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
May 5,2020

The lockdown forced by the coronavirus in India has had some unexpected but positive fallouts: It has brought families together and reduced corporate politics, says an expert working in the field for the past decade.

"Today the whole world is on lockdown because of COVID-19, and all that we read, talk and hear is about life and death. We can't deny that the times are tough and the future is uncertain. But I would like to turn the coin and see the other side: the positive side," Shikha Mittal, Founder Director of Be.artsy told IANS in an interview.

Be.artsy is one of India's leading social awareness enterprises which deals with emotions at work and promotes arts as a communication tool for workplaces.

"In the 21st century, personally and professionally, people are practising politics over humanity, competition over collaboration, and have lost touch with themselves due to materialistic desires. During the lockdown, we are forced to confront our existing daily lives, and two interesting things that we can ponder upon, have emerged.

"First, have we ever looked at our family with the same lens as we are using today? What is it that we are doing differently with family today, and what can we do to carry our actions of today into our tomorrow? This is the premise of the #aajjaisakalcontest" that Be.artsy has launched across India.

The aim is "to encourage people to share one habit or life skill that they never practiced earlier, but post Covid-19 would like to continue and enjoy".

How did Be.artsy come about?

"I used to be in the corporate world, earning promotions and greater responsibility. However, the work conditions in those days were unfriendly to women and I had faced many instances of sexual harassment and workplace harassment in the six years of my corporate career. And that's when I had an epiphany."

Be.artsy's most popular programmes are on Prevention of Sexual Harassment (POSH) and on Financial Literacy which makes young people financially independent and better prepared to face the corporate world. "We know that a stitch in time (of planning for the future) saves nine (debt trap, dependence, health emergencies, expenses exceeding income, no savings, families without support, retirement in poverty, lost dreams, extravagance). This can only be achieved by sensitisation," Mittal explained.

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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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