Bringing Awareness to BRAT1-Related Disorders

 A BRAT1-related disorder is a rare, autosomal recessive genetic condition caused by changes in both copies of the BRAT1 gene (BRCA1-associated protein required for ATM activation-1). 

 The BRAT1 protein plays a critical role in DNA repair, RNA metabolism, and brain development. Depending on the specific genetic mutations, BRAT1-related disorders manifest as a spectrum of severity—ranging from a severe, lethal neonatal syndrome to milder, non-lethal neurodevelopmental conditions.