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Cystic Fibrosis worry for North Indians? Delhi hospital’s unexpected findings

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New Delhi: A pilot study on genetic research done by the Institute of Medical Genetics & Genomics of Delhi’s Sir Ganga Ram Hospital, which has been published in the BMC Medical Genetics of London, has thrown some startling results — unexpected high carrier frequency of Cystic Fibrosis revealed in genetic carrier screening of north Indian population by next generation sequencing technology.

For the first time a high carrier frequency of 4.5 per cent, which was 9 per 200, for Cystic Fibrosis (CF) has been revealed. Carrier frequency of 9 per 200 found in the study has an expected disease prevalence rate of 1:2000.

The reason it becomes interesting is because Cystic Fibrosis was considered to be very rare among the Indian population. This study not only shows prevalence of it, but also to a high extent.

The study also showed a high carrier frequency for genetic forms of Deafness and Pompe disease, among a cohort of 200 subjects from North India. The study was done in partnership with Medgenome Labs, Bengaluru.

Carrier status does not mean disease. If both husband and wife are carriers then there is a 25 per cent chance of their children suffering from the disease.

Based on this carrier rate, the prevalence of Cystic Fibrosis disease would be as high as one in 2,000 newborns. Cystic Fibrosis (CF) was considered to be very rare in the Indian subcontinent, but the current study shows its frequency to be higher than the West.

“Based on this study, Cystic Fibrosis should be added to beta thalassemia and spinal muscular disorders that should be screened in all pregnant women to prevent these diseases. It should also be added to the list of disorders for which newborn screening is being done. Sir Ganga Ram Hospital is planning to add CF to the existing newborn screening programme,” said I.C. Verma, Senior Consultant and Advisor at the Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital.

Meanwhile, Sunita Bijarnia-Mahay, Senior Consultant at the Institute of Medical Genetics & Genomics, said, “Our study also found that the disease-causing pathogenic variants in the Indian population were different from those commonly observed in the West. It is because of our unique system of marriages within same caste/community and presence of consanguineous marriages.”

Cystic Fibrosis is an inherited life-threatening disorder that damages the lungs and digestive system. It affects the cells that produce mucous, sweat and digestive juices. It causes these fluids to become thick and sticky. As a result, the respiratory passageways get blocked.

It is caused by a change in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). This gene controls the flow of salt and fluids in and out of cells. If this gene doesn’t work the way it should then a sticky mucus builds in the body.

Ratna Puri, Chairperson of Institute of Medical Genetics & Genomicsin, said, “This is a new finding and the high carrier frequency of Cystic Fibrosis shall be verified in a larger population sample soon.”

Patients with Cystic Fibrosis inherit mutated copies of genes from both the parents. If one inherits one copy, then the patient is asymptomatic but is a carrier. This means there is a chance he or she can pass it to the children, if his partner is also a carrier. There is no cure for Cystic Fibrosis, but medication and other therapies can ease the symptoms and prolong life.

The only way it can be prevented is by genetic screening.

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Earthquake of magnitude 4.1 strikes Jammu and Kashmir

They said while the tremors caused panic among people, there were no reports of any loss of life or injury or damage to property.

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Srinagar, Jan 16 : An earthquake of magnitude 4.1 hit Jammu and Kashmir on Saturday, but there was no report of any damage, officials said.

At 10:01 pm, the earthquake struck at a latitude of 33.03 degrees north and a longitude of 75.93 degrees east — 93 kms east of Katra, they added.

The depth of the earthquake was 10 kms, the officials said.

They said while the tremors caused panic among people, there were no reports of any loss of life or injury or damage to property.

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Covaxin consent form says vax administered without ph-3 trial

The vaccine is first offered to the healthcare workers, frontline workers and those above 50 years of age, followed by the below-50 population with comorbidities, and finally to the remaining population based on disease epidemiology and vaccine availability.

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New Delhi, Jan 16 : Amid the vaccinaton drive against Covid-19, it has emerged that there is a separate consent form for those who are administered the ‘Covaxin‘ vaccine manufactured by Bharat Biotech.

The form says that “In phase-1 and phase-2 clinical trial ‘Covaxin’ has demonstrated the ability to produce antibodies against Covid-19, however the clinical efficacy of Covaxin is yet to be established and it is still being studied in phase-3 clinical trial, hence it is important to appreciate that receiving the vaccine does not mean that the other precautions related to Covid-19 should not be followed.”

The form says that in case of any adverse and serious condition, the receiver will be provided utmost care at the health centre and in case of casuality the compensation will be provided by Bharat Biotech.

“The compensation for serious adverse event will be paid by sponsor BBIL if the SAE is proven to be casually related to the vaccine,” it said.

Serious concerns were raised in certain quarters including by opposition parties and Congress leader Manish Tewari has questioned the efficacy of ‘Covaxin’ while the Prime Minister has warned people not to believe in “rumours”.

The world’s biggest vaccination drive come almost a year after the first coronavirus case was detected in India, and since then the deadly virus has claimed over 1.5 lakh lives and infected one crore people. The first case came to the fore on January 30, 2020 in Kerala.

Two vaccines — the Oxford vaccine ‘Covishield’ manufactured by the Serum Institute of India, and indigenously developed ‘Covaxin’ by Bharat Biotech — will be administered to priority groups. So far, the central government has procured 1.1 crore Covishield and 55 lakh Covaxin vaccines at a cost of Rs 200 and Rs 206 per dose, respectively.

In Delhi, which has 81 vaccination sites, ‘Covaxin’ has been allotted to six Centre-run hospitals while 75 Delhi government and private hospitals will receive ‘Covishield’.

The vaccine is first offered to the healthcare workers, frontline workers and those above 50 years of age, followed by the below-50 population with comorbidities, and finally to the remaining population based on disease epidemiology and vaccine availability.

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Magnitude 6.7 Earthquake Hits Russia-Mongolia Border Region

The quake was at a depth of 10 kilometers

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AN earthquake of magnitude 6.7 struck the Russia-Mongolia Border Region on Tuesday, the GFZ German Research Center for Geosciences said.

The quake was at a depth of 10 kilometers, it added.

The epicenter of the earthquake was registered 277 kilometers southwest of the city of Angarsk, in the Russian Irkutsk region, and 30 kilometers from the Mongolian city of Turt, Russian state-owned news agency Sputnik reported. https://bit.ly/2XtgrJs

There were no immediate reports of damage or victims, the report said.

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