DeCODED study

• Research type

  Research Study

• Full title

  Determining the causative genetic variants in individuals with only a clinical diagnosis of genetic disease

• IRAS ID

  309668

• Contact name

  Jan Cobben

• Contact email

  jan.cobben@nhs.net

• Sponsor organisation

  Imperial College

• Duration of Study in the UK

  5 years, 0 months, 1 days

• Research summary

  This research study aims to identify the underlying genetic cause of conditions in individuals where there is a high suspicion of genetic defects in one or two specific disease genes, but in whom prior DNA analysis has been unsuccessful in identifying the gene abnormalities (DNA variants) in both copies (alleles) of the gene. The research will address individuals in whom DNA analysis has identified only a single (likely) pathogenic genetic variant or variant of unknown significance (VUS), in addition to those patients with a certain clinical diagnosis of a specific condition for which only one causative gene is known, and no DNA variant in that gene was identified at all. These variants will mainly include those located in non-coding regions of the genome.
  Background: Through the 100,000 genomes project, whole genome sequencing (WGS) has been delivered in the UK. However, in a considerable number of individuals with clinical features of specific conditions, the underlying genetic cause remains unidentified. This project will support these individuals (both adults and children) by carrying out additional genomic studies to establish the causative genetic variants which in turn may aid gene discovery, design of new therapies, and provision of improved clinical management plans. Developing diagnostic pipelines to identify the genetic cause in these patients will aim to reduce the diagnostic journey in individuals with similar causative variants (that are difficult to identify with laboratory methods used routinely). Facilitating diagnosis earlier in life often expands treatment options, creating reproductive options for parents and family members and, by allowing for cause-related clinical management, increasing quality of life for individuals and their families with rare conditions or DNA variants.

• REC name

  North East - Newcastle & North Tyneside 2 Research Ethics Committee

• REC reference

  23/NE/0077

• Date of REC Opinion

  5 Jun 2023

• REC opinion

  Further Information Favourable Opinion