The new Phenopackets ISO standard facilitates data sharing
The International Organization for Standardization (ISO) has published Phenopackets, the first clear computational way to…
October 6, 2022
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Brescia Workshop on Neuromuscular Diseases
On 22-24 September 2022, at the Centro Congressi Paolo VI took place the Brescia Workshop…
FAIR Data Sharing Without Oversharing
Duchenne Parent Project and European Reference Network for Neuromuscular Diseases can now begin leveraging their…
The ERN Research Mobility Fellowships call
The Research Mobility Fellowships will open on October 3rd, 2022 The call for Research Mobility…
MFM Delphi Round 1
[quform id=”35″ name=”round1″]
EJPRD : Innovation Management Toolbox (IMT)
The Innovation Management Toolbox is a reference library of resources in rare disease translational medicine.…
Primary Mitochondrial Myopathies
Delivered by Pr. Dr. Michelangelo Mancuso
Duchenne Muscular Dystrophy Genetic Diagnosis
Delivered by Prof. Alessandra Ferlini, Drs. Rita Selvatici, Francesca Gualandi and Carl Fratter.
Targeted Therapies for Leigh Syndrome Systematic Review and Steps Towards a “Treatabolome”
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Medical Survey Screen4Care about Machine Learning
Within Screen4Care, an Innovative Medicines Initiative (IMI 2 JU), researchers are investigating medical specialists’ understanding,…