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Brain and mental health

Biggest ever study into Obsessive Compulsive Disorder unlocks new genes that cause debilitating condition

14th May 2025

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QIMR Berghofer researchers have found the genes linked to Obsessive Compulsive Disorder (OCD) for the first time, after identifying 30 regions on the human genome associated with this debilitating yet often misunderstood mental health condition.

 The global research (published in Nature Genetics), involved more than 50,000 people with OCD and 2 million people who did not have OCD, and pinpointed approximately 250 genes linked to OCD.

"This is the first study where we found actual genes that play a role in OCD, which is really exciting," says Professor Eske Derks, senior group leader of the Translational Neurogenomics Laboratory at QIMR Berghofer. "We've been working on this for many years, but these findings have dramatically increased our knowledge of the genetic basis of OCD.”

OCD is often categorised as an obsession with cleaning, or checking. However, it can take many forms including people worrying about harming others, doubts about relationships, existential worries, inappropriate sexual thoughts, or persistent concern about their responsibilities in life.

The study revealed that genes linked to OCD are most active in three key brain areas: the hippocampus, striatum, and cerebral cortex. These findings align with previous neuroscience studies, strengthening the evidence for these regions' involvement in OCD.

Professor Derks added, "We found a really large number of genes which are shared with anxiety disorders, depression and also with anorexia nervosa. There's a lot of overlap in the genes that cause these different mental health conditions."

Clinical psychologist and OCD specialist Dr Emily O’Leary says despite being as common as diabetes, OCD can be a hidden disorder. “It can be incredibly impactful to the point that the World Health Organisation rates it as one of the top ten disabilities in the world. It not only impacts the individual, but also the family, because everyone is trying to accommodate the OCD,” she said.

“People who suffer from OCD are driven by a fear they’ve done something wrong, or that they’re going to do something wrong. They worry they could hurt their loved ones or themselves. For people with OCD, it’s like being trapped in their own worst nightmare.”

Professor Derks believes the future is looking brighter for people with OCD, if there’s community and government support. “The next steps for our research team are to use these genetic discoveries to identify existing drugs, currently being used to treat other conditions, that may be effective for OCD patients, paving the way for more innovative treatment options. OCD has traditionally been an under-funded area of medical science, so in order for us to build on these remarkable genetic findings we need more funding.”

Dr O’Leary says the findings offer an opportunity to speed up diagnosis and treatment.

“What happens in clinical practice is that clients will come to us, typically 10 to 14 years after diagnosis and by this time they are really unwell. What this research shows us is that we can be more proactive and actually start looking at who is more likely to develop the disorder.”

Professor Eske Derks is senior group leader of the Translational Neurogenomics Laboratory at QIMR Berghofer

Professor Derks is passionate about the research’s impact on community understanding of this condition.

"I hope it will reduce the stigma around OCD, showing that this is at least partly in your biology. We want to let people know there is something we can do to help and we are on our way to developing better targeted therapies for those who are suffering." 

ABOUT OCD:

- 500 thousand Australians are affected by OCD.

- types of OCD include contamination and cleaning, symmetry and perfectionism, harm and checking, sexually inappropriate thoughts, and hoarding.

- OCD can start in late childhood or early teenage years, but can also begin for women after childbirth.

- current treatments include psychological therapy, medication and community support programs.

To read the full research paper: https://www.nature.com/articles/s41588-025-02189-z

DOI: 10.1038/s41588-025-02189-z