CORDIS Project
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This project investigates Congenital Adrenal Hyperplasia caused by mutations in the CYP21A2 gene using zebrafish models. It aims to understand how different mutations affect steroid hormone production and systemic health, potentially leading to personalized treatment strategies for affected individuals.
Congenital Adrenal Hyperplasia (CAH) ranks amongst the most common inherited metabolic diseases.
It represents a group of autosomal recessive disorders caused by mutations in genes encoding for steroidogenic enzymes.
Steroid 21-hydroxylase (CYP21A2) deficiency (21OHD) caused by mutations in CYP21A2 is the most common form of CAH.
The severity of the clinical phenotype correlates with residual CYP21A2 activity.
About 500,000 individuals within the EU suffer from CAH leading to a significant healt…
THE UNIVERSITY OF BIRMINGHAM
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