Ethics, Genetics, and Autism: A Conversation with Dr. Joseph Cubells

Dr. Joseph Cubells

Dr. Joseph Cubells is an Emory psychiatrist who focuses on working with adults with developmental and behavioral disorders, especially Autism Spectrum Disorders (ASD). He is on the cutting edge of using molecular genetics to identify genetic anomalies in his patients with the aim of improving and refining treatment packages. I spoke with Dr. Cubells about his work and the ethical implications of the use of genetic microarray tests with patients. After providing more details about how he uses molecular genetics in his practice, I will focus on our discussion of two primary issues related to his work: (1) the communication of genetic testing procedures and results to families and, (2) the role of health care systems in the widespread use of these tests. 

Dr. Cubells is primarily engaged in clinic work. He has over 200 cases and works exclusively with adults (he does not see patients under the age of 16). Molecular genetics is one technique used in his patient management strategies: “I am very interested in the role of molecular genetic testing in the care of people with neurodevelopmental disabilities. Not so much establishing a diagnosis of autism though because autism is a behavioral diagnosis.” In other words, because there is no genetic or otherwise biologically based test currently available for autism, Dr. Cubells and his team are interested in diagnosing other genetic differences, such as Phelan McDermid Syndrome which occurs when a chromosome is deleted after conception (de novo) and can lead to a variety of physical and developmental disabilities. This condition, and many other genetic anomalies, may contribute or directly lead to the development of autistic characteristics. Most professionals, including myself and Dr. Cubells, now agree that there is not a single ‘autism’ but, rather, many different ‘autisms’ with many different causal pathways, both genetic and environmental.

Can free will be modulated through electrical stimulation?

The will to persevere when many of life’s challenges are thrown at us is an ability that comes more naturally for some than for others. Additionally, even the most determined among us have days and times when moving forward through a challenging task just proves too difficult. The subjective nature of this experience can make it difficult to study, but recently researchers from Stanford University published a case study where electrical brain stimulation (EBS) to the anterior midcingulate cortex (aMCC) left two patients with the feeling that a challenge was approaching, but also that they could overcome it [1]. For the most recent journal club of the semester, Neuroscience graduate student and AJOB Neuroscience editorial intern Ryan Purcell led a discussion on the experimental procedure to stimulate what is referred to as the “the will to persevere” and the effect this technology may have if it were to become more mainstream in society.

"The location of the electrodes in P1 and P2 overlaid onto the standard emotional salience network derived from a group of normal human subjects." Parvizi et al.

Lamarckian sh*t? Why epigenetics is not eugenics

An argument could be made that communicating scientific advances to the public has never been more important. As the NIH budget stagnated, and then was cut by Sequestration, many of us have realized what a poor job we have been doing convincing the public of the importance of basic science research. Neuroscience itself has been under more scrutiny recently. As Adam Gopnik of The New Yorker wrote in a review of three new books bashing brain research, “Neuroscience can often answer the obvious questions but rarely the interesting ones.” If that is the way that the public sees it, then clearly we are losing something in translation. Recently there has been a push to reverse this trend and reaffirm biomedical research as a source of inspiration and hope for the public. The actor and author Alan Alda, who has long held a passion for science, has made it a personal mission to improve communication about science because “How are scientists going to get money from policy makers, if our leaders and legislators can’t understand what they do?”¹

Late last year, Brian Dias, a postdoctoral fellow in Kerry Ressler’s laboratory at Emory, found out just how difficult communicating his work to the public can be. Dias and Ressler had been working on testing whether olfactory fear conditioning would transmit a sensitivity to the conditioned odor across generations. That is, using a mouse model they were exploring whether an experience in your lifetime could affect your children or grandchildren’s response to their environment. They studied the olfactory system because it is extraordinarily well-mapped (thanks in large part to work that Dr. Ressler did in Nobel Laureate Linda Buck’s lab as a graduate student) and shows gross structural changes in mice when they learn to associate an odor with an unpleasant experience¹. Recently, there has been a great deal of interest in understanding how an organism’s environment can affect the way in which genes are expressed via a phenomenon call epigenetics.

Epigenetics refers to chemical modifications to the genome that do not affect the DNA sequence itself. Normally, the DNA molecule of each chromosome is tightly packed in a highly complex yet orderly fashion so that it can fit inside the nucleus of the cell. Several types of chemical modifications can be made to DNA that affect how tightly it packs and in turn, the ability of enzymes to transcribe the sequence and initiate the production of the proteins that it codes for. Epigenetic marks do not affect the letters in the code, just how often it is read. Genes can effectively be silenced or activated by these mechanisms, which are still not completely understood.

