KKH cre­ates rapid di­ag­nos­tic test for rare dis­eases

BioSpectrum (Asia) - - Q & A -

A multi-dis­ci­plinary team at KK Women’s and Chil­dren’s Hos­pi­tal (KKH), Sin­ga­pore has de­vel­oped a test to en­able faster di­ag­no­sis of rare dis­eases to help crit­i­cally ill chil­dren. Rapid Ge­nomic Se­quenc­ing or RapidSeq of crit­i­cally ill chil­dren in the neona­tal and chil­dren’s in­ten­sive care units is a test, the first of its kind in Sin­ga­pore, to help fam­i­lies by pro­vid­ing in­for­ma­tion on the un­der­ly­ing ge­netic di­ag­no­sis of th­ese crit­i­cally ill chil­dren. The RapidSeq test is be­ing launched un­der the first phase of the BRIDGES pro­gramme. In 2014, the team col­lab­o­rated with ge­nomic re­search in­sti­tutes (in­clud­ing Duke-NUS and A*Star) to cre­ate an in­te­grated ap­proach and de­vel­oped a pro­gramme known as BRIDGES (Bring­ing Re­search In­no­va­tions for the Di­ag­no­sis of GE­netic dis­eases in Sin­ga­pore). Tap­ping on in­no­va­tions in ge­nomic tech­nolo­gies, BRIDGES in­cor­po­rated the se­quenc­ing ser­vice into rou­tine clin­i­cal care to di­rectly ben­e­fit pa­tients and fam­i­lies and im­prove their health out­comes.

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