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Paradigm Challenge  /  Biology

The brain changes seen in psychiatric patients are likely a result of the disease's progression or treatment rather than the genetic risk factors they were born with.

Researchers have long searched for the specific physical signatures in the brain that match up with the genetic mutations that cause mental illness. A massive comparison of brain scans shows that these genetic risk factors and the actual clinical diagnoses look nothing alike. The thinning or shape changes in the cortex of a patient with schizophrenia do not match the brain patterns of people who have the same genetic risk but no symptoms. This suggests that the psychiatric brain is a product of the struggle with the illness itself rather than a predetermined genetic blueprint. This shift in thinking emphasizes the importance of early intervention to prevent these physical changes from ever occurring.

Original Paper

Copy number variants reveal divergent genetic and diagnostic cortical signatures across psychiatric disorders

Kuldeep Kumar, Zhijie Liao, Jakub Kopal, Clara Moreau, Christopher Ching, Claudia Modenato, Will Snyder, Sayeh Kazem, Charles-Olivier Martin, Anne-Marie Belanger, Valerie Fontaine, Khadije Jizi, Guillaume Huguet, Rune Boen, Leila Kushan, Ana Silva, Marianne van den Bree, David Linden, Michael Owen, Jeremy Hall, Sarah Lippé, Guillaume Dumas, Bodgan Draganski, Laura Almasy, Sophia Thomopoulos, Neda Jahanshad, Ida Sønderby, Ole Andreassen, David Glahn, Armin Raznahan, Carrie Bearden, Tomas Paus, Paul Thompson, Sebastien Jacquemont

research_square  ·  rs-9246968

Abstract Structural variants, including copy number variants (CNVs), confer substantial risk for neurodevelopmental and psychiatric disorders (NPDs), yet whether their cortical effects relate to those observed in the psychiatric conditions they predispose to remains unclear. Here, we present the first systematic comparison of cortical phenotypes across 18 NPD-associated CNVs and aneuploidies, disorder-associated common variants, and 8 psychiatric disorders. Rare CNVs preferentially affected tota