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
February 4,2020

Despite tremendous advances in treatment of congenital heart disease (CHD), a new global study shows that the chances for a child to survive a CHD diagnosis is significantly less in low-income countries.

The research revealed that nearly 12 million people are currently living with CHD globally, 18.7 per cent more than in 1990.

The findings, published in The Lancet, is drawn from the first comprehensive study of congenital heart disease across 195 countries, prepared using data from the Global Burden of Diseases, Injuries and Risk Factors Study 2017 (GBD).

"Previous congenital heart estimates came from few data sources, were geographically narrow and did not evaluate CHD throughout the life course," said the study authors from Children's National Hospital in the US.

This is the first time the GBD study data was used along with all available data sources and previous publications - making it the most comprehensive study on the congenital heart disease burden to date.

The study found a 34.5 per cent decline in deaths from congenital disease between 1990 to 2017. Nearly 70 per cent of deaths caused by CHD in 2017 (180,624) were in infants less than one year old.

Most CHD deaths occurred in countries within the low and low-middle socio-demographic index (SDI) quintiles.

Mortality rates get lower as a country's Socio-demographic Index (SDI) rises, the study said.

According to the researchers, birth prevalence of CHD was not related to a country's socio-demographic status, but overall prevalence was much lower in the poorest countries of the world.

This is because children in these countries do not have access to life saving surgical services, they added.

"In high income countries like the United States, we diagnose some heart conditions prenatally during the 20-week ultrasound," said Gerard Martin from Children's National Hospital who contributed to the study.

"For children born in middle- and low-income countries, these data draw stark attention to what we as cardiologists already knew from our own work in these countries -- the lack of diagnostic and treatment tools leads to lower survival rates for children born with CHD," said researcher Craig Sable.

"The UN has prioritised reduction of premature deaths from heart disease, but to meet the target of 'ending preventable deaths of newborns and children under 5 years of age,' health policy makers will need to develop specific accountability measures that address barriers and improve access to care and treatment," the authors wrote.

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Agencies
March 11,2020

With the sales of chicken and mutton going down due to the coronavirus scare, it is the humble 'Kathal' (jackfruit) is emerging as an acceptable alternative.

'Kathal' is now selling at ₹120 per kilogram -- an increase of more than 120 per cent over the normal ₹50 per kilogram.

The jackfruit, in fact, is now priced higher than chicken which is selling at ₹80 per kilogram due to poor demand.

"It is better having a 'Kathal' biryani instead of a mutton biryani. It tastes reasonably good. The only problem is that 'Kathal' has been sold out in the vegetable market and is difficult to find," said Purnima Srivastava whose family savours non-vegetarian food on a regular basis.

The corona scare has hit poultry business so hard and the Poultry Farm Association recently organized a Chicken Mela in Gorakhpur to dispel the misconception that birds are carriers of the deadly virus.

"In fact, we gave away plateful of chicken dishes for Rs 30 to encourage people to savour the delicacies. We cooked one thousand kilograms of chicken for the Mela and the entire stock was sold out," said Vineet Singh, head of the Poultry Farm Association.

However, the Mela did not do much to dispel the fears about chicken, mutton or fish consumption amid the virus outbreak.

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Agencies
April 14,2020

There is no evidence that the Bacille Calmette-Guerin (BCG) vaccine, which is primarily used against tuberculosis, protects people against infection with the novel coronavirus, the World Health Organization (WHO) said.

The WHO therefore didn't recommend BCG vaccination for the prevention of COVID-19 in the absence of evidence, according to its daily situation report on Monday, Xinhua news agency reported.

"There is experimental evidence from both animal and human studies that the BCG vaccine has non-specific effects on the immune system. These effects have not been well characterized and their clinical relevance remains unknown," WHO stated.

Two clinical trials addressing the question are underway, and WHO will evaluate the evidence when it is available, it noted.

BCG vaccination prevents severe forms of tuberculosis in children and diversion of local supplies may result in an increase of disease and deaths from the tuberculosis, it warned.

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