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
March 3,2020

Taking multiple courses of antibiotics within a short span of time may do people more harm than good, suggests new research which discovered an association between the number of prescriptions for antibiotics and a higher risk of hospital admissions.

Patients who have had 9 or more antibiotic prescriptions for common infections in the previous three years are 2.26 times more likely to go to hospital with another infection in three or more months, said the researchers.

Patients who had two antibiotic prescriptions were 1.23 times more likely, patients who had three to four prescriptions 1.33 times more likely and patients who had five to eight 1.77 times more likely to go to hospital with another infection.

"We don't know why this is, but overuse of antibiotics might kill the good bacteria in the gut (microbiota) and make us more susceptible to infections, for example," said Professor Tjeerd van Staa from the University of Manchester in Britain.

The study, published in the journal BMC Medicine, is based on the data of two million patients in England and Wales.

The patient records, from 2000 to 2016, covered common infections such as upper respiratory tract, urinary tract, ear and chest infections and excluded long term conditions such as cystic fibrosis and chronic lung disease.

The risks of going to hospital with another infection were related to the number of the antibiotic prescriptions in the previous three years.

A course is defined by the team as being given over a period of one or two weeks.

"GPs (general physicians) care about their patients, and over recent years have worked hard to reduce the prescribing of antibiotics,""Staa said.

"But it is clear GPs do not have the tools to prescribe antibiotics effectively for common infections, especially when patients already have previously used antibiotics.

"They may prescribe numerous courses of antibiotics over several years, which according to our study increases the risk of a more serious infection. That in turn, we show, is linked to hospital admissions," Staa added.

It not clear why hospital admissions are linked to higher prescriptions and research is needed to show what or if any biological factors exist, said the research team.

"Our hope is that, however, a tool we are working for GPs, based on patient history, will be able to calculate the risks associated with taking multiple courses of antibiotics," said Francine Jury from the University of Manchester.

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Agencies
May 2,2020

Clinician-scientists have found that Irish patients admitted to hospital with severe coronavirus (COVID-19) infection are experiencing abnormal blood clotting that contributes to death in some patients.

The research team from the Royal College of Surgeons in Ireland found that abnormal blood clotting occurs in Irish patients with severe COVID-19 infection, causing micro-clots within the lungs.

According to the study, they also found that Irish patients with higher levels of blood clotting activity had a significantly worse prognosis and were more likely to require ICU admission.

"Our novel findings demonstrate that COVID-19 is associated with a unique type of blood clotting disorder that is primarily focussed within the lungs and which undoubtedly contributes to the high levels of mortality being seen in patients with COVID-19," said Professor James O'Donnell from St James's Hospital in Ireland.

In addition to pneumonia affecting the small air sacs within the lungs, the research team has also hundreds of small blood clots throughout the lungs.

This scenario is not seen with other types of lung infection and explains why blood oxygen levels fall dramatically in severe COVID-19 infection, the study, published in the British Journal of Haematology said.

"Understanding how these micro-clots are being formed within the lung is critical so that we can develop more effective treatments for our patients, particularly those in high-risk groups," O'Donnell said.

"Further studies will be required to investigate whether different blood-thinning treatments may have a role in selected high-risk patients in order to reduce the risk of clot formation," Professor O'Donnell added.

According to the study, emerging evidence also shows that the abnormal blood-clotting problem in COVID-19 results in a significantly increased risk of heart attacks and strokes.

As of Friday morning, the cases increased to 20,612 cases in Ireland, with 1,232 deaths so far, according to the Johns Hopkins University.

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