RNA sequencing as diagnostic tool for unresolved and severe forms of drug-resistant epilepsies - Developmental and Epileptic Encephalopathies (DEE)

Professor Chung, Brian Hon Yin   (Principal Investigator (PI))

Professor Chan Hoi Shan Sophelia   (Co-principal investigator)

Professor Chung Brian Hon Yin   (Co-principal investigator)

Dr Fung Cheuk Wing   (Co-principal investigator)

Professor Chan Godfrey Chi Fung   (Co-principal investigator)

Wong Suet Na Sheila   (Co-Investigator)

Dr Mak Christopher Chun Yu   (Co-principal investigator)

Dr Ho Chi Chung, Alvin   (Co-principal investigator)

24

2023-08-01

495720

RNA sequencing as diagnostic tool for unresolved and severe forms of drug-resistant epilepsies - Developmental and Epileptic Encephalopathies (DEE)

Epilepsy, Developmental and epileptic encephalopathies, DEE, RNA sequencing, RNA-seq

Others - Medicine, Dentistry and Health

Biology and Medicine (M)

10212106

Health and Medical Research Fund 2021

2022

On-going

Study instruments and interventions and main outcome measures: Both blood and skin fibroblasts will be collected from 20 DEE patients for RNA-seq. A computational pipeline will be used to detect significant aberrant expression, aberrant splicing and/ or mono-allelic expression in each patient’s data comparing with control cohort. A handful of aberrant outlier genes will be identified and causative variants in these genes will be searched from the available WES data. WGS will be performed where necessary to identify deep intronic variants, copy number variations or structural variants.