Scientists work on list of hereditary diseases typical for Arctic peoples

They will make more accurate forecasts related to the human health conditions, prevention and control of such diseases, consequent disabilities and mortality both in Russia’s North-East and Arctic and in other regions

YAKUTSK, September 22. /TASS/. Experts of the North-Eastern Federal University in Yakutsk began putting together a list and a bio bank of the Arctic people’s hereditary diseases, the university’s leader of the Molecular Medicine and Human Genetics Laboratory, MD Nadezhda Maksimova, told TASS.

The project has won the Russian Ministry of Science and Higher Education’s competition among university scientific laboratories.

“Our laboratory, jointly with the medical-genetic center at the national medical center – regional hospital number 1, has been working on a registrar of hereditary and congenital pathology in the peoples of Arctic and Russia’s North-East, which will have a bio bank of annotated biology samples of all the patients with hereditary diseases and their families. The bio bank will be used to study the gene fund of the peoples in Russia’s North-East and Arctic,” the expert said, adding the project’s territory unites Yakutia and Chukotka.

The project’s task is to find solutions for the fundamental problems in medical genetics, which are related to studies into hereditary diseases. Scientists will make more accurate forecasts related to the human health conditions, prevention and control of such diseases, consequent disabilities and mortality both in Russia’s North-East and Arctic and in other regions.

The project’s results will be used in solving applied tasks of the medical genetics, scientists say. Experts plan to find new pathogenic mutations, nosological forms of monogenic hereditary diseases in Russia’s North-East and Arctic, their spread and prevalence per 100,000 people and reasons of high concentrations in a population. Scientists also plan to compare the data on Russia with the data on other countries.

Genetic screening program

In addition to the registrar and the bio bank, under this project scientists will offer and implement a program of regional screening to identify seven most popular genetic diseases.

“We suggest organizing a prenatal screening in the region,” the expert continued. “Presently, we conduct this screening jointly with the medical-genetic center at the national medical center – regional hospital number 1 without any special program and without additional financing. This year, for example, we have made about 2,000 tests. The current demand however is 10-15 thousand tests a year.”

The program could be supported by the North – Sustainable Development Territory scientific-educational center, which is being organized in Yakutia. “We expect the program will be supported by investors and the state, since it carries out a socially important task – a healthy genetic population of the Arctic,” the scientist added.

According to her, Canada, for example, has been offering the reproductive molecular-genetic screening. Couples or families undergo the test depending on national or ethnic origins. However, such screening programs could be done only if populations have been studied thoroughly.

“In our population this could be done, since we have major mutations, as they are called, which means the mutations are often. Thus, it could be effective. We could make sets focusing on our objectives,” she told TASS.

Rare disorders

Scientists have registered seven rare genetic disorders in the Yakuts. Every year appear up to 15 babies with such disorders. One of the diseases is tyrosinemia. “The treatment is well known, but it is expensive. A treatment program for a baby with such a disorder costs more than one million rubles ($13,700) a year. The disease is very serious, the child dies without treatment.”

Another ethno-specific genetic disorder is the SOPH syndrome, which causes stunting with atrophy of the optic nerves, the 3M syndrome – the so-called Yakut stunting syndrome, the congenital deafness of the first A-type and hereditary methemoglobinemia, lipofuscinosis neuronal ceroid of the 6th type with a fatal outcome in childhood.

Scientists know another hereditary disease, which affects metabolism (in this case, the metabolism means a process at the cellular level – not to be confused with metabolism in the entire body). In joint research by the North-Eastern Federal University (NEFU) and the Osaka University (Japan), which has been conducted since 2013, experts have identified a gene responsible for a disorder which develops in early childhood and leads to high infant and child mortality. Later, the described disease was named the mucopolysaccharidosis-plus syndrome.

The Russian university’s scientists in 2017 presented a bio chip for immediate identification of five hereditary disorders, typical for Yakutia. One blood drop is sufficient for a test. Under the classical method, the test processing takes about 48 hours, and with the bio chip results are available in just four hours. The bio chip is also cost-effective.

NEFU’s laboratory

The Molecular Medicine and Human Genetics Laboratory at the NEFU’s Medical Institute was opened in January 2020 not only for studies but for better training of specialists in medical genetics with the objective to improve life quality by using high medical technologies, and by complex clinical and epidemiological and molecular-genetic studies of hereditary disorders.

The laboratory analyzes major factors of population dynamics (gene drift, mutations, inbreeding, migration), clinical and molecular genetic features of hereditary diseases, their genetic epidemiology and gene geography. Its experts apply integrated approaches, which include modern methods in medical genetics studies, such as population-based, clinical and genealogical, diagnostic, demographic, molecular-genetic, and bioinformatics.

