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Research Fellows Directory

Silvia Paracchini

Dr Silvia Paracchini DPhil

Research Fellow

Organisation

University of St Andrews

Research summary

Some 10% children in the UK experience exceptional and unexpected difficulties

in learning to read; this is known as dyslexia. While it is quite evident that dyslexia

can have an impact on academic and professional careers, it is less obvious that

dyslexia does also have an impact on social interaction and emotional life.

Dyslexia is a heterogeneous condition and the underlying biology remains poorly

understood preventing early diagnosis and tailored intervention schemes. Genetic

studies have recently initiated new lines of investigations by identifying some risk

factors. Follow up molecular investigations aimed at elucidating the role of genes

in the brain promise to contribute significantly to our understanding of dyslexia. A

very intriguing association is our recent finding of a strong association between

the PCSK6 gene and handedness specifically in people with dyslexia. PCSK6

controls left/right axis determination early in development. Handedness can be

considered a reflection of cerebral asymmetries, and alteration in brain

asymmetries have been linked to dyslexia. Understanding the basis of this genetic

association will contribute to understand the biology of dyslexia and

neurodevelopment.

Despite these advances, the genes identified so far explain only a small fraction of

dyslexia biology. The last few years have been dominated by the expansion of

genomic technologies and the success of gene mapping for many complex

disorders (e.g. diabetes, obesity and Alzheimer’s) which, like dyslexia, are caused

by multiple genetic and environmental factors. The relative lack of success of

dyslexia studies can be implicated to the relatively small sample sizes utilized in

genetic analysis.

This proposal tackles exactly the single most important limitation in dyslexia

research; establishing a large DNA collection is vital to map genetic risk factors

and understand dyslexia biology.

Interests and expertise (Subject groups)

Grants awarded

INVESTIGATION OF A COMPLEX LINK BETWEEN HANDEDNESS AND NEURODEVELOPMENT

Scheme: University Research Fellowship

Dates: Oct 2016 - Sep 2019

Value: £324,015.37

A genetic and functional genomic study of neurodevelopmental disorders

Scheme: University Research Fellowship

Dates: Oct 2011 - Sep 2016

Value: £532,517.09

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