B4595 - The role of rare genetic variants in dyslexia - 23/04/2024

B number: 
Principal applicant name: 
Silvia Paracchini | University of St Andrews (United Kingdom)
Title of project: 
The role of rare genetic variants in dyslexia
Proposal summary: 

It's estimated that approximately one in ten children struggle with learning to read, a condition known as dyslexia. Dyslexia can have lasting effects on many aspects of life, including academic achievement, job opportunities, self-esteem, social interactions, and overall life satisfaction. These challenges are particularly significant when dyslexia goes undiagnosed, depriving individuals of much-needed support. Undetected dyslexia also contributes to societal costs, such as employment difficulties and mental health issues. Despite these challenges, individuals with dyslexia often possess unique problem-solving skills, yet barriers can limit their contributions to innovation and creativity.

Genetics is the primary known cause of dyslexia. Recently, collaborative research efforts have identified dozens of common genetic risk factors associated with dyslexia for the first time. This discovery underscores the complex nature of dyslexia and parallels findings in other neurodevelopmental disorders. Genetic research for other conditions such as autism, has progressed more rapidly thanks to the availability of large samples. This work has highlighted a crucial role for very rare genetic mutations. We anticipate that such rare variants also play a role in dyslexia. Detecting these rare variants requires genome sequencing technology in large samples.

We're embarking on the largest sequencing project ever conducted for dyslexia, utilizing a unique collection of samples amassed over decades and characterized with high-quality data by multiple research teams with a proven collaborative track record. Our cohort is enriched for severe cases and includes families with multiple affected members.

Our research will deepen our understanding of the genetic risk factors for dyslexia and illuminate the biological pathways involved in dyslexia and brain development. By comparing data with other conditions, we aim to identify genes specifically associated with dyslexia. In the long term, our findings may contribute to the development of early diagnostic strategies. We will share our results with the broader research community, creating a valuable resource for future dyslexia studies and related conditions, such as language disorders, dyscalculia, and attention deficit hyperactivity disorder.

Our project offers a unique opportunity to engage with the public and discuss the neurobiological determinants of dyslexia. The Specific Learning Difficulties Network, an initiative we launched in 2022, will provide a platform to engage with different stakeholders, including individuals with lived experiences of dyslexia, teachers, clinicians, and policymakers. Our findings will provide evidence to explain the role of genetics, reduce stigma around dyslexia, and increase awareness.

Impact of research: 
Demonstrating that individual mutations might lead to dyslexia will be a significant advance in helping us to understand the neurobiology of or reading and cognitive abilities
Date proposal received: 
Wednesday, 17 April, 2024
Date proposal approved: 
Tuesday, 23 April, 2024
Mental health - Psychology, Psychiatry, Cognition, Behaviour - e.g. antisocial behaviour, risk behaviour, etc., Developmental disorders - autism, Cognitive impairment, Learning difficulty, DNA sequencing, Cognition - cognitive function, Communication (including non-verbal), Development, Genetic epidemiology, Genetics, Handedness, Intelligence - memory, Psychology - personality, Sex differences, Speech and language