Internet Explorer Channel Network
News Related

OTHER NEWS

UNGA president slams 'unacceptable' vaccination rate among developing countries

Abdulla Shahid also believes that the international community, all 193 countries, have the capacity to immunize the entire world by the end of 2022 Read more »

WHO to decide on approval of Russian Sputnik V jab after last inspection

CEO of the RDIF Kirill Dmitriev expressed hope that the vaccine would be authorized by the WHO in the next couple of months Read more »

WHO resumes approval process for Sputnik V jab - Russian Direct Investment Fund

Meanwhile, RDIF CEO Kirill Dmitriev said in an interview with CNN that WHO experts were expected in Russia soon and that he was hopeful Sputnik V would be approved by the WHO within the next two months Read more »

Sharon Stone leaves fans breathless as she struts in stunning little black dress

Sharon Stone left fans gasping with another incredible fashion moment as she wowed social media with her latest post. MORE: Sharon Stone dazzles in sensational gold gown you need to ... Read more »

Theatre in spotlight over demands that staff educate themselves on white privilege

Roy Alexander Weise is the first black person to hold the position of artistic director at the Royal Exchange – Piers Allardyce/Shutterstock Theatre staff will be made to read about ... Read more »

Christine Lampard wears a totally wild dress to Jamie Redknapp's wedding

Are you off to a wedding in the foreseeable future? Not sure what to wear? Look no further than the fabulous Christine Lampard. READ: Christine Lampard wows Loose Women fans ... Read more »

Spotify and co. under fire in UK government investigation over industry power

Britain’s competition regulator plans to launch an examination of the music streaming market to see whether the likes of Spotify and co. are giving fans enough choice. The watchdog’s announcement ... Read more »

How not being 'bound by history' helped Copenhagen become the world's number one city for food

In early October, organisers of The World’s 50 Best Restaurants confirmed what many in gastronomy had known for years – there’s no beating the Vikings. By naming Copenhagen’s Noma and ... Read more »

Syrian refugee puppet Little Amal arrives in the UK to complete her journey

A giant puppet of a Syrian refugee child created to symbolize millions of displaced children has arrived in England on the last leg of its journey across Europe. The 11.5-foot ... Read more »

World's biggest book fair opens its doors in Frankfurt

After a ‘virtual break’ due to COVID last year, the world’s biggest book fair just kicked off its 73rd edition in Frankfurt. With 2,000 publishers from 80 countries presenting their ... Read more »

Hainan's Sanya is recognized as one of the healthiest cities in China

A special index takes into account the resources of the health care system, the services it provides, the extent to which the health of its residents is protected, the environment, and the overall health of the population Read more »

This week, Oslo's new Munch Museum finally opens to the public!

Oslo’s iconic Munch Museum is back and better than ever, following a multi-year, multi-billion kroner renovation. The museum revamp comes with a name change in tow. This is no longer ... Read more »

How our art critic ended up in the Beano: The Art of Breaking the Rules – review

What should a critic do? I’m sure there must be rules: don’t take backhanders from galleries. Don’t get too intimate with artists, especially not dead ones. Declare any conflicts of ... Read more »

The top photographs from the World Pano awards

The Epson Pano Awards‘ winning entries take you from the wetlands of Louisiana to a jellyfish-filled lake in the republic of Palau Curious travellers have spent a long period cut ... Read more »

A new educational program opened its doors in the experimental educational zone in Hainan

Some 86 students will take part in a one semester internship program in the framework of the project Read more »

Putin signs decree declaring non-working days from October 30 to November 7

The presidential decree comes into force on the day of its official publication Read more »

Three men and a literary lady: how the Planeta Literature Prize proved that pseudonyms still work

Earlier this week it was revealed that Carmen Mola, author of a number of widely praised Spanish crime thrillers and recipient of the world’s most expensive literary prize, was actually ... Read more »

Our favourite tiny airports from around the world

gustaf iii airport, st barts – Getty Airports are usually the low-point of any holiday, with queues, bad food, clinical strip lighting and, now, reams of documentation to contend with. ... Read more »

Ex-principal dancer at English National Ballet jailed for sexual abuse of female students

Former English National Ballet principal Yat-Sen Chang (PA Archive) A former principal dancer at the English National Ballet who sexually assaulted young female students has been jailed for nine years. ... Read more »

Nine hacks for making your half-term getaway as smooth as possible

Rome – Getty We are approaching by far the most ‘normal’ half term season since the beginning of the pandemic. Only seven countries are on the UK’s red list: Colombia, ... Read more »

Can I travel to India?

