Monthly Archives: May 2020

The new cosmic fear produced by COVID-19 has become a great challenge for mankind. The process of overcoming it is connected to a large extent with the establishment of effective cosmopolitan solidarity and humanely-oriented global medical surveillance with the aim of working out effective means to prevent fake news that traumatise the social consciousness, writes Sergey Kravchenko, Head of the Department of Sociology at MGIMO University.

According to Ulrich Beck, the global risks of the World Risk Society have the following three characteristic features: 1) delocalisation (their causes are not limited to one geographic location); 2) incalculability (their consequences are in principle incalculable); 3) non-compensability (human genetics makes possible irreversible interventions in human existence). All these features are seen in the risks of COVID-19 and they have even increased and become more complex. Thus, the delocalisation concerns not only the geographic location but also bio space: some scientists point to the proliferation of viruses that can move from animal to humans and back, making illnesses more difficult to cure. The incalculability has redoubled due to the fact that there are no commonly recognised methods to estimate them. Besides, we have to make do not only with the damage produced by real viruses but with the one made by their mystifications. I mean that many risks of COVID-19 are socially and culturally constructed; a lot of myths and fake news have appeared about their influence. The whole of humanity is observing the deaths of many people in real time. Some viewers may not even realise that their consciousness is being traumatised very often they accept exaggerated news as real that increases the effects of liquid fear (Bauman), which is now becoming global in nature. This blurs the distinction between the risks of COVID-19 and the cultural perception of them. The non-compensability depends not only on irreversible interventions in human body but on the incurable traumas of humanness and substantial rationality; the life-worlds of people.

At first sight, it seems the recognition of the complex risