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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. It also detected potential disease-causing variants in a further 3.9% The study . of patients. .

Genome 52
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Searching for answers in rare epilepsy

pharmaphorum

She developed fine for the first six months of her life,” he says, “but then she stopped smiling, she stopped giggling, and stopped taking an interest in her surroundings. Doctors were able to control the seizures, and Charlie’s daughter started to progress normally again, but a year and a half later she had another serious seizure at night.

Genome 90
article thumbnail

Searching for answers in rare epilepsy

pharmaphorum

She developed fine for the first six months of her life,” he says, “but then she stopped smiling, she stopped giggling, and stopped taking an interest in her surroundings. Doctors were able to control the seizures, and Charlie’s daughter started to progress normally again, but a year and a half later she had another serious seizure at night.

Genome 78