Forschungs- & Entwicklungsinformationsdienst der Gemeinschaft - CORDIS

Periodic Report Summary 1 - GACPD (Next Generation Sequencing to Identify Genes Underlying Extreme Psychiatric Illness and Extraordinary Cognition)

The goal of this research is to use next generation sequencing (NGS) to identify genes that have pronounced, early-onset effects on specific cognitive and psychiatric processes by sequencing children with exceptional cognitive abilities or exceptionally early onset psychotic illness. Mental disorders present an enormous societal burden, largely because of our inability to effectively treat them. An improved understanding of their genetic basis could lead to the identification of novel drug targets and improved treatments. My program of work seeks to identify genes underlying both pathological and non-pathological traits that: (i) represent the extreme of a particular neurocognitive domain, and (ii) onset very early in childhood before any known environmental contributors would be expected to have much impact. The underlying hypothesis is that in some cases these traits are caused by a single genetic variant that can be identified by comparing the genomic sequence of the affected and unaffected family members. During this first reporting period, I have focused my research on childhood onset psychosis. The challenge of this project is in identifying and recruiting the subjects, as, by definition, they are phenotypically exceptional. Significant progress has been made to date in gaining ethical and NHS research approval to recruit patients with childhood onset psychosis and in identifying and recruiting these patients and their families. We have publicised the study through presentations at research meetings and psychiatry conferences and in newsletters that are distributed by the Royal College of Psychiatry and the Child and Adolescent Psychiatry Surveillance System (CAPSS). We have opened twelve sites across the UK, and several other sites are currently going through the process of opening. We gained final approval to start recruiting at the end of 2015 and recruited the first 8 families during the first half of this year. The DNA from these patients and their relatives has been extracted and qualitatively and quantitively assessed, and is currently being exome sequenced. The questionnaire and cognitive data is currently being analysed. By March 2018, we expect to have recruited 35 patients with childhood onset psychosis and their families and performed genetic analysis on at least 25. We will have reported back any probably causal variants to the families and these will have been written and published as Case Reports. Through international conferences and biomedical journals, we will have reported, or be in the process of reporting, the percentage of patients in this dataset that have genetic variants (copy number or sequence) that can be identified as causal, and we will discuss the implications for the use of genetic diagnostics in Psychiatry. We have also begun recruiting individuals with severe treatment resistant psychotic and personality disorders from Broadmoor hospital. The approvals process was completed in the second quarter of 2016 and we recruited five patients in August. We are currently beginning an investigation of their family and psychiatric history to identify those most likely to be carrying rare, highly penetrant genetic variants that underlie their illness.

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United Kingdom


Life Sciences
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