Australia supports world’s largest genetics investigation into eating disorder risk factors

Australia supports world’s largest genetics investigation into eating disorder risk factors

‘Grandma, when you were in the hospital last year, were you really sick?’
The year is 2016. My eldest grandchild, aged nine, and I are walking home from the local shops, enjoying a little ‘us’ time, when he pops this question out of the blue. I pause in my step. Almost drop my bundle.

His beautiful, almond-shaped brown eyes are searching my face for an answer.
My mind is racing. Six months have passed since I was discharged from the hospital. Yes, I had been admitted for a long time. Almost four months. Has my grandson been wondering all this time? Has another adult said something to him? Recently, his other grandmother, ‘Nan’, a keen sportswoman, has had shoulder and knee reconstructions, and his Grandpa George has had a knee reconstruction.
Nan and Grandpa exhibited physical evidence of their hospital admissions, with slings and crutches and physiotherapy appointments.
While I sat in bed (with PTSD*), and looked pretty ‘normal’.
My grandson has his head on one side, his gaze penetrating, waiting.
The truth, June. Tell the truth.
‘Yes, I was really sick,’ I say.
‘I didn’t look sick like Nan or Grandpa, but I was sick.
‘Sometimes we are sick inside, and yet look quite normal on the outside.’
This is digested, thoughtfully.
‘But are you better now, Grandma?’
‘Yes, I am much better now.
“And I am loving having this special time with you.’
With that, my heart singing and my grandson’s curiosity appeased, we continue our walk home, our conversation reverting to light-hearted discussion of the toy mice we had just selected in the $2 store to amuse Norah Kitten, the likely football results at the weekend, and what is happening at school.
My grandson’s question is thumping in my brain, though. Other questions will follow as he grows older, and I want to be ready to answer them properly and adequately. He has a grandparent who has had bio/psycho/social challenges. Me.
Until now, he has seen me as ‘Grandma’. Period.
However, at the age of nine, he is beginning to consider his place in the family and the wider world. I want him to feel at ease in asking questions to satisfy his need to know, to satisfy his curiosity. I want to be able to give him the right answers.
My grandson’s question is making my heart ache. In two years, he will be the age I was when I developed anorexia.
‘Will this ever end?’ I am screaming inside. ‘Can’t I just be ‘normal’?’
The reality is, the effects of anorexia, for me, will not end. Its tormenting voice no longer rules my life, but the illness that almost took my life affected my marriage, and my children, who had to grow up with a mother whose mind was sabotaged by anorexia. I do not want this illness to affect my grandchildren or their children.*

‘I would hate for my grandson to be wondering.’

While my healing from Anorexia Nervosa is well-advanced, long-term effects and co-morbidity challenges continue. They have become easier to manage in my family environment, in that the illness is no longer swept under the carpet like an embarrassing secret, to be ignored, denied, spoken of as ‘a problem’ or weakness in the family.
The illness is acknowledged, even if not fully understood, and I’m glad my grandson feels able to ask, ‘Grandma, were you really sick?’, because he obviously has been giving this question deep thought. I would hate for him to be wondering, as I did when I was a kid, and not feel free to seek answers.
I just wish I had more answers to give. Especially for my family. Especially as we now know that genetics has a role in the development of eating disorders. For my family of creation is everything to me.

(The above text is adapted from a blog post in 2016 to encourage participation in the ground-breaking Anorexia Nervosa Genetics Initiative (ANGI) research, a bid to crack the genetic code of anorexia. This article was one in a series I wrote to encourage people with eating disorder experience to partake in this study—starting with ‘Roll up your sleeve for science’ in 2013.

In 2025, my eldest grandson, now a university student, towers over me in height. He loves playing golf and remains a bright, inspiring light in my life.

In his 18th birthday card, I wrote about how his birth in 2006 became a benchmark for my freedom from Anorexia Nervosa that afflicted me for 44 years. I thanked him for his acceptance of me, not as ‘someone with an eating disorder’ but as ‘Grandma’. I thanked him for showing me, from the day he was born, how to live.

