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
March 25,2020

The practice of washing your hands for 20 seconds is one of the best preventive measures you can take to avoid the spread of any virus including coronavirus as recommended by the WHO.

The modern day concept of handwashing was introduced by Hungaraian doctor Ignaz Semmelweis, in 19-th century Vienna. Semmelweis proposed the practice of washing hands with chlorinated lime solutions in 1847 while working in the city's general hospital.

Decades later, in the modern times too the practise has not lost it's relevance. To connect with savvy consumers the message is being sent through social media? But social media can also be a dark place where misinformation is rampant; consumers can end up being misguided and compromised on sensitive issues like health and hygiene.

Dettol, recently kickstarted its #HandWashChallenge on TikTok aiming to raise awareness on four simple steps of handwashing. Strategically aimed at creating awareness among audience, a unique song has been created pairing it extremely well with the hashtag #HandWashChallenge. The hashtag filter has a branded Dettol strip across the top with the hashtag and names the steps involved in washing hands. The user can dance out the steps to the challenge and share it with their friends to further amplify the message on hygiene and safety.

Commenting on the same, Pankaj Duhan, Chief Marketing Officer, RB Health South Asia said, "We are elated with the response to the #HandWashChallenge, it has definitely become one of the most successfully led initiatives by any of our brands at RB. Understanding the consumer's mindset is of the utmost importance to us, therefore our campaign communication is built in a way that creates meaningful conversations to drive awareness amongst consumers. The participation by TikTok users across India has helped deliver the right message in a more engaging and interactive manner.

"I personally would like to encourage more and more people to join this global health & hygiene educational exercise. Together, let us all build a healthier nation, four steps at a time."

He further said, "Over the past couple of weeks we have witnessed a lot of misinformation floating around hygiene practices, especially over the internet. Realizing the gravity of the issue and being the responsible brand, we felt it was our prerogative to initiate this awareness campaign."

The campaign witnessed several quirky activities on each day leading to increased consumer interest. Joining the force were some of Bollywood's popular celebrities like Kartik Aaryan and Urvashi Rautela among several other TikTok influencers who have millions of followers on the platform. As part of Phase II, Dettol plans to take the challenge global by encouraging more users to participate while the audience worldwide.

The challenge has witnessed over 18 Billion views and generated over 123K user participation videos in one week of starting the campaign.

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Agencies
January 11,2020

Europe, Jan 11: Researchers have revealed the people who drink tea at least three times a week have healthy years of life and longer life expectancy.

The research was published in the European Journal of Preventive Cardiology, a journal of the European Society of Cardiology (ESC).

Dr Xinyan Wang, who is the author of the study, said: "Habitual tea consumption is associated with lower risks of cardiovascular disease and all-cause death. The favourable health effects are the most robust for green tea and for long-term habitual tea drinkers."
The analysis that was conducted included about 100,902 participants of the China-PAR project2 with no history of heart attack, stroke, or cancer.

Participants were classified into two groups: Habitual tea drinkers and never or non-habitual tea drinkers and followed-up for a median of 7.3 years.

The analyses estimated that 50-year-old habitual tea drinkers would develop coronary heart disease and stroke 1.41 years later and live 1.26 years longer than those who never or seldom drank tea. Compared with never or non-habitual tea drinkers, the habitual tea consumers had a 20 per cent lower risk of incident heart disease and stroke, 22 per cent lower risk of fatal heart disease and stroke, and 15 per cent decreased risk of all-cause death.

The potential influence of changes in tea drinking behaviour was suspected in a subset of 14,081 participants with assessments at two-time points. The average duration between the two surveys was 8.2 years, and the median follow-up after the second survey was 5.3 years.

Habitual tea drinkers who maintained their habit in both surveys had a 39 per cent lower risk of incident heart disease and stroke, 56 per cent lower risk of fatal heart disease and stroke, and 29 per cent decreased risk of all-cause death compared to consistent never or non-habitual tea drinkers.

Senior author Dr Dongfeng Gu said: "The protective effects of tea were most pronounced among the consistent habitual tea drinking group. Mechanism studies have suggested that the main bioactive compounds in tea, namely polyphenols, are not stored in the body long-term. Thus, frequent tea intake over an extended period may be necessary for the cardioprotective effect."

In a subanalysis by type of tea, drinking green tea was linked with approximately 25 per cent lower risks for incident heart disease and stroke, fatal heart disease and stroke, and all-cause death. However, no significant associations were observed for black tea.
Dr Gu noted that a preference for green tea is unique to East Asia.

