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Title

Exploring the genetic basis of healthy development and ageing: gene discovery and methods development

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Lay summary

Our lab has a focus on a number of disorders related to the nervous system and eye health. All of these disorders are major drivers of global public health and are key causes of disability and disadvantage in people of all ages. In children, these include neurodevelopmental disorders such epilepsy, stuttering and autism, which can result in difficulties with language and speech, motor skills, behaviour, and other neurological functions. Whilst in adults, we investigate disorders affecting the immune system and neurodegenerative conditions such as ataxias and dementia, which are leading causes of disability and death. 

By using  the Genomics England data, over three years, we intend to develop and utilise novel methods to discover genes and loci relevant to these disorders of development and ageing. Identification of new disorder-related genes could lead to  improved prediction of disorder risk and progression, allow for more targeted treatment and identification of drug targets.  

Specific Aims: 

1.	Use Genomics England as a resource for replication and exploration of findings from ongoing genome-wide association studies of neurological and retinal traits. 

2.	Use Genomics England for the development of novel methods. Examples include exploring methods for detecting expanded short tandem repeats, leveraging evolutionary information for examining disorders affecting communication and cognitive development, and brain gene co-expression approaches.  

3.	Utilise these novel methods for further disorder-gene discovery. 

 

A better understanding of the genetics underlying these disorders is key for reducing the burden of disorder and improving health throughout the life course.

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