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New discoveries in ataxia genetics

This article featured in Illuminate Newsletter Winter ‘24
Haloom Rafehi

Bioinformatician Dr Haloom Rafehi received the 2024 Lorne Genome Mid-Career Award for her work unravelling the genetics of ataxia, a neurological disorder that impairs balance, coordination and speech.

I love being a scientist at WEHI because… the research we do here is world class, and there is also an excellent commitment to gender equality. WEHI provides real resources for supporting female scientists, especially those who are on maternity leave.

What’s great about ataxia genetics is… when I first started in the field, it was a very understudied area of research. We made many new and exciting genetic discoveries very quickly. Now, I enjoy applying novel techniques to try to tease out the more complex genetics.

One of the coolest things I’ve been able to do as a scientist is… have the opportunity to work with individuals with ataxia and study their DNA. Our team has improved the genetic diagnostic rates for ataxia across Australia, benefitting families with long-standing undiagnosed cases.

The thing I’m proudest of is…I helped identify the gene that causes a form of ataxia called CANVAS, which was the first major genetic breakthrough in ataxia genetics in many years, followed closely by the discovery of the gene that causes SCA27B. The genes that cause CANVAS and SCA27B turned out to be very common causes of adult-onset ataxia worldwide.

For me, collaboration means… coming together as a multidisciplinary team to bring unique and valuable contributions to the research program. As a bioinformatician, I am fortunate to work with an amazing team that includes clinicians and wet lab scientists across Melbourne. 

I hope my team’s research will make an impact by … continuing to contribute to the understanding of ataxia genetics and to ultimately make a real and lasting impact on the lives of people who live with genetic disorders, especially those that are rare and currently underfunded. 

When I’m not in the lab, I like to…garden and chase after my overactive three-year-old.

First published on 24 May 2024
This article featured in Illuminate Newsletter Winter ‘24
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