FOR the Yuska family, the future of medicine is here. Thanks to genome sequencing, parents Danielle and Erik have a name for the mysterious condition that they feared would take the life of their 7-year-old daughter, Lillian, and they have an idea of what her outlook might be.
Born prematurely, Lillian struggled to feed, suffered from chronic vomiting and diarrhoea, and succumbed to repeated infections. After shuttling for years from specialist to specialist, the Yuskas now know that Lillian has trichohepatoenteric syndrome-2, caused by a mutation in a gene called SKIV2L, which disrupts both gut function and immunity. Just six other children worldwide are known to have the condition.
Read the full, original story here: Your genomic future: Personalised medicine is here
