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Genetic breakthrough offers hope for children with rare brain disease

22 June 2025

Genetic breakthrough offers hope for children with rare brain disease

22 June 2025

Originally published by RNZ on 22 June 2025

Cure Kids is proud to have co-funded research that has led to the discovery of a genetic marker linked to a rare and devastating childhood brain disorder, microcephaly.

Led by Dr Louise Bicknell at the University of Otago, this research has identified mutations in the CRNKL1 gene that cause a condition affecting brain development, leading to severe developmental delays and seizures in tamariki. 

This groundbreaking work provides families with much-needed answers and is a step towards earlier diagnosis. Thank you to our generous donors for helping make this world-first discovery possible.

Read the full article on RNZ's website.