Developing Natural Language Processing and machine learning algorithms for the m...
Developing Natural Language Processing and machine learning algorithms for the most comprehensive knowledge base to speed up diagnosis of rare disease patients
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, r...
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Información proyecto Mendel KBASE
Duración del proyecto: 14 meses
Fecha Inicio: 2019-08-28
Fecha Fin: 2020-11-14
Líder del proyecto
MENDELIAN LTD
No se ha especificado una descripción o un objeto social para esta compañía.
TRL
4-5
Presupuesto del proyecto
124K€
Fecha límite de participación
Sin fecha límite de participación.
Descripción del proyecto
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.