Myeloproliferative neoplasms (MPNs) are a group of hematological malignancies characterized by the overproduction of red blood cells, platelets, or certain white blood cells. These disorders
Hypercholesterolemia presents a high and preventable risk for premature adverse cardiovascular events. Although genetics is among its commonest causes, Familial Hypercholesterolemia (FH), which involves pathogenic
Q – Stefano: How did you like your internship at 4bases? A – Jamila: I really, really loved it. I was initially a bit worried
Thalassemia is an inherited blood disorder, which main consequence is a reduced production of hemoglobin leading to mild to severe anemia. Since the diagnosis of
Manno, Switzerland, and Vienna, Austria DATE 25.02.2025 4bases SA, a Swiss company specializing in NGS reagent kits and bioinformatics tools, and regulatory automation provider Platomics
We often think of Next-generation sequencing (NGS) as a powerful technology that can analyse millions of DNA variants simultaneously, making it widely used for genetic
Hereditary cardiomyopathies (CMPs) are diseases related to impaired structure and function of the heart muscles and cavities, which greatly contribute to cardiovascular mortality. These conditions
Rare diseases collectively affect 3.5–5.9% of the global population, thus emphasising their public health significance. Diagnosing rare diseases in adults remains more challenging than in
CHEK2 is a tumour-suppressing gene which encodes for the CHK2 protein, a serine/threonine kinase which plays a major role in several cell signalling pathways, such as
Breast cancer (BC) is the most frequent type of cancer in women, with approximately 2.2 million new cases diagnosed each year, making it the fourth
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