Dr. Guoping Feng joined the McGovern Institute for Brain Research at MIT in 2010. He is a faculty member in the Department of Brain and Cognitive Sciences, where he holds the Poitras Professorship of Neuroscience. He is also a senior scientist at the Broad Institute’s Stanley Center for Psychiatric Research. Originally from Zhejiang Province in China, he received his PhD from SUNY Buffalo. Before moving to MIT, he was a faculty member at Duke University. He has won numerous awards, including the Beckman Young Investigator Award (2002), the McKnight Neuroscience of Brain Disorders Award (2006), the Hartwell Individual Biomedical Research Award (2006) and the Gill Young Investigator Award (2012).

E Tavares: Dr. Feng, thank you very much for being with us today. Over the years you have closely studied important brain conditions, including autism. What has been the primary focus of your research work in this area?

G Feng: I study how neurons communicate with each other. In the human brain we have an estimated 80 billion neurons which do not function autonomously. This makes the brain very different from any other organ. Neurons have to communicate with many other neurons in order to form a functioning circuit that controls almost all of our behavior, thoughts and memory. You can imagine that this is a building block in understanding how our brain functions.

In the last 10 years, large scale human genetic studies have pointed to genetic mutations in genes that are important for building up those structures enabling neuron-to-neuron communications. In addition to studying how neurons communicate and what molecular and cellular mechanisms regulate such communications we are interested in finding out how defects in neuron-to-neuron communications can cause or contribute to neurological and psychiatric disorders.

One of the focus areas of my research is autism. Many of the human genetic studies show that many genetic mutations that either cause or contribute to autism are very important for the normal development of the neuron-to-neuron communication. I am particularly interested in very severe forms of autism because the families and kids impacted by this are suffering a great deal and there isn’t any effective treatment. We are hoping that through the study of their mechanisms we can identify targets or ways to create a treatment in the future.

ET: Autism is a very challenging condition, debilitating a human being during the entirety of his or her life, often severely as you just mentioned. Can you provide a sense of how many people have been diagnosed in the US and internationally recently? And how this has changed, say, over the last three decades?

GF: Current estimation of the population diagnosed with autism is a little over 1%. In the US and Europe there are a lot of studies that confirm this level, much more than in other countries. There are some important cultural differences in this regard. In the US people are much more willing to come forward when symptoms emerge, not least in order to get some government assistance. But there is still a stigma in many countries, especially in Asia, with some shame associated with a kid having this condition.

So while international comparisons become very challenging the general idea is that 1% of the population is diagnosed with this condition. Now, over the last three decades that percentage has dramatically increased and people understandably ask why?

The consensus is that most of this increase is because of change in diagnostic standards and awareness. For example, people looked at clinically published data forty or fifty years ago and found that while only a small portion had been diagnosed with autism many were diagnosed with other neurodevelopment disorders. In other words, the latter today might have been classified as autism instead.

ET: Are you saying that it was the accounting and awareness which have primarily accounted for that explosion in autism rates? As such, no major contributing environmental factors?

GF: I am not saying that. The first part is mostly related to diagnosis. The second part, the environmental part, has also been inputted in the studies. For instance, if parents are older their kids have an increased risk of developing autism. It’s a small yet statistically significant factor.

Other factors are much more difficult to control in studies so everyone will have different opinions. Anything that increases mutation carries the risk of increasing autism. Right now studies show that genetics play a very important role in this condition. There are several types that can have an impact. There are new mutations that happen in the parents’ germ cells, that is, in the sperm and eggs. You also have mutations passed along by those parents, which we all have but certain combinations can create problems.

So anything that increases the chance of these mutations could potentially and theoretically increase the risk of autism. However, statistically this is much more difficult to prove because it is a very small effect and it is a long term effect, so very difficult to isolate and do a well-controlled study.

ET: There is a lot of discussion if vaccines could be a contributing factor to those mutations. There are some compelling documentaries which detail some very concrete – and concerning – examples. For instance, in one film there was a mother with baby twins where one got a certain vaccine but not the other by chance, and the one that was vaccinated developed symptoms shortly thereafter. Are these reliable data points or just anecdotal evidence?

GF: This is all just anecdotal evidence. For science you need numbers that prove that there is a link, that there is real evidence. Anything can happen for any reason. In the case of non-identical twins as an example, if one develops autism the chance of the other developing it is small. On the other hand, with identical twins if one develops the symptoms the other has a 60 to 80% chance of following suit. So it’s not 100% even if you have identical DNA.

As you live your life every day a lot of things can happen and the only variable that matters is not just the vaccine. So far all the studies have shown that there is no direct link between autism and vaccination since most establish a connection with genetic factors. Now, this doesn’t mean that it’s all genetics. Environmental factors can contribute but most likely you need some genetic predisposition that can make it happen when combined with those factors.

ET: A colleague of yours at MIT, albeit in a different department, suggests that there is a link between some types of pesticides and autism. However, your work hasn’t found any such evidence correct?

GF: No, no evidence whatsoever. I’m a molecular cellular neurobiologist. I need solid evidence. People can say whatever they want to say but the bottom line is: show me the data. If there is no large scale data supporting it, I don’t believe it. I’m a scientist, I speak with data; no data, it’s bullshitting. Period.

