Anisa was originally diagnosed as a child, based on her symptoms. Over the past 20 years, she has undergone numerous blood tests and biopsies in an attempt to find the specific cause.

Through the Demonstration Project, virtually all Anisa’s genes were sequenced but, for ethical and practical reasons, only the sixty or so genes known to cause this condition were analysed. Anisa’s doctors were surprised that there was no change found in these genes.

Traditionally, only a limited number of genes are sequenced and nothing further is possible. However, in a genomic sequencing test, all the genes are sequenced and the raw data is stored. Therefore, it was possible to re-analyse Anisa’s data. This involved an analysis of a wider set of genes and genes discovered after her data was first analysed.

As a result of this re-analysis, a gene variant responsible for Anisa’s condition was found.

She now hopes that her result will help more people, especially children, receive diagnoses more quickly, avoiding the burdens associated with prolonged investigations.

We sincerely thank Anisa for sharing her story.

Subscribe

We could talk genomics all day, but we’ll send you only what’s useful and interesting.

Melbourne Genomics acknowledges the Wurundjeri people of the Kulin Nation, on whose lands we work, and all First Nations peoples across Victoria. We pay respect to Elders past and present. We also acknowledge the First Nations health professionals, researchers and leaders who are shaping the future of genomic medicine.

© 2014–2022 Melbourne Genomics Health Alliance