The genetics of anorexia nervosa (AN) is the research focus of Natasha Berthold for her PhD.  

Natasha developed a keen interest in genetics and neuroscience while studying for her undergraduate degree and with firsthand experience of an eating disorder, she began developing her scientific skillset to ask questions about the elusive underlying genetics of anorexia nervosa. 

AN has the highest mortality rate of all psychiatric disorders, and patient outcomes are poor, with relapse rates up to 40 per cent. 

Natasha’s Honours research was supervised by Professor Anthony Akkari and the Motor Neurone Disease Genetics and Therapeutics Research group at Perron Institute. 

Now embarked on her PhD studies via the University of Western Australia, she will again be supervised by Professor Akkari (Perron Institute and Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University), as well as Professor Sean Hood (UWA), Associate Professor Silvana Gaudieri (UWA), Dr Monika Tschochner (University of Notre Dame) and Professor Martin Kennedy (University of Otago).  

Natasha published a paper recently, highlighted in the International Journal of Eating Disorders entitled ‘Bridging the Gap: Short Structural Variants in the Genetics of Anorexia Nervosa’. This research was for some of her Honours work at the Perron Institute last year. 

Natasha is first author and Professor Akkari is the senior author. The other authors are PhD student Julia Pytte (CMMIT, Murdoch University), Cynthia Bulik PhD (University of North Carolina), Monika Tschochner PhD (Notre Dame University) and Sarah Medland PhD (QIMR Berghofer). 

“There are no medications that target the underlying biology of anorexia nervosa,” Natasha said. “Outcomes could be improved with increased understanding of pathogenic mechanisms responsible for the development of AN.” 

“Successful short structural variant mapping has the potential to extend genomic discovery in this disorder. We hope to uncover undetected heritability, explain novel pathogenic mechanisms, and identify targets for new therapies. The long-term objective is to reduce mortality and improve quality of life for individuals with AN.” 

Natasha is honoured to be a member of the Psychiatric Genetics Consortium (PGC) eating disorders workgroup as well as the PGC Outreach Committee. The PGC started at the University of North Carolina (UNC) School of Medicine and is now global.  

Next month, she is heading to the US for a highly competitive summer research fellowship at UNC-Chapel Hill Centre of Excellence in Eating Disorders. There, she will be conducting research under the mentorship of some of the world’s leading eating disorders researchers.  

Professor Akkari said: “It’s important to encourage undergraduate research engagement. I’m proud of Natasha and her recent achievements. During my time in North Carolina and the US, I developed a greater understanding of research methodologies and worked with teams at the cutting edge of the neurodegenerative disease field. I’m sure Natasha will be inspired by working with leaders in the AN field in a similar way.” 

Locally, Natasha has been invited back to her high school, Iona Presentation College, to be a guest speaker at a Year 10 mentoring event this week. 

“Science has become more than my career,” she said. “It has become my purpose and a life that I love.”