Open position

Open position: PhD student

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!

PhenoStore video

PhenoStore video

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.

Outreach Partner of the next EURORDIS Black Pearl Awards

Outreach Partner of the next EURORDIS Black Pearl Awards

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.

Job opportunity: Bioinformatician

Job opportunity: Bioinformatician

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.

Next Seeding Grant awarded

Next Seeding Grant awarded!

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).

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.

New publication by Antonio Atalaia et al.: A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
The paper provides a template that includes instructions for writing FAIR-compliant systematic reviews of rare diseases’ treatments that enables the assembly of a Treatabolome database that complement existing diagnostic and management support tools with treatment awareness data.
You can find the full publication here.

Two Solve-RD Seeding Grants awarded

Two Seeding Grants awarded!

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).

Treatabolome workshop at ESHG2020

Treatabolome workshop at ESHG2020

Solve-RD held a Treatabolome workshop at ESHG 2020 with the aim to show interested clinicians and researchers how to participate in this initiative and create a Treatabolome for their own diseases of interest. We are delighted that we are now able to make the presentations available on the Solve-RD website. Please view the presentations and get in touch if you’re interested!

3rd Solve-RD Seeding Grant awarded!

3rd Seeding Grant awarded!

The group of Ana Töpf and Volker Straub at the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University identified new vary rare variants of a gene in patients with severe respiratory failure, dyspnoea and spine rigidity. The RDMM-Europe Seeding Grant of 20,000 EUR awarded to Conrad Weihl and his group at the Washington University School of Medicine will enable the functional validation of the disease causing gene in a knockout mouse model. The group has vast experience in working with mouse models of neuromuscular disorders. In addition, biochemical studies will be carried out in knockout myoblasts to unravel putative mechanism of pathogenicity.

For more information on the Solve-RD brokerage service and the Seeding Grants see Rare Diseases Models & Mechanisms – Europe (RDMM-Europe).