Pediatric Liver Disorders SIG Program: The Many Faces of Wilson Disease and Emerging Therapies
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This program is intended to make the audience aware of the role that ATP7B gene plays in copper metabolism in healthy individuals as well as those with WD, and also explore the role of epigenetics to help unravel the lack of genotype phenotype correlation. Using case studies, the speakers will highlight common as well as more subtle manifestations of WD, to facilitate early diagnosis and improve outcomes; and provide guidance on management of WD in pregnancy. Finally, management of WD that does not respond to standard therapy as well as current trials including genetherapy will be discussed
Wilson disease
genetic disorder
ATP7B gene
copper accumulation
liver damage
neurological symptoms
psychiatric symptoms
copper metabolism
oxidative stress
DNA damage
treatment options
ongoing research
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