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Nanopore Sequencing Test Can Diagnose 50 Genetic Diseases

Researchers say a single DNA test will revolutionize the diagnosis of STR expansion disorders and avoid potentially years of “diagnostic odyssey.”

New south walesIra devesonGina ravenscroftHarry perkins institute of medical researchGarvan instituteGarvan institute of medical researchMedical researchOxford nanopore technologiesScience advancesHarry perkins institute

Single DNA Test Can Screen for Over 50 Genetic Diseases

A new DNA test has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more accurately than existing tests.

New south walesUnited kingdomIra devesonGina ravenscroftKishore kumarHarry perkins institute of medical researchGarvan instituteGarvan institute of medical researchMedical researchGenomics technologiesShort tandem repeatScience advancesWith nanoporeHarry perkins institute

New DNA test can quickly and accurately identify a range of hard-to-diagnose genetic diseases

A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.

New south walesUnited kingdomIra devesonGina ravenscroftKishore kumarEmily hendersonHarry perkins institute of medical researchGarvan instituteGarvan institute of medical researchMedical researchGenomics technologiesShort tandem repeatScience advancesWith nanoporeHarry perkins instituteFragilex syndrome

Single test for over 50 genetic diseases will cut diagnosis from decades to days

Single test for over 50 genetic diseases will cut diagnosis from decades to days
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New south walesUnited kingdomIra devesonGina ravenscroftKishore kumarHarry perkins institute of medical researchGarvan instituteGarvan institute of medical researchMedical researchGenomics technologiesShort tandem repeatScience advancesWith nanoporeHarry perkins institute

Pioneering research projects awarded federal funding

Pioneering research projects awarded federal funding
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Western australiaAshleigh linGina ravenscroftAnna nowakGreg huntHarry perkins institute of medical researchNational healthResearch councilTelethon kids instituteFederal governmentMinister greg huntInvestigator grantMedical research councilHarry perkins instituteMedical researchProfessor britta regli von ungern sternberg