Solve-RD Annual Meeting 2021

Solve-RD Annual Meeting 2021

The next Solve-RD Annual Meeting will take place from 19-21 April 2021. Due to the current pandemic, it will be fully virtual.

Registration is now open: please register here by 9 April 2021.

The agenda will be based on submitted abstracts. You can submit an abstract to one of the seven abstract categories (collection of phenotypes; new phenotypic pattern; re-analyse exomes / genomes, novel molecular strategies; functional analysis; clinical utility; towards therapy).

Please use this abstract template and return it to Birte before 12 March 2021.

Diagnostic odyssey

Diagnostic odyssey

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.

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:

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.