Rare Disorder Genetics

What is the cause of my child’s condition? 

We research this by sequencing DNA to search for alterations that might cause the features observed in the affected child. 

We will often sequence both parents as well, as this can be very helpful in reducing the number of alterations to analyse.

What could my child's future wellbeing look like? 

We collaborate with clinicians and researchers from both within Aotearoa New Zealand and around the world, to learn more about people affected by the genetic disorders we study. 

If we can identify more people who have a genetic alteration in the same gene, then we can bring together medical information to help understand what features are more common or more rare. 

Health professionals working with these families can then use this information to help guide the best care.

We remain in awe of the power of alterations in DNA to impact how a human can grow and develop. 

Some of our research is dedicated to understanding the consequences of these alterations, and how we can use this information for other, more common, health issues.

Finding a genetic alteration is often only the first step in our research. 

We want to understand the consequences of this alteration on how the encoded molecule works, and the bigger scale consequences to how a cell functions. 

Many student projects focus on exploring these consequences, using a variety of assays and cell-based experiments to get answers.