How you can help our researchers find the answers

I urge Australians to participate in a new research initiative that seeks more than 4,000 participants. This initiative aims to decode the genetics of eating disorders to identify risk factors and transform treatment. To participate, simply provide a saliva sample (see below).

QIMR Berghofer and InsideOut Institute in Queensland have launched the Eating Disorders Genetics Initiative 2 (EDGI2) study recruitment campaign, coinciding with the publication of an MJA Insight+ article.

 About the EDGI2 study

•       The national appeal is for 4000+ adults aged 18+, with lived experience of an eating disorder, to join the world’s largest genetics investigation into the risk factors driving these complex illnesses [National Eating Disorders Collaboration, What is an Eating Disorder? 2024.]
•       The Eating Disorders Genetics Initiative 2 (EDGI2) aims to pinpoint the hundreds of genes influencing a person’s risk of developing anorexia nervosa, bulimia nervosa, binge-eating disorder and Avoidant Restrictive Food Intake Disorder (ARFID), to improve treatment, and save lives.
•       The large-scale EDGI2 study strives to collect data from a diverse group of Australians with lived experience of eating disorders, to pinpoint the specific genes potentially influencing both their journey with the disorders, and response to treatment.
•       Any adults diagnosed or undiagnosed with an eating disorder, along with their family members who also have anxiety, are encouraged to participate. This includes those with co-existing mental health conditions, such as depressive disorders.
•       QIMR Berghofer in Brisbane is leading the Australian arm of the study in collaboration with the InsideOut Institute for Eating Disorders.
•       Geneticist and Head of the Genetic Epidemiology Research Group at QIMR Berghofer, Brisbane, Professor Nick Martin, is leading the Australian arm of the EDGI2 study, alongside co-Investigator Professor Sarah Maquire OAM at the InsideOut Institute, Sydney. Clinical Psychiatrist and Distinguished Professor of Eating Disorders in the Department of Psychiatry, University of North Carolina, USA, Professor Cynthia Bulik, is leading the international study.
•       Australia, New Zealand, the United States, United Kingdom, Mexico, Sweden and Denmark each have centres contributing to this important initiative.

About eating disorders and prevalence

•       An eating disorder is a complex mental illness that, for some people, can lead to severe and permanent physical complications and even death.
•       In 2023, 1.1 million Australians were living with an eating disorder, equating to one in 23 people or almost five per cent of the Australian adult population.
•       The prevalence of eating disorders appears to be on the rise, with a 21 per cent increase in the prevalence of disordered eating behaviour observed in Australian communities over 11 years.
•       Eating disorders can affect anyone, regardless of gender or cultural background.
•       In 2023, 27 per cent of Australians with an eating disorder were under 19 years of age,
12 per cent higher than in 2012.
•       Eating disorders are not a choice – they are serious illnesses.
•       There are several types of eating disorders, including anorexia nervosa, bulimia nervosa, binge-eating disorder, Avoidant Restrictive Food Intake Disorder (ARFID), and other specified feeding or eating disorders (OSFED).
•       Many factors influence eating disorders, including genetics, developmental transitions (including puberty, childbirth, and menopause), thinking styles (such as perfectionism), body dissatisfaction, and sociocultural pressures to be thin.
•       Eating disorders cause significant distress to the lives of an individual, their family, carers, partners and friends.
•       Commonly co-occurring conditions associated with eating disorders include mood disorders (such as depression), anxiety disorders (especially social anxiety disorder and obsessive-compulsive disorder, or OCD), substance abuse disorders (such as alcohol problems), and personality disorders.

