mental health

Rare genetic changes increase risk

Rare genetic changes increase risk
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  • According to a new study, rare genetic variants that can increase the likelihood of neuropsychiatric disorders (NPD), such as schizophrenia and bipolar disorder, have been found in about one in 100 people in the general population. over 90,000 people.
  • The research also found that a third of people with this variant had a diagnosed mental health condition.
  • These findings were based on an analysis of genetic data and electronic health records (EHRs) focusing on 94 genes linked to an increased risk of NPD.

Neurodevelopmental psychiatric disorders (NPD) are conditions that affect brain development and can lead to disabilities. They are very common in the United States, affecting more than 20% of the population.

People with neurodevelopmental disorders may have challenging behaviors and mental health issues. These disorders have complex origins and are caused by a combination of genetic factors and environmental influences.

Several NPDs, such as schizophrenia, bipolar disorder, and some forms of intellectual disability or developmental delay, have similar genetic causes.

These include different sequences in the DNA of certain parts of the genome, called variants, that can occur on specific genes that have a big impact on brain function.

Research into these rare genetic variants is important to understanding all of NPD because it helps reveal shared pathways in the brain that may be disrupted in people with these disorders. This knowledge can lead to new treatments and therapies for people with these diseases.

In this new study, published in the American Journal of Psychiatrythe researchers were able to demonstrate a significant correlation between 94 genetic variants and the risk of developing NPD.

Their article lists autism, schizophrenia, and bipolar disorder as NPD they included in the study.

The research team examined data from a subset of 90,595 participants enrolled in the community health initiative MyCode, the DNA sequencing program of Geisinger, a healthcare delivery and coverage organization. health.

The study analyzed genetic and electronic health record (EHR) data, focusing on 94 genes that were previously linked to an increased risk of NPD, including autism, schizophrenia and bipolar disorder.

They compared the prevalence of these genes with anonymized related DSE diagnostic codes for NPD.

The study found that more than 1% of participants in the cohort had one of these rare genetic variants linked to NPD, and of these participants, one-third had previously been diagnosed with NPD.

The research team identified harmful changes in individual genes and their likelihood of causing NPD across a broad healthcare system, which could lead to improved prevention and treatment methods.

They point out that while hundreds of genes are implicated in neuropsychiatric disorders, the study focused on the genes that are currently best understood.

Geisinger Scientific Director Dr. Christa Lese Martin, Director of the Institute for Autism and Developmental Medicine and one of the paper’s authors, spoke with Medical News Todaystating that “the study found that approximately one in 100 MyCode participants carry at least one rare genetic variant known to increase the risk of neuropsychiatric disorders (NPD), such as autism and schizophrenia, and that a third of those with a variant had a mental health condition diagnosis in their medical records.

Dr. James Giordano, professor of neurology and biochemistry at the Pellegrino Center at Georgetown University Medical Center, not involved in this research, noted that “this study investigated the frequency of single-gene variance of a number neurodevelopmental psychiatric conditions, including autism and the schizophrenia spectrum”. troubles. »

“By examining the genetic profiles of a population-wide sample of symptomatic individuals, the study demonstrated that many exhibit unique gene expression that may contribute to some predisposition to these conditions,” he said. he commented.

“Even though a significant number of participants with a genetic variant had an existing mental health condition, very few were aware of the genetic cause,” Dr. Lese Martin said.

“Our experience is that the majority of participants enjoy learning this information because it helps to ‘medicalize’ their condition and removes some of the stigma that is always associated with these conditions,” she noted.

“This study is a first step towards understanding the wide range of mental health problems observed with specific genetic variants. Going forward, our research will focus on unique therapies that could benefit people with these specific genetic variants,” explained Dr. Lese Martin.

Dr. Giordano agreed, saying “the results are interesting and have potential value in that they demonstrate the relative frequency of single gene expression in these types of disorders in a generalized regional population. “.

“However, it is important to note that genetics often only establishes an ultimate developmental potential of certain physical and physiological characteristics – which depend, at least in part, on a multitude of environmental factors,” he said. he warned.

“Nevertheless, a better understanding of neurogenetics is essential to better understand the mechanisms of disease and possible genetic interventions aimed at mitigating the development, expression and manifestations of these disorders.”

– Dr. James Giordano

The Geisinger researchers note that precision medicine has been helpful in making progress in other health conditions like cancer and heart disease, and they believe it could lead to targeted treatments that also work well for NPDs. , however, further research is needed.

Ultimately, this study highlights that screening people with symptoms of NPD for these potentially harmful genetic changes could lead to better outcomes, allowing for early intervention and specialized treatment.

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