SPARK, also known as Simons Foundation Powering Autism Research for Knowledge, is the largest genetic study of autism. The mission of the research project is to speed up research and advance our understanding of autism to help improve lives. SPARK has recruited 28,927 families for the study with 31 clinical sites in the United States and about 100,000 people with autism. Due to the large size of the SPARK study, almost all of the genes that are responsible for autism could be identified. Currently, the SPARK gene list consists of 157 identified single genes and 28 copy-number variants (repeated sections of the genome). The SPARK gene list includes numerous genes and copy-number variants that have well-established, persistent evidence that they are affiliated with autism.

I recently had the wonderful opportunity to interview Dr. Wendy Chung, the director of clinical research at SPARK and a supervisor of education in human genetics at Columbia University Medical School as well as a Kennedy Family Professor of Pediatrics in Medicine. By managing the research study of autistic individuals, Dr. Chung evaluates opportunities to advance new treatments for autism spectrum disorder and leads the effort by working with individuals with autism and their families to increase understanding of autism and its causes. Additionally, Dr. Chung created the DISCOVER (Diagnosis Initiative: Seeking Care and Opportunities with Vision for Exploration and Research) program. She has discovered 41 diseases and has earned many awards for her renowned research, such as the American Academy of Pediatrics Young Investigator Award and the Medical Achievement Award from Bonei Olam.

Q. How did you become interested in autism research and eventually through SPARK?

A. I am a pediatric geneticist and a lot of patients who come to see me have autism or other neurodevelopmental issues, making it a big part of my practice. The more I met with patients, the more I realized there is so much information about the disorder we do not know. We need to fill in those gaps. As a clinician and a researcher, I need to be able to push my gathered information from my patients forward and SPARK was the perfect group to do that.

Q. What would you say to a family with an autistic individual who is considering to be a part of the SPARK genetic study?

A. When I think of individuals with autism, it is one broad label in terms of who it encompasses. It is also very broad because when I think of this, we are thinking about the whole life course; experiences when you are two are going to be different when you are 20. So challenges and opportunities are different along the life course, also depending on your geographical location and local resources. Even though every individual is labeled with autism, the term is not a one-size-fits-all explanation or understanding. When we think about how to diagnose and understand autism better, we have to gather data on a larger scale with larger amounts of individuals. Larger amounts of individuals will help to understand certain parts of the spectrum (due to autism’s heterogeneity) or specific age distributions.  You can’t have 12 people, you need about 120,000 people. There are enough people throughout the United States to help answer the questions that SPARK seeks to answer, however the study requires everyone to pitch in. It takes a massive community effort to answer the questions. We have to start someplace.

Q. What makes SPARK an innovative and different method to research autism?

A. Inherently, I trust people. I trust people who are in SPARK in the sense that other studies for example have said “Well maybe we have to do this detailed evaluation to see if someone has autism.” I have the opinion that people know their diagnosis and if you tell me that a professional such as a psychiatrist or pediatrician confirmed the diagnosis of autism, I trust they know what they are doing. Rather than spending huge amounts of money or bringing people to a site where we have to do day-long testing, people can send in saliva samples to SPARK with the notion that they have received a proper diagnosis, making it an efficient testing process. 

Q. How can young researchers like me advocate and contribute to autism research?

A. Everyone has something different that they are good at and so at the very least what I hope everyone does is contribute in terms of their ideas about what is important. There is definitely diversity and I don’t think there is a right answer to this but everyone should contribute to the important questions and priorities. 

Q. There is no cure for autism, however as time goes on, more treatments become available. What do you think is key when treating a child with autism?

A. The one thing that I think is most important is early recognition and early support. With that, some people are lucky to have both parents, doctors, and teachers that are either insightful or just experienced - or a combination of the two - and who are able to help. Once you recognize the disorder in a child early, I think we have educators, behaviors, and other people who can help people to learn other ways to adapt. I have to say with some individuals with autism are easier to help than others. The roadblock for some autistic individuals isn’t a big one and you can simply drive around it but others have a roadblock like a massive boulder.

Q. Rather than genetic mutations, could DNA or histone methylation contribute to the lack of expression of genes in an autistic individual?

A. That’s a very good question. So, the answer undoubtedly is yes. In fact, some of the genes that we know are different in individuals with autism are those genes that are responsible for that methylation or those histone modifiers. There are also definitely cases where genetic mutations/changes are not present during birth but arise due to alterations in the environment or exposure after birth.

Q. While I was watching your TED talk, you mentioned that the prevalence of autism is higher in boys than in girls with a ratio of about 4 to 1. Could this potentially be due to the higher level of maturity younger girls have, therefore having a stronger ability to mask the characteristics of what puts them on the spectrum?

A. We have definitely been wondering about this for a long time. Some people use the term, “can females camouflage,” “can they compensate,” “can they adapt”. There is a lot of work that is going on not just to understand autism but to also understand sex differences: what is different between females and males as it relates to autism. A lot of that is due to nurture or how females are brought up and how they learn social skills and interactions. So, I do think there are differences in that domain. Some of the feelings people keep inside are also expressed outwardly differently. Females tend to internalize things, while males tend to externalize things. Females may keep things to themselves while boys throw more tantrums and grow frustrated.

Q. You’re such an inspirational role model for female researchers in the neuroscience field. As an influential figure in the scientific community, what do you have to say to young girls who are interested in STEM?

A. Well, this is a very important question. This I have very strong feelings about. Overall, I think that there are a lot of females that have so much talent and sometimes don’t feel so secure in those talents. The number one thing is to believe in yourself! Number 2 is to find yourself a mentor, which can be a male or female but sometimes females know where you are coming from. As you study what you are interested in, make sure you know your perspective and ideas are very important. I say as a woman in STEM that many of us are very interested in seeing girls like you succeed.