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.
Agencies
July 2,2020

The American pharmaceutical giant Pfizer Inc. and the European biotechnology company BioNTech SE have conducted an experimental trial of a COVID-19 vaccine candidate and found it to be safe, well-tolerated, and capable of generating antibodies in the patients.

The study, which is yet to be peer-reviewed, describes the preliminary clinical data for the candidate vaccine -- nucleoside-modified messenger RNA (modRNA), BNT162b1.

It said the amount of antibodies produced in participants after they received two shots of the vaccine candidate was greater than that reported in patients receiving convalescent plasma from recovered COVID-19 patients.

"I was glad to see Pfizer put up their phase 1 trial data today. Virus neutralizing antibody titers achieved after two doses are greater than convalescent antibody titers," tweeted Peter Hotez, a vaccine scientist from Baylor College of Medicine in the US, who was unrelated to the study.

Researchers, including those from New York University in the US, who were involved in the study, said the candidate vaccine enables human cells to produce an optimised version of the receptor binding domain (RBD) antigen -- a part of the spike (S) protein of SARS-CoV-2 which it uses to gain entry into human cells.

"Robust immunogenicity was observed after vaccination with BNT162b1," the scientists noted in the study.

They said the program is evaluating at least four experimental vaccines, each of which represents a unique combination of mRNA format and target component of the novel coronavirus, SARS-CoV-2.

Based on the study's findings, they said BNT162b1 could be administered in a quantity that was well tolerated, potentially generating a dose dependent production of immune system molecules in the patients.

The research noted that patients treated with the vaccine candidate produced nearly 1.8 to 2.8 fold greater levels of RBD-binding antibodies that could neutralise SARS-CoV-2.

"We are encouraged by the clinical data of BNT162b1, one of four mRNA constructs we are evaluating clinically, and for which we have positive, preliminary, topline findings," said Kathrin U. Jansen, study co-author and Senior Vice President and Head of Vaccine Research & Development, Pfizer.

"We look forward to publishing our clinical data in a peer-reviewed journal as quickly as possible," Jansen said.

According to Ugur Sahin, CEO and Co-founder of BioNTech, and another co-author of the study, the preliminary data are encouraging as they provide an initial signal that BNT162b1 is able to produce neutralising antibody responses in humans.

He said the immune response observed in the patients treated with the experimental vaccine are at, or above, the levels observed from convalescent sera, adding that it does so at "relatively low dose levels."

"We look forward to providing further data updates on BNT162b1," Sahin said.

According to a statement from Pfizer, the initial part of the study included 45 healthy adults 18 to 55 years of age.

It said the priliminary data for BNT162b1 was evaluated in 24 subjects who received two injections of 10 microgrammes ( g) and 30 g -- 12 subjects who received a single injection of 100 g, and 9 subjects who received two doses of a dummy vaccine.

The study noted that participants received two doses, 21 days apart, of placebo, 10 g or 30 g of BNT162b1, or received a single dose of 100 g of the vaccine candidate.

According to the scientists, the highest neutralising concentrations of antibodies were observed seven days after the second dose of 10 g, or 30 g on day 28 after vaccination.

They said the neutralising concentrations were 1.8- and 2.8-times that observed in a panel of 38 blood samples from people who had contracted the virus.

In all 24 subjects who received two vaccinations at 10 g and 30 g dose levels, elevation of RBD-binding antibody concentrations was observed after the second injection, the study noted.

It said these concentrations are 8- and 46.3-times the concentration seen in a panel of 38 blood samples from those infected with the novel coronavirus.

At the 10 g or 30 g dose levels, the scientists said adverse reactions, including low grade fever, were more common after the second dose than the first dose.

According to Pfizer, local reactions and systemic events after injection with 10 g and 30 g of BNT162b1 were "dose-dependent, generally mild to moderate, and transient."

It said the most commonly reported local reaction was injection site pain, which was mild to moderate, except in one of 12 subjects who received a 100 g dose, which was severe.

The study noted that there was no serious adverse events reported by the patients.

Citing the limitations of the research, the scientists said the immunity generated in the participants in the form of the T cells and B cells of their immune system, and the level of immunity needed to protect one from COVID-19 are unknown.

With these preliminary data, along with additional data being generated, Pfizer noted in the statement that the two companies will determine a dose level, and select among multiple vaccine candidates to seek to progress to a large, global safety and efficacy trial, which may involve up to 30,000 healthy participants if regulatory approval to proceed is received.

