Genomic Imaging Version 1
Research type
Research Study
Full title
Genomic Imaging in Neonatal Encephalopathy (GENIE) study
IRAS ID
233406
Contact name
Sudhin Thayyil
Contact email
Sponsor organisation
Imperial College London
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
Despite cooling therapy, half of the babies with neonatal encephalopathy still have adverse outcomes. Rapid identification of the babies who will not respond to cooling therapy, and understanding why they do not, is fundamental for the development of future personalised neuroprotective therapies. In this work, we will examine the feasibility of three different methods (host gene expression profile, epigenetics, and copy number variants) for classifying (disease stratification) babies with neonatal encephalopathy. \n\nAIMS\t\n1.\tTo compare the activity of specific genes in blood (host gene expression) at birth with brain injury on magnetic resonance imaging and neurodisability at 2 years in babies with neonatal encephalopathy\n2.\tTo examine the relation of epigenetic changes and neurodisability after neonatal encephalopathy\n3.\tTo examine the association of copy number variants and neurodisability after neonatal encephalopathy\n\nMETHODS\nA total of 300 term encephalopathic babies will be recruited from participating NHS hospitals over a 3 year period. Small amount of blood will be collected soon after birth and will be send to Imperial College London for genomic analysis. All babies will have magnetic resonance imaging during neonatal period and detailed neurodevelopmental assessment between 18 to 24 months, as a part of routine clinical care. Next generation sequencing and bioinformatic analysis will be used to identify a minimal set of activated or deactivated genes (gene signature) that are associated with brain injury patterns and long-term disability. \n\nBENEFITS\nOur goal is to develop a point of care test for disease stratification in neonatal encephalopathy. If successful, this will lead to a paradigm shift in the way we identify and treat babies with perinatal asphyxia, and will open up a new avenue for developing individualised neuroprotective therapies.\n
REC name
South West - Cornwall & Plymouth Research Ethics Committee
REC reference
17/SW/0212
Date of REC Opinion
29 Sep 2017
REC opinion
Further Information Favourable Opinion