MINDDS: a pan-European network for research into Neurodevelopmental Disorders

When we talk about ‘neurodevelopmental disorders’ (NDD), we refer to a wide range of mental health conditions united by an overlapping biology that arises from disrupted brain development.

It is only through international collaboration and gaining a deeper understanding of what causes NDD that we can hope to develop effective treatments to manage – and one day prevent – these debilitating disorders.

NDD include everything from attention deficit and hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) to schizophrenia. Conditions can cause impairments in learning, memory and executive function, in addition to difficulties with social interaction and controlling emotions.

With 1 in 25 people affected by NDD, such disorders can put enormous pressure on healthcare systems, economic development and society. Lack of knowledge of the biological mechanisms that cause such disorders is a key challenge as it hampers development of improved diagnostics and treatments.

Impact of genetic mutations

Many factors increase risk of NDD but, from a research perspective, one of the most tangible is a substantial contribution of genetics. Over the past decade, international collaboration in genetic and genomics research has started to point to a common biology shared by these conditions. The key challenge now is to use our new genetic knowledge to understand how brain biology is altered and to develop improvements for diagnosis and treatment.

Genetics within the general NDD population is complicated because increased risk is due to the accumulation of many mutations, each displaying only a mild effect. A further difficulty is that the specific impact of the same mutation may vary from one patient to the next.

A solution to these problems is to study NDD patients where deletions or duplications of DNA segments (Copy Number Variants, CNV) have major effects on gene function. In these cases, as the effects of mutations are stronger and their associated psychiatric deficits more pronounced, it is easier to establish a direct link between a particular gene and its effects. Unfortunately, cases of these really informative NDD are rare, and a coordinated, international collaboration is needed to identify people affected by these conditions so that more comprehensive studies can be produced.

Importance of international collaboration

To achieve this, we have created MINDDS (Maximising Research Impact in Neurodevelopmental Disorders), a research network focused on identifying and studying patients with rare NDD conditions to enhance understanding and treatment in this field.

The project is supported as a European COST Action. COST (European Cooperation in Science and Technology) is Europe’s longest-running framework to support trans-national research cooperation and is supported by the EU Framework Programme for Research and Innovation Horizon 2020.

MINDDS will create a pan-European network of clinical scientists, preclinical researchers from both public and industrial centres and patient representatives to advance studies of NDD patients for these pathogenic CNV. The project aims to substantially accelerate research progress for NDD by three interlinked objectives.

First, the initiative will create an international network for building larger patient cohorts, who are willing to participate in research. To do this, it will agree a gold standard clinical patient assessment to ensure that all key relevant data is collected in the same way and that patients can easily be compared from different national sites. Furthermore, MINDDS will establish a regulatory, legal and ethical framework for effective trans-national NDD patient research cooperation and information exchange.

Second, to ensure maximum value is realised from patient-based research, MINDDS will develop standardized protocols and methods so that the same research methods are made regardless of which research centre is used.

This standardisation of protocols will include whole patient studies, such as cognitive testing and brain imaging, but also new and emerging technologies of patient-derived stem cells.

A knowledge nexus

Lastly, MINDDS will develop an overarching online resource for sharing information – a knowledge nexus. This will include a European registry for NDD patients, who may participate in future research; a research database for active researchers and an information service for clinicians, patients, care providers and parents.

For its members, MINDDS aims to bring together a community via conferences, workshops and working groups. It will train clinicians to identify and assess NDD patients with CNV, who are often children, and offer a way for them to work together to build the research cohorts.

We aim to promote understanding of NDD within the research community, creating close working partnerships between research centres, both public and industrial, and the clinical frontline and patient communities. This will be done online via the knowledge nexus, but also via support for scientific exchange visits for young researchers, clinicians and patient representatives.

Growing community

MINDDS also intends to expand its membership within Europe, and beyond, to generate the greatest geographical coverage as possible. The project’s founders span across Europe, from Ireland to Bulgaria and Romania, and we have already been joined by Macedonia and Bosnia and Herzegovina.

Beyond Europe, both Israel and Canada are network members and, by growing international participation, our hope is to create a global vehicle for NDD research.

If you wish to join MINDDS, please contact Prof Adrian J Harwood on harwoodaj@cardiff.ac.uk.