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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. . Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing. Context .

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. The field of medicine is riddled with challenges pertaining to diagnosis and finding treatment therapies for rare diseases. Challenges in rare disease diagnosis and therapy.

Drugs 58
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A history of blood cancer treatment

pharmaphorum

Thanks to the dedicated efforts of doctors, patients, carers, and healthcare professionals, people diagnosed with blood cancer are now living longer, with a steady stream of more effective treatments entering the market each year. 2012 – The 100,000 Genomics Project begins. 1956 – The rise of bone marrow transplants.