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
May 9,2020

17-year-old Pratyusha Jha, wakes up scrambling for newspapers these days to look for any news about her pending board exams and is anxious about what the future has in store for her.

Similar concerns are shared by Bipin Kumar, a class 12 student, who says the announcement of board exams from July 1 to 15 brought limited clarity as the larger questions remain unanswered.

The COVID-19 lockdown, came with a different set of concerns for class 12 students, whose board exams were postponed midway following the outbreak of coronavirus, putting on hold their future plans as well.

"Everyday I have been looking for news about the exams and about entrance exam dates. I feel unfortunate that this happened during the year I was supposed to take the big college leap. I don't want my future decisions to be shaped by this very year as what I opt to study now will remain with me lifelong," Pratyusha told PTI.

Ending some uncertainty for students, HRD Minister Ramesh Pokhriyal 'Nishank' on Friday announced that the pending class 10 and 12 board exams will be held from July 1 to 15. While class 12 exams will be conducted across the country, the class 10 exams are only pending in North East Delhi where they were affected due to the law and order situation.

"The anxiety doesn't end here, there is no date sheet yet. What will be the modalities of exams, how will we reach centres, what protocols have to be followed, there is no clarity on that. My friends and I keep calling our school teachers and also the CBSE helpline to seek some clarity," Bipin Kumar said.

Vaibhav Sharma, a class 12 student in Gurgaon said, "There is no clarity yet. I wanted to apply for DU, but now that the exams are taking place in July when will the results be declared, when will cut offs be announced. If I don't get a good college here, will I be able to travel to different cities for admission, nothing is known yet."

Similarly, for the students in northeast Delhi, the wait for the exams has become a "test of patience" as they were postponed first in the area due to law and order situation, and later due to the coronavirus outbreak, resulting in a four-month-long wait for the exams.

"It has become an endless wait and now I don't feel like studying too. Right from childhood, we are taught that board exams are too crucial and have to be focussed at least two years in advance. But now, it is a different picture altogether," Rani Kumari, a resident of Chandbagh said.

Universities and schools across the country have been closed and exams postponed since March 16 when the Centre announced a countrywide classroom shutdown as one of the measures to contain the COVID-19 outbreak.

Later, a nationwide lockdown was announced on March 24, which has now been extended till May 17.

The board was not able to conduct class 10 and 12 exams on eight examination days due to the coronavirus outbreak. Further, due to the law and order situation in North East Delhi, the board was not able to conduct exams on four examination days, while a very small number of students from and around this district were not able to appear in exams on six days.

The board had last month announced that it will only conduct pending exams in 29 subjects which are crucial for promotion and admission to higher educational institutions. The modalities of assessment for the subjects for which exams are not being conducted will be announced soon by the board.

The schedule has been decided in order to ensure that the board exams are completed before competitive examinations such as engineering entrance JEE-Mains, which is scheduled from July 18-23, and medical entrance exam NEET, which is scheduled on July 26.

The University Grants Commission (UGC) has issued guidelines to universities that new academic session for freshers will begin from September while for the existing students from August.

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Agencies
March 27,2020

New Delhi, Mar 27: The Centre has restricted sale and distribution of "hydroxychloroquine" declaring it as an essential drug to treat the COVID-19 patients and meet the requirements of emergency arising due to the pandemic.

The Ministry of Health and Family Welfare on Thursday made the announcement making it clear that the order "shall come into force on the date of its publication in the official Gazette".

In the order, the government declared that the Central government is "satisfied that the drug hydroxychloroquine is essential to meet the requirements of emergency arising due to pandemic COVID-19 and in the public interest, it is necessary and expedient to regulate and restrict the sale and distribution of the drug 'hydroxychloroquine' and preparation based thereon for preventing their misuse".

"Now, therefore, in exercise of the powers conferred by Section 26B of the Drugs and Cosmetics Act, 1940 (23 of 1940), the Central government hereby directs that sale by retail of any preparation containing the drug Hydroxychloroquine shall be in accordance with the conditions for sale of drugs specified in Schedule H1 to the Drugs and Cosmetics Rules, 1945."

The order came at a time when the novel coronavirus claimed 16 lives and infected over 600 people across India.

The announcement regarding ban of sale and distribution of the drug was made by the government earlier but it issued an official Gazette notification on Thursday signalling that hydroxychloroquine -- an anti-Malaria drug -- will work as a medicine for treating coronavirus infected patients as well.

Recently, the national task force for COVID-19 constituted by Indian Council for Medical Research (ICMR) has recommended hydroxy-chloroquine as a preventive medication.

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News Network
July 10,2020

Toronto, Jul 10: Pasteurising breast milk at 62.5 degrees Celsius for 30 minutes inactivates the SARS-CoV-2 virus that causes Covid-19, making it safe for consumption by babies, a study claims.

According to the research published in the Canadian Medical Association Journal, current advice for women with Covid-19 is to continue to breastfeed their own infants.

In Canada, it is standard care to provide pasteurised breast milk to very-low-birth-weight babies in hospital until their own mother's milk supply is adequate, the researchers said.

"In the event that a woman who is Covid-19-positive donates human milk that contains SARS-CoV-2, whether by transmission through the mammary gland or by contamination through respiratory droplets, skin, breast pumps and milk containers, this method of pasteurisation renders milk safe for consumption," said Sharon Unger, a professor at the University of Toronto in Canada.

The Holder method, a technique used to pasteurise milk in all Canadian milk banks at 62.5 degrees Celsius for 30 minutes, is effective at neutralising viruses such as HIV, hepatitis and others that are known to be transmitted through human milk, the researchers said.

In the latest study, the researchers spiked human breast milk with a viral load of SARS-CoV-2 and tested samples that either sat at room temperature for 30 minutes or were warmed to 62.5 degrees Celsius for 30 minutes.

They then measured for active virus, finding that the virus in the pasteurised milk was inactivated after heating.

More than 650 human breast milk banks around the world use the Holder method to ensure a safe supply of milk for vulnerable infants, the researchers said.

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