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Personalising whole genome sequencing doubles diagnosis of rare diseases 

Drug Discovery World

In 2018, the UK’s department of health announced an NHS Genomic Medicine Service, which allows patients with rare diseases to have their entire genetic code read in the hope of providing a much-needed diagnosis. Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing. The study .

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 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.