Insight into Genetic Variants that Alter Brain Development

Almost 3000 scientists from 193 institutes have shared results from analyses of genetic data to provide insight into the causes of variability in human brain development.
The international study included researchers from the Centre for Healthy Brain Ageing (CHeBA) at UNSW Australia. Reported in Nature this week, the identification of five genetic variants that influence the size of structures within the brain may help determine the genetic processes that underlie neuropsychiatric diseases.
Genetic data and MRI scans  was collected from more than 30,000 individuals, including data from CHeBA’s Sydney Memory and Ageing Study and the Older Australian Twins Study.
CHeBA’s Co-Director Professor Perminder Sachdev said that the study focused on the portions of the human brain known as the subcortical regions, which are associated with movement, learning, memory and motivation.
“This study is the triumph of international collaboration, with data contributed by over 200 investigators that brought together 50 cohorts from all over the world. ” Professor Sachdev said.  “It represents the next phase of medical research in which biomedical scientists, much like physicists, work collaboratively on problems too large to be solved by individual researchers”.
“One of the identified genetic variants confirms a previously established influence on the volume of the hippocampus, a key region in forming and storing memory.  What is novel is the discovery of 5 genes that influence the volume of the putamen and caudate, two key structures in the regulation of movement and emotion.”
By collaborating internationally, the researchers were able to share and compare data from existing studies, allowing systematic examination of the brain on a larger scale and comparison across different geographical and ethnic groups.  Another Australian centre that contributed data was the QIMR Berghofer in Brisbane.  Researchers at NeuRA were also involved in the data analysis.
Professor Sachdev said that CHeBA leads a number of international collaboration efforts to expedite the challenge of understanding of brain biology, particularly in relation to age-related disorders such as dementia. This paper marks the beginning of a number of exciting developments in the genetics of the brain and neuropsychiatric disorders.
The study has been published today in Nature:
http://nature.com/articles/doi:10.1038/nature14101