Two factors may be at play. First, green tea is a rich source of polyphenols which protect against cardiovascular disease and its risk factors including high blood pressure and dyslipidaemia. Black tea is fully fermented and during this process, polyphenols are oxidised into pigments and may lose their antioxidant effects. Second, black tea is often served with milk, which previous research has shown may counteract the favourable health effects of tea on vascular function.

Gender-specific analyses showed that the protective effects of habitual tea consumption were pronounced and robust across different outcomes for men, but only modest for women. Dr Wang said: "One reason might be that 48 per cent of men were habitual tea consumers compared to just 20 per cent of women. Secondly, women had a much lower incidence of, and mortality from, heart disease and stroke. These differences made it more likely to find statistically significant results among men."

She said: "The China-PAR project is ongoing, and with more person-years of follow-up among women the associations may become more pronounced."

In conclusion, the authors have found that randomised trials are required to validate the results and to illustrate nutritional guidelines and advice for lifestyle.

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Agencies
July 5,2020

The deadly coronavirus that entered India while there was still nip in the air has beaten rising mercury, humid conditions, unique Indian genome and has entered monsoon season with more potency as fresh cases are only breaking all records in the country.

India recorded a single-day spike of record 24,850 new coronavirus cases on Sunday, taking its total tally to 6.73 lakh corona-positive cases.

Top Indian microbiologists were hopeful in March that after the 21-day lockdown, as summer approaches, the rise in temperature would play an important role in preventing the drastic spread of COVID-19 virus in India.

Several virologists hinted that by June this year, the impact of COVID-19 would be less than what it appeared in March-April.

The claims have fallen flat as the virus is mutating fast, becoming more potent than ever.

According to experts, the novel coronavirus is a new virus whose seasonality and response to hot humid weather was never fully understood.

"The theory was based on the fact that high temperatures can kill the virus as in sterilisation techniques used in healthcare. But these are controlled environment conditions. There are many other factors besides temperature, humidity which influence the transmission rate among humans," Dr Anu Gupta, Head, Microbiologist and Infection Control, Fortis Escorts Heart Institute, told IANS.

There is no built-up immunity to COVID-19 in humans.

"Also, asymptomatic people might be passing it to many others unknowingly. New viruses tend not to follow the seasonal trend in their first year," Gupta emphasized.

Globally, as several countries are now experiencing hot weather, the World Health Organization (WHO) reported a record hike in the number of coronavirus cases, with the total rising by 2,12,326 in 24 hours in the highest single-day increase since COVID-19 broke out.

So far over 11 million people worldwide have tested positive for the disease which has led to over 5,25,000 deaths, according to data from Johns Hopkins University. The US remained the worst-hit country with over 28 lakh cases, followed by Brazil with 15.8 lakh.

According to Sandeep Nayar, Senior Consultant and HOD, Respiratory Medicine, Allergy & Sleep Disorders, BLK Super Speciality Hospital in New Delhi, whether temperature plays a role in COVID-19 infection is highly debated.

One school of thought said in the tropical regions of South Asia, the virus might not thrive longer.

"On the other hand, another school of thought has found that novel Coronavirus can survive in a hot and humid environment and tropical climate does not make a difference to the virus. According to them, this is what distinguishes the novel coronavirus from other common viruses, which usually wane in hot weather," stressed Nayar.

Not much has been studied in the past and no definite treatment or vaccine is available to date.

"Every day, new properties and manifestation of the disease come up. As of now, the only way to prevent this monster is by taking appropriate precautions. Hand hygiene, social distancing, cough etiquette and face masks definitely reduce spread of COVID-19 infection," Nayar told IANS.

Not just top Indian health experts, even Indian-American scientists had this theory in mind that sunshine and summer may ebb the spread of the coronavirus.

Ravi Godse, Director of Discharge Planning, UPMC Shadyside Pennsylvania in the US told IANS in April: "In the summer, the humidity can go up as well, meaning more water drops in the air. If the air is saturated with water and somebody sneezes virus droplets into such air, it is likely that the droplets will fall to the ground quicker, making them less infectious. So the short answer is yes, summer/sunshine could be bettera.

According to Dr Puneet Khanna, Head of Respiratory Medicine and Pulmonology, Manipal Hospital, Delhi, COVID-19 death rates are not too different in tropical countries but since the disease affected them late it was yet to show its peak in these areas.

"The virus can survive well in hot and humid countries and this is proven now," he stressed.

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