Project: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy

Acronym	NG4Leuko (Reference Number: EJPRD19-201)
Project Topic	Genetic brain white matter disorders, also called leukodystrophies, lead to considerable clinical handicap, ranging from mild to severe. Patients are most often children and die early in life. As yet, the majority of leukodystrophies lack an effective treatment. While all leukodystrophy share major pathological traits (i.e. white matter disruption), our understanding of the cascade of events leading from the genetic defect to this detrimental outcome is still poor. Recent evidences suggest that besides white matter and myelin, also the nerve cells (neurons, also called grey matter) and their processes (axons) are damaged from early disease stages on. In our project, we want to explore this grey matter involvement in different types of leukodystrophies with an innovative approach. We want to study co-cultures of both grey and white matter cells derived from patient cells to know how they influence each other, and whether different patients present with common defects. In the future, this might be a good approach to study for drug screening for leukodystrophies. To reach this goal, the project will combine the expertise of (i) recognized European research teams working in the field of white matter diseases and (ii) leukodystrophy patients and families associations devoted to leukodystrophies.
Network	EJP RD
Call	1st EJP RD Joint Transnational Call for Rare Diseases Research Project (JTC 2019)

Number	Name	Role	Country
1	VU University Medical Center	Coordinator	Netherlands
2	Ospedale San Raffaele	Partner	Italy
3	Universitätsklinikum Bonn	Partner	Germany
4	INSERM	Partner	France
5	University of Porto	Partner	Portugal