Job offer: Bioinformatician – Rare Diseases

Job offer: Bioinformatician - Rare Diseases

The CNAG-CRG is looking for a bioinformatician to participate in the analysis and management of rare disease data, mostly related to the EC funded Solve-RD project (www.solve-rd.eu). Solve-RD aims to contribute to the IRDiRC vision by solving large numbers of undiagnosed rare diseases through sophisticated data analysis and integrated omics approaches. Thousands of undiagnosed exomes and genomes from Rare Disease patients are being collated at the CNAG-CRG using the RD-Connect Genome-Phenome Analysis Platform (https://rd-connect.eu; https://platform.rd-connect.eu). Solve-RD is also generating hundreds of other -omics datasets and the partners are collaboratively analysis the data using state-of-the-art and novel methods.

More info can be found here.

European Conference on the Diffusion of Genomic Medicine – Health Economics & Policy

European Conference on the Diffusion of Genomic Medicine - Health Economics & Policy

Solve-RD partner LEDi Health Economics Team, University of Burgundy organizes the “ European Conference on the Diffusion of Genomic Medicine: Health Economics & Policy “ on May 28th and 29th, 2020, in Dijon (France).

This two-day symposium alternates plenary sessions and parallel thematic sessions and brings together researchers in the human sciences, mainly in health economics, but also researchers from other disciplines. It will contribute to the development of research in genomic medicine concerning its evaluation, its dissemination, and the public policies accompanying this new type of medicine.

More information: Conference flyer and website.

Solve-RD workshop at ASHG 2019

Solve-RD workshop at ASHG 2019

Interactive Invited Workshop: Solving Rare Diseases with the RD-Connect Genome-Phenome Analysis Platform (GPAP)

When: Monday, 15 October 2019, 6:30pm-8:30pm

Where: ASHG 2019 Annual Meeting, Houston, USA

Register here.

First call of the Solve-RD brokerage service open!

First call of the Solve-RD brokerage service open!

We announce the first call of the Solve-RD brokerage service: All Solve-RD beneficiaries and associated partners can submit a Connection Application by Sunday, 2nd June 2019.
More information can be found here.
In this first call, we will award four Seeding Grants - one per core ERN. In terms of timelines: Connection Applications will be selected in the w/c 24 June. The decision on the Model Organism Investigators (the Seeding Grant applications) will be made in the w/c 29 July.

Summer School: Integrative X-omics analyses empowering personalized healthcare

Summer School: Integrative X-omics analyses empowering personalized healthcare

The Dutch X-Omics infrastructure is organising a summerschool at  Radboudumc in Nijmegen on integrative -omics approaches for personalized healthcare.

Dates: 1-5 July 2019

What: lectures, hands-on computer practicals, use cases

For more information see here. The course programme can be found here.

Job offer: Postdoc in computational genomics

Job offer: Postdoc in computational genomics

A postdoctoral researcher position in Genomics, Bioinformatics, and Statistical Genetics is available in the Computational Genomics group at the Institute of Medical Genetics and Applied Genomics. We are looking for an early experienced, highly motivated researcher with a strong enthusiasm to conduct cutting-edge research at the interface of computational biology and clinical genomics. The position is part of the EU-funded research project “Solve-RD – Solving the Unsolved Rare Diseases” (www.solve-rd.eu), in which we apply the latest sequencing technologies such as whole-genome sequencing, long-read RNA-seq and single cell sequencing to investigate 19,000 unsolved cases of rare genetic diseases. The successful candidate will be part of a large European network of researchers working on computational genomics, rare genetic diseases and personalized medicine.

See job posting here.

Data Sharing Policy

Data Sharing Policy

The Solve-RD Data Sharing Policy has been updated and is now publicly available. Solve-RD aims to make data FAIR - Findable, Accessible, Interoperable and Re-usable. The most important points of the Solve‐RD Data Sharing Policy:

  • All exome/genome sequencing data as well as phenotypic data from unsolved patients will be submitted to the RD‐Connect Genome‐Phenome Analysis Platform (GPAP)
  • All IT systems used in Solve‐RD comply with the General Data Protection Regulation, GDPR (Regulation (EU) 2016/679)
  • Options for uploading datasets include single dataset upload and bulk upload
  • Specific data access stipulations for Solve‐RD in GPAP:
    • All data submitters will be able to see which other users have accessed their submitted datasets and when
    • If justified Solve‐RD data submitters can define longer embargo periods before data become accessible to other users.

Solve-RD GPAP webinar

Solve-RD GPAP webinar

Solve-RD uses the RD-Connect Genome-Phenome Analysis Platform (GPAP) to analyse exome and genome sequencing data of rare disease patients. Phenotypic information (HPO-based) is being collected using PhenoTips.
In this webinar we will show how to use the RD-Connect Genome-Phenome Analysis Platform to analyse your data and explain the different functionalities and settings of the platform.

Solve-RD PhenoTips webinar

Solve-RD PhenoTips webinar

Solve-RD uses the RD-Connect Genome-Phenome Analysis Platform (GPAP) to analyse exome and genome sequencing data of rare disease patients. Phenotypic information (HPO-based) is being collected using PhenoTips.
In this webinar we will show how you can create PhenoTips entries and explain the different steps to submit your data to the RD-Connect Genome-Phenome Analysis Platform.

European Rare Disease Models & Mechanisms Network (RDMM-Europe)

European Rare Disease Models & Mechanisms Network (RDMM-Europe)

Solve-RD is about to establish a European Rare Disease Models & Mechanisms Network (RDMM-Europe) using the successful Canadian blueprint as a role model.

The goal of RDMM-Europe is to link clinicians discovering new genes in patients with rare diseases with basic scientists, who can functionally analyze equivalent genes and pathways in model organisms. Solve-RD will provide 50 Seeding Grants (20,000 EUR each) to fund projects that will allow rapid confirmation of potentially disease-causing genes and elucidation of the underlying molecular disease mechanisms.

The RDMM-Europe registry has now been implemented. European model organism investigators are encouraged to register in the RDMM-Europe registry and enter the genes/pathways they are working on for the respective model organism(s). Registration will express an interest in linking to clinicians representing patients with rare diseases and collaborating in projects funded by Solve-RD.

The Solve-RD Scientific Advisory Committee will use the registry database to determine which scientists are doing work relevant to human disease genes newly identified in the project. Registrants who meet the criteria for a given gene will be invited to apply for a Seeding Grant.

Solve-RD beneficiaries and associated partners will be able to submit a Connection Application to the Solve-RD Clinical Advisory Committee to functionally validate a newly discovered disease gene. We will inform our partners as soon as this is possible.

Further information can be found here.