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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. . Context . This personalised approach increased the diagnostic rate from 16.7% of patients. .

Genome 52
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Expediting innovation in the rare disease domain

pharmaphorum

Every time a patient with a rare condition walks into a hospital, doctors face the probable challenge of starting from scratch. Here are the challenges that the medical community faces, most of which relate to the lack of research data, high cost of developing treatments or orphan drugs and greater chances of failure. .

Drugs 78
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A history of blood cancer treatment

pharmaphorum

In fact, according to Blood Cancer UK research, more than half of UK adults cannot name a single symptom of blood cancer. . Over the past two centuries, researchers have identified more than 100 different types of blood cancer, while most patients may be familiar with the big three (leukaemia, lymphoma, and melanoma).