Launched in January 2020 and funded by the EU Programme Horizon 2020, this 4-year project is following a trail of rare and common genetic variants that are shared in many neurodevelopmental disorders and the possibility that immune dysregulation and microbiome at some point plays a role. The insight could point to personalised treatment and a drastic reduction in suffering for people with neurodevelopmental conditions, including autism spectrum disorder.
Neurodevelopmental conditions, such as autism, attention-deficit hyperactivity disorder (ADHD), and intellectual disability (ID) are clinically heterogeneous, often co-exist and they affect ~15% of the European population. They are also often associated with somatic illnesses (e.g. epilepsy, autoimmune and gastrointestinal disease) which can have a strong impact on the quality of life. The combination of ID and epilepsy in autism, for instance, is associated with a reduction in lifespan of ~ 20 years.
Currently, we lack effective new treatments for neurodevelopmental conditions and do not understand why they co-exist. There is hope, however. Recent evidence shows that certain genetic variants, which increase the risk for neurodevelopmental conditions, are shared between these conditions and affect the same biological pathways. Many of these variants impact synaptic plasticity (activity-dependent modification of synaptic transmission) and glutamate and GABA neurotransmission (i.e. excitatory and inhibitory (E/I) balance). The symptom profile and severity are likely also moderated by environmental factors acting at different time points (critical periods).
Therefore, we are also investigating the role of early maternal immune activation and the gut microbiome. The interaction between host genetics and gut microbiome could clarify why carrying certain risk-conferring genetic variants only explains a part of the different symptom spectra that we see in neurodevelopmental conditions.
Our overall goal is to improve the understanding of the crosstalk between genetics, immune activation/ inflammation, and microbiome, and thereby provide a compelling novel conceptual framework to:
- Elucidate the causal mechanisms that underlie autism, ADHD, ID and epilepsy
- Develop new strategies for prevention and treatment of autism, ADHD, ID and epilepsy
- Deliver novel biomarkers to guide early diagnosis, stratification and treatment monitoring
- Open-up new avenues for research in autism, ADHD, ID, and epilepsy
This will ultimately benefit people with neurodevelopmental conditions, improving their long-term outcomes.
Sixteen partners of Germany, the UK, France, Belgium, the Netherlands, Sweden and Switzerland are closely collaborating in this international research programme, coordinated by Radboud University in the Netherlands. Autism-Europe co-leads the work in Dissemination, Communication, Exploitation and IPR; and contributes to Ethics and Training.
About Horizon 2020
Horizon 2020 is the biggest EU Research and Innovation programme ever with nearly 80 billion euros of funding available over 7 years (2014 to 2020) – in addition to the private investment that this money will attract. It promises more breakthroughs, discoveries and world-firsts by taking great ideas from the lab to the market.