AI detects new class of genetic mutations behind autism

Agencies
May 30, 2019

Using Artificial Intelligence (AI), researchers have discovered new genetic flaws that contribute to autism in people.

Most previous research on the genetic basis of disease has focused on the 20,000 known genes and the surrounding sections of DNA that regulate those genes.

However, even this enormous amount of genetic information makes up only slightly more than one per cent of the 3.2 billion chemical pairs in the human genome.

The other 99 per cent has conventionally been thought of as "dark" or "junk," although recent research has begun to disrupt that idea.

In their new finding, detailed in the journal Nature Genetics, the research team offers a method to make sense of this vast array of genomic data.

The system uses an AI technique called deep learning in which an algorithm performs successive layers of analysis to learn about patterns that would otherwise be impossible to discern.

The algorithm teaches itself how to identify biologically relevant sections of DNA and predicts whether those snippets play a role in any of more than 2,000 protein interactions that are known to affect the regulation of genes.

"This method provides a framework for doing this analysis with any disease," said Olga Troyanskaya, Professor at Princeton University in the US.

The approach could be particularly helpful for neurological disorders, cancer, heart disease and many other conditions that have eluded efforts to identify genetic causes.

In the case of autism, the researchers analysed the genomes of 1,790 families with "simplex" autism spectrum disorder, meaning the condition is apparent in one child but not in other members of the family.

The method sorted among 120,000 mutations to find those that affect the behaviour of genes in people with autism.

Among this sample, fewer than 30 per cent of the people affected by autism spectrum disorder had a previously identified genetic cause.

The newly found mutations are likely to significantly increase that fraction, the researchers said.

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News Network
February 12,2020

Washington, Feb 12: People who are optimistic may contribute to the health of their partners, staving off the risk factors leading to Alzheimer's disease, dementia and cognitive decline as they grow old together, according to a study.

The research, published in the Journal of Personality, followed nearly 4,500 heterosexual couples from the US Health and Retirement Study for up to eight years.

The researchers found a potential link between being married to an optimistic person and preventing the onset of cognitive decline, due to a healthier environment at home.

"We spend a lot of time with our partners.They might encourage us to exercise, eat healthier or remind us to take our medicine," said William Chopik, an assistant professor at the Michigan State University in the US.

"When your partner is optimistic and healthy, it can translate to similar outcomes in your own life. You actually do experience a rosier future by living longer and staving off cognitive illnesses," Chopik said.

An optimistic partner may encourage eating healthy foods, or working out together to develop healthier lifestyles, the researchers said.

For example, if a person quits smoking or starts exercising, their partner is close to following suit, they said.

"We found that when you look at the risk factors for what predicts things like Alzheimer's disease or dementia, a lot of them are things like living a healthy lifestyle," Chopik said.

"Maintaining a healthy weight and physical activity are large predictors.There are some physiological markers as well. It looks like people who are married to optimists tend to score better on all of those metrics," he said.

The researchers said there is a sense where optimists lead by example, and their partners follow their lead.

They also suggest that when couples recall shared experiences together, richer details from the memories emerge.

Chopik noted while there is a heritable component to optimism, there is some evidence to suggest that it's a trainable quality.

"There are studies that show people have the power to change their personalities, as long as they engage in things that make them change," Chopik said.

"Part of it is wanting to change. There are also intervention programs that suggest you can build up optimism," he added.

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Agencies
February 11,2020

Using smartphone for long hours every day may do you more harm than you can probably think of. Researchers have found that spending a lot of time with the device and on social media may lead to mental distress and suicidality among adolescents.

The findings, published in the journal CMAJ (Canadian Medical Association Journal) contains guidance for physicians, parents and teachers on how to help teenagers manage smartphone and social media use for a healthy balance between sleep, academic work, social activity, interpersonal relationships and online activity.

"Physicians, teachers and families need to work together with youth to decrease possible harmful effects of smartphones and social media on their relationships, sense of self, sleep, academic performance, and emotional well-being," said lead author of the study Elia Abi-Jaoude from Toronto Western Hospital in Canada.

This review of evidence, led by the Hospital for Sick Children (SickKids), focuses on smartphone use and does not consider online gaming.

"For adolescents today, who have not known a world without social media, digital interactions are the norm, and the potential benefits of online access to productive mental health information -- including media literacy, creativity, self-expression, sense of belonging and civic engagement -- as well as low barriers to resources such as crisis lines and Internet-based talking therapies cannot be discounted," the authors wrote.

The researchers recommend that doctors should ask teenagers to reduce social media use rather than eradicate it completely and encourage parents to be part of the conversations.

Parents should discuss appropriate smartphone use with teenagers to determine together how to reduce risks and set boundaries.

A recent poll from the US indicates that 54 per cent of teenagers think they spend too much time on their smartphones and about half said they were cutting back on usage.

"Encouragingly, youth are increasingly recognising the negative impact of social media on their lives and starting to take steps to mitigate it," the authors wrote.

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Agencies
January 25,2020

Washington D.C., Jan 25: A new study conducted by a team of researchers reveals why individuals who have a history of early life adversity (ELA) are disproportionately prone to opioid addiction.

The study conducted examined how early adversities interact with factors such as increased access to opioids to directly influence brain development and function, causing a higher potential for opioid addiction.

The study was lead by UCI researchers and was published in Molecular Psychiatry.

Tallie Z. Baram, MD, PhD, the Danette Shepard Chair in Neurological Sciences at the UCI School of Medicine and one of the senior researchers for the study, was on the take that the widely known factor genetics that plays major role in addiction vulnerability, cannot be solely held responsible for the recent rise in opioid abuse.

To further clarify, the researchers simulated ELA in rats by limiting bedding and nesting materials during a short, postnatal period of time.

In female rats, this led to striking opioid addiction-like characteristics including an increased relapse- behaviour, for example.

As observed in addicted humans, the rats were willing to work very hard (pay a very high price) to obtain the drug.

Baram said: "Ultimately, we found that conditions during sensitive developmental periods can lead to vulnerability to the addictive effects of opioid drugs, especially in females, which is consistent with the prevalence of ELA in heroin-addicted women."

These findings can be used to highlight the importance given to sex differences in future ELA-related studies on opioid addiction, and in future prevention or intervention strategies being developed to address the growing opioid crisis.

The study conducted examined how early adversities interact with factors such as increased access to opioids to directly influence brain development and function, causing a higher potential for opioid addiction.

The study was lead by UCI researchers and was published in Molecular Psychiatry.

The study found that unpredictable, fragmented early life environments may lead to abnormal maturation of certain brain circuits, which profoundly impacts brain function and persists into adolescence and adulthood.

Tallie Z. Baram, MD, PhD, the Danette Shepard Chair in Neurological Sciences at the UCI School of Medicine and one of the senior researchers for the study, was on the take that the widely known factor genetics that plays major role in addiction vulnerability, cannot be solely held responsible for the recent rise in opioid abuse.

To further clarify, the researchers implanted ELA in rats by limiting bedding and nesting materials during a short, postnatal period of time.

In female rats, this led to striking opioid addiction-like characteristics including an increased relapse- behaviour, for example.

As observed in addicted humans, the rats were willing to work very hard (pay a very high price) to obtain the drug.

Baram said: "Ultimately, we found that conditions during sensitive developmental periods can lead to vulnerability to the addictive effects of opioid drugs, especially in females, which is consistent with the prevalence of ELA in heroin-addicted women."

These findings can be used to highlight the importance given to sex differences in future ELA-related studies on opioid addiction, and in future prevention or intervention strategies being developed to address the growing opioid crisis.

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