Genetics and Genomics
This project aims to identify and characterise novel disease genes underlying rare monogenic neurodevelopmental disorders, particularly focusing on those present in populations currently underrepresented communities in genomic research studies internationally.
By applying cutting-edge genomic sequencing and bioinformatic approaches to family samples from underserved populations (particularly Amish, Palestinian, Pakistani, Omani and Egyptian communities).
Further families in the UK and globally with the candidate new genetic diseases discovered will be identified through analysis of UK and global resources (100,000 Genomes, All-of-Us, GeneMatcher) and existing global collaborations to better characterise the genetic and clinical spectrum of disease. Alongside this, cell-molecular studies will be undertaken to provide important information regarding the pathomolecular basis of disease.
Clinical-genomic studies are currently underway to investigate the genetic basis of a range of neurodevelopmental diseases present in these populations. As well as providing diagnoses for some families, these studies have also identified two candidate new monogenic neurological diseases. For both conditions new families have recently been identified internationally. The next stage of studies will consolidate the genetic basis and clinical spectrum of both diseases, while cell-molecular studies are planned to undertake pathomolecular investigations.
NIHR Exeter BRC.
Dr Lettie Rawlins (project Lead), Prof Emma Baple & Prof Andrew Crosby.
We use cookies to give you the best experience of our website. By browsing you agree to our use of cookies.