in preventative treatment, many complications as-
sociated with sickle cell disease can be avoided or delayed.

Validation

For SCD, validation scenarios will test the reliability of synthetic data in regards to genomic variants/disease phenotypes association and MRI feature-based prediction of brain vascular events (SCD).

Cohort

The SCD use case will include 1,000+ patients with genetic diagnosis for SCD disorder, including paediatric (1+ year-olds) and adult patients (exclusion criteria: transplanted patients, 1 year-old or younger).