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
June 28,2020

As the COVID-19 wave sweeps strongly across the country, including in Tamil Nadu, mental health experts say the pandemic has triggered panic attacks among those who tested positive for the virus, causing bouts of depression and even driving some to the brink of suicide.

According to experts, nervousness, fear of contamination, panic attacks, constant reassurance seeking behaviour, sleep disturbance, excessive worry, feelings of helplessness and probability of an economic slowdown are the major factors leading to depression and anxiety among the people.

Potential job losses, financial burden, uncertainty about the future and fears of running out of food and necessities add to the worries.

Online platforms too have seen a growing number of people seeking help for mental health issues, ranging from anxiety and loneliness to concerns over productivity and job loss since the outbreak of COVID-19.

Director of Institute of Mental Health here, Dr R Purna Chandrika said towards April end about 3,632 calls were received and psychiatric counselling was provided to 2,603 callers.

"We have dedicated services at our centres in the districts and the calls meant for government medical college hospitals are routed to the respective institutions," she said.

Due to heavy virus caseloads, making this city the major contributor to the state's tally, the Greater Chennai Corporation too started a free helpline to help residents cope up with stress during the pandemic.

"From the psychological perspective, we don't find a single human being who is not feeling some degree of stress or anxiety due to coronavirus. The intensity and impact varies from person to person," said Lt Col N T Rajan, director of Chennai-based Mastermind Foundation.

The organisation is involved in free counselling throughout India ever since the first case of the deadly virus was reported in the country.

The foundation's recommendation on not to deploy the vulnerable in the police force, especially those above 50 years and women personnel with children below five years for COVID-19 related duty, was accepted and implemented by the Punjab government.

Psychiatrists feel that further worsening situations could lead to severe mental health issues, even triggering suicidal tendencies.

"Further worsening depression may lead to severe mental health issues and suicidal tendencies," said Dr S Senthil Kumar, a psychiatrist.

However, not all of them require medicines, he added.

"The situation is serious. There should be counselling at three stages--on coping with the virus, how to face it if tested positive and how to face life once treated and discharged from the hospital," Rajan said.

Awareness was of paramount importance, he said and warned the pandemic could cause panic attacks while in hospital or drive them to the brink of suicide.

Tamil Nadu, one of the worst affected states with a virus count in excess of 74,000 as of Friday, has witnessed a few instances of suicides allegedly related to COVID-19.

Hari Singh, owner of popular 'Iruttu Kadai' halwa shop in Tirunelveli, allegedly died by committing suicide on Thursday after being tested positive for COVID-19. He was 80.

Earlier in May, two COVID-19 patients in their 50s allegedly committed suicide in separate instances, at the government hospitals they were admitted to for treatment.

In the city corporation limits, a three-member team comprising a psychiatrist, counsellor and a social worker work for the respective zones.

"We direct certain sections of people like those with withdrawal symptoms and people requiring pills, to visit the doctor at their corporation zonal at a specific time, for medicines," a health worker of the civic body said.

Health platform, Lybrate reported an increase of 180 per cent in online patient consultations related to mental health on its platform between March 1 and June 20 across the country.

The largest increase came from Mumbai and Delhi, followed by Pune, Ahmedabad, Chennai and Bengaluru.

The biggest jump was witnessed in the age group of 25 and 45 years.

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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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