Dr. Lorna Lopez:

In regard to engaged research, autism is a neurodevelopmental condition. It is multifactorial. We know that genetics has a significant role. Research discoveries to date have identified genetic causes of autism of up to 20% of cases. Ongoing research, using a technique called whole genome sequencing will continue to identify more genetic causes. This is one focus of my family genomics research. This has real significance for patients at the moment. Children can be screened for genetic variants and given genetic diagnosis in clinic. Genetic diagnosis offers an explanation and more understanding for families about their child’s condition. There are of course still gaps in our knowledge. Many researchers are working hard to understand what these genetic changes mean, especially over the longer term, for prognosis.

Genetics research has also led to more understanding about the condition, such as sleep disturbances. This is another key focus of my FamilySleeps research. There are international research efforts to look at the interdependent roles of sleep and our biological and circadian rhythm disruptions in the development of symptoms.

A third opportunity for research is in the area of new drug discovery and clinical trials. Huge efforts are ongoing globally to try to find new drug therapies for autism and other neurodevelopmental conditions. Clinical trials are ongoing. The European AIMS-2-TRIALS consortium was established to identify biomarkers for precision medicine and to set up a European infrastructure for clinical trials. As part of AIMS-2-TRIALS the Eager Project has been set up, which is an autism and neurodevelopmental condition registry that will help to identify autistic people to participate in clinical trials as new drugs are discovered.

The voices of autistic people are represented in this research. There is not always agreement but there is healthy dialogue. At a European level for example, AIMS-2-TRIALS has an active engagement group of autism representatives. In Ireland, PPI Ignite drives excellence in this space and provides education and support to researchers including my research group which has a public and patient involvement, PPI, panel as well.

This kind of research can be slow and expensive. However it is important and this support is crucial to involving the autism community in the formation of research agendas, research priorities within an engaged research framework. To realise the benefits of autism research, we need greater integration of research and clinical care. This is urgent in the age of precision medicine, which is focused on the right treatment for the right person at the right time. Over the course of my career, my work have greatly benefited from close alignment of the clinician, clinical researchers with transdisciplinary technical experts, including lived experience experts, with significant support from Irish and European funding agencies. Our next challenge as researchers is to ensure that our autism genomics research creates a future for autistic people and their families within a research-led learning healthcare system and to take advantage of new opportunities such as our new national strategy for accelerating genetic and genomic medicine in Ireland, and to do this while ensuring the voice of the public is heard.