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.

Comments

Add new comment

  • Coastaldigest.com reserves the right to delete or block any comments.
  • Coastaldigset.com is not responsible for its readers’ comments.
  • Comments that are abusive, incendiary or irrelevant are strictly prohibited.
  • Please use a genuine email ID and provide your name to avoid reject.
News Network
February 4,2020

Toronto, Feb 4: People who text while walking face a higher risk of an accident than those listening to music or talking on the phone, a study has found.

The study, published in the journal Injury Prevention, found that smartphone texting is linked to compromised pedestrian safety, with higher rates of 'near misses', and failure to look left and right before crossing a road.

Researchers from the University of Calgary in Canada call for a more thorough approach to exploring the impact of distracted pedestrian behaviours on crash risk.

Worldwide, around 270,000 pedestrians die every year, accounting for around a fifth of all road traffic deaths, according to the researchers.

'Pedestrian distraction' has become a recognised safety issue as more and more people use their smartphones or hand held devices while walking on the pavement and crossing roads, they said.

The researchers looked for published evidence to gauge the potential impact on road safety of hand-held or hands-free device activities.

This included talking on the phone, text messaging, browsing and listening to music.

From among 33 relevant studies, they pooled the data from 14 -- involving 872 people -- and systematically reviewed the data from another eight.

The analysis showed that listening to music wasn't associated with any heightened risk of potentially harmful pedestrian behaviours.

Talking on the phone was associated with a small increase in the time taken to start crossing the road, and slightly more missed opportunities to cross the road safely.

The researchers found that text messaging emerged as the potentially most harmful behaviour.

It was associated with significantly lower rates of looking left and right before or while crossing the road, and with moderately increased rates of collisions, and close calls with other pedestrians or vehicles, they said.

Texting also affected the time taken to cross a road, and missed opportunities to cross safely, but to a lesser extent, according to the researchers.

The review of the eight observational studies revealed that the percentage of pedestrians who were distracted ranged from 12 to 45 per cent, they said.

It also found behaviours were influenced by several factors, including gender, time of day, solo or group crossing, and walking speed.

The researchers acknowledge "a variety of study quality issues" which limit the generalisability of the findings.

"Given the ubiquity of smartphones, social media, apps, digital video and streaming music, which has infiltrated most aspects of daily life, distracted walking and street cross will be a road safety issue for the foreseeable future," the researchers noted.

"And as signage and public awareness campaigns don't seem to alter pedestrian behaviour, establishing the relationship between distracted walking behaviour and crash risk is an essential research need," they said.

Comments

Add new comment

  • Coastaldigest.com reserves the right to delete or block any comments.
  • Coastaldigset.com is not responsible for its readers’ comments.
  • Comments that are abusive, incendiary or irrelevant are strictly prohibited.
  • Please use a genuine email ID and provide your name to avoid reject.
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.

Comments

Add new comment

  • Coastaldigest.com reserves the right to delete or block any comments.
  • Coastaldigset.com is not responsible for its readers’ comments.
  • Comments that are abusive, incendiary or irrelevant are strictly prohibited.
  • Please use a genuine email ID and provide your name to avoid reject.
Agencies
May 23,2020

Food with high water content is highly prescribed by doctors to stay hydrated during the summers, a season that summons a wave of soaring temperatures, higher than 40-degrees.

A much-loved fruit in India, apples are hydrating heros' in such a situation. A heatwave can affect human health in a varied manner and to maintain ideal body temperature in this soaring summer, one must remain adequately hydrated, be protected from the sun and maintain hygiene.

Working professionals and people who must step out in summers, are prone to the heatwave impact. Pediatric experts and doctors agree on the benefits of drinking water and eating fruits, especially, apples. 'An apple a day, keeps the doctor away' is true as they are rich in a number of vitamins with great anti-inflammatory benefits and many other essential minerals. Washington Apple Commission spells how apples can prove to be a summer-friendly fruit.

People often don't realise the danger of exposing themselves to extreme heat. Older adults, young children, and people with chronic illnesses are most at greater risk for serious problems. The nutrition benefits of apples may help not only in avoiding such illnesses but may also protect against many such conditions.

As popular as apples are as a fruit, they are enriched in antioxidants, dietary fibers, vitamins and a range of other nutrients that are greatly beneficial in maintaining good health. The fruit is rich in soluble fibers which may help prevent several health conditions and may lower the risk of major diseases such as heat strokes, diabetes and cancer.

The soluble fiber also promotes weight loss and improves gut health. The prebiotic effects of apples help feed the good bacteria in the gut, thus, improving digestion.

Apples are made of 85 percent water and contain vitamins, fibres and antioxidants. A high fibre content is a particularly beneficial property of apples, as improper digestion is a major health concern in the tropical climatic region. Apples are also enriched in antioxidants that help protect the lungs from oxidative damage and help oxygen flow through the blood.

Apple-based recipes

Make interesting snacks, dessert, beverages and savoury meals with this miraculous fruit during summers.

Salted apple caramel galette

Caramel apples get a grown-up makeover with this Salted Caramel Apple Galette. Warm, gooey, and delicious, this pastry is loaded with apples and homemade caramel. It's a sophisticated take on a childhood favorite and since it's easier to make than pie, it's perfect for summer get-togethers.

Caramel apple pie ice-cream sandwiches

Nothing is better at a cookout on a warm day than a cold, refreshing ice cream sandwich. In Caramel Apple Pie Ice Cream Sandwiches, the comforting flavor of apple pie is recreated in a creamy frozen banana-based ice cream studded with apple and date pieces. Then that scoop of ice cream is sandwiched between two pieces of no-bake cinnamon oat cookie dough.

Comments

Add new comment

  • Coastaldigest.com reserves the right to delete or block any comments.
  • Coastaldigset.com is not responsible for its readers’ comments.
  • Comments that are abusive, incendiary or irrelevant are strictly prohibited.
  • Please use a genuine email ID and provide your name to avoid reject.