Our Research
Funding research into the causes and treatment of autism is the primary goal of Autistica. While fifteen years ago there was only a small number of scientists working on autism research across the world, now there are several hundred.
The focus of Autistica is to use biomedical research to bring benefits to individuals and families affected by autism spectrum disorders. We are dedicated to raising funds, and investing funds, to support high-quality peer reviewed research which focuses on determining the causes and biological basis of autism spectrum disorders; improving diagnosis; and advancing and evaluating new treatments and interventions. We are committed to ensuring that increased understanding and new scientific knowledge will improve the quality of life for all those affected by autism spectrum disorders.
Autistica’s key science objectives are to discover:
- What causes autism spectrum disorders and how can we use that knowledge to ease the burden for families?
- What are the specific characteristics of ASD that are amenable and relevant to treatment?
- How can we improve early screening and diagnosis, and our understanding of how autism changes over time, in order to achieve timely and effective intervention?
In 2009, Autistica announced its first Call for Proposals to researchers in the UK to support pilot studies for biomedical research in autism spectrum disorders. As a result of this,; Autistica will be funding the following new projects in 2010.
Identification of microRNA and microRNA binding site variants increasing risk of Autism Spectrum Disorders
Dr Janine Lamb - University of Manchester
MicroRNAs are small molecules that play a role in controlling the expression of genes. They regulate the levels of about one third of the genes involved in neuronal development and function. This pilot study will examine human microRNAs (and their corresponding target genes) for novel genetic variants in a sample of individuals with autism and will address whether variations in microRNAs can substantially increase the risk of autism. This kind of research moves beyond existing research into DNA variations underlying autism risk. It may help understand the biological pathways and mechanisms underlying autism and potentially indicate new therapeutic targets and treatments.
Electrophysiological pilot studies of auditory sensory-perceptual processing in toddlers at risk for autism
Dr Joseph McCleery - University of Birmingham
This pilot study will examine brain function and development in toddlers who have an older sibling already diagnosed with an autism spectrum disorder. The project
will use electrophysiological measures (similar to EEG recordings) to examine how these toddlers’ brains respond to repeated speech versus non-speech, and which brain systems they use to process body action sounds versus non-body action sounds. The findings will be compared to toddlers without a family history of autism. The project is expected to generate robust groundwork towards a larger study to determine whether the difficulties these toddlers may have are related to differences in the way their brains process speech and/or body action sounds. Research of this nature contributes to the development of methods for early detection and diagnosis of autism and language-learning delays.
Establishing an ASD Research Family Register through UK paediatricians
Dr Jeremy Parr – University of Newcastle
This grant underpins the first stage of establishing a register of individuals with autism spectrum disorders (ASD) and their families, in order to facilitate recruitment to research studies (such registers have advanced research in other fields such as cancer and dementia). The families of children with an ASD diagnosis will be recruited by their child health teams, so that following diagnosis, and subject to informed consent, families will be invited to join the register. The register will be valuable resource for researchers and enable large numbers of children with ASD and their families to participate in research. This project represents a two year pilot phase after which the intention is to increase the number of recruitment sites from the nine pilot sites up to a national level.
A molecular and cellular analysis of mechanisms underlying cortical development in genetic models of autism
Professor Peter Kind – University of Edinburgh
Autism spectrum disorders (ASDs) have some similarities with fragile X syndrome an inherited form of learning disability. Whilst the genetic basis of autism is complex, Fragile X is caused by mutations in a single gene called FMR1. Therefore transgenic mouse models in which the FMR1 gene can be controlled and switched off / on can offer valuable insight into developmental abnormalities shared between fragile X and ASDs. This study will use mouse models to determine the critical times in brain developmental that the FMR gene is needed, how the loss of FMR gene affects brain cell types and neurological change. This type of work provides valuable insight into the point in the lifecycle when therapeutic interventions designed to rescue alterations in brain function may be most beneficial.
In funding these projects, Autistica recognises the value of increasing research capacity in the UK through routes such as:
- supporting autism-dedicated younger investigators in the first independent stages of a research career
- through encouraging established researchers with a strong track history in non-autism research to bring their expertise to bear on autism spectrum disorders
- providing infrastructure or networks (for example development of nationwide cohorts and as a platform for research activities)
There is still much work to be done, as despite strikingly high prevalence, autism research remains one of the lowest funded areas of medical research by both public and private sources.
