Leonor Lima

Nov 5, 2024 | biorxiv.org | Liliana Almeida |Leonor Lima |Bruno Sousa |José Bessa

AbstractDevelopmental diseases are challenging to investigate due to their clinical heterogeneity and relatively low prevalence. The Wolcott-Rallison Syndrome (WRS) is a rare developmental disease characterized by skeletal dysplasia and permanent neonatal diabetes due to loss-of-function mutations in the endoplasmic reticulum stress kinase PERK (EIF2AK3).

Apr 20, 2024 | biorxiv.org | Liliana Almeida |Leonor Lima |Bruno Sousa |José Bessa

AbstractWolcott-Rallison Syndrome (WRS) is the most common cause of permanent neonatal diabetes mellitus among consanguineous families. The diabetes associated with WRS is non- autoimmune, insulin-requiring and associated with skeletal dysplasia and growth retardation. The therapeutic options for WRS patients rely on permanent insulin pumping or on invasive transplants of liver and pancreas.