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August 13, 2019
In one of the largest studies carried out so far, comprising of more than 100,00 people, scientists at the Icahn School of Medicine at Mount Sinai have identified nearly 413 genetic associations of schizophrenia. The researchers located these associations by applying a novel machine learning methodology and found them to be true across 13 regions of the brain. Published in the journal Nature Genetics, the study explored gene expression at the tissue level and facilitated recognition of novel genes linked to schizophrenia. Further, it also helped determine the regions of the brain where abnormal expressions may be developing.
Schizophrenia is a debilitating disorder, one of the major reasons for disability worldwide. It affects less than 2 percent of the population globally and between 0.25 and 0.64 percent of Americans. Despite its low prevalence, the disease has extensive socioeconomic impact and major public health burden contributed by the cost of treatment and hospital readmissions. Moreover, while it is accepted that multiple genes contribute to the heightened risk of developing schizophrenia, the precise genetic makeup of this disease is not yet fully understood. This obscurity prompts the researchers to keep experimenting as understanding the mechanisms related to any illness is crucial to develop effective treatment modalities for the same.
Novel transcriptomic imputation technique used
The researchers at Mount Sinai employed transcriptomic imputation and genome-wide association studies to detect diseases linked to schizophrenia with tissue level resolution in 40,299 people afflicted with schizophrenia and 62,264 matched controls.
An increasingly common type of study in biomedical research, genome-wide association research identifies the discrepancies at multiple locations in the genetic code to identify if a variation is present more frequently in those with schizophrenia.
On the other hand, transcriptomic imputation is a relatively new machine learning technology that facilitates the examination of the link between gene expression and diseases in which the tissues are otherwise inaccessible; for example, like those of the brain.
Risk genes of schizophrenia expressed throughout development
Sharp resolution was used by the researchers to discover genes associated with schizophrenia. The researchers noticed that the genes associated with schizophrenia were expressed all through a person’s growth and development, with some being expressed during a few specific phases of pregnancy and others through adolescence or adulthood. It was also discovered that risks for schizophrenia were presented by the different regions of the brain with maximum associations conferred through the dorsolateral prefrontal cortex.
Dr. Laura Huckins, an assistant professor of genetics and genomic sciences and psychiatry, at the Icahn School of Medicine at Mount Sinai, stated that the novel predictor model provided the researchers with an unparalleled zeal to investigate predicted gene expression in schizophrenia. Additionally, it helped recognize new risk genes linked with the disorder. Dr. Huckins further added that by setting the foundation for merging genome-wide association study findings with transcriptomic imputation, the researchers hoped that knowledge regarding gene development in relation to schizophrenia will evolve and guide upcoming research designs and methodologies.
Schizophrenia is treatable
Schizophrenia is a serious and chronic mental health disorder that impacts the way a person thinks, behaves, reacts, and relates to others. People struggling with schizophrenia lose touch with reality. Despite not being a common mental illness, the symptoms of schizophrenia can be incapacitating. However, with medication and counseling at credible treatment centers for schizophrenia, the disorder can be effectively managed.
If you or a loved one is battling schizophrenia or any other mental illness, reach out to the Invictus Health Group. Call our 24/7 mental health treatment helpline 866-548-0190 for more information about research-backed treatment programs offered at our network of schizophrenia treatment centers. You can also chat online with a representative from the admissions team for further assistance.