The UNC School of Medicine has worked with nations across the globe in the largest genomic study to be published on any psychiatric disorder in order to identify more than 100 locations within the human genome that could connect to the development of schizophrenia.
Schizophrenia is a psychiatric disorder that affects about 1 of every 100 individuals around the world. It typically manifests in the teens and early 20’s, and is diagnosed by paranoia, hallucinations, and altered thought processes. With that come heavy costs on individuals as well as society, financially and for quality of life. In the United States, more than $60 billion each year is spent on the treatment of schizophrenia.
UNC Distinguished Professor and the Director of the Center Psychiatric Genomics, Patrick Sullivan, told WCHL how he and his team developed the group that would go on to conduct this project.
“We began the Psychiatric Genomics Consortium about seven years ago, and the work that was presented in the paper of Nature represents at least seven years of work by over 300 people and incorporates information from over 15,000 people,” says Sullivan. “It’s been an enormous amount of work, a labor of love by dozens and dozens of individuals.”
As this was an international study, Sullivan says that there were a significant number of sources that worked to make this analysis such a success.
“The number of authors on the paper was 302,” says Sullivan. “These individuals come from at least 30 different countries, and over 100 different institutions. It is truly a worldwide operation.”
The discoveries made by the international team can be found through the online publication, Nature, and connect to several aspects in human biology that are common in the occurrence of schizophrenia. Though there has not been significant progress in drug development for it in over 60 years, these findings could mean new ways of treating this disorder.
“The advantage of this study is that it allows us an unprecedented and detailed look under the hood,” says Sullivan. “For the first time, we are starting to be able to dial into what schizophrenia is, from a fundamental and genetic basis. We’re very hopeful that the knowledge will be the kind of thing that leads to important breakthroughs and treatment for people with schizophrenia.”
Sullivan says that UNC played a vital role in how the study was conducting, analytically and in gathering volunteers to participate in the study.
“There were 10 plus investigators who were on that paper who the hard work of actually finding individuals who could be part of the study, individuals with schizophrenia as well as without,” says Sullivan. “Other people contributed to the analysis, and that’s a huge amount of work to actually get that done. We were fortunate to have a number of great people from UNC as part of that.”
As of now, Sullivan says there are medications available on the market for schizophrenia that help, but only manage the psychosis aspect of the disorder. This is partially due to the fact that not much has been uncovered yet about what biologically affects the disorder. From their previous study, Sullivan says that their group has found several new locations within human biological makeup for schizophrenia to exist, which will make it much easier to find how the disorder develops.
“The previous study pushed the number of confirmed loci for schizophrenia to 22, and this study obviously found a lot more,” says Sullivan. “It gives us a lot more detailed ideas of what’s really going wrong with schizophrenia. These are the things that with future work I think will get us dialed firmly into fundamental biology.”
Those involved in the published study analyzed 80,000 genetic samples from patients who had schizophrenia in addition to healthy volunteers. Through this, they found 108 places in the human genome connected to what could develop schizophrenia; 83 of said places had never been linked to the disorder before.
Sullivan says that this study is much better than the last because of the number of individuals involved and who specifically worked to make it happen.
“The first is the scale; it’s the largest study in the field,” says Sullivan. “The second thing is we’ve been extremely fortunate to be involved with and attracting recruits from absolutely top-notch analysts, statisticians, and computer scientists. To handle information of this scale requires similarly scaled efforts.”
Sullivan concludes that this study has opened whole new doors in not only treating schizophrenia more intelligently, but many other mental disorders that could have connections to schizophrenia.
“One of the things that we’re finding is some unexpected connections between schizophrenia and other disorders. “We have published work suggesting that there may be not a complete overlap, but certainly an important genetic overlap for schizophrenia, bipolar disorder, and probably autism. Our larger study is in progress, and we’re hoping that we’ll have more clarity over the next couple years.”