Genome research reveals that people with autism and those who suffer from attention deficit hyperactivity disorder share alterations in the same genes.

• A study carried out in Denmark by researchers from iPSYCH confirms that in autism and ADHD there is a greater presence of a specific type of mutations that are concentrated in the same genes in both disorders. This points towards them sharing the same biological mechanisms.
• The exome sequencing of a group of 13,000 children with either autism or ADHD, with both disorders and without any disorder, has enabled genes that contribute towards their development to be identified, helping to expand the study and knowledge of these disorders.

People with autism and those suffering from attention deficit hyperactivity disorder (ADHD) share a genetic connection. This was the conclusion of a study carried out in Denmark in which the exomes of approximately 8,000 people with autism and/or ADHD, and 5000 people without either of the disorders were mapped.

The study, carried out by the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), confirms that there is an association between the two disorders linked to variations in the same genes. The genetic connection between the two disorders had already been discovered previously, the results of this study confirm the evidence and show that in both disorders there is a similar quantity of mutations that give rise to truncated proteins (defective proteins that do not carry out their function correctly). These are concentrated in specific genes, suggesting that the biological mechanisms involved are shared.

The most relevant finding is the significant relationship between the MAP1A gene and the development of autism and ADHD. This gene is fundamentally expressed in the brain and is involved in the formation of the physical structure of the nerve cells and is important for brain development. Mutations in MAP1A significantly increase the risk of developing autism and/or ADHD. This risk is up to 15 times greater than in people without mutations. 

One of the keys of the study lies in the use of whole exome sequencing, which enabled the interactions and similarities between different genes to be identified. These are impossible to find in tests based on very small gene panels.

“The exome offers a comprehensive view of our genes – explains Bibiana Palao, CPO (Chief Product Officer) of Veritas Intercontinental – and it constitutes a key tool in the research into rare disorders where shared biological mechanisms are suspected, since it facilitates the discovery of new genes and variations in which the contribution of each gene to different pathologies can be observed”.

Since its foundation, Veritas has driven whole genome and exome sequencing, not just for patients with suspected hereditary conditions, but also for healthy people with the aim of expanding knowledge about the relationship between our health and our genetics. This initiative will enable a virtuous circle in healthcare to be closed, in which the greater the number of people who have their genome or exome sequenced, the more valuable and easily extrapolated the information available will be for the prevention as well as the diagnosis of diseases.

About Veritas Intercontinental

Veritas Intercontinental is the subsidiary of Veritas Genetics, The Genome Company, which operates in Europe, Latin America, Japan and the Arab Emirates. Its mission is to promote whole genome sequencing and offer people information that empowers them to maximise the quality and duration of their lives and those of their families, changing the way in which the world understands genetics.

Veritas was the first company to offer whole genome sequencing and interpretation to consumers and their doctors and leads the field of genetics, expanding the limits of science and technology and reducing the cost of the genome.

Founded in 2014 by leaders in genomics from the Harvard Medical School, it operates around the world from its offices in the United States, Europe and China. The company has been recognised by MIT Technology Review as one of the 50 Smartest Companies in 2016 and 2017, by Fast Company as one of the Word’s Most Innovative Health Companies in 2018, and by CNBC as one of the Disruptor 50 companies in 2018 and 2019.