An Update on Genetic Research

By Ken Duckworth, M.D. | Aug. 04, 2017


NAMI advocates to ensure that mental health research gets the funding it deserves. We also advocate for fully informed consent for people who choose to be in research studies. In most instances, volunteers will not benefit directly from research; they may only be helping our understanding, which could lead to better treatments in the future.

One of the more recent and complex areas of research is genetics. Like me, you probably learned in your sixth-grade science class that genes are made of DNA, and they code for human traits like eye and hair color. They also code for many disease-risk states, and the field of genetics is now trying to understand what causes human illness—including mental illness. The field has advanced a great deal, but we have a very long way to go.

Understanding the Role of Genetics in Disease

Since the discovery of the human genome (which is basically a map of our genes),  there have been major advances in several areas that relate to illness states. Take for example cystic fibrosis, which is essentially a shortage of one gene; this discovery has led to new treatments for single-gene disorders. Additionally, scientists are gaining knowledge on genes that inform treatment choices for other conditions. For instance, in some cancers, if a person has a certain gene marker, particular treatments are more likely to be effective. Cancer genetics is a rapidly growing area of research interest.

However, the field of genetics has a long way to go to achieve similar success in helping us learn about what causes mental illness symptoms and how to treat them. Mental health conditions are complex; therefore, they will likely not be found to be caused by a single gene. Indications are that these conditions have poly-gene complexities, involving dozens or maybe even hundreds of genes—we just don’t know. We also don’t know the role that environment—social and biological—plays in the expression of these genes (a field called epigenetics). We do know that in many cases, nature and nurture work together. It’s not usually an either/or question.

Improving our understanding of these complex mechanisms requires scientists to study genomes from willing donors, and to use sophisticated analytics to see if patterns emerge. The existence of large data sets of genes from people who have donated saliva or blood is slowly helping researchers make sense of this complex area. The choice to give your genetic information to any area of medical study requires careful consideration. Learn more here.

Open Science Paves the Way

At the Stanley Center of the Broad Institute in Cambridge, MA, leading scientists used Genome Wide Association Studies or GWAS (gene data sets taken from willing volunteers) to research genetic associations of schizophrenia and schizoaffective disorder. In 2016, researchers noted certain associations in 108 genes that warrant further investigation. One gene on chromosome 6 is particularly noteworthy for having immunologic activity as well as an association with schizophrenia and schizoaffective disorder. It may be involved in neural pruning, which is theorized to be one of the causes of schizophrenia. (Note: Three of the scientists who made this groundbreaking discovery won the NAMI Scientific Research Award in 2016.)

The Broad Institute models and favors open science—meaning they believe that discovery will be accelerated if all data can be examined by multiple researchers. Because of this, the Genome Wide Association Studies are worldwide data sets open for all scientists to analyze. This data set can be used by all as we continue to understand more about the brain and illness.

While private companies are less likely to make their data open to all scientists, they are also making important contributions to this field. Additionally, they engage with pharmaceutical companies to better understand what genetic clues they can find to improve treatment of some mental illnesses. For example, there is a study currently underway looking at how genetics is related to brain functions for people with depression and bipolar disorder. The research is being conducted by 23andMe, the first private company to develop a series of tests that has been approved by the FDA, which may help people understand their risk for selected physical conditions. These tests do not speak to psychiatric illnesses, as they are simply beyond the reach of scientific understanding at this time.

Another noteworthy development in the field of genetic research is the work of Gurdon and Yamanaka who found that human skin cells can be made into stem cells. They were awarded the Nobel Prize in Physiology or Medicine in 2012 for their ingenious work. Because of these men, it is now possible to study neurons from the adult skin cells of people who have specific conditions, such as bipolar disorder.

NAMI Supports Young Researchers

Whether open or private, NAMI supports the field of genetic research when there is clear informed consent for all research subjects. Through the generous donation of the estate of Carleen Unger, NAMI supported Aislinn Williams, M.D., PhD at the University of Michigan who is working to understand neurons grown from skin cells of adults who have bipolar disorder. She is comparing them to their counterparts in people who do not experience bipolar. This is a novel way to understand how brain cells may be “different” in people with bipolar disorder.

NAMI also selected another young investigator in the Unger grant, Adrienne Gerken, M.D., who was studying a true recovery-oriented inpatient unit—where all work is shared with patients and there are no off-camera meetings. Both of these young researchers presented their work at the 2017 NAMI National Convention and their presentations can be heard here.

Their work represents our goal at NAMI to help catalyze the ability to scientifically support and understand those with mental illness. As we continue to work towards building better lives for those with mental illness, we need to also remember the importance of research and discovery.


Ken Duckworth, M.D. is medical director at NAMI.

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