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Nicole Lake

Dr Lake completed her PhD in 2018 at the Murdoch Children’s Research Institute in Melbourne, supported by a Mito Foundation top-up scholarship. She researched the genetic basis of mitochondrial disease using whole genome sequencing. In 2019, she commenced her postdoctoral training at Yale University in the department of genetics, and aims to continue to improve our understanding of the genetic basis of rare disorders, including mitochondrial disease.

What attracted you to mito research?

I undertook my PhD in mitochondrial research because I really valued the opportunity to have my research discoveries  translated into improved diagnosis, and even treatments, for individuals with mitochondrial disease. But I actually first became interested in mitochondria as a teenager, after reading a book about mitochondrial DNA.

What was the focus of your PhD?

My PhD focused on finding genetic causes of Leigh syndrome, the most common childhood form of mitochondrial disease. This research led to the discovery of new disease genes, and also helped us better understand how to use new genetic testing approaches to find hidden causes of disease.

What is your current research focus as a postdoc?

As a postdoc I have been working to help increase the genetic diagnosis rate for rare diseases, including mitochondrial disorders. In particular I have focused on building tools to help recognize disease-causing mutations in the mitochondrial genome. This special part of our DNA is an important contributor to health and disease, but there aren’t many tools available to help scientists analyze it. I’m aiming to change this!

What was the journey from PhD student to postdoctoral  researcher like?

I enjoyed the transition from PhD to postdoc! For me it felt like a natural progression, thanks to my PhD having provided me with the necessary skillset. The support of the Mito Foundation certainly had a hand in this, particularly the travel grants I received which gave me an invaluable opportunity to attend international scientific conferences, as well as learn new skills at world-leading research institutes.

Where do you see yourself in the future/in 5 years?

Hopefully still helping to improve our understanding of genetic causes of disease and how to find them - including of course for mitochondrial diseases!