Unsplash ( ) In 2019, more than one million British nationals visited India. After closing its borders to foreign nationals in March 2020, India announced that it would grant tourist ... Read more »

Quentin Tarantino receives Lifetime Achievement Award at Rome Film Festival

American film director Quentin Tarantino, known for ‘Pulp Fiction, ‘Kill Bill’ and ‘Reservoir Dogs’, honoured with Lifetime Achievement Award at the Rome Film Festival. He was awarded by Italian horror ... Read more »

Erik Hillestad appointed as knight of the Royal Norwegian Order of St. Olav

Music producer Erik Hillestad has been appointed by King Harald as a knight 1st class of the Royal Norwegian Order of St. Olav for his efforts for the church and ... Read more »

COVID-19 deaths reach critical level in 17 Russian regions, Deputy PM says

Tatyana Golikova noted that the continued increase in mortality from COVID-19 causes particular alarm Read more »

Coronavirus situation in Russia becoming complicated — Putin

According to the Russian president, the low vaccination rate "predetermines the rapid spread of infection in many ways" Read more »

Kremlin knows about searches in house allegedly owned by Deripaska in US

Earlier, it was reported that the FBI had searched the homes of Deripaska's relatives in New York and Washington Read more »

Watch: Alexei Navalny wins Sakharov Prize, the EU's highest award for human rights work

Imprisoned Russian opposition leader Alexei Navalny has been awarded with the Sakharov Prize for Freedom of Thought, the European Union’s highest tribute to human rights defenders. The award was selected ... Read more »

Plan for Afghan students to study in Russia in near future — Lavrov

The Russian foreign minister pointed out that Moscow will continue to cooperate with Kabul to solve "pressing and urgent issues of the bilateral agenda" Read more »

Putin has not got revaccinated against COVID yet — Kremlin

"He will do it when the doctors inform him that it can be done," Dmitry Peskov clarified Read more »

Moscow's coronavirus situation deteriorating, says deputy mayor

Anastasia Rakova stressed that if this exponential growth of new cases was not stopped, then the available facilities in the capital would fail to suffice in a few weeks Read more »

Around 650,000 doctors are involved in helping COVID patients — Russian health minister

In Russia, according to the anti-coronavirus crisis center, 8,094,825 infections have been registered Read more »

Malta's secrets are best revealed on a small group tour like this one

Dghajsa skiff in Grand Harbour – MARKSTRATTON There has been much discussion of late about a brave new world of travel, reemerging slower-paced and more localised than it was prior ... Read more »

Rising football hooliganism needs to be tackled, warns Dutch FA

Photo: Depositphotos.com Even though fans have only just been allowed back into stadiums, football hooliganism is on the rise, football association KNVB has said. Some 45 investigations into trouble involving ... Read more »

London's Theatre Royal is bringing sticky, decadent Regency-era afternoon tea back to the West End

The most fitting place to enjoy a rich chocolate cake decorated in quirky green and pink-coloured icing must surely be a sumptuous Regency setting. One London theatre is making that ... Read more »

Dorian review – dizzying descent into Oscar Wilde's masterpiece

It might sound like a safe bet to christen a new theatre with a bit of Oscar Wilde, but this is a bold programming choice from artistic director Paul Stacey. ... Read more »

Yamas! On the retsina trail on the Greek island of Skopelos

Photograph: Hercules Milas/Alamy We’re high in the mountains above Skopelos town and there’s not a single Mamma Mia! fan in sight. A warm breeze stirs the trees, filling the air ... Read more »

Crimea unveils new record peak in daily COVID-19 cases

"In total, about 90,000 new cases have been confirmed since the onset of the pandemic, with 612 cases over the past 24 hours," Deputy Minister of Health of the Republic of Crimea Anton Lyaskovsky said Read more »

Man who allegedly planned to attack Rutte in court for pro forma hearing

The 22-year-old Amsterdammer accused of plotting to kill prime minister Mark Rutte will appear in court for a pro-forma hearing on Wednesday. The man is alleged to have tried to ... Read more »

Over 1,100 children of childcare benefit victims taken into care

Photo: Depositphotos.com Over 1,100 children whose parents were caught up in the childcare benefit scandal were taken into care between 2015 and 2020, figures from national statistics agency CBS have ... Read more »

Health chief does not expect winter curfews despite coronavirus case rise

Photo: DutchNews.nl New shop and school closures, or a curfew, are not likely to be imposed in the Netherlands this winter, despite the surge in new coronavirus cases, Jaap van ... Read more »
On free-english-test.com you will find lots of free English exam practice materials to help you improve your English skills: grammar, listening, reading, writing, ielts, toeic