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Developing Natural Language Processing and machine learning algorithms for the most comprehensive knowledge base to speed up diagnosis of rare disease patients

Total Cost €


EC-Contrib. €






 Mendel KBASE project word cloud

Explore the words cloud of the Mendel KBASE project. It provides you a very rough idea of what is the project "Mendel KBASE" about.

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Project "Mendel KBASE" data sheet

The following table provides information about the project.


Organization address
address: FLAT 23 104-122 CITY ROAD
city: London
postcode: EC1V 2NR
website: n.a.

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country United Kingdom [UK]
 Total cost 123˙875 €
 EC max contribution 123˙875 € (100%)
 Programme 1. H2020-EU. (Enhancing the innovation capacity of SMEs)
 Code Call H2020-INNOSUP-2019-02
 Funding Scheme CSA
 Starting year 2019
 Duration (year-month-day) from 2019-11-15   to  2020-11-14


Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    MENDELIAN LTD UK (London) coordinator 123˙875.00


 Project 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.

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The information about "MENDEL KBASE" are provided by the European Opendata Portal: CORDIS opendata.

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