Neuro-GD study: Comparing genetic developmental conditions

Published Feb 2024

The aim of this study is to understand how similar fragile X syndrome and SYNGAP1 related intellectual disabilities are.


Conducting clinical trials is essential to identify new therapies. Even though we can conduct clinical trials for several single gene neurodevelopmental disorders (disorders linked to changes in only one gene), one major issue is that each condition is relatively rare. This means that the development of therapies, treatments, or specific support for each disorder is unlikely. Yet, taken together these single gene neurodevelopmental conditions are not rare. If we could create groups of single gene disorders that are likely to respond to the same drug, developping new treatments and therapies would become more feasible, and more robust trials could be conducted.


Why are we doing this study?

This project focuses on two single gene neurodevelopmental disorders: Fragile X syndrome (caused by mutations in the FMR1 gene) and SYNGAP1-related intellectual disability (caused by mutations in the SYNGAP1 gene). We want to describe how genetic changes shape people with neurodevelopmental conditions, especially regarding their clinical, behavioural, cognitive, and neurological characteristics. Our hope is that this will: 

1) help us better understand people with neurodevelopmental conditions and genetic changes 

2) improve our chances of developing new therapies

3) make it easier to do clinical trials to test new therapies


What have we done?

We have been measured the clinical profiles and mental abilities of a large group of people with fragile x syndrome or SYNGAP1 related intellectual disability (ID), aged 3 to 65.  We have used clinical measures, cognitive tests (including eye tracking) and EEG. 


What is happening at the moment?

We are currently analysing and publishing the the results of this study.  As papers are published we will highlight them below:

Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description.

Wright D, Kenny A, Eley S, McKechanie AG, Stanfield AC. J Neurodev Disord. 2022 Jun 2;14(1):34. doi: 10.1186/s11689-022-09437-x.

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