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
June 12,2020

Global poverty could rise to over one billion people due to the COVID-19 pandemic and more than half of the 395 million additional extreme poor would be located in South Asia, which would be the hardest-hit region in the world, according to a new report.

Researchers from King's College London and Australian National University published the new paper with the United Nations University World Institute for Development Economics Research (UNU-WIDER) said that poverty is likely to increase dramatically in middle-income developing countries and there could be a significant change in the distribution of global poverty.

The location of global poverty could shift back towards developing countries in South Asia and East Asia, the report said.

The paper, 'Precarity and the Pandemic: COVID-19 and Poverty Incidence, Intensity and Severity in Developing Countries,' finds that extreme poverty could rise to over one billion people globally as a result of the crisis.

The cost of the crisis in lost income could reach USD 500 million per day for the world's poorest people, and the intensity and severity of poverty are likely to be exacerbated dramatically.

The report said that based on the USD 1.90 a day poverty line and a 20 per cent contraction, more than half of the 395 million additional extreme poor would be located in South Asia, which would become the hardest hit region in the world mainly driven by the weight of populous India followed by sub-Saharan Africa which would comprise 30 per cent, or 119 million, of the additional poor.

The report added that as the value of the poverty line increases, a larger share of the additional poor will be concentrated in regions where the corresponding poverty line is more relevant given the average income level.

For instance, the regional distribution of the world's poor changes drastically when looking at the USD 5.50 a day poverty line the median poverty line among upper-middle-income countries.

At this level, almost 41 per cent of the additional half a billion poor under a 20 per cent contraction scenario would live in East Asia and the Pacific, chiefly China; a fourth would still reside in South Asia; and a combined 18 per cent would live in the Middle East and North Africa (MENA) and in Latin America and the Caribbean (LAC), whose individual shares are close to that recorded for sub-Saharan Africa.

India plays a significant role in driving the potential increases in global extreme poverty documented previously, comprising almost half the estimated additional poor regardless of the contraction scenario, the report said.

Nonetheless, there are other populous, low and lower-middle- income countries in South Asia, sub-Saharan Africa, and East Asia and the Pacific accounting for a sizeable share of the estimates: Nigeria, Ethiopia, Bangladesh, and Indonesia come next, in that order, concentrating a total of 18 19 per cent of the new poor, whereas the Democratic Republic of Congo, Tanzania, Pakistan, Kenya, Uganda, and the Philippines could jointly add 11 12 per cent.

Taken together, these figures imply that three quarters of the additional extreme poor globally could be living in just ten populous countries.

The report added that this high concentration of the additional extreme poor is staggering , although not necessarily unexpected given the size of each country's population.

On one hand, data shows that three of these ten countries (Ethiopia, India, and Nigeria) were among the top ten by number of extreme poor people in 1990 and remained within the ranks of that group until 2018.

Despite this crude fact, two of these countries have managed to achieve a sustained reduction in their incidence of poverty since the early 1990s, namely Ethiopia and India, reaching their lowest poverty headcount ratio ever recorded at about 22 and 13 per cent, respectively. Nonetheless, the potential contraction in per capita income/consumption imposed by the pandemic's economic effects could erase some of this progress.

The researchers are now calling for urgent global leadership from the G7, G20, and the multilateral system, and propose a three-point plan to address the impact of the COVID-19 on global poverty quickly.

Professor of International Development at King's College London and a Senior Non-Resident Research Fellow at UNU-WIDER Andy Sumner said the COVID-19 crisis could take extreme poverty back over one billion people because millions of people live just above poverty.

Millions of people live in a precarious position one shock away from poverty. And the current crisis could be that shock that pushes them into poverty.

Professor Kunal Sen, Director of UNU-WIDER said the new estimates about the level of poverty in the world and the cost of the COVID-19 pandemic to the world's poor are sobering.

We cannot stand by and see the hard work and effort of so many be eradicated. We will know what the real impact is in time, but the necessary action to ensure we achieve the Sustainable Development Goals by 2030 needs to be planned now, Sen said.

