Awarded Grants
Awarded Grants
Deciphering the causes of mitochondrial network disruption in WDR45-defective cells and their contribution to the BPAN pathology
Fulvio Reggiori
University Medical Center Groningen (UMCG)
$71,471
Awardee: Fulvio Reggiori
Institution: University Medical Center Groningen (UMCG)
Award Amount: $71,471
Funding Period: February 1, 2021 - January 31, 2022
Summary:
Four researchers (Mario Mauthe, Fulvio Reggiori, Muriel Mari and Lara Barazzuol) at the University Medical Center Groningen obtained a grant from the 2020 Million Dollar Bike Ride Grant Program. The project is entitled “Deciphering the causes of mitochondrial network disruption in WDR45-defective cells and their contribution to the BPAN pathology”.
ß-propeller protein-associated neurodegeneration (BPAN) is a rare condition belonging to a group of neurological disorders collectively known as neurodegeneration with brain iron accumulation (NBIA). BPAN is caused by mutations in the WDR45 gene. While WDR45 appears to be involved in autophagy, the precise molecular function and contribution of this protein to this pathway remains unclear. Thus, although the genetic cause of the disease is known, the cellular alterations leading to the clinical manifestations in patients are still unknown.
This project aims at deciphering the underlying pathological causes of BPAN pathophysiology that are connected to autophagy but also investigating autophagy-independent causes, in particular a defect in the mitochondria network organization that we and others, have observed. This project will benefit of an ongoing collaboration between the awarded groups, Prof. Marina De Koning-Tijssen and the Dutch NBIA foundation (Stichting IJzersterk).
Development of novel human stem cell models of Beta-Propeller Protein- Associated Neurodegeneration (BPAN) for disease modelling and drug screening
Paul Lockhart
Murdoch Children's Research Institute
$61,245
Awardee: Paul Lockhart
Institution: Murdoch Children's Research Institute
Award Amount: $61,245
The use of a patient-centric neuronal cell model of Beta-Propeller Protein-Associated Neurodegeneration (BPAN) as a platform to develop novel therapies
Robin Ketteler
UCL MRC Laboratory for Molecular Cell Biology
$51,020
Awardee: Robin Ketteler
Institution: UCL MRC Laboratory for Molecular Cell Biology
Award Amount: $51,020
Funding Period: February 1, 2019 - January 31, 2020
Mechanistic study of WDR45/45B and their binding partner ATG2 in the autophagy pathway of neural cells
Hong Zhang
University of Massachusetts Medical School
$51,020
Awardee: Hong Zhang
Institution: University of Massachusetts Medical School
Award Amount: $51,020
Funding Period: February 1, 2019 - January 31, 2020
A natural history study of beta-propeller protein-associated neurodegeneration (BPAN)
Hong Zhang
University of Massachusetts Medical School
$50,507
Awardee: Penelope Hogarth
Institution: Oregon Health & Science University
Award Amount: $50,507
Funding Period: January 1, 2018 - December 31, 2018
Mechanistic study of WDR45 in the autophagy pathway and neurodegeneration
Hong Zhang
University of Massachusetts Medical School
$50,507
Awardee: Hong Zhang
Institution: University of Massachusetts Medical School
Award Amount: $50,507
Funding Period: January 1, 2018 - December 31, 2018