Autism and looking preferences: The ethics of pre-symptomatic detection

As I have written before, researchers at the Marcus Autism Center are working with eye tracking technologies to identify Autism Spectrum Disorder (ASD) in young children and infants. As Katie Strong described in this blog post, a recent article in Nature, titled “Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism,”[1] presented the Marcus team’s most recent findings related to the early identification of ASD traits. They argue that, although there are many different ‘autisms’ with many likely causal pathways, the developmental pathway to ASD is similar. This work is an effort to capture this pathway by focusing on differences in early looking patterns. In this article, they “propose that in infants later diagnosed with ASD, preferential attention to others’ eyes might be diminished from birth onwards”(p. 427). After a brief refresher on the article’s findings and background, I will provide a deeper discussion on the neuroethical concerns. 

Doing Feminist Science/Feminists Doing Science: An interview with Dr. Sari van Anders, Founder of Gap Junction Science Part II

Continued from Part I. In Part II, Dr. van Anders discusses her website, www.gapjunctionscience.org.

How did Gap Junction Science come about? Prior to Gap Junction, how did you find and network with feminist scientists?

I became really interested in the doing of feminist science – it felt very hard for me to figure things out, and there wasn’t that much community of actual feminist scientists. I wanted to develop a place where feminist science could be discussed – both practice and theory. I sometimes hear people talk about the theory as if it is practice. Of course it’s relevant, but you know what they say about theory and practice: in theory, they’re the same, in practice, they’re not. I was lucky that while I was thinking about these things, there was a call for grants at UM from our ADVANCE program for online networks in science that promote diversity. Feminism isn’t necessarily diverse, but the feminist science I envision at its heart attends to diversity. So, I wanted a space where scientists didn’t have to defend their very identity, and where feminist beliefs were a starting point, not a debate. I hoped that Gap Junction Science could be a space where feminist scientists could challenge ourselves, learn more, develop methods, and engage in a shared project. Prior to Gap Junction Science, and still, I do a lot of grassroots networking – emailing, meeting, etc. I like that ‘bottom-up’ approach and I like that now I also have a ‘top-down’ source too.

Via OffWorld Designs

Doing Feminist Science/Feminists Doing Science: An interview with Dr. Sari van Anders, Founder of Gap Junction Science Part I

Dr. van Anders

*Editor's note. The title of this post is the title of Sari van Anders' talk sponsored by Emory Women in Neuroscience on March 20th. This post is the first of a two-part series.

Mallory Bowers, a 5th year graduate student at Emory University and President of Emory Women in Neuroscience, interviewed Dr. Sari van Anders an Assistant Professor in the Departments of Psychology and Women’s Studies at the University of Michigan, for the Neuroethics Women Leaders group. Dr. van Anders received her Ph.D. in Biological and Cognitive Psychology from Simon Fraser University. Her current research program focuses on “social neuroendocrinology, intimacy (sexuality/pair bonding, nurturance), evolution, health, gender/sex and sexual diversity, and research and feminist science practice." The interview will be published in a two part presentation. In Part I, she discusses her path to becoming a critical feminist scientist, the pitfalls of research on sex/gender differences, and how her work fits into bioethics.

Can you talk a little bit about your evolution as a feminist scientist - who or what influenced your feminism?

A very brief selected slice: I was reading feminist science studies in undergrad, but there were no courses on it. I was also so feminist-identified that I didn’t understand the value of taking feminist courses (I thought they were to teach feminism in general, and didn’t understand what feminist scholarship was). I knew I was interested in evolution, sex, gender, and socialization, but it seemed to me that you either studied one (sex/evolution) or the other (gender/socialization). This was actually a pretty fair assumption as there were almost no places to get mentoring about how to incorporate the two into one research program. In graduate school I was doing more work on biological determinism of sex, and then moved to social modulation of hormones. It was really hard for me to see how I could bring the reading I was doing on feminist science studies into my actual science practice, and most of the scientists who were interested in feminist scholarship had left science practice, so there were no guidelines about the day-to-day of feminist science (i.e., there was lots on epistemological approaches but almost nothing on epistemic approaches to feminist science). I kept reading and thinking, noticing little things I could do and claiming them for feminist science. In graduate school, I started an interdisciplinary group at my PhD institution to bring together people interested in gender and sex. And, I started teaching courses that brought the topics together (intersexualities; biopsychological approaches to gender/sex). Slowly it came together, with many missteps and much influence from seeing important ideas in feminist science studies, realizing how I could play them out in my work, and so on. I was already doing feminist science when I took my joint position in Psychology and Women’s Studies here at the University of Michigan, but being more immersed in feminist scholarship has been a major boon to my feminist science practice.

