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).

Second Seeding Grant awarded!

Second Seeding Grant awarded!

The group of Stephanie Efthymiou and her colleagues at the UCL Institute of Neurology identified novel variants of a gene associated with severe neurodevelopmental disorders. Homozygous carriers of the alleles come up with severely delayed psychomotor development. Neurophysiological investigations indicated severe demyelination, axonal neuropathy and loss of cerebral white matter.

The RDMM-Europe seeding grant will facilitate the generation of a mouse model by Sara Wells at the Mary Lyon Centre, MRC Harwell Institute by using CRISPR/Cas9 technology to alter this novel gene. The model will play an important role in understanding the pathological consequences of the novel gene variants. In particular, the mutants will be studied for phenotypic features observed in the patient, such as neurological development, locomotor activity and behaviour. Modelling this human disease will not only help to provide further evidence on this new rare genetic disease and hence to improve diagnostic and management strategies, but will also facilitate assessment of potential treatment possibilities for patients.

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

Solve-RD Annual Meeting 2020

Solve-RD Annual Meeting 2020

From 5-6 March 2020 the Solve-RD Annual Meeting took place in Barcelona, Spain, hosted by our partner CNAG-CRG. Almost 100 participants from Solve-RD partners, associated ERNs and Undiagnosed Disease Networks attended the meeting.

The meeting was a great success and we have made important steps forward! The best news is that we already solved 130 cases by the re-analysis of unsolved exomes and re-analysis is well under way now.

First Seeding Grant awarded!

First Seeding Grant awarded!

The group of Lisenka Vissers and her colleagues at Radboud University Medical Centre identified novel variants of a gene associated with complex cortical dysplasia and other brain malformations. Affected patients are clinically characterized by neurodevelopmental delay, intellectual disability and refractory epilepsy.
The RDMM Europe Seeding Grant will facilitate the characterisation of a knock-in mouse model by Binnaz Yalcin and her group at University of Burgundy, Dijon, France as part of Inserm U1231. For the validation of the novel gene variants the mouse model will be characterized by histological and neuroanatomical methods as well as in behavioural tests. By modelling this novel rare human disease we expect to improve diagnosis and future treatment possibilities for affected patients.
For more information on the Solve-RD brokerage service and the Seeding Grants see Rare Diseases Models & Mechanisms – Europe (RDMM-Europe).

Solve-RD Brokerage Service Call open!

Solve-RD Brokerage Service Call open!

We announce the 3rd call of the Solve-RD brokerage service: All Solve-RD beneficiaries and associated partners can submit a Connection Application by Wednesday, 8 April 2020.
More information can be found here.
In terms of timelines: Connection Applications will be selected in the w/c 27 April. The decision on the Model Organism Investigators (the Seeding Grant applications) will be made in the w/c 29 June.