Hunt for gene causing this family’s heart problems

04 August 2014
Nikita's Story

Nikita first came to The Heart Centre for Children because she had a hole in the top two chambers of her heart, known as an atrial septal defect (ASD). She is not the only person in the family to have a heart condition – her mother, grandfather and younger sister also have ASDs.

Nikita’s mum, Danielle, had surgery to close her ASD when she was 20 years old and Nikita’s grandfather had his surgically closed fairly recently.

The Heart Centre for Children is researching whether there is a gene responsible for structural heart conditions affecting multiple family members like this. The family agreed to participate in the research, donating DNA samples which were stored in the Centre’s DNA Bank.

Recently researchers used new cutting-edge genetic technology called exome sequencing to see if they could find a gene responsible for causing the ASDs in this family. Exome sequencing allows them to analyse the coding regions of every single gene in an individual.

After tedious data mining, the researchers found a likely variation in a gene that is present in all of the affected individuals but not in the unaffected family members. However, there are still a number of experiments needed to confirm the results.

The Heart Centre for Children is currently applying this technology to other families with strong histories of heart conditions and the results so far are looking promising. It is hoped this research will begin to answer some of the ‘why’ and ‘how’ that doctors so often get asked by families.

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