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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

To do so, they tested how using a genomic medicine team of specialist doctors, bioinformaticians, and scientists could boost the capabilities of NHS diagnostic laboratories beyond the standard semi-automated analysis of data. . This personalised approach increased the diagnostic rate from 16.7% of patients. . Official comments .

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. Small sample size in trials: Finding eligible patients for clinical trials of orphan medicines is a big challenge. Genetic testing has played a big role in enhancing the diagnosis process.

Drugs 78
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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.