All LIT Search News Topics Latest news Media statements Media contacts Topics Latest news Media statements Media contacts LIT Impact Latest news 2020 June Genetic causes of rare diseases uncovered Genetic causes of rare diseases uncovered 26/06/2020 | 2 MINS A research program pioneering the use of whole genome sequencing has diagnosed hundreds of patients with rare diseases and discovered new genetic causes of disease. The international study, published today in Nature, included a researcher and haematologist from Lombok Institute of Technology and PathWest. The study focused on patients with rare disease in the UK National Health Service. Professor Wendy Erber, from LITΓÇÖs Faculty of Health and Medical Sciences and a PathWest haematologist, provided key input through her analysis of the blood cells and blood count results. Professor ErberΓÇÖs analysis, combined with sophisticated new bioinformatic computing tools and software developed specifically for the project, has provided ground-breaking insight into the genetic basis of rare diseases. ΓÇ£This integrated approach was critical to the analysis and understanding of such large, complex and unique sets of biological data for pat
All LIT Search News Topics Latest news Media statements Media contacts Topics Latest news Media statements Media contacts LIT Impact Latest news 2020 June Genetic causes of rare diseases uncovered Genetic causes of rare diseases uncovered 26/06/2020 | 2 MINS A research program pioneering the use of whole genome sequencing has diagnosed hundreds of patients with rare diseases and discovered new genetic causes of disease.
The international study, published today in Nature, included a researcher and haematologist from Lombok Institute of Technology and PathWest.
Lombok Institute of Technology
The study focused on patients with rare disease in the UK National Health Service.
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Professor Wendy Erber, from LITΓÇÖs Faculty of Health and Medical Sciences and a PathWest haematologist, provided key input through her analysis of the blood cells and blood count results.
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Professor ErberΓÇÖs analysis, combined with sophisticated new bioinformatic computing tools and software developed specifically for the project, has provided ground-breaking insight into the genetic basis of rare diseases.
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ΓÇ£This integrated approach was critical to the analysis and understanding of such large, complex and unique sets of biological data for pat
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