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Why we CARE about research in Genetics

Updated: Feb 18, 2022

A new study published in January 2022 regarding the determination of how specific genes tie to specific symptoms in Schizophrenics and it is fascinating! While the risk of developing schizophrenia has long been known to be associated with genetics, this study shows promise in being able to determine exactly how specific genes are tied to, and lead to the creation of, specific symptoms in schizophrenia. Does this mean that there is more than one gene or gene sequence that can determine whether or not someone becomes schizophrenic? Or is it just a determination of how those who become Schizophrenic have more than one gene affected by the illness which in turn causes positive or negative symptoms?

The clinical symptoms of individuals with schizophrenia can be predicted by the activity of neurons derived from the patients’ own stem cells, according to new research published in the Proceedings of the National Academy of Sciences of the United States of America. The findings shed light on the specific biological features that distinguish healthy brain cells from ill ones.

“Our understanding of underlying pathophysiology in schizophrenia is limited and current treatments that address cognitive and negative symptoms in schizophrenia are lacking,” said study author Brady Maher, the lead investigator at the Lieber Institute for Brain Development and an associate professor at Johns Hopkins University. “Stem cells derived from patients provide a new method to model schizophrenia in the lab, which we hope will lead to new insights about pathophysiology and lead to the development of novel therapeutic treatments.”

The care and treatment of people who suffer from Schizophrenia is an important focus on the future cure. Hospitals and Mental Health facilities around the nation often vary on how patients are initially assessed and treated for Mental Health Issues. This can be problematic for many reasons, including but not limited to, misdiagnosis and therefore improper treatment of the patient. While I do not believe that is intended, the evaluation and care for Mental Health patients is impactful to whether or not the patient may be able to lead a functional life after treatment. Think about that. The ability of those who receive Mental Health treatments to have a functional, ‘normal’, daily life is largely impacted by the diagnosis and treatment they receive.

The variation in assessments can also make it harder to find the causation of specific Mental Illnesses. Not only will people present with different symptoms, often comorbidities and

physical health issues can be causes of the presentation of different symptoms within a patient. This study is important as it displays the impact of genetics on Mental Health from the early stages of life.

Previously, researchers have had to rely on animal models and postmortem studies of human brain tissue. Neurons derived from pluripotent stem cells provide scientists with a new method of studying neuropsychiatric disorders at the cellular level. For their study, the researchers compared stem-cell-derived neurons from 13 individuals with a clinical diagnosis of schizophrenia to neurons derived from 15 neurotypical individuals. The subjects were extensively screened by obtaining medical, psychiatric and neurological histories, physical examinations, developmental histories, MRI scans, and genome-wide genotyping. The scientists studied the birth and early development of human brain cells -- a process known as neurogenesis -- in vitro using human pluripotent stem cells. They identified several sets of genes that are switched on during neurogenesis -- bothin vitro and in the human fetal brain -- with each set appearing to play a distinct functional role. The researchers showed that genetic risk factors contributing to schizophrenia and other psychiatric disorders were highly concentrated in these sets.

Dr Shin said: "In vitro experiments showed that when activation of these sets is disrupted, the shape, movement and electrical activity of developing brain cells is altered, linking changes in these properties to disease." Disorders linked to disruption of these genes included both early onset conditions (developmental delay, autism and ADHD) and, more surprisingly, conditions with a later onset (bipolar disorder, major depression) for which disruption of early brain development is not generally thought to play a large role. This raises the question of whether some of these genes -- which are first switched on long before birth -- remain active later in life and contribute to mature brain function, where they can potentially be targeted therapeutically. Dr Shin said: "Although much remains to be uncovered, our findings provide valuable insight into the developmental origins of psychiatric disorders such as schizophrenia."

The Lauren Marie LeVert Foundation to Cure Schizophrenia is currently working on the CARE project aimed at the evaluation and initial treatment of Mental Health patients. The work in this study highlights why the initial evaluation and treatment of patients is so critical as there are many factors both genetically and environmentally that play pivotal roles in how patients’ symptoms present themselves. The goal of the CARE project is to create a standard of evaluation and treatment of Mental Health patients across Hospitals and Mental Health facilities in the United States. The successes of standardization of care can be seen in this article regarding the standardization of maternal care in California by the California Maternal Quality Care Collaborative. “Since 2006, California has cut its rate of women dying in childbirth by more than half.” That is an enormous success and one we would like to see copied in the Mental Health industry as a whole.

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