Nearly seven years ago, I made the all-important decision to pursue a future in scientific research. I was inspired by the ability of research to humble far-fetched ideas into reality, and I wanted to help uncover knowledge that would serve as an indispensable foundation for the advancement of medicine, technology and industry. Importantly, I saw an opportunity to evoke change in a way that improves lives.
As I enter my fifth year of studying the molecular underpinnings of autism, it is precisely these real-life applications of scientific research that continue to motivate me. I am grateful for the support of Autism Speaks and its numerous donors, in defending the realization that only by pushing the frontiers of science will solutions to today’s most pressing problems be found.
As an Autism Speaks Weatherstone fellow, I have been studying maternal infection as a primary environmental risk factor for autism, under the guidance of neurobiologist Paul Patterson, PhD, at the California Institute of Technology. Using animal models, we are uncovering the biological pathways that implicate infection in the development of core behavioral symptoms of autism as well as associated alterations in brain development. We are further exploring means for effective prevention and treatment, with aims to translate our findings to the identification of potential biomarkers and targets for effective therapies.
Support from the Weatherstone fellowship has also allowed us to explore the potential connections between gastrointestinal (GI) complications, immune dysregulation and behavioral symptoms in animal models for autism. We are very excited that this is now part of a larger collaborative research effort supported by Autism Speaks, with the aim of better understanding gastrointestinal GI and immune dysfunction in certain subsets of persons affected by autism.
In addition to providing financial support for my studies, the Weatherstone fellowship has given me unique opportunities to interact with leading scientists in autism research. I am truly inspired by the breadth and depth of research being conducted by my Weatherstone colleagues and by scientists worldwide. Exchanging ideas with scientists from other laboratories and disciplines greatly informs my own work.
Finally, I am deeply grateful to Autism Speaks and the Weatherstone fellowship for providing unique forums for scientists to interact with individuals and families directly affected by autism. Being able to convey the promises, obstacles and advances of autism research to the community is not only rewarding, but also very constructive. Likewise, my time with these individuals and families—time spent learning about their experiences and needs—drives my desire to conduct autism research that is innovative and informative.
With the valuable training I have received through doctoral research combined with the unique experiences I have gained as a Weatherstone fellow, I feel prepared to pursue a productive career in scientific research, with aims to uncover knowledge that will better our understanding of autism’s causes and lead to the development of more effective tools for its diagnosis and treatment.
[Editor’s note: Administered by Autism Speaks and funded by the Stavros Niarchos Foundation, the Dennis Weatherstone Predoctoral Fellowship Program encourages the most promising young scientists to choose autism research as their career through funding and direct mentoring by the field’s leading investigators.)
Read more news and perspective on the Autism Speaks science page.
Serena Hua, undergraduate at UCSD studying Neuroscience and Psychology, founder and president of Awareness and Action for Autism
My purpose in attending the IMFAR Community Conference was anything but to solely learn about the latest research on autism. That is not to say, however, that I was not guilty of clinging to the edge of my seat desperately absorbing all the mind blowing information that was being presented to me and the sea of at least 200 or so parents, doctors, researchers and teachers. Captivated I was, despite being an undergraduate here at UCSD where these kinds of exciting research surround you each and every day, I didn’t see the conference as the sole opportunity for me to dive into all that was going on in the science hemisphere of the ASD world. I was here for other reasons.
The crowd of attendees, consisting of mostly parents and professionals that work with individuals on the spectrum were, on the other hand, all here for the research and the new knowledge. I couldn’t help but notice how enthralled they were to be there, to meet other parents and, most importantly, to learn about how dedicated individuals like themselves were playing their own part in this battle against autism. They sat hour after hour, listened to talk after talk, bombarded the speakers with questions one after the other – a feat us college kids won’t even dream of accomplishing. They made every minute of this conference worth their time, ensuring that their questions were answered or at least acknowledged with a ‘good question!’ kind of response. Sitting there next to a grandparent of an ASD kid and cracking up over the diverse panel of absolutely brilliant young adults with Asperger’s, or “Aspies” as they call themselves, I found myself savoring every second of the conference.
What I remember most from the day was when Stephen Shore and John Elder Robison spoke during one of the breakout sessions about their experiences as individuals with ASD. As they were sharing their quirks and insights on the disorder, I turned to look at everyone around me, and smiled to myself. I couldn’t pinpoint why, but at that moment, I was so happy to be where I was. To me, these were people who stood for the hope that someday my own six-year-old cousin could have his own family, lead his own life, and stand for what he believed in. I felt like I wanted to shout that to the world, and I wondered if those around me were feeling the same way.
Last year, I started the Awareness and Action for Autism organization, which aims to find opportunities for college students to help out in the ASD community. My organization stemmed from the feeling of helplessness when it came to helping my autistic cousin; away from home, I could not do anything significant to support him and his family at a time when they needed support the most – and that killed me. This was my effort to do my part. Starting this club was my effort to inform those who didn’t know a thing about autism – raising awareness. I also wanted to channel other students’ desires to help into producing practical outcomes, like our Peer Mentoring Program and Journal Clubs, with goals to ultimately benefit those with ASD – that is the action part. If I couldn’t directly help my cousin, the least I could do was to try to help others.