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News Network
March 5,2020

Bergen, Mar 5: Divorce of parents may impact the academics of children negatively, suggests a new study.

According to the study, parental divorce is associated with a lower grade point average (GPA) among adolescents, with a stronger association seen in teens with more educated mothers.

The study was published in the journal PLOS ONE.

Children and adolescents with divorced or separated parents are known to do less well in school than adolescents with nondivorced parents and to be less well-adjusted, on average, across a spectrum of physical and mental health outcomes.

In the new study, researchers used data from the youth@hordaland study, a population-based survey of adolescents aged 16-19 conducted in the spring of 2012 in Hordaland County, Norway.

19,439 adolescents were invited to participate and 10,257 agreed; of those, 9,166 are included in the current study.

Overall, adolescents with divorced parents had a 0.3 point lower GPA (standard error 0.022, p<0.01) than their peers.

Controlling for parental education reduced the effect by 0.06 points to 0.240 (SE 0.021, p<0.01). This heterogeneity was predominantly driven by maternal education levels, the researchers found.

After controlling for paternal education and income measures, divorce was associated with a 0.120 point decrease in GPA among adolescents whose mothers had a secondary school education level; a 0.175 point decrease when mothers had a Bachelor's level education; and a 0.209 point decrease when mothers had a Master's or PhD level education (all estimates relative to adolescents with a mother who had a basic level of education, such as ISCED 0-2).

Due to the cross-sectional structure of the study, researchers could not investigate specific changes between pre- and post-divorce family life, and future studies are needed to investigate potential mechanisms (such as reduced parental monitoring or school-involvement) which might drive this finding.

Nonetheless, this study provides new evidence that the negative association between divorce and teens' GPA is especially strong in families with more educated mothers.

"Among Norwegian adolescents, parental divorce was hardly associated with GPA among youth whose parents have low educational qualifications. In contrast, among adolescents with educated or highly educated mothers, divorce was significantly associated with lower GPA," said the authors.

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News Network
February 22,2020

Feb 22: The subjective feeling of well-being experienced by many people with the practice of meditation is associated with specific changes in the brain, according to a study which may lead to better clinical recommendations of the practice.

The study, published in the journal Brain and Cognition, examined the effects of the technique known as Transcendental Meditation (TM), which consists of the silent repetition of a meaningless sound.

In the study, the researchers from the IMT School for Advanced Studies Lucca in Italy, enrolled 34 healthy young volunteers and divided them in two groups.

They said the first group practised TM 40 minutes per day in two sessions of 20 minutes each, one in the morning and the other in the evening.

The second group, the scientists said, did not change its daily routine.

Using questionnaires, they also measured the anxiety and stress levels of all the participants at the beginning of the study, as well as the subjects' ability to manage stressful situations.

According to the researchers, the participants were also subjected to a functional magnetic resonance imaging (fMRI) brain scan, in order to measure the organ's activity at rest, and changes in the excitation among different cerebral areas.

They repeated the tests after three months, at the end of the study.

According to the study, the levels of anxiety and stress perceived by the subjects who followed the meditation program were significantly reduced in comparison with those of the volunteers who did not practice TM.

"Magnetic resonance imaging also shows that the reduction of anxiety levels is associated with specific changes in the connectivity between different cerebral areas, such as precuneus, left parietal lobe and insula, which all have an important role in the modulation of emotions and inner states," said study co-author Giulia Avvenuti from the IMT School for Advanced Studies Lucca.

"In the control group, instead, none of these changes was observed. The fact that Transcendental Meditation has measurable effects on the 'dialogue' between brain structures involved in the modulation of affective states opens new perspectives for the understanding of brain-mind relationships," said Pietro Pietrini, IMT School's Director, and co-author of the study.

"It also extends the results of recent research suggesting that drugs therapies and psychotherapy leverage on the same biological mechanism," Pietrini said.

According to the researchers, even a few months of practice of TM can have positive effects which can be correlated with measurable changes in the brain.

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