By Cynthia Bulik, PhD

Co-Chair Anorexia Nervosa Working Group of the Psychiatric Genomics Consortium

with Stephanie Zerwas, PhD (@sczerwas) and Gerome Breen, PhD (@psychgenomics)

If you follow me on Twitter (@cbulik) you will have noticed that I just returned from a vibrant week in Boston during which I attended the World Congress on Psychiatric Genetics (WCPG). I have returned to work positively fired up and have discovered another gear to accelerate our research on the genetics of anorexia nervosa.

While in Boston, I was privileged to hear talks from clinicians, ethicists, geneticists, and statistical whizzes who all came together in what was by far the most inspirational WCPG I have ever been to. For years this conference has been interesting, but real genetic findings were elusive. I recall not too many years ago a member questioning whether we really had enough science to warrant holding the conference annually. How things have changed!

In 2013, we have concrete genetic findings in schizophrenia, bipolar disorder, autism, Alzheimer’s, alcohol dependence, and nicotine dependence. Other disorders are hot on their heels. Anorexia nervosa, post-traumatic stress disorder, attention deficit hyperactivity disorder, obsessive-compulsive disorder, major depression are all engaged in efforts that span the globe to amass sample sizes that will allow us to decode the genetics of these devastating illnesses.

Heck, they even have a t-shirt! This is the t-shirt that the schizophrenia group had printed in celebration of identifying over 100 genetic “hits” for schizophrenia. These researchers are dedicated psychiatrists, geneticists, and statisticians who are finally seeing the light at the end of the tunnel, in many cases after decades of working in the field. Their perseverance and determination to understand the illness is finally paying off and they, frankly, they are excited. What this means is that scientists can now begin combing through those hits to understand their biology and the pathways that lead to the symptoms that characterize schizophrenia. Even more essentially, this knowledge will then be transformed into the development of novel therapeutics that will directly target the biology of the disorder and help millions of people worldwide.

Scientific Advances Via Collaboration

These advances have all been made possible by unprecedented collaboration. The Psychiatric Genomics Consortium is the largest consortium in the history of psychiatry. Right now it includes over 400 investigators, more than 80 institutions from 30 countries and there are DNA samples from over 170,000 people now in analysis. If these sound like big numbers, you’re hearing correctly.

The reason that schizophrenia is out ahead of the pack is because of sample size. When it comes to genetic research, sample size is everything. Years ago we used to think that a few thousand would do. Now we know that that is a vast underestimate. As of last week, the schizophrenia group had 25,000 cases, the bipolar group had 15,000 cases, and the major depression group had 17,000 cases. Anorexia, a new group, currently has a little under 4,000 and we need to grow our sample size in be in line with these other disorders in order to get to the point where we too can start pinpointing the biology of the illness for which we are dedicated to finding the cause and the cure.

Why Study the Genetics of Anorexia Nervosa?

Some of you might be questioning whether our research dollars could be spent in different ways.  It is an important question to ask. My rationale for directing funds to anorexia genetics research are threefold.

First, anorexia nervosa is a devastating illness and there remain no medications that are effective in the treatment of the disorder. The absence of such medications is due to our fundamental lack of knowledge about the underlying biology of the illness. We have been borrowing medications from other disorders (e.g., depression, anxiety disorders, psychotic illnesses), none of which actually targets the actual biological pathways that underlie anorexia nervosa. Genetics will help us identify those pathways and find new drug targets to tailor medications to the core of the illness.

Second, labeling and stigmatization have plagued this field for far too long. As was historically the case with autism and schizophrenia, parenting, mostly mothering, was blamed for decades as a prime causal factor in anorexia nervosa. Genetics allows us to sidestep those misconceptions and put a nail in the coffin of the damaging finger pointing that has hampered treatment and compassion for so long.

Third, the new treatments that will emerge from this work will complement, not replace, all of the other therapeutic interventions that we are developing and refining for anorexia nervosa. Individual therapies, family therapies, couple-based therapies will all remain critical components of the practitioner’s “theracopoeia,” but we will populate the practitioners pharmacopoeia with more precise medications.

The beauty is that we have technology and methodology to do this now.  All we need to do is band together as a community to provide the research person power and blood donations to advance the science of anorexia nervosa and bring treatment into the 21st century.

How Can You Help?

You can help in several ways. If you are in the United States and you have ever had anorexia nervosa (at any point in your life), you can roll up your sleeves and donate a sample to the ongoing Anorexia Nervosa Genetics Initiative (ANGI) study. Your sample will augment the existing 4000 and get us closer to our goal of 25K by 2015. If you are in Australia, you too can participate by following this link.

There are other ways you can contribute to this research. You can spread the word, via twitter, via Facebook, and even via old-fashioned word of mouth, to let people know about this critical effort to identify the genes that increase someone’s risk of developing anorexia nervosa.

If you have never had anorexia nervosa, you can help too. You can donate a blood sample as a control (that is, someone who has never had the illness). Our eventual goal will be to compare the DNA of people who have had anorexia nervosa to the DNA of similar people who have never had anorexia nervosa to see where the differences lie. So we need your samples too!

If you are in the UK you can also participate in anorexia nervosa genetics research via the Charlotte’s Helix project.

How to Donate to Anorexia Genetics Research Worldwide

There is one more important way you can help. Anyone can help fund research. Research is an expensive undertaking and more funds could help us engage more researchers to collect more samples to reach that 25K goal! Funds donated to UNC earmarked for (School of Medicine then UNC Eating Disorders Project- 348891) could help us support funds to collect and genotype  samples from around the world. You can also contact me directly cbulik@med.unc.edu.

In the UK, you can visit the Charlotte’s Helix website to help fund the independent UK initiative. Many people in the UK  want to participate, and funds are needed to support anorexia nervosa genetics research there.

I have been in this field since 1982 and I have never seen such an outpouring of support for this research. People who have dealt with this illness see the promise that genetic research holds in understanding anorexia, and so many participants are motivated by wanting to help others never have to experience the hell that is anorexia nervosa. I know in my heart that if we all work together, we can actually surpass our 25K goal. I am already designing our t-shirt in my mind!