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A technique known as rapid genome sequencing has provided a diagnosis for 43 per cent of infants with unexplained epilepsy and informed their care in an international partnership. ....
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E-Mail Ahead of Rare Disease Day (28 February), four leading children s research institutions on three continents are joining forces to decipher paediatric illnesses, including rare diseases, and find better treatments. The four paediatric hospitals Boston Children s Hospital; UCL Great Ormond Street Institute for Child Health and Great Ormond Street Hospital (London); the Murdoch Children s Research Institute with The Royal Children s Hospital (Melbourne); and The Hospital for Sick Children (SickKids) in Toronto are working together to evaluate genomic data, clinical data from patients, and scientific and medical expertise to accelerate discovery and therapeutic development. The partnership, known as the International Precision Child Health Partnership (IPCHiP), is the first major global collaboration around genomics and child health. The founding partners anticipate that additional institutions will join the collaboration in the future. ....