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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Agencies
January 25,2020

Washington D.C., Jan 25: A new study conducted by a team of researchers reveals why individuals who have a history of early life adversity (ELA) are disproportionately prone to opioid addiction.

The study conducted examined how early adversities interact with factors such as increased access to opioids to directly influence brain development and function, causing a higher potential for opioid addiction.

The study was lead by UCI researchers and was published in Molecular Psychiatry.

Tallie Z. Baram, MD, PhD, the Danette Shepard Chair in Neurological Sciences at the UCI School of Medicine and one of the senior researchers for the study, was on the take that the widely known factor genetics that plays major role in addiction vulnerability, cannot be solely held responsible for the recent rise in opioid abuse.

To further clarify, the researchers simulated ELA in rats by limiting bedding and nesting materials during a short, postnatal period of time.

In female rats, this led to striking opioid addiction-like characteristics including an increased relapse- behaviour, for example.

As observed in addicted humans, the rats were willing to work very hard (pay a very high price) to obtain the drug.

Baram said: "Ultimately, we found that conditions during sensitive developmental periods can lead to vulnerability to the addictive effects of opioid drugs, especially in females, which is consistent with the prevalence of ELA in heroin-addicted women."

These findings can be used to highlight the importance given to sex differences in future ELA-related studies on opioid addiction, and in future prevention or intervention strategies being developed to address the growing opioid crisis.

The study conducted examined how early adversities interact with factors such as increased access to opioids to directly influence brain development and function, causing a higher potential for opioid addiction.

The study was lead by UCI researchers and was published in Molecular Psychiatry.

The study found that unpredictable, fragmented early life environments may lead to abnormal maturation of certain brain circuits, which profoundly impacts brain function and persists into adolescence and adulthood.

Tallie Z. Baram, MD, PhD, the Danette Shepard Chair in Neurological Sciences at the UCI School of Medicine and one of the senior researchers for the study, was on the take that the widely known factor genetics that plays major role in addiction vulnerability, cannot be solely held responsible for the recent rise in opioid abuse.

To further clarify, the researchers implanted ELA in rats by limiting bedding and nesting materials during a short, postnatal period of time.

In female rats, this led to striking opioid addiction-like characteristics including an increased relapse- behaviour, for example.

As observed in addicted humans, the rats were willing to work very hard (pay a very high price) to obtain the drug.

Baram said: "Ultimately, we found that conditions during sensitive developmental periods can lead to vulnerability to the addictive effects of opioid drugs, especially in females, which is consistent with the prevalence of ELA in heroin-addicted women."

These findings can be used to highlight the importance given to sex differences in future ELA-related studies on opioid addiction, and in future prevention or intervention strategies being developed to address the growing opioid crisis.

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Agencies
June 19,2020

While coughing, fever and difficulty in breathing are common symptoms of COVID-19, a new case study has found that pink eye is also a reason to be tested for the disease.

The study, published in the Canadian Journal of Ophthalmology, determined that conjunctivitis and keratoconjunctivitis can also be primary symptoms of COVID-19.

The researchers noted that in March, a 29-year-old woman arrived at the Royal Alexandra Hospital's Eye Institute of Alberta with a severe case of conjunctivitis and minimal respiratory symptoms.

After the patient had undergone several days of treatment with little improvement -- and after it had been determined that the woman had recently returned home from Asia -- a resident ordered a COVID-19 test.

The test came back positive, according to the researchers.

"What is interesting in this case, and perhaps very different to how it had been recognised at that specific time, was that the main presentation of the illness was not a respiratory symptom. It was the eye," said Carlos Solarte, an assistant professor at the University of Alberta in Canada.

"There was no fever and no cough, so we weren't led to suspect COVID-19 at the beginning. We didn't know it could present primarily with the eye and not with the lungs," Solarte said.

Academic studies at the outset of the pandemic identified conjunctivitis as a secondary symptoms in about 10 to 15 per cent of COVID-19 cases, he said.

Since then, scientists have gained greater knowledge of how the virus can transmit through and affect the body's mucous membrane system, of which the conjunctiva -- the clear, thin membrane that covers the front surface of the eye -- is an extension.

While the finding provides important new health information for the public, it also makes eye exams more complicated for ophthalmologists and staff, the researchers noted.

"The patient in this case eventually recovered well without any issues. But several of the residents and staff who were in close contact with the patient had to be under quarantine," said Solarte.

"Fortunately, none who were involved in her care also tested positive," he said.

Patients coming into an eye clinic with conjunctivitis and keratoconjunctivitis are now treated as potential cases of COVID-19 and extra precautions are taken by staff, according to the researchers.

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