Understanding the selective vulnerability of human neurons to PHOX2B polyalanine repeat expansion mutations associated with the congenital central hypoventilation syndrome and Hirschsprung disease
Grant Data
Project Title
Understanding the selective vulnerability of human neurons to PHOX2B polyalanine repeat expansion mutations associated with the congenital central hypoventilation syndrome and Hirschsprung disease
Principal Investigator
Professor Ngan, Elly Sau Wai
(Principal Investigator (PI))
Co-Investigator(s)
Dr Lai Pui Ling
(Co-Investigator)
Duration
36
Start Date
2020-07-19
Amount
1500000
Conference Title
Understanding the selective vulnerability of human neurons to PHOX2B polyalanine repeat expansion mutations associated with the congenital central hypoventilation syndrome and Hirschsprung disease
Presentation Title
Keywords
Congenital central hypoventilation syndrome, enteric nervous system, hindbrain, Hirschsprung disease, human pluripotent stem cells
Discipline
Others - Medicine, Dentistry and Health
HKU Project Code
07181926
Grant Type
Health and Medical Research Fund - Full Grant
Funding Year
2019
Status
On-going
Objectives
ongenital central hypoventilation syndrome (CCHS) is attributed to the malformation of the hindbrain neurons responsible for the autonomic control of breathing. It is highly related to polyalanine repeat expansion mutations (PARMs) in PHOX2B gene and number of polyalanine repeats is directly associated with disease severity and the risk to Hirschsprung (HSCR) disease (loss of enteric neurons). Objectives: We aim to identify the molecular determinants underlying the selective vulnerability of hindbrain and enteric neurons to PHOX2B PARMs.