Gene behind freckles, brown hair and blue eyes found

November 23, 2013

boards.weddingbee.comWashington, Nov 23: In the study of Icelanders, researchers uncovered an intricate pathway involving the interspersed DNA sequence, or non-coding region, of a gene that is among a few dozen associated with human pigmentation traits.

It is more common to find people with ancestors from geographic locations farther from the equator, such as Iceland, who have less pigment in their skin, hair and eyes.

The researchers, including scientists from the National Human Genome Research Institute (NHGRI), analysed data from a genome-wide association study (GWAS) of 2,230 Icelanders.

A GWAS compares hundreds of thousands of common differences across individuals' DNA to see if any of those variants are associated with a known trait.

"This study explains a complex molecular pathway that may also contribute insights into skin diseases, such as melanoma, which is caused by the interaction of genetic susceptibility with environmental factors," said NHGRI Scientific Director Dan Kastner.

Researchers focused on the interferon regulatory factor 4 (IRF4) gene, previously associated with immunity. IRF4 makes a protein that spurs production of interferons, proteins that fight off viruses or harmful bacteria.

The researchers noted from genomic databases that the IRF4 gene is expressed at high levels only in lymphocytes, a type of white blood cell important in the immune system, and in melanocytes, specialized skin cells that make the pigment melanin. The new study established an association between the IRF4 gene and the pigmentation trait.

"Genome-wide association studies are uncovering many genomic variants that are associated with human traits and most of them are found in non-protein-coding regions of the genome," said William Pavan, co-author and senior investigator, Genetic Disease Research Branch, NHGRI.

The Icelandic GWAS yielded millions of variants among individuals in the study. The researchers narrowed their study to 16,280 variants located in the region around the IRF4 gene.

They used an automated fine-mapping process to explore the set of variants in IRF4 in 95,085 people from Iceland. The data revealed that a variant in a non-coding, enhancer region that regulates the IRF4 gene is associated with the combined trait of sunlight sensitivity, brown hair, blue eyes and freckles.

The study was reported in the journal Cell.

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Agencies
June 27,2020

After admitting that the world may have a COVID-19 vaccine within one year or even a few months earlier, the World Health Organisation (WHO) on Friday said that UK-based AstraZeneca is leading the vaccine race while US-based pharmaceutical major Moderna is not far behind.

WHO Chief Scientist Soumya Swaminathan stated that the AstraZeneca's coronavirus vaccine candidate is the most advanced vaccine currently in terms of development.

"I think AstraZeneca certainly has a more global scope at the moment in terms of where they are doing and planning their vaccine trials," she told the media.

AstraZeneca's Covid-19 vaccine candidate developed by researchers from the Oxford University will likely provide protection against the disease for one year, the British drug maker's CEO told Belgian radio station Bel RTL this month.

The Oxford University last month announced the start of a Phase II/III UK trial of the vaccine, named AZD1222 (formerly known as ChAdOx1 nCoV-19), in about 10,000 adult volunteers. Other late-stage trials are due to begin in a number of countries.

Last week, Swaminathan had said that nearly 2 billion doses of the COVID-19 vaccine would be ready by the end of next year.

Addressing the media from Geneva, she said that "at the moment, we do not have a proven vaccine but if we are lucky, there will be one or two successful candidates before the end of this year" and 2 billion doses by the end of next year.

Scientists predict that the world may have a COVID-19 vaccine within one year or even a few months earlier, said the Director-General of the World Health Organization even as he underlined the importance of global cooperation to develop, manufacture and distribute the vaccines.

However, making the vaccine available and distributing it to all will be a challenge and will require political will, WHO chief Tedros Adhanom Ghebreyesus said on Thursday during a meeting with the European Parliament's Committee for Environment, Public Health and Food Safety.

One option would be to give the vaccine only to those who are most vulnerable to the virus.

There are currently over 100 COVID-19 vaccine candidates in various stages of development.

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Agencies
June 20,2020

At a time when the country is yet to recover from the shock of losing 20 Indian soldiers in a violent clash with the Chinese People's Liberation Army (PLA) troops in Ladakh's Galwan Valley, another shocker has come to light with news coming of a malware hitting the Indian Railways network and snooping its data for foreign countries, including train movements, sources in the intelligence agencies said on Friday.

Meanwhile, Railways Board Chairman V K Yadav said that the national transporter keeps on receiving malware security threats and the engineers in the railways keep on taking all precautions and keeps on updating the firewalls to prevent data theft.

