Project description
Search engine to speed up rare disease diagnosis
There’s a common problem with rare diseases: diagnosis delays. It can take up to six years for doctors to provide a definitive diagnosis. The EU-funded Mendel KBASE project will reverse this trend. It launched Mendelian’s search engine where medical professionals receive a ranked list of rare diseases and causative genes based on a patient’s symptoms. Building on this, the project is also developing a highly detailed and comprehensive rare disease knowledge base that will improve the accuracy of the search engine. Mendelian will use natural language processing and machine learning algorithms to automatically extract and process data from medical literature and electronic health records.
Objective
Collectively, rare diseases affect the lives of an estimated 30 million people across the European Union. The majority of rare diseases have a genetic origin, are chronic, highly disabling and life threatening. As a consequence, rare diseases pose a substantial medical burden for patients and an economic burden for society and healthcare systems. Correct diagnosis is highly challenging due to the rarity and sheer number of rare diseases. As a result, it takes an average of five to six years for patients to get their definitive diagnosis which can lead to serious consequences for their health.
Mendelian is an innovative start-up with a mission to speed up diagnosis of rare disease patients by developing intelligent clinical decision support tools. For this, we have launched Mendelian’s search engine where medical professionals receive a ranked list of rare diseases and causative genes based on a patient’s symptoms entered. Building on the technology and knowledge gained during the development of Mendelian’s prototype search engine, we now aim to develop a highly detailed and comprehensive rare disease knowledge base that will improve the accuracy of our search engine and support the development of an automated scanning platform. For this, Mendelian is searching for a highly specialised PhD with expertise in state of the art methods in clinical Natural Language Processing (NLP) and Machine Learning (ML) so that features that are useful for diagnosis can be extracted and processed from medical literature and electronic health records in an automated fashion. Developing a comprehensive rare disease knowledge base in house is highly challenging but would have huge benefits by providing us with the flexibility to adjust and optimize NLP pipelines to optimally meet the needs of the physicians using our tools. With EU support, Mendelian can widen its recruitment market from the UK to EU, increase its visibility and offer the innovation associate a competitive salary.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- natural sciences computer and information sciences data science natural language processing
- natural sciences computer and information sciences artificial intelligence machine learning
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Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
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H2020-EU.2.3. - INDUSTRIAL LEADERSHIP - Innovation In SMEs
MAIN PROGRAMME
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H2020-EU.2.3.2.2. - Enhancing the innovation capacity of SMEs
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Topic(s)
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Funding Scheme
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
CSA - Coordination and support action
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Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
(opens in new window) H2020-INNOSUP-2018-2020
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Net EU financial contribution. The sum of money that the participant receives, deducted by the EU contribution to its linked third party. It considers the distribution of the EU financial contribution between direct beneficiaries of the project and other types of participants, like third-party participants.
EC1V 2NR London
United Kingdom
The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.