Gene of the Month

Gene of the Month – March: SYK

Mutations in the SYK gene are responsible for a newly described phenotype with severe immunodeficiency, multi-organ inflammatory disease involving the intestines, liver, skin, joints and central [...]

Gene of the Month – February: EN1

Dysregulated expression of the gene EN1, or engrailed-1, due to a remarkable genetic mechanism, leads to a rare congenital disorder with severe limb malformations. This is reported in Nature by [...]

Gene of the Month – July: MAPK1

De novo variants of the MAPK1 gene have been identified as underlying a novel neurodevelopmental disorder within the clinical spectrum of rasopathies. This family of genetic disorders includes [...]

Gene of the Month – June: GP2

GP2 gene variants may be associated with an increased risk for pancreatic cancer. This is suggested by the results of a meta-analysis of three genome-wide association studies published in Nature [...]

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