The news comes a day after the Dedicated Freight Corridor Corporation Limited (DFCCIL) decided to terminate the 417-km signalling project worth Rs 471 crore with Chinese firm Beijing National Railway Research and Design Institute of Signal and Communication Group Company Limited (BNRRDISC) due to non-performance.

According to intelligence agency sources, the system of the Railways has been hit by the APT 36 Malware campaign. The source said that the intel agencies have also alerted the Railway Board to instantly disconnect the system with the Internet and change the password immediately.

The source said the APT 36 Malware is connected to Pakistan, which is a close ally of China. The source further said that following the red flag from the intel agencies, the system of a senior Principal Executive Director of the Railways, working in its vigilance department, has been taken for cleaning the malware threat.

As per the source, through the APT 36 Malware campaign, data stored in the Indian Railways systems were being stolen and stored in foreign locations, including the movement of the trains.

He further claimed that the APT 36 Malware also tried to take defence movement data. 

The source said the APT 36 Malware effect was reported from at least four systems of the Indian Railways.

Responding to queries, the Railways Board Chairman said: "Whether it is our systems or the IRCTC, we continuously update it with firewalls, and it is an ongoing process as we get the updates." 

Yadav said that our system is updated time to time. "We get malware threat on a regular basis. And we look at it continuously," he said. 

When pressed further about the malware threat in four railways systems, he said: "It has not come to our notice that some information has been leaked. Our systems are secure and our engineers keep on working on it."

According to intel sources, besides Railways, there was also malware threat in the defence, central police organisations, education and healthcare sectors, the source said.

In view of the threat, the intel agencies have asked the departments concerned to change the passwords of emails and online services from secure computers, format the hard-disk of the affected computers after taking back-up and re-install the operating systems and other softwares.

Sources in the Railways had said on Thursday that DFFCIL, which is looking after the work of the Dedicated Freight Corridor Project, has decided to terminate the tender with BNRRDISC.

A source in the Railway Ministry said that it has informed the Railway Board and the World Bank to take the final decision in the matter.

The source said the project was awarded to the Chinese firm in 2016 for signalling and telecommunication work on the 417-km Kanpur-Deen Dayal Upadhyaya section of the Eastern Dedicated Freight Corridor (EDFC). 

The source disclosed that the contract was awarded to the Beijing National Railway Research and Design Institute in June 2016. The source further said that even after four years, the progress in the project was only 20%. The issues that led to the termination of the project are reluctance by the company to furnish technical documents, as per the contract agreement, such as logic design of electronic interlocking.

The source further said that other issues like non-availability of their engineers and authorised personnel on site were a serious constraint. Even physical work could not progress as they have no tie-up with local agencies. 

The 3,373-km DFC, a flagship project of the Railways, aims to augment rail transport capacity to meet the growing requirement of movement of goods by segregating freight from passenger traffic.

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Agencies
February 26,2020

Feb 26: While too much stress can be toxic to your health, a new study suggests that despite its negative side effects, it may also lead to a surprising social benefit.

The research, published in the journal Stress & Health, found that experiencing stress made people both more likely to give and receive emotional support from another person.

This was true on the day they experienced the stressor as well as the following day.

"Our findings suggest that just because we have a bad day, that doesn't mean it has to be completely unhealthy," said study researcher David Almeida from Penn State University in the US.

"If stress can actually connect us with other people, which I think is absolutely vital to the human experience, I think that's a benefit. Stress could potentially help people deal with negative situations by driving them to be with other people," Almeida added.

For the study, the researchers interviewed 1,622 participants every night for eight nights. They asked the participants about their stressors and whether they gave or received emotional support on that day.

Stressors included arguments, stressful events at work or school, and stressful events at home.

The researchers found that on average, participants were more than twice as likely to either give or receive emotional support on days they experienced a stressor.

Additionally, they were 26 per cent more likely to give or receive support the following day.

The researchers said that while this effect, on average, was found across the participants, it differed slightly between men and women.

"Women tended to engage in more giving and receiving emotional support than men," said study researcher Hye Won Chai.

"In our study, men were also more likely to engage in emotional support on days they were stressed, but to a lesser extent than women," Chai added.

The researchers said they were surprised that stress was linked to people not just receiving emotional support, but giving it, as well.

"We saw that someone experiencing a stressor today actually predicted them giving emotional support the next day," Almeida said.

"This made me think that it's actually possible that stress helps to drive you to other people and allows it to be ok to talk about problems -- your problems, my problems," Almeida added.

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