PILOT

Rare Diseases Monitor

Status: Pilot completed, Running as a service

Link to live dashboard

 

Participating Institutions

Erasmus MC, Amsterdam MC and UMC Groningen on behalf of the NFU

The aim of this pilot is to provide public access to insights (articles, metadata, other information) about rare (or orphan) disease research activities in the Netherlands to researchers, institutions, patient organisations and, Research funders and other stakeholders in health care.

 

How the pilot works

The pilot will use the so-called Orpha.net taxonomy (publicly available CC-BY 4.0) that describes almost all known rare diseases. The pilot will apply that taxonomy to the corpus of academic literature to create fields that can be searched, described and also quantified, by using a vocabulary created by SciBite (part of Elsevier) that allows for precision search and a high level of accuracy, finding articles that match the Orpha codes. This will enable the partners to answer questions, such as:

• Patient: ‘Where is the nearest hotspot of academic research in my disease?’
• PI/researchers: ‘Who would be the best collaborator on this European grant proposal?’
• GP: ‘Whom should I refer this patient to?’
• Research funder: ‘How much work is being done in this disease that is currently without a cure?

 

Support of open science and benefits to researchers and institutions

An open system/tool that provides insights in Rare Disease research (creating visibility of outputs and outcomes per disease or disease cluster) is beneficial for:

• research groups and institutions (showcase expertise to the public, and stimulate collaborations)
• patient groups (finding experts and expert centres of specific rare diseases)
• Research Funders, such as ZonMW
• the pharmaceutical industry and health insurers (research developments and trends).

It helps to make the existing evaluation processes more efficient and supports Evidence Based Medicine (the medical practice or care that emphasizes the practical application of the findings of the best available current research)

 

Relevant links

• Rare Diseases Analytics Statement of Work
• Rare Diseases Analytics Framework Document
• Rare Diseases Research Netherlands
• NFU news item
• Preprint describing the annotation and indexing methodology
• Pilot evaluation document
• Pilot evaluation overview
• Research Paper: The development of a research tool for rare disease research in the Netherlands

 

For more information on how to participate in this pilot, please reach out to Guillaume Warnan, or contact us.