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.