ET: The issue is that this is such a sensitive, complex topic and parents are understandably very anxious. One of the famous Kennedy brothers recently went on Fox News advocating that more research is needed to understand if indeed there is a link between autism and vaccination. The key question is, who can people trust? You made the argument very clearly, trust the data. But we live in an environment now where everybody mistrusts the government, the corporations, academia and so on.

GF: In the US no matter what happens we have academic freedom to do research, even right now. As a scientist, anyone studying autism has no benefit to prove one way or another. We only want to find the truth. Whether or not it’s linked to vaccines we don’t have a preference because we don’t have a dollar in that fight. We want to find the truth. That’s the only thing I care about, to find the cause so that I can find a treatment or a cure to help these kids. Nobody can prevent us from publishing our findings.

The fact is that there isn’t enough data to support any of these claims. Now, I agree that we should do more controlled rigorous research. But there are many good places that do this kind of work, especially in Northern Europe. From the time they are born, they have every kid’s blood samples, DNA material, immunization record and every single diagnosis until they become adults. That’s more than twenty years of data collections. If there is a strong evidence this would have been revealed a long time ago.

It’s not a difficult problem. But you can’t convince everyone if people don’t look at the data. I’m a scientist, I only believe in data. If you don’t believe in data you are not a scientist. It’s that simple.

ET: If you are saying that autism affects 1% of the population now, and even if it has risen exponentially in recent decades that’s because of accounting and awareness, does this mean that a decade from now autism will still affect just 1% of the population?

GF: Most likely, unless we dramatically change the diagnosis. Now, it’s not a given that the diagnosis standards will not change because right now we diagnose all mental illnesses by their symptoms, and these symptoms are not uniform. We say that you see one autistic patient you see one autism. This means that every single patient is very different. And so the diagnosis can change as our knowledge and genetics work progresses. As a result, we could see a slight increase or decrease, depending on how you give a diagnosis.

ET: Are there any medical breakthroughs you see in the horizon? Can people regain some level of normality, at least in the milder cases?

GF: I think so. In the last decade with a lot of support from the federal government, donors, foundations and so forth, as well as parents groups, autism is the one research area in mental illness that has made the most significant progress. The genetic findings provided a very useful basis to study that mechanism.

In ten years it’s very possible that you will have clinically available treatments. One area where we are getting much better is in understanding what each symptom is. Some patients have compulsive behavior, some have sensory overload, some have social interaction deficit, some have insistence for sameness, some cognitive inflexibility and so on. Figure out the neurobiological basis then you can identify targets that can address such individual symptoms.

These are probably the first line of medicines coming out because we understand them better. These will focus on individual symptoms, particularly on debilitating symptoms. For example, some kids have sensory overload. If you can solve that you can dramatically improve their lives even if they will not be cured from autism. We understand much better how the brain circuits work in order to control this type of behavior, so we may have much better near-term success here.

Now, will we have a cure for autism soon? No, we are far away from that because each of the changes in the genetic condition of the patient affects many areas. That’s why they are so variable and there are so many individual problems with autistic kids, especially when they have severe forms of it.

Some of our brain you can change, even as adults, but other parts when the development is complete you cannot. As I mentioned earlier brains are not like other organs; the cells don’t function autonomously. Once they are wired past a critical period they cannot be rewired so easily. So we try to find the defect as early as possible and the goal is to either rewire when it’s still possible or prevent the wrong wiring from happening.

That’s really the only way to cure this disorder. One way is to do gene therapy. For a significant minority of cases we know what gene mutations they have. With the development of genome editing technology it’s possible that we create ways to correct those mutations. If it’s done early enough then you can correct most of the problem, at least as shown in animal models so far. This is one of the approaches that has a lot of potential. The other way is to go in as early as possible and as a result prevent a lot of later defects from happening. Many scientists are working on both of these approaches.

ET: Is there anything that parents can do to prevent this condition, presumably regarding environmental factors? You mentioned that having kids later increases the risk so there’s one possibility. Anything else?

GF: Right now I have no clue. Nobody knows what we can do to prevent autism. I cannot recommend anything for environmental factors because we don’t have certainty that one thing causes another.

There are people suggesting that some known extreme forms of autism can be prevented. For example, if you know that one parent has a certain genetic mutation you might prevent it by doing IVF to select the good eggs to implant. Other than that we don’t have a clear picture of what environmental factors can actually increase the risk of autism.

ET: Still, you remain upbeat in light of the recent scientific progress.

GP: Genetics can contribute significantly to further our understanding of autism. Whenever we publish a study, even if conducted on animals, we often get calls from parents looking for treatment, which shows how much anxiety is out there, understandably. I feel very optimistic that in the next decade we will have significant progress, even breakthroughs, in the treatment of at least some groups of patients.

ET: Amen to that! It would be an amazing contribution to Humanity. Thank you very much for sharing your insights. We wish you all the best, keep up the excellent work!

GF: Thank you. People need to know that many of us are working hard every day and night to solve this problem.

This interview was first published by Erico Tavares on Linkedin Pulse and is republished with permission. You may not use, copy, distribute, publish, syndicate, sub-license and transmit the whole or any part of such material in any manner and in any format and/or media without the permission of the original publisher.

Link to the original article: https://www.linkedin.com/pulse/autism-interview-dr-guoping-feng-erico-matias-tavares/.