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MCRI's NAD(P)HX dehydratase (NAXD) deficiency discovery

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About MCRI's NAD(P)HX dehydratase (NAXD) deficiency discovery

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An international team of researchers, led by MCRI, identified a rare genetic brain disorder that causes severe neurological damage in children after a mild episode of fever or illness. Sadly, the children died soon after. The research was published in the January 2019 edition of the journal, Brain. Only six cases have been found worldwide. Whole-exome or whole-genome sequencing identified recessive NAXD variants in each case. Lead researcher Dr. Nicole Van Bergen said that given the underlying genetic basis of the disorder is now understood, future research will investigate whether targeted treatments are possible. Narrated by Professor John Christodoulou, Theme Director. Genomic Medicine, MCRI Publication: NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. 2019. DOI: 10.1093/brain/awy310 About MCRI: The Murdoch Children’s Research Institute is the largest child health research institute in Australia and one of the top three worldwide for research quality and impact. We’ve been making a difference in the lives of children for over 30 years, and have found cures and treatments for a wide range of childhood conditions. MCRI Links: Website: https://www.mcri.edu.au Facebook: https://www.facebook.com/MurdochChildrensResearchInstitute Twitter: https://twitter.com/mcri_for_kids LinkedIn: https://www.linkedin.com/company/murdoch-childrens-research-institute Instagram: https://www.instagram.com/murdoch_childrens

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