Tag: Seeding Grant

RDMM-Europe project published!

RDMM-Europe project published!

Solve-RD partners and Henry Houlden at the UCL Queen Square Institute of Neurology identified novel missense variants in the gene ACBD6 in a large cohort of unrelated patients with complex dystonia parkinsonism ataxia phenotype. The patients presented moderate-to-severe delay in psychomotor development predominantly affecting the acquisition of walking skills, speech, intellectual functioning (global developmental delay, moderate to severe intellectual disability, severe speech disorder, diverse behavioural abnormalities), variable dysmorphisms and seizures. The RDMM-Europe committees suggested to connect the group with Gaurav K. Varshney at the Oklahoma Medical Research Foundation and Solve-RD provided Seeding Grant funding to support the validation of the gen disease association using zebrafish as a model.

The collaborative work was now accepted for publication in Brain.

Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin [...] Reza Maroofian. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain (2023) https://doi.org/10.1093/brain/awad380

RDMM-Europe project published!

RDMM-Europe project published!

Stefan Barakat and Tjakko van Ham at Erasmus University Medical Center in Rotterdam have received a Seeding Grant via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) program in May 2022. The funding supported their work to confirm pathogenicity of AMFR dysfunction causing autosomal recessive spastic paraplegia (HSP) by using zebrafish models. AMFR was proposed for functional validation within the RDMM programme by Solve-RD partners Reza Maroofian and Henry Houlden at the UCL Queen Square Institute of Neurology. They have initially identified a homozygous frameshift mutation of AMFR within a shared RoH region in two affected siblings suffering from Hereditary Spastic Paraplegia (HSP). By international collaborations and data sharing similar biallelic loss of function mutations of the same gene were found in a total of 20 affected individuals from 8 consanguineous families.

The collaborative work was now accepted for publication in Acta Neuropathologica.

Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk et al. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta Neuropathol (2023). https://doi.org/10.1007/s00401-023-02579-9

RDMM-Europe project published!

RDMM-Europe project published!

Solve-RD partners Antonio Vitobello from the University Hospital Dijon-Bourgogne and Elke Bogaert & Bart Dermaut from Ghent University in Belgium were connected by our European Rare Disease Models & Mechanisms Network (RDMM-Europe) initiative. They received Seeding Grant funding to generate Drosophila models that support the validation of new SRSF1 variants identified in a cohort of patients with syndromic developmental disorder associated with intellectual disability. Their findings have now been accepted for publication in The American Journal of Human Genetics.

Elke Bogaert, Aurore Garde, Thierry Gautier et al. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. The American Journal of Human Genetics (2023). https://doi.org/10.1016/j.ajhg.2023.03.016

Seeding Grant project received follow-up funding

Seeding Grant project received follow-up funding

Solve-RD Seeding Grant recipient Michela Ori successfully received competitive grant from the Telethon Foundation (Italy)

Michela Ori and her group at the Department of Biology, University of Pisa, Italy have received Seeding Grant funding via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) program in August 2020.

Based on preliminary data obtained with the Solve-RD Seeding Grant, Michela's lab has successfully applied for a competitive grant from the Italian Telethon Foundation. The project with the title "Modeling Pitt-Hopkins syndrome and new pathogenetic variants of TCF4 by gene editing: a step forward toward personalized medicine (acronim: HOPeFOR)" started in March 2023.

Solve-RD partner Antonio Vitobello from CHU Dijon who initially identified those novel gene variants in patients with facial dysmorphism and who was matched to Michela Ori's group via RDMM-Europe will be a collaborator in this project.

More info (in Italian) here.

 

First RDMM Seeding Grant project received follow-up funding

First Seeding Grant project received follow-up funding

Solve-RD Seeding Grant recipient Alessandro Sessa successfully obtained a competitive grant from the Telethon/CARIPLO alliance in Italy.

Alessandro Sessa and his group at the IRCCS Ospedale San Raffaele, Milano, Italy have received Seeding Grant funding in April 2021 to validate rare missense variants identified by Siddharth Banka at the Manchester Centre for Genomic Medicine, UK. Based on preliminary data generated with the Solve-RD funding Alessandro Sessa successfully applied for a competitive grant from the Telethon/CARIPLO alliance (Italy) to continue the analysis (250.000€/2 years). The call (the first of its kind) was in support of basic research projects focusing on the study of genes/gene families, proteins, and RNA molecules whose function is unknown in rare diseases of genetic and non-genetic origin.