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 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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Agencies
June 11,2020

The World Health Organisation (WHO) Director-General Tedros Adhanom Ghebreyesus said that more research needs to be done to better understand the extent to which COVID-19 is being spread by people who don't show symptoms.

"Since early February, we have said that asymptomatic people can transmit COVID-19, but that we need more research to establish the extent of asymptomatic transmission," the WHO chief said at a virtual press conference from Geneva on Wednesday, Xinhua news agency reported.

"That research is ongoing, and we're seeing more and more research being done," he added.

Saying that the world has been achieving a lot in knowing the new virus, the WHO chief told reporters that "there's still a lot we don't

"WHO's advice will continue to evolve as new information becomes available," he said.

Tedros stressed that the most critical way to stop transmission is to find, isolate and test people with symptoms, and trace and quarantine their contacts.

"Many countries have succeeded in suppressing transmission and controlling the virus doing exactly this," Tedros said.

Meanwhile, Michael Ryan, executive director of WHO Health Emergencies Program, said Wednesday that the COVID-19 pandemic is still evolving.

"If we look at the numbers... this pandemic is still evolving. It is growing in many parts of the world," he said. "We have deep concerns that health systems of some countries are struggling, under a huge strain and require our support, our help and our solidarity."

He said "each and every country has a different combination of risks and opportunities, and it's really down to national authorities to carefully consider where they are in the pandemic."

In Europe, the risk issue now are about travels and the opening of the schools, around risk management, mass gathering, surveillance and contact tracing, said the WHO official.

In Southeast Asian countries, where to a great extent transmissions have been under control, governments are more concerned about the re-emergence of clusters, while in South America, the issue of PPE for health workers has not gone away, said Ryan.

As regards Africa, Ryan said the death rates have been very low in the past week, but the health system can be overwhelmed, as it would have to cope with other diseases such as malaria.

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Agencies
May 25,2020

Singapore, May 25: COVID-19 patients are no longer infectious after 11 days of getting sick even though some may still test positive, according to a new study by infectious disease experts in Singapore.

A positive test "does not equate to infectiousness or viable virus," a joint research paper by Singapore's National Centre for Infectious Diseases and the Academy of Medicine, Singapore said. The virus "could not be isolated or cultured after day 11 of illness."

The paper was based on a study of 73 patents in the city-state.

The latest findings may have implications on the country's patient discharge policy. The discharge criteria is currently based on negative test results rather than infectiousness.

Singapore's strategy on managing COVID-19 patients is guided by the latest local and international clinical scientific evidence, and the Ministry of Health will evaluate if the latest evidence can be incorporated into its patient clinical management plan, according to a report by the Straits Times.

So far, 13,882, or about 45% of the total 31,068 Covid-19 patients in Singapore have been discharged from hospitals and community facilities. Singapore reported 642 new Covid-19 cases as of noon on Saturday.

The government has been actively screening pre-school staff as it prepares to reopen pre-schools from June 2. On Friday, two pre-school employees tested positive for the novel coronavirus, bringing the total number of confirmed cases among pre-school staff to seven, according to the Ministry of Health.

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