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Genes causing intellectual disabilities identified

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London, Sep 4: Researchers have discovered 15 genes that play a role in the development of intellectual disabilities.

Intellectual disabilities are often caused by a mutation that damages a gene responsible for protein production in cells thus preventing the associated protein from functioning properly.

In a number of disease-related genes, it is shown that a de novo mutation does not eliminate the gene, but probably alters its function.

To find out how often this mechanism is involved, researchers combined the gene mutations in Dutch patients with a large international database comprising de novo mutations in patients.

A de novo mutation is a genetic alteration that is present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilised egg itself during early embryogenesis.

The results of the study, published in the American Journal of Human Genetics, showed 15 genes in which mutations cluster closely together, 12 of which were associated with developmental disorders.

“With our method, we were able to detect genes in which mutations not so much eliminate as affect the gene in another way,” said Christian Gilissen, geneticist from Radboud University in Netherlands.

“We also found three new genes that are likely to play a role in the development of intellectual disabilities as well,” Gilissen added.

The de novo mutations that were found only change a very small part of a protein. The function of the protein remains largely, but not entirely the same.

“The mutations are more likely to affect superficial parts of the proteins. These disturb interactions with other proteins and cause problems,” Gilissen said.

The three newly-discovered genes playing a role in the development of intellectual disabilities provide new diagnostic possibilities for patients.

“It is important that we have discovered a mechanism that has not yet been a focus of study. We expect this mechanism to play a role in a much larger proportion of patients with intellectual disabilities.”

IANS

 

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Doctor who managed Goa’s only Covid hospital tests positive

The state currently has more than 900 active Covid-19 cases, with 17 fatalities linked to coronavirus.

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Dr Gomes

Panaji, July 13 : Dr. Edwin Gomes, who had emerged as the face of Goa”s Covid-19 treatment and care effort, and had served as the in-charge of medication of patients at the state’s only designated Covid-19 hospital, has tested positive for the viral infection, a government spokesperson said.

“Dr. Gomes has been admitted to a state government facility for doctors infected by coronavirus,” the spokesperson said.

Gomes, 58, is also the head of medicine at the state”s only medical college, the Goa Medical College, and had last week ended his unbroken 98-day shift at the designated Covid-19 hospital.

The state currently has more than 900 active Covid-19 cases, with 17 fatalities linked to coronavirus.

Chief Minister Pramod Sawant has said that “four to five” Covid-19 patients who died, were suffering from cancer. “Eight to 10 patients were above the age of 80 years, while one also died of liver failure. The death rate has increased due to co-morbid conditions,” Sawant told reporters at the State Secretariat.

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Disaster

Glenmark cuts Fabiflu price by 27%

On June 20, Glenmark announced that it received manufacturing and marketing approval from India”s drug regulator for FabiFlu, making it the first oral Favipiravir-approved medication in India for the treatment of mild to moderate COVID-19.

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Glenmark Fabiflu

New Delhi, July 13 : Glenmark Pharmaceuticals has announced that it has commenced a Post Marketing Surveillance (PMS) study on FabiFlu to closely monitor the efficacy and safety of the drug in 1000 Covid patients that are prescribed with the oral antiviral.

Further, Glenmark has announced a price reduction of 27 per cent for FabiFlu. The new MRP is Rs 75 per tab from the earlier Rs 103 per tab.

The price reduction has been made possible through benefits gained from higher yields and better scale, as both the API and formulations are made at Glenmark”s facilities in India, the benefits of which are being passed on to patients in the country.

Glenmark has successfully developed the active pharmaceutical ingredient (API) and the formulation for FabiFlu through its own in-house R&D team within the country, ensuring self-reliance with regard to long term production and manufacturing.

Commenting on these developments, Alok Malik, Senior Vice President & Head – India business, Glenmark Pharmaceuticals said, “We expect this post marketing surveillance study to shed more light on the drug”s clinical effectiveness and safety in a large cohort of patients prescribed FabiFlu. Our priority from the start of this pandemic has been to offer patients in India an effective treatment for COVID-19, while also ensuring accessibility to the masses.

“Our internal research shows us that we launched FabiFlu in India at the lowest market cost as compared to the cost of Favipiravir in other countries where it is approved. And now we hope that this further price reduction will make it even more accessible for patients across the country.”

Despite investing significantly in R&D, clinical trials and the manufacturing of FabiFlu (API and formulations), Glenmark has managed to keep the pricing of FabiFlu lower as compared to its price in other countries.

FabiFlu in India was originally launched at Rs 103 per tablet, while, its price in Indian Rupees is higher in the remaining countries like Rs 600 in Russia, Rs 378 in Japan, Rs 350 in Bangladesh and Rs 215 in China.

On June 20, Glenmark announced that it received manufacturing and marketing approval from India”s drug regulator for FabiFlu, making it the first oral Favipiravir-approved medication in India for the treatment of mild to moderate COVID-19.

The manufacturing and marketing approval was granted as part of accelerated approval process, considering the emergency situation of the COVID-19 outbreak in India. The approval”s restricted use entails responsible medication use where every patient must have signed informed consent before treatment initiation.

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Russia 1st nation to finish human trials for Covid-19 vaccine

There are at least 21 vaccines currently under key trials, according to the World Health Organisation (WHO).

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Covid 19 Vaccine

Moscow, July 12 : Russia has become the first nation to complete clinical trials of Covid-19 vaccine on humans, and the results have proven the medication’s effectiveness, the media reported on Sunday.

Chief researcher Elena Smolyarchuk, who heads the Center for Clinical Research on Medications at Sechenov University, told Russian news agency TASS on Sunday that the human trials for the vaccine have been completed at the university and they will be discharged soon.

“The research has been completed and it proved that the vaccine is safe. The volunteers will be discharged on July 15 and July 20,” Smolyarchuk was quoted as saying in the report.

There was, however, no further information on when this vaccine would enter commercial production stage.

Russia had allowed clinical trials of two forms of a potential Covid-19 vaccine developed by the Gamaleya National Research Center for Epidemiology and Microbiology on June 18.

The first vaccine, in the form of a solution for intramuscular administration, was carried out at the Burdenko Military Hospital.

Another vaccine, in the form of a powder for the preparation of a solution for intramuscular administration, was carried out at Sechenov First Moscow State Medical University.

The first stage of research on the vaccine at Sechenov University involved a group of 18 volunteers and the second group involved 20 volunteers.

After vaccination, all volunteers were expected to remain in isolation in a hospital for 28 days.

Earlier, results of the COVID-19 vaccine tests performed on a group of volunteers in Russia showed that they were developing immunity to the coronavirus.

“The data obtained by the Gamalei National Research Center for Epidemiology and Microbiology, proves that volunteers of the first and second groups are forming an immune response after injections of the vaccine against the coronavirus,” according to an earlier statement from the Russian Defense Ministry.

Russia has reported 719,449 cases and 11,188 deaths to date.

There are at least 21 vaccines currently under key trials, according to the World Health Organisation (WHO).

The overall number of global COVID-19 cases was nearing 12.7 million, while the deaths have increased to more than 564,000, according to Johns Hopkins University in the US.

As of Sunday morning, the total number of cases stood at 12,681,472, while the fatalities rose to 564,420.

The US accounted for the world’s highest number of infections and fatalities at 3,245,158 and 134,764. Brazil came in the second place with 1,839,850 infections and 71,469 deaths.

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