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
July 7,2020

The World Health Organization (WHO) is reviewing a report that suggested its advice on the novel coronavirus needs updating after some scientists told the New York Times there was evidence the virus could be spread by tiny particles in the air.

The WHO says the Covid-19 disease spreads primarily through small droplets, which are expelled from the nose and mouth when an infected person breaths them out in coughs, sneezes, speech or laughter and quickly sink to the ground.

In an open letter to the Geneva-based agency, 239 scientists in 32 countries outlined the evidence they say shows that smaller exhaled particles can infect people who inhale them, the newspaper said on Saturday.

Because those smaller particles can linger in the air longer, the scientists - who plan to publish their findings in a scientific journal this week - are urging WHO to update its guidance, the Times said.

"We are aware of the article and are reviewing its contents with our technical experts," WHO spokesman Tarik Jasarevic said in an email reply on Monday to a Reuters request for comment.

The extent to which the coronavirus can be spread by the so-called airborne or aerosol route - as opposed to by larger droplets in coughs and sneezes - remains disputed.

Any change in the WHO's assessment of the risk of transmission could affect its current advice on keeping one-metre physical distancing. Governments, which also rely on the agency for guidance policy, may also have to adjust public health measures aimed at curbing the spread of the virus.

"Especially in the last couple of months, we have been stating several times that we consider airborne transmission as possible but certainly not supported by solid or even clear evidence," Benedetta Allegranzi, the WHO's technical lead for infection prevention and control, was quoted as saying in the New York Times.

WHO guidance to health workers, dated June 29, says that SARS-CoV-2, the virus that causes Covid-19, is primarily transmitted between people through respiratory droplets and on surfaces.

But airborne transmission via smaller particles is possible in some circumstances, such as when performing intubation and aerosol-generating procedures, it says.

Medical workers performing such procedures should wear heavy-duty N95 respiratory masks and other protective equipment in an adequately ventilated room, the WHO says.

Officials at South Korea's Centers for Disease Control said on Monday they were continuing to discuss various issues about Covid-19, including the possible airborne transmission. They said more investigations and evidence were needed.

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
March 25,2020

The practice of washing your hands for 20 seconds is one of the best preventive measures you can take to avoid the spread of any virus including coronavirus as recommended by the WHO.

The modern day concept of handwashing was introduced by Hungaraian doctor Ignaz Semmelweis, in 19-th century Vienna. Semmelweis proposed the practice of washing hands with chlorinated lime solutions in 1847 while working in the city's general hospital.

Decades later, in the modern times too the practise has not lost it's relevance. To connect with savvy consumers the message is being sent through social media? But social media can also be a dark place where misinformation is rampant; consumers can end up being misguided and compromised on sensitive issues like health and hygiene.

Dettol, recently kickstarted its #HandWashChallenge on TikTok aiming to raise awareness on four simple steps of handwashing. Strategically aimed at creating awareness among audience, a unique song has been created pairing it extremely well with the hashtag #HandWashChallenge. The hashtag filter has a branded Dettol strip across the top with the hashtag and names the steps involved in washing hands. The user can dance out the steps to the challenge and share it with their friends to further amplify the message on hygiene and safety.

Commenting on the same, Pankaj Duhan, Chief Marketing Officer, RB Health South Asia said, "We are elated with the response to the #HandWashChallenge, it has definitely become one of the most successfully led initiatives by any of our brands at RB. Understanding the consumer's mindset is of the utmost importance to us, therefore our campaign communication is built in a way that creates meaningful conversations to drive awareness amongst consumers. The participation by TikTok users across India has helped deliver the right message in a more engaging and interactive manner.

"I personally would like to encourage more and more people to join this global health & hygiene educational exercise. Together, let us all build a healthier nation, four steps at a time."

He further said, "Over the past couple of weeks we have witnessed a lot of misinformation floating around hygiene practices, especially over the internet. Realizing the gravity of the issue and being the responsible brand, we felt it was our prerogative to initiate this awareness campaign."

The campaign witnessed several quirky activities on each day leading to increased consumer interest. Joining the force were some of Bollywood's popular celebrities like Kartik Aaryan and Urvashi Rautela among several other TikTok influencers who have millions of followers on the platform. As part of Phase II, Dettol plans to take the challenge global by encouraging more users to participate while the audience worldwide.

The challenge has witnessed over 18 Billion views and generated over 123K user participation videos in one week of starting the campaign.

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.