A study published on September 5, 2024, in Frontiers in Behavioral Neuroscience by researchers Deirdre Mc Carthy, Yuan Wang, Cynthia Vied, and IPRD Director Pradeep Bhide reveals novel insights into the pathophysiology of pediatric rare disease Fragile X Syndrome (FXS), a major cause of inherited intellectual disability.

FXS affects 1 in 4,000 males and 1 in 8,000 females, caused by a mutation in the FMR1 gene. It often co-occurs with autism and ADHD. Previously, research focused on social interaction, communication, attention, and hyperactivity. This new study uncovers a more complex disease mechanism, linking molecular changes to motivation, reward, and substance use.

Using advanced tech like behavioral neuroscience, neurotransmitter analysis, and RNA sequencing, the team’s findings open new doors for FXS research and may lead to innovative treatments.