We still know very little about the human brain. With an estimated 100 billion neurons (nerve cells) in the human brain, scientists grapple to understand what these neurons do, how they interact with one another and how they make us who we are. It is therefore not surprising that we are still some way from fully understanding the human brain, and more significantly the autistic brain and why its development is altered. There are many scientific approaches that can be used to visually inspect the human brain, such as magnetic resonance imaging (MRI), but only one way of directly studying the human brain – and that is by looking at post-mortem brain tissue. For this very reason, brain tissue is a critical element in the process of neurological scientific discovery. Unfortunately, tissue donation remains rare, hindering the very research that will help us to understand autism.
The Autism Tissue Program (ATP), a Scientific Program of Autism Speaks, is dedicated to supporting scientists worldwide in their efforts to understand autism, autism related disorders and the human brain. The ATP is a tissue based repository (bio-bank), among only a few worldwide, that makes brain tissue available to qualified scientists in order to advance autism research.
In an effort to improve the worldwide availability of tissue-based resources in autism research, Autism Speaks has been seeking to expand its efforts by establishing sister programs in other countries. In 2009, Autism Speaks partnered with UK charity Autistica in creating a 2nd bio-repository based at the University of Oxford in the United Kingdom (UK). There are already 15 brains that have been donated to this tissue bank and, in addition, awareness of the importance of brain donation for autism research within the British autism stakeholder community and general public has increased enormously.
The Medical Research Council (MRC) – the UK’s equivalent of the NIH – has recently formed a network of UK brain banks, including the Oxford autism bank as a key member. This new infrastructure will be a vehicle for facilitating the awareness of the need for autism tissue collection as well as the donation of tissue from controls (individuals who have no underlying neurological or psychiatric disorder) and related neurodevelopmental disorders (e.g. Fragile X syndrome). By encouraging international collaboration and the establishment of a bio-bank network, we can increase the numbers of donations of this precious resource and build the capacity needed for research in this field.
Autism Speaks’ staff recently visited the brain bank in the Netherlands to explore new collaborative opportunities. Due to their geographical size and national organization, the Netherlands have a unique resource in that all brain donations are sent to a single bank based in Amsterdam. This streamlined system enables a higher rate of tissue donations and the administration is relatively straight forward. With the support of the Dutch autism research community and our partners at the Netherlands Autism Society we are hoping that the Netherlands Brain Bank could soon begin collecting autism tissue. Similar opportunities are also being explored in Sweden and Canada.
We are making great strides in scientific discovery and the last few years have seen significant advances in the genetics of autism. More than ever this highlights the importance of using autism tissue collections to explore how genetic differences in people with autism affect the cellular and molecular development of the brain. In turn, these research investments will guide the development of new pharmacological treatments for people with autism to alleviate some of the core and secondary symptoms. With more than 100 research publications resulting from the efforts of Autism Speaks, The Autism Tissue Program, Autistica, and most significantly the brains generously donated by families, we are off to a promising start.
To learn more about brain donation please visit the ATP at www.autismspeaks.org (1-877-333-0999) and UK Brain Bank for Autism & Related Developmental Research at www.brainbankforautism.org.uk (44 0800 089 0707).
“Got Questions?” is a new weekly feature on our blog to address the desire for scientific understanding in our community. We received over 3000 responses when we asked what science questions were on your mind. We answered a few here and the Autism Speaks Science staff will address the other themes we received in this weekly post.
Evidence suggests that autism knows no cultural, ethnic, or geographic boundaries. It affects 1 in every 110 children (or about 1% of children) in the United States and converging research findings from around the world suggest that autism may affect 1% of the global population. However, most autism epidemiology studies to date have taken place in select areas of relatively developed nations and communities and have used strikingly different study designs that complicate comparison across studies. Further, very little is known about the occurrence of autism in low-resource territories with limited to no public health capacity and infrastructure. By working to address these barriers and to facilitate well-designed epidemiology research around the world, investigators can begin to answer questions surrounding the occurrence of autism globally.
International research can help address questions regarding the causes of autism and changes in its occurrence rates over time. Specifically, by comparing autism prevalence across nations, researchers can generate clues about the involvement of genetic risk factors or environmental exposures. International studies create opportunities to study autism in different ethnic groups, in special populations (e.g., those that are genetically closely related), and among populations with specific or uncommon environmental exposures (e.g., certain pollutants) not found elsewhere.
Additionally, some nations have special resources, such as health registries and surveillance systems that can generate large datasets and make previously impossible studies on the causes of autism possible. Autism Speaks is currently supporting the iCARE project which combines data from Norway, Sweden, Denmark, Finland, Israel, and Australia to investigate pre- and peri-natal risk factors for autism.
Just as autism’s high prevalence rate drove its emergence as a public health priority in the United States, children in nations around the world will benefit when their governments recognize that autism is not a rare disorder. Epidemiology research can help increase awareness about autism and help government agencies develop informed policies regarding care of individuals and families with autism and other developmental disorders within their country.
In addition to epidemiology, it is vitally important to investigate additional areas relevant to public health research and dissemination. Specifically, understanding the economic impact of autism can help researchers and advocates gauge the impact of autism on societies, including the quality of life of affected individuals and families. Equally important, this information can serve as a means to promote increased access to low-cost and widely available services, such as through healthcare insurance reform in the United States. Additionally, the impact of early diagnosis and early intervention on the economic burden of autism can be assessed to further make the case for increased service support to both general and underserved populations in the U.S. and aboard.
International autism research will not only shed light on the scope of the autism challenge around the world but will also serve to raise global awareness of autism. As this increased awareness can help galvanize communities, epidemiologic findings have the potential to influence government, public health agency, and medical organization policies and practices, thus benefiting previously underserved communities. In low-resource countries in particular, these efforts will function to enhance the infrastructure and capacity necessary for ongoing autism research as well as for services. International research may also help uncover previously undiscovered genetic and environmental factors that contribute to the development of autism spectrum disorders, thereby further benefiting the scientific community and ultimately, affected individuals and their families.