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Updates on funding, publications, genes, and events

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RDMM Newsletter   |   Autumn 2020

Solve-RD Seeding Grants Awarded to Scientists Identified via RDMM

The group of Antonio Vitobello (University Hospital Dijon-Bourgogne) was awarded a grant to study identified novel gene variants in two unrelated patients with polymalformative syndrome. Both patients presented with developmental delay and multiple malformations and exome sequencing, and carry the same rare missense variant in a gene that has not been associated with human disease thus far.
 
To answer its causative implication in the disease, the Solve-RD RDMM-Europe Seeding grant will allow the generation of a Drosophila melanogaster model by Howard Lipshitz and his group (Department of Molecular Genetics, University of Toronto). The applicant has extensive experience and a proven track record in the functional validation of human genes in Drosophila.
 
The second grant was awarded to Siddharth Banka’s group (Manchester Centre for Genomic Medicine), which identified novel missense gene variants in several unrelated patients with neurodevelopmental disorders. The patients presented moderate to severe intellectual disability, developmental delay, behavioural problems and, in addition, occasional congenital malformations.
 
Exome sequencing revealed that all patients carry rare missense variants in a novel candidate gene. The Solve-RD RDMM-Europe Seeding grant will allow the generation of a Zebrafish model by Gaurav K. Varshney and his group at the Oklahoma Medical Research Foundation. The applicant has extensive experience with clinical collaborations, and his primary focus is the use of zebrafish and gene editing technologies to study human disease models.


Please Share—Successful Matches Awarded Catalyst Grants!

RDMM is recruiting additional Canadian model organism investigators to register and indicate their gene/pathway/cellular system areas of interest and expertise, so we have the possibility to match them with clinician scientists discovering new disease genes.

Clinician scientists associated with a Canadian institution are asked to submit newly discovered disease genes to RDMM, so we can attempt to match them with a model organism investigator for collaborative functional studies.
 
Successful matches are awarded RDMM Catalyst Grants!

 

New Publications
 

Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant Zebrafish
 
Journal: Cells
Awardees: Ian M. MacDonald and W. Ted Allison

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