The EURORDIS-led Community Engagement Task Force (CETF) has created an infographic setting out the patient journey to diagnosis. The infographic demonstrates the diagnostic odyssey many people experience on a daily basis and presents existing resources from CETF member organisations to support patients on this journey. The infographic is available in 16 languages!
You will find more info here.
Solve-RD partner CNAG-CRG is lookig for a PhD student to work on strategies for molecular diagnosis of rare disease patients through integrated analysis of proteomics, metabolomics, genomics and phenomics data. The early-stage researcher (ESR) will be part of the European Innovative Training Network PROTrEIN.
More info can be found here. Application deadline is 31 January 2021!
Solve-RD uses the RD-Connect Genome-Phenome Analysis Platform (GPAP) to analyse exome and genome sequencing data of rare disease patients. GPAP now includes a new module: the RD-Connect GPAP-PhenoStore.
You can access GPAP-PhenoStore via the "Access Phenotypic Data Submission" button on the GPAP Homepage. There you will also find a link to the new GPAP-PhenoStore User Guidelines and a summary video of the new module.
RD-Connect PhenoTips has now been retired. You will access GPAP-PhenoStore with the same credentials you use for the GPAP analysis platform.
The online seminar the GPAP team hold on 26 November is available here.
Solve-RD has been invited as an Outreach Partner of the next EURORDIS Black Pearl Awards! We are very happy about that and gladly accepted the invite.
Photo submissions for the Photo Award 2021 are now open, until 31st January 2021. You can submit your photo and find more information here: www.blackpearl.eurordis.org/photo-award.
The mitochondrial genomics group in Cambridge, UK (Professor Patrick Chinnery and Dr. Rita Horvath, @HorvathLab) is seeking a talented Bioinformatician in computational biology/computer science/bioinformatics to join a team of clinical and laboratory scientists who are studying the role of genetic variation and differences in gene expression in rare inherited neurological diseases, including mitochondrial disorders. The bioinformatician will also work on Solve-RD.
Application deadline: 1 November 2020. For details see here.
The group of Siddharth Banka at the Manchester Centre for Genomic Medicine 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.
For more information on the Solve-RD brokerage service and the Seeding Grants see Rare Diseases Models & Mechanisms – Europe (RDMM-Europe).
23 September 2020, Frankfurt/Main, Germany
Solve-RD partner Laurence Faivre from CHU Dijon and colleagues discovered a novel de novo missense variant in a gene in four individuals affected with a severe neurodevelopmental disorder of unknown cause. The RDMM-Europe Seeding Grant awarded to Ype Elgersma at Erasmus University Medical Center in Rotterdam will allow to assess the pathogenicity of this rare genetic variant. The project involves expression of the mutant form in developing mouse embryos and in primary neuronal cultures and analysis of the resulting phenotypes. Ype has great expertise in functional genomic screenings to assess the pathogenicity of genetic variants identified in individuals with neurological development disorder.
The group of Antonio Vitobello from CHU Dijon identified novel gene variants in patients with facial dysmorphism. Loss-of-function mutations of the respective candidate gene have previously been described as causative in a rare genetic disorder characterized by developmental delay and intellectual disability. The Seeding Grant will allow the generation of Zebrafish and Xenopus mutants by Michela Ori and her group at the Department of Biology, University of Pisa, Italy to model the dysmorphic phenotype. Michela has extensive experience in molecular embrology and has previously used Xenopus and Zebrafish animal models to study craniofacial development.
For more information on the Solve-RD brokerage service and the Seeding Grants see Rare Diseases Models & Mechanisms – Europe (RDMM-Europe).
