Molecular diagnosis of rare genetic diseases: whole genome sequencing and transcriptomics of biliary atresia, Hirschsprung disease and congenital pulmonary airway malformations
Grant Data
Project Title
Molecular diagnosis of rare genetic diseases: whole genome sequencing and transcriptomics of biliary atresia, Hirschsprung disease and congenital pulmonary airway malformations
Principal Investigator
Emeritus Professor Tam, Paul Kwong Hang
(Principal Investigator (PI))
Co-Investigator(s)
Professor Sham Pak Chung
(Co-Investigator)
Professor Wong Kenneth Kak Yuen
(Co-Investigator)
Dr Tang Sze Man
(Co-Investigator)
Dr Lui Chi Hang
(Co-Investigator)
Dr Lee So Lun
(Co-Investigator)
Dr Chung Ho Yu
(Co-Investigator)
Duration
36
Start Date
2021-03-15
Amount
4948380
Conference Title
Molecular diagnosis of rare genetic diseases: whole genome sequencing and transcriptomics of biliary atresia, Hirschsprung disease and congenital pulmonary airway malformations
Presentation Title
Keywords
biliary atresia, congental pulmonary airway malformation, hirschsprung disease, rare diseases, transcriptomics, whole genome sequencing
Discipline
Others - Medicine, Dentistry and Health
HKU Project Code
PR-HKU-1
Grant Type
Commissioned Paediatric Research at Hong Kong Children's Hospital
Funding Year
2020
Status
On-going
Objectives
Biliary Atresia (BA), Hirschsprung Disease (HSCR) and congenital pulmonary airway malformation (CPAM) are rare genetic diseases with inexplicably higher local incidences and thus constitute substantial healthcare and socio0economic budens; importantly disease incidences are highest in Asia.