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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Agencies
February 7,2020

Birmingham, Feb 7: According to a new study, social media users are more likely to eat healthy or junk food after getting influenced by their peer group.

The research published in the scientific journal 'Appetite' found that study participants ate an extra fifth of a portion of fruit and vegetables themselves for every portion they thought their social media peers ate. So, if they believed their friends got their 'five a day' of fruit and veg, they were likely to eat an extra portion themselves.

On the other hand, Facebook users were found to consume an extra portion of unhealthy snack foods and sugary drinks for every three portions they believed their online social circles did.
The findings suggested that people eat around a third more junk food if they think their friends also indulge in the same.

The Aston University researchers said the findings provide the first evidence to suggest our online social circles could be implicitly influencing our eating habits, with important implications for using 'nudge' techniques on social media to encourage healthy eating.

Researchers asked 369 university students to estimate the amount of fruit, vegetables, 'energy-dense snacks' and sugary drinks their Facebook peers consumed on a daily basis.

The information was cross-referenced with the participants' own actual eating habits and showed that those who felt their social circles 'approved' of eating junk food consumed significantly more themselves. Meanwhile, those who thought their friends ate a healthy diet ate more portions of fruit and veg. Their perceptions could have come from seeing friends' posts about the food and drink they consumed, or simply a general impression of their overall health.

There was no significant link between the participants' eating habits and their Body Mass Index (BMI), a standard measure of healthy weight, however. The researchers said the next stage of their work would track a participant group over time to see whether the influence of social media on eating habits had a longer-term impact on weight.

The most recent figures from the NHS's Health Survey for England showed that in 2018 only 28 percent of adults were eating the recommended five portions of fruit and vegetables per day. In Wales, this was 24 percent, in Scotland 22 percent and in Northern Ireland around 20 percent. Children and young people across the UK had even lower levels of fruit and veg consumption.

Aston University health psychology Ph.D. student Lily Hawkins, who led the study alongside supervisor Dr. Jason Thomas, said: "This study suggests we may be influenced by our social peers more than we realize when choosing certain foods. We seem to be subconsciously accounting for how others behave when making our own food choices. So if we believe our friends are eating plenty of fruit and veg we're more likely to eat fruit and veg ourselves. On the other hand, if we feel they're happy to consume lots of snacks and sugary drinks, it can give us a license to overeat foods that are bad for our health. The implication is that we can use social media as a tool to 'nudge' each other's eating behavior within friendship groups, and potentially use this knowledge as a tool for public health interventions."

"With children and young people spending a huge amount of time interacting with peers and influencers via social media, the important new findings from this study could help shape how we deliver interventions that help them adopt healthy eating habits from a young age and stick with them for life," said professor Claire Farrow.

A dietitian called Aisling Pigott further mentioned that "Research such as this demonstrates how we are influenced by online perceptions about how others eat. The promotion of positive health messages across social media, which are focused on promoting healthy choices and non-restrictive relationships with food and body, could nudge people into making positive decisions around the food they eat."

"We do have to be mindful of the importance of 'nudging' positive behaviors and not 'shaming' food choices on social media as a health intervention. We know that generating guilt around food is not particularly helpful when it comes to lifestyle change and maintenance," Aisling added.

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Agencies
July 3,2020

Apart from the many benefits of doing exercise, new research has now found that exercise can slow down or prevent the development of macular degeneration and may benefit other common causes of vision loss, such as glaucoma and diabetic retinopathy.

The new study from the University of Virginia School of Medicine found that exercise reduced the harmful overgrowth of blood vessels in the eyes of lab mice by up to 45 per cent. This tangle of blood vessels is a key contributor to macular degeneration and several other eye diseases.

The study represents the first experimental evidence showing that exercise can reduce the severity of macular degeneration, a leading cause of vision loss, the scientists report. Ten million Americans are estimated to have the condition.

