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Crigler najjar syndrome ebook

Crigler-Najjar Syndrome: A Clinical and Research Perspective (Rare Genomics Institute & RareShare)

Publication date: 27 Feb 2017

Associated community Crigler-Najjar Syndrome

This e-book was compiled by the RG Scientific Analyst Team, which consists of highschool and undergrad students from across Canada: Megan Chan, Roberto Fedrigo, Jessica Fung, Dororthy Qian, Chuheng Xing, Mathew Yip and Sharmin Yousef-Led by Henry He and Supervised by Deepa Kushwaha, PhD, Scientific Director


Crigler-Najjar Syndrome (CNS), is a rare disorder that is characterized by high levels of bilirubin, a toxic compound, in the blood. There are two types of CNS – Type 1 is the more severe one reveals itself at birth, while those that suffer from Type 2 often survive to adulthood. Signs and symptoms of CNS include jaundice, weak muscle tone, deafness, and paralysis of the oculomotor nerve. Phototherapy, used to break down bilirubin, can be used to treat both Type 1 and Type 2. Regular treatment may not be necessary for those with Type 2 CNS. There are currently gene therapies being developed to treat CNS. This involves replacing defective copies of the gene of interest with healthy, wild-type genes, allowing the body to restore the function of the enzyme produced by that gene.