Schizophrenia linked to genes

Mental illnesses, particularly schizophrenia, have seen relatively few advances in drug treatment over the past 50 years.¹ This is largely due to our lack of understanding about what causes them. Therefore, it has been historically challenging to mitigate symptoms of diseases such as schizophrenia. Though medications are available that address the hallucinations and delusions associated with the disease, there is currently no drug on the market that can fight schizophrenia on a broad spectrum. The dearth of knowledge or insight into the origins of this disease has led to a lack of pharmaceutical developments, causing a stagnation in treatment. However, scientists have recently made a tremendous leap in understanding this disease by conducting the world’s largest study of a psychiatric disorder, the findings of which have been published in the journal Nature. The findings of this study could catalyze a new wave of developments in pharmaceutical technology.

A short definition of schizophrenia

Schizophrenia is a highly heritable mental illness that causes hallucinations and delusions along with the degeneration of other mental functions. Schizophrenics often hear voices or suffer from paranoia, disrupting the ability to concentrate and think clearly. Though treatment options address some symptoms of schizophrenia, it is a chronic disease, one that sufferers must cope with long term. Symptoms include disorganized thinking, hallucinations, delusions, suicidal thoughts and abnormal motor behavior.²  In the past, Schizophrenia has been linked to genes involved in the regulation of dopamine, a link that has been reaffirmed by recent research.

Mental health treatment in the U.S.

Scientists have little understanding of the causes of many mental illnesses, and many drugs used to treat these diseases were found entirely by accident.³ Schizophrenia affects about 1 percent of the population in the United States, yet mental illnesses in general affect a much larger percentage of the population. Approximately one in five American adults take one or more psychiatric medications.⁴ With that said, pharmacological developments within the field have been remarkably slim over the past several decades. Drugs currently given to those suffering from mental illness aim at symptoms of the disease rather than its root causes. Therefore, the drugs may ameliorate certain behaviors but not fight the disease itself. Current medications look to correct chemical imbalances, but the brain is an immense system of networks that we are likely to never fully understand. Antidepressants, anti-anxiety drugs and antipsychotics have all essentially been the same since the 1950s.⁵

The study

The new study was led by the Broad Institute and run by a consortium of hundreds of researchers. The study analyzed the genomes of over 150,000 subjects, 37,000 with schizophrenia, and 114,00 without it.⁶ Prior studies have identified around 30 genes linked to schizophrenia, whereas this study identified 128 independent associations spanning 108 conservatively defined loci.⁷ To run such tests, scientists scan the entire genome of the study participants and look for common mutations. The study also found a correlation between genes connected to the immune system and heavy smoking and those involved with schizophrenia.⁸ Since researchers have been able to identify more than triple the amount of loci as previous studies, there are numerous new places to focus treatment. Moreover, this means that pharmaceutical companies that stopped investing in the research of mental illness will potentially again look at creating medications based off the new research.

Of course, this is all brand new information. Scientists will need to continue conducting research based on the results of this study. It is unlikely any one gene will be defined as the cause of a specific disease, but genomic analysis might be the next big step in identifying the risk of mental illness. As scientists develop a more complete picture of genomes and the correlations between gene mutations and schizophrenia, as well as other related illnesses, a hypothetical map could be developed to predict a person’s risk. So though it is unlikely there will ever be a simple cure for psychiatric diseases, scientists now have the momentum to carry them in the direction of developing a more effective treatment. Furthermore, the sheer size of this study has given scientists a large bank of data with which to work.

New funding

The Broad Institute is a biomedical research facility located in Cambridge and run by Harvard and MIT. The Broad Institute has officially received a $650 million commitment from Ted Stanley based on the research and findings of this study. The hope is that the gift will lead to major advancements in the treatment of those with schizophrenia and other mental illnesses. It is estimated $239 million will be spent on schizophrenia research this year alone.⁹

The money donated by Stanley will be used to advance genetic analysis of schizophrenia, bipolar disorder and other mental illnesses.¹⁰ Researchers look to use the funding not only to catalog genes but to create novel treatments, as some scientists involved are already working to discover new drugs.

¹“New Schizophrenia Gene Links Uncovered” by Charles Choi. Livescience. July 21, 2014. http://www.livescience.com/46912-schizophrenia-genes-treatments.html

²“Schizophrenia symptoms” by Mayo Clinic Staff. Mayo Clinic. http://www.mayoclinic.org/diseases-conditions/schizophrenia/basics/symptoms/con-20021077

³“We Are Now At A Major Turning Point In Understanding Mental Illness” by Lauren Friedman. Business Insider. July 23, 2014. http://www.businessinsider.com/broad-institute-stanley-donation-schizophrenia-2014-7

⁴“We Are Now At A Major Turning Point In Understanding Mental Illness” by Lauren Friedman. Business Insider. July 23, 2014. http://www.businessinsider.com/broad-institute-stanley-donation-schizophrenia-2014-7

⁵“A Dry Pipeline for Psychiatric Drugs” by Richard Friedman. The New York Times. August 19, 2013. http://www.nytimes.com/2013/08/20/health/a-dry-pipeline-for-psychiatric-drugs.html

⁶“Biological insights from 108 schizophrenia-associated genetic loci” Nature. July 24, 2014. http://www.nature.com/nature/journal/v511/n7510/full/nature13595.html

⁷“Biological insights from 108 schizophrenia-associated genetic loci” Nature. July 24, 2014. http://www.nature.com/nature/journal/v511/n7510/full/nature13595.html

⁸“Biological insights from 108 schizophrenia-associated genetic loci” Nature. July 24, 2014. http://www.nature.com/nature/journal/v511/n7510/full/nature13595.html

⁹“Estimates of Funding for Various Research, Condition, and Disease Categories” National Institutes of Health. March 7, 2014. http://report.nih.gov/categorical_spending.aspx

¹⁰“Schizophrenia has clear genetic ties, new study finds” by Karen Weintraub. USA Today. July 22, 2014. http://www.usatoday.com/story/news/nation/2014/07/21/schizophrenia-genome-immune/12947505/