"There has long been a question about whether maintaining a healthy lifestyle can delay or prevent the development of macular degeneration. The way that question has historically been answered has been by taking surveys of people, asking them what they are eating and how much exercise they are performing," said researcher Bradley Gelfand, PhD, of UVA's Center for Advanced Vision Science.

"That is basically the most sophisticated study that has been done. The problem with that is that people are notoriously bad self-reporters ... and that can lead to conclusions that may or not be true. This [study] offers hard evidence from the lab for the very first time," Gelfand added.

Enticingly, the research found that the bar for receiving the benefits from exercise was relatively low - more exercise didn't mean more benefit.

"Mice are kind of like people in that they will do a spectrum of exercise. As long as they had a wheel and ran on it, there was a benefit. The benefit that they obtained is saturated at low levels of exercise," Gelfand said.

An initial test comparing mice that voluntarily exercised versus those that did not found that exercise reduced the blood vessel overgrowth by 45%. A second test, to confirm the findings, found a reduction of 32 per cent.

The scientists aren't certain exactly how exercise is preventing the blood vessel overgrowth. There could be a variety of factors at play, they say, including increased blood flow to the eyes.

Gelfand, of UVA's Department of Ophthalmology and Department of Biomedical Engineering, noted that the onset of vision loss is often associated with a decrease in exercise.

"It is fairly well known that as people's eyes and vision deteriorate, their tendency to engage in physical activity also goes down. It can be a challenging thing to study with older people. ... How much of that is one causing the other?" he said.
The researchers already have submitted grant proposals in hopes of obtaining funding to pursue their findings further.

"The next step is to look at how and why this happens, and to see if we can develop a pill or method that will give you the benefits of exercise without having to exercise," Gelfand said.

He explained, "We're talking about a fairly elderly population [of people with macular degeneration], many of whom may not be capable of conducting the type of exercise regimen that may be required to see some kind of benefit." (He urged people to consult their doctors before beginning any aggressive exercise program.)
Gelfand, a self-described couch potato, disclosed a secret motivation for the research: "One reason I wanted to do this study was sort of selfish. I was hoping to find some reason not to exercise," he joked. "It turned out exercise really is good for you."

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Agencies
June 10,2020

Early treatment with the antiviral drug remdesivir has been found to reduce viral load and prevent lung disease in macaques infected with SARS-CoV-2 that causes COVID-19, according to a study.

The findings, published in the journal Nature on Tuesday, support the early use of remdesivir treatment in patients with COVID-19 to prevent progression to pneumonia.

Researchers from the National Institutes of Health in the US noted that remdesivir has broad antiviral activity and has been shown to be effective against infections with SARS-CoV and MERS-CoV in animal models.

The drug is being tested in human clinical trials for the treatment of COVID-19, they said.

Researcher Emmie de Wit and colleagues investigated the effects of remdesivir treatment in rhesus macaques, a recently established model of SARS-CoV-2 infection.

Two sets of six macaques were inoculated with SARS-CoV-2.

One group was treated with remdesivir 12 hours later -- close to the peak of virus reproduction in the lungs -- and these macaques received treatment every 24 hours until six days after inoculation.

In contrast to the control group, the researchers found that macaques that received remdesivir did not show signs of respiratory disease, and had reduced damage to the lungs.

Viral loads in the lower respiratory tract were also reduced in the treated animals; viral levels were around 100 times lower in the lower-respiratory tract of remdesivir-treated macaques 12 hours after the first dose, they said.

The researchers said that infectious virus could no longer be detected in the treatment group three days after initial infection, but was still detectable in four out of six control animals.

Despite this virus reduction in the lower respiratory tract, no reduction in virus shedding was observed, which indicates that clinical improvement may not equate to a lack of infectiousness, they said.

Dosing of remdesivir in the rhesus macaques is equivalent to that used in humans, the researchers noted.

They cautioned that it is difficult to directly translate the timing of treatment used in corresponding disease stages in humans, because rhesus macaques normally develop only mild disease.

However, researchers said the results indicate that remdesivir treatment of COVID-19 should be initiated as early as possible to achieve the maximum treatment effect.

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