In the end, the real reason I attended the conference was the opportunity to be in that sea of 200 passionate family members and advocates – psychologists and teachers and grandparents and the ASD people themselves. The IMFAR Community Conference was, for me, a chance to be around those who understood and cared about everything autism; it was an chance for me to be recharged and re-inspired to continue doing what I had set out on doing all along: to play my part in the ASD community.
Autism is a complex disorder. Answers will be found by taking multi-disciplinary approaches. A broad vision of autism spectrum disorder (ASD) considers how the brain develops and affects cognition, what treatments work for core symptoms, and how ASD changes over the lifespan. However, opportunities for scientists to appreciate the broad vision and diversity of approaches are unfortunately few.
This year a special 2-day conference on autism was held prior to the annual Society for Neuroscience meeting in San Diego, giving scientists an opportunity to focus on ASD and share ideas. The conference, called The Emerging Neuroscience of Autism Spectrum Disorders: Etiologic Insights; Treatment Opportunities, offered an overview of current autism research from many of the world’s leading autism researchers.
There were two strong themes in the meeting. The first was that autism research has historically studied different groups of children at specific time points. This kind of study is known as cross-sectional research. There has been comparatively little research on how children change over time, known as longitudinal research. Given that ASD is a developmental disorder which changes over the lifespan, more longitudinal research is needed. The second theme highlighted what we can learn from the incredible diversity of symptom and subtypes of ASD. Future ASD research demands a greater focus on individual differences instead of the common comparisons between averages derived from groups of individuals with ASD and typically-developed individuals.
The first session of the meeting included a review of what is known about autism risk genes. Steve Scherer, M.D. (University of Toronto) described how small variations in the number of copies of a piece of genetic code (copy number variations, CNVs) can be risk factors for ASD. These CNVs may be inherited or occur for the first time in the individual with ASD (de novo). Similar CNVs have also been identified in ADHD, schizophrenia and bipolar disorder, suggesting that there may be some common pathways underlying related developmental and psychiatric disorders. The incredible advances in genetic research, in no small part from Dr. Scherer and the Autism Genome Project, enable scientists to explore how these genetic variations affect brain development in animal models and provide clues into the underlying biology of ASD.
Declan Murphy, M.D. (Institute of Psychiatry, UK) impressed the audience with his proposal that brain imaging could be used to assist future clinicians in the diagnosis of ASD. The high costs of diagnosing individuals with ASD in Dr. Murphy’s South London community clinic motivated him to explore new methods. He used statistical methods combined with functional brain imaging to identify brain networks that may be different in adults with ASD. The use of brain scans may one day make the diagnosing ASD cheaper, quicker and potentially more accurate.
Cognition and new treatments
Day 2 of the meeting shifted focus away from biology to cognitive development and the evaluation of behavioral interventions. Tony Charman, Ph.D., (Institute of Education, London) described his study of cognitive strengths and weaknesses in a large sample of children with ASD. He argued for the importance of understanding the unique pattern of cognitive skills found in ASD to guide neuroimaging research and developing assessments of skills for early intervention programs. Dr. Charman also identified challenges in this area of research, noting that the field must address issues, such as small sample sizes and reliance on group comparisons if we are to progress.
Cathy Lord, Ph.D., (University of Michigan) showed longitudinal data collected using the Autism Diagnostic Observation Schedule (ADOS)—a tool to identify and quantify features of ASD. Her data revealed individual differences in the development of particular skills, such as eye contact, and joint attention skills, even though overall ADOS scores remain mostly constant. Language IQ remains an important predictor of children’s expected progress. Perhaps in the future, the ADOS diagnostic tool can also be used to monitor the long-term benefits of interventions.
The final two sessions focused on interventions. Fred Frankel, Ph.D. (UCLA) presented data from new interventions in friendship training. Judith Reaven, Ph.D., (University of Colorado School of Medicine) showed her data on cognitive behavioral therapy for anxiety in ASD. Aubyn Stahmer, Ph.D., (Rady Children’s Hospital, San Diego) evaluated the use of an integrated intervention model in community settings. Sally Rogers, Ph.D. (MIND Institute) concluded this session with a summary of the challenges in developing good outcome measures for intervention studies.
The last session summarized the evidence behind pharmacological treatments for ASD. One of the real challenges for behavioral pharmacologists is how to identify drug treatments for core social and communication skills. Currently only two drugs are approved for treating irritability in ASD. Several other drug treatments have been tested in clinical trials with minimal or no evidence for their effectiveness. Individual differences and variation in symptoms over time make finding treatments for the core symptoms of ASD like trying to hit a moving target.
Putting it all together
David Amaral, Ph.D. of the MIND Institute and current president of the International Society for Autism Research, summarized the meeting by focusing on autism research ‘Promises and Pitfalls’. On the positive side, he noted a dramatic rise in research, supported by increases in public and private funding, such as the major contribution by Autism Speaks. As for pitfalls, Dr. Amaral underscored the significant variability among individuals with autism that must be recognized if research results are to be meaningful. He also encouraged the continuation of brain research across the lifespan acknowledging age-related changes in brain development and behavior over time.
Progress in the field of brain research will require an on-going partnership among people with autism, families and researchers. We are both optimistic about progress and impatient to find answers. We all look forward to IMFAR 2011 in May when autism researchers return to San Diego with a broader perspective and new insights.