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 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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Agencies
April 4,2020

Washington D.C., Apr 4: While consuming a high-diet salt can result in high blood pressure, a recent study has revealed a link between salt-rich diet and weaker immune system.

The study was conducted under the leadership of the University Hospital Bonn, and the results were published in the journal Science Translational Medicine.

The research was conducted on mice that were fed a high-salt diet. Later, they were found to suffer from much more severe bacterial infections.

Human volunteers who consumed an additional six grams of salt per day also showed pronounced immune deficiencies.

The World Health Organization (WHO) has recommended a maximum amount of five grams of salt a day.

It corresponds approximately to one level teaspoon. In reality, however, many Germans exceed this limit considerably. 

Figures from the Robert Koch Institute suggest that on average men consume ten, and women more than eight grams a day.

This means that we reach for the salt shaker much more than is good for us. After all, sodium chloride, which is its chemical name, raises blood pressure and thereby increases the risk of heart attack or stroke.

"We have now been able to prove for the first time that excessive salt intake also significantly weakens an important arm of the immune system," said Prof. Dr. Christian Kurts from the Institute of Experimental Immunology at the University of Bonn.

This finding is unexpected, as some studies point in the opposite direction. For example, infections with certain skin parasites in laboratory animals heal significantly faster if these consume a high-salt diet.

The study also sheds light on the fact that the skin serves as a salt reservoir.

"Our results show that this generalization is not accurate," emphasized Katarzyna Jobin, lead author of the study.

The body keeps the salt concentration in the blood and in the various organs largely constant. Otherwise important biological processes would be impaired. The only major exception is the skin which functions as a salt reservoir of the body. This is why the additional intake of sodium chloride works so well for some skin diseases.

However, other parts of the body are not exposed to the additional salt consumed with food. Instead, it is filtered out by the kidneys and excreted in the urine.

"We examined volunteers who consumed six grams of salt in addition to their daily intake," said Prof. Kurts. This is roughly the amount contained in two fast-food meals, i.e. two burgers and two portions of French fries.

After one week, from the results, it showed that the immune cells coped much worse with bacteria after the test subjects had started to eat a high-salt diet.

In human volunteers, excessive salt intake also resulted in increased glucocorticoid levels.

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Agencies
January 16,2020

Thiruvananthapuram, Jan 16: Kerala Tourism on Wednesday shared a recipe of a popular meat dish in the Central Travancore region of Kerala, Beef Ularthiyathu, which is a special delicacy in the region.

Taking to its Twitter handle, the Kerala Tourism wrote, "Tender chunks of beef, slow-roasted with aromatic spices, coconut pieces, and curry leaves. A recipe for the most classic dish, Beef Ularthiyathu, the stuff of legends, from the land of spices, Kerala."

The State Tourism also shared the recipe of the delicacy with Twitteratis.

The tweet which has garnered 3.5 thousand likes so far had received a mixed response

While some said "beef is not Kerala's culture", others termed the recipe 'a match made in heaven".

Dr Vireandta Jilowa wrote, "Surprised to see it, that beef is being consumed despite BJP government in the Centre."

"We are not slaves of BJP at the Centre....people eat whatever they like in this state, including beef, pork, mutton and fish," another user Tatheesh Vijayakumar wrote.

In 2017, The Minister for Environment, Forest and Climate Change Harsh Vardhan had ordered that the ministry has notified the Prevention of Cruelty to Animals (Regulation of Livestock Markets) Rules, 2017 to ensure that the sale of cattle is not meant for slaughter purposes.

Regulating animal trade is a state business, but animal welfare is a central subject.

In lieu of this, there was widespread opposition of the order, with many states openly denying accepting the notification.

Porotta and Kappa biriyani with beef are counted as delicacies by Keralites. 

Also Read: The Art of Prepping Meat

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