The next stage of neuroenhancement? Transcranial direct current stimulation

By Elisabeth Hildt, PhD

Dr. Elisabeth Hildt is a Senior Researcher, Reader, and Head of the Research Group on Neuroethics/Neurophilosophy at the University of Mainz Department of Philosophy. She is also a member of the AJOB Neuroscience Editorial Board.

Recently, non-medical uses of transcranial direct current stimulation (tDCS) which aim at enhancing brain function in healthy individuals have raised public attention (Cohen Kadosh et al. 2012; Fitz & Reiner 2013; Levasseur-Moreau et al. 2013).There are companies selling tDCS devices, and one such company is foc.us, which offers a headset for $249.00 and promotes this headset as an advantage for gaming. With slogans such as: “Use the force: Let the force of electricity excite your neurons into firing faster” or “Stronger, faster, quicker: Excite your prefrontal cortex and get the edge in online gaming”, the headset is portrayed to be a cool and trendy game add-on. However, in first assessments, the benefit of the headset for gaming does not seem obvious. In internet platforms, such as reddit, people exchange detailed instructions on how to assemble and use tDCs devices for self-enhancement. In sum, it seems that there is a community of technophilic individuals who experiment with tDCS devices for self-enhancement or who give instructions for assembling do-it-yourself tDCS devices.

Lumosity: a "personal trainer for your brain"?

Is intelligence more like height or strength? Could high school students improve their IQs in time for the college entrance exams with a few weeks of “brain training” like college students pump up their biceps before spring break? For many years, psychologists believed that intelligence, and particularly fluid intelligence, is for the most part a fixed quantity – somewhat like height. Fluid intelligence, which is thought of as the ability to perceive patterns amongst noise, understand meaningful connections, and analyze information in the moment is a strong predictor of future success yet has been remarkably resistant to training¹. In a way, this sounds strikingly similar to what neuroscientists once said about the biology of the brain (i.e. neurons don’t regenerate after injury and they are only lost, not added throughout life). Now we know that the brain is incredibly plastic and that new neurons are produced even into adulthood². So, why wouldn’t an aspect of intelligence, undoubtedly a product of the dynamic brain, also be mutable? Recently, a lucrative new industry has aimed to capitalize on this notion. Web-based programs such as Lumosity.com have grown rapidly. They aggressively market their services with the assertion that they are backed by neuroscience but with a decidedly fad-diet feel. Who wouldn’t want to “unlock your inner genius”?

Jane’s Brain: Neuroethics and the Intelligence Community

By Jonathan D. Moreno, PhD

Dr. Jonathan D. Moreno is one of 14 Penn Integrates Knowledge university professors at the University of Pennsylvania, holding the David and Lyn Silfen chair. He is also Professor of Medical Ethics and Health Policy, of History and Sociology of Science, and of Philosophy. Moreno is a Senior Fellow at the Center for American Progress in Washington, DC. In 2008-09 he served as a member of President Barack Obama’s transition team. He is also a member of the AJOB Neuroscience Editorial Board.

In September I arrived in Geneva to keynote a conference at the Brocher Foundation on the banks of Lake Geneva, where the ghost of John Calvin still casts a long shadow over the stern ethos of the Swiss. It was a glorious day in that oasis of calm and cleanliness, where the sheer power of holding much of the world’s money in its vaults justifies a muffled smugness. Compulsively, I checked my email as my taxi glided past the Hotel President Wilson, the monument of grateful bankers to the American president whose ill-fated League of Nations nearly made Geneva the official as well as de facto capital of the world. (Its $81,000 a night penthouse suite is said to be the most expensive in the world; I didn't stay there.)

Can Neuroscience Data be Used to Minimize the Effects of Stereotype Threat?

Last December 2013, the neuroscience graduate students at Emory University spearheaded an effort alongside many other sponsors to organize and implement a symposium to explore the neuroscientific basis of race and gender bias. The program, entitled “Bias in the Academy: From Neural Networks to Social Networks,”  awarded the Laney Graduate School New Thinkers/New Leaders fund and support from CMBC and the Center for Ethics, aimed to provide students and faculty alike an overview of the psychological and neuroscientific research on race and gender bias and how this might be used to mitigate harmful effects of stereotype and bias in the academy. After listening to and participating in the symposium, I realized that the symposium speakers and student planners all hoped to answer a similar question regarding the nature of the brain: Is the brain “hard-wired” to categorize people into groups in a way that makes negative stereotyping inevitable or is the brain exquisitely plastic insofar as biases we hold toward groups can be altered via certain interventions? One individual cannot find the answer to this question; rather, multidisciplinary scholarship can work to bridge the gap between disciplines such as neuroscience and social psychological findings that begin to answer this question and real-world issues.