Significats de monogenic disorder en anglès

Sickle-cell disease is one of the most common severe monogenic disorders in the world.

Recent breakthroughs in exome-sequencing technology have made possible the identification of many causal variants of monogenic disorders.

Currently according to the latest report of the international union of immunological societies, 37 separate monogenic disorders were classified as autoinflammatory.

The inherited disorders of hemoglobin, which include sickle cell disease and thalassemias, are the most common and widespread distributed monogenic disorders.

Inherited monogenic disorders such as beta-hemoglobinopathies (BH) are fitting candidates for treatment via gene therapy by gene transfer or gene editing.

Inborn errors of metabolism are monogenic disorders that can be inherited in autosomal recessive manner or, less frequently, in autosomal dominant or X-linked patterns.

Thus the approach provides a technique for the treatment of monogenic disorders associated with specific point mutations such as SCD (sickle cell disease).

Abstract Lysosomal storage diseases (LSDs) are a group of 40-50 rare monogenic disorders that result in disrupted lysosomal function and subsequent lysosomal pathology.