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
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
May 10,2020

Washington D.C., May 9: Do the middle age feel much stressful now, and seems to have changed over time, if compared to the life in the 90s? Well, this recent study indicates that it might be true.

The study has signalled to the fact that life may become more stressful majorly for middle-aged people than it was in the 1990s. The researchers reached this analysis even before the novel coronavirus started sweeping the globe.

A team of researchers led by Penn State found that across all ages, there was a slight increase in daily stress in the 2010s compared to the 1990s. But when researchers restricted the sample to people between the ages of 45 and 64, there was a sharp increase in daily stress.

"On average, people reported about 2 percent more stressors in the 2010s compared to people in the past," said David M. Almeida, professor of human development and family studies at Penn State.

"That's around an additional week of stress a year. But what really surprised us is that people at mid-life reported a lot more stressors, about 19 percent more stress in 2010 than in 1990. And that translates to 64 more days of stress a year."

Almeida said the findings were part of a larger project aiming to discover whether health during the middle of Americans' lives has been changing over time.

"Certainly, when you talk to people, they seem to think that daily life is more hectic and less certain these days," Almeida said.

For the study, the researchers collected data from 1,499 adults in 1995 and 782 different adults in 2012.

Almeida said the goal was to study two cohorts of people who were the same age at the time the data was collected but born in different decades. All study participants were interviewed daily for eight consecutive days.

During each daily interview, the researchers asked the participants about their stressful experiences throughout the previous 24 hours.

They asked questions related to arguments with family or friends or feeling overwhelmed at home or work, so and so. The participants were also asked how severe their stress was and whether those stressors were likely to impact other areas of their lives.

"We were able to estimate not only how frequently people experienced stress, but also what those stressors mean to them," Almeida said.

"For example, did this stress affect their finances or their plans for the future. And by having these two cohorts of people, we were able to compare daily stress processes in 1990 with daily stress processes in 2010," Almeida added.

After analyzing the data, the researchers found that participants reported significantly more daily stress and lower well-being in the 2010s compared to the 1990s.

Additionally, participants reported a 27 percent increase in the belief that stress would affect their finances and a 17 percent increase in the belief that stress would affect their future plans.

Almeida said he was surprised not that people were more stressed now than in the 90s, but at the age group that was mainly affected.

"We thought that with economic uncertainty, life might be more stressful for younger adults. But we didn't see that. We saw more stress for people at mid-life," Almeida said.

"And maybe that's because they have children who are facing an uncertain job market while also responsible for their own parents. So it's this generational squeeze that's making stress more prevalent for people at mid-life," he concluded.

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Agencies
March 16,2020

New Delhi, Mar 16: A recent survey across 140 districts of the country shows that about 54 per cent of Indians are finding travelling to be unsafe as the deadly coronavirus (COVID-19) pandemic sweeps globally.

The big worry that people have is community transmission, something that researchers from around the world have approximated at 10 per cent of total infections and more common in places like Wuhan in China, South Korea, Iran and Italy.

The months of March to June have historically been high travel season for most Indians, largely due to the summer vacations in schools. "But it seems that Indians do not want to take a chance with this rather scary virus and are either cancelling or postponing their travel plans," concluded the survey by LocalCircles.

The survey gathered more than 22,000 responses from participants in tier one, two and three cities. It said 48 per cent Indians plan to cancel their international business travel for the next four months.

Besides, nearly 38 per cent of respondents said they had to pay cancellation fee to the website, travel agent, airline or railways.

"These are testing times for the entire travel and tourism industry -- airlines, hotels, travel agents as well as small tour and taxi operators. The best solution at this point is to adjust cost structures, stay flexible and work with a collective approach to minimise the period of impact to both citizens and business," said LocalCircles.

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