New study aims to uncover the genetics of anorexia and other eating disorders

A new direct-to-participant effort now underway is giving people the opportunity to participate in the largest and most diverse genetic study of anorexia nervosa and other eating disorders to date. Researchers at the Broad Institute Ben Neale and Mark Daly are co-leading the study, which allows people across the US to sign up to have their DNA analyzed as part of this effort. 

The team aims to collect and study DNA from 6,000 newly recruited people that will contribute to a larger study goal of 20,000 people — half with eating disorders and half without — to uncover the genetic underpinnings of anorexia nervosa and other eating disorders. The findings could shed light on the biological basis of these conditions and help scientists develop better diagnostics and treatments. The team has already recruited almost 3,000 participants from all 50 states.

Eating disorders run in families and have a strong heritable component, especially anorexia nervosa, but the genetics underlying these conditions are not fully understood. Past research has pinpointed a few genetic factors, but scientists need to analyze DNA from thousands of people with these conditions to find more genetic risk factors and gain a deeper understanding of the biological mechanisms driving these disorders.

“This research into the underlying causes of anorexia nervosa is not only important for learning about the biology with a view to develop new treatments, but it may also help in reducing the stigma associated with this condition,” said Ben Neale, a co-leader of the study. Neale is a core institute member and co-director of the Stanley Center for Psychiatric Research at the Broad Institute.

Eating disorders are estimated to affect nearly 30 million Americans, although most aren’t receiving treatment. In the new direct-to-participant Genetics of Eating Disorders Study, researchers are recruiting US-based participants who are 18 and older through social media to find volunteers who might not be getting treatment for an eating disorder, whether because they live in rural areas far from clinics, cannot take time from work to get treatment, or because of the stigma surrounding eating disorders. 

“Including people with eating disorders who come from all types of communities and who aren’t necessarily in an eating disorder treatment program is essential to ensure that the study is representative of people with these conditions and can also lead to robust findings that would apply broadly,” said Kristin Javaras, a clinical psychologist and statistician at McLean Hospital and assistant professor at Harvard Medical School who is an investigator with the study. 

To recruit a wide range of volunteers, the study’s website is offered in both English and Spanish and allows anyone to check to see if they’re eligible — regardless of whether they've received a diagnosis from a doctor. 

If they meet the required criteria and consent to being part of the study, participants can complete another survey to document their health. Then, they will receive a kit in the mail to use to collect and return saliva samples, which are logged in a specialized secure portal designed by Broad’s Data Sciences Platform. The team then sequences the DNA using an approach called the Blended Genome Exome, an efficient and cost-effective alternative to whole-genome sequencing.

The study brings together leading researchers from the Broad Institute and Harvard T. H. Chan School of Public Health, including Neale; Mark Daly, institute member and co-director of Broad’s Program in Medical and Population Genetics; Javaras; and Archana Basu, a clinical psychologist at Massachusetts General Hospital and an instructor at Harvard Medical School.

“This is just the beginning,” said Christine Stevens, a project manager in Daly’s lab who coordinates the project. “We’re starting with studying anorexia nervosa and hope to one day sequence 100,000 cases to ultimately understand how genetic variation influences the full spectrum of eating disorder diagnoses.”

“Genetic discovery is a step towards replacing stigma with scientific understanding and hope,” Daly said.

 

This project is supported by the Klarman Family Foundation to broaden understanding of the biological basis of eating disorders.