About the Eating Disorders Genetics Initiative 2 (EDGI2) study

•       The Eating Disorders Genetics Initiative 2 (EDGI2) is the world’s largest genetic investigation of eating disorders ever performed.
•       EDGI2 aims to identify the hundreds of genes that influence a person’s risk of developing the complex, devastating illnesses of anorexia nervosa, bulimia nervosa, binge-eating disorder and Avoidant Restrictive Food Intake Disorder (ARFID), to improve treatment, and ultimately, save lives.
•       EDGI2 builds upon the groundbreaking advances made in the initial EDGI investigation and the collaborative Anorexia Nervosa Genetics Initiative (ANGI), in which researchers, including the EDGI team, identified the first eight genes associated with anorexia nervosa, implicating both psychiatric and metabolic causes for the condition. This was a total surprise and a finding that urgently needs replication and expansion to fully understand the pathways that lead to this debilitating condition – hence the need for a much larger sample size, which is the aim of EDGI2.
•       This ground-breaking research should identify dozens of genes that influence a person’s risk of developing an eating disorder.
•       Cracking the genetic code of eating disorders will enable the development of new and more effective personalised treatments that will target the problem directly.
•       Many international studies to date have explored a person’s genetic predisposition to eating disorders. However, only a handful of the specific predisposing genes have been identified, and many more are yet to be discovered.
•       Study researchers will analyse DNA from saliva samples collected through the study to find specific genes associated with eating disorders.
•       Before analysis can begin, DNA will be extracted from the saliva sample and genotyped to provide a ‘readout’ of each participant’s genetic code.

Call to action

•       To volunteer for or learn more about the Eating Disorder Genetics Initiative 2 (EDGI2) study, head to edgi2.org.au or email edgi2@qimrb.edu.au.
•       Recruitment closes on Wednesday, December 31, 2025.

EDGI2 researchers and logistics

•       Study researchers will analyse DNA from saliva samples collected through the study to find specific genes associated with eating disorders.
•       Genome-wide association studies (GWAS) – the technology used to explore the genetics of eating disorders – examine markers across the DNA of those with experience of the disorder, compared to unaffected controls, to identify specific differences in the genome that contribute to the risk of developing an eating disorder.
•       This knowledge will be used to improve existing treatments and to develop new treatments for eating disorders.

Study participation (in detail)

•       All EDGI2 participants must be aged 18+ years, living in Australia, and diagnosed with, or have experience of, an eating disorder.
•       Able to provide online consent.
•       Complete a 15-20 minute core online survey about experiences of eating disorders and treatment.
•       [Optional] Complete several short, additional survey modules on important topics related to their eating disorder experience, including mood, treatment and personality.
•       Depending on the responses to the core online survey, participants may be asked to donate a saliva sample, which will be collected in a pre-paid envelope and returned to QIMR Berghofer.
•       EDGI2 researchers will extract DNA from saliva samples to identify specific genes associated with eating disorders.
•       Study participation is strictly confidential. All participant information provided will be maintained in accordance with the Commonwealth Privacy Act (1998) and National Health and Medical Research Council (NHMRC) Guidelines.

Why is the eating disorders genetics 2 (EDGI2) study important?
The Eating Disorders Genetics Initiative 2 (EGDI2) is important because it will enable researchers to identify genetic factors that determine why some people develop eating disorders, while others do not, and why some people living with eating disorders respond to certain treatments, while others do not.

How will one benefit from participating in EDGI2?
Participating in EDGI2 could make a genuine contribution to the future diagnosis, management, and treatment of eating disorders. Identification of the genes influencing a person’s risk of developing eating disorders will revolutionise future research into causes, treatment and prevention of the illness.

How will EDGI2 participant DNA records be stored, and what measures will ensure that privacy is maintained?
EDGI2 participation is strictly confidential. All participant information provided will be maintained in accordance with the Commonwealth Privacy Act (1988) and National Health and Medical Research Council (NHMRC) Guidelines.

*Post Traumatic Stress Disorder (PTSD). Sigh, Anorexia Nervosa rarely exists alone.