Genetic Clues to OCD Uncovered in New Research
A new study published in the Journal of the American Academy of child & Adolescent Psychiatry has identified a significant link between rare genetic variations and obsessive-compulsive disorder (OCD), especially in children and adolescents. The research, a collaborative effort involving Brazilian and American scientists, suggests these genetic differences aren’t random, but likely contribute to the development of the disorder.
The study focused on copy number variations (CNVs) - deletions or duplications of DNA segments – and found that 75% of those identified in OCD patients were considered potentially harmful. in contrast, no such potentially harmful CNVs were found in a control group of healthy individuals.
“Research represents an significant advance in understanding the genetic roots of OCD, even though it should be seen as part of a larger puzzle,” explains dr. Thomas Fernandez, a children’s psychiatrist at yale School of Medicine and the article’s corresponding author, in a statement to the Agency FAPESP. “It is indeed basic science, which can yield fruits, offering an critically important basis for future research that may eventually lead to better treatments. It is a significant step in a long journey to the full understanding of this complex disorder.”
The research builds upon a long-term partnership spearheaded by Dr. Euripedes Constantino Miguel Filho, a psychiatrist and professor at the USP School of Medicine. In 2008, Dr. Miguel Filho and colleagues established the Brazilian Consortium of Research of the Obsessive-Compulsive Disorder (CTOC), collecting clinical data from individuals with OCD across seven Brazilian centers.
This data was later bolstered by the creation of the obsessive-Compulsive spectrum disorder genetic working group (Brazil Genetic/Phenotype OCD Working Group – GTTOC) in 2023,a collaboration of ten Brazilian centers comprised of psychiatrists,psychologists,nurses,and biologists. GTTOC not only continues to gather clinical data and biological samples from seven states,but also collaborates with two international projects.
To broaden the scope of the research and address the stigma surrounding mental health, GTTOC has also launched an Instagram channel, @somosgentoc, to disseminate accessible scientific data and increase sample diversity. This outreach aims to reach populations with limited access to specialized care, particularly those in remote regions of Brazil. Currently, the group’s sample includes nearly 300 families affected by OCD, alongside 1,200 individuals with the disorder.
The study’s findings and CNV detections are now publicly available to facilitate further integrated analyses by other research groups.
The full article, Characterizing rare DNA copy-number variants in pediatric obsessive-compulsive disorder, can be found at: www.sciencedirect.com/science/article/abs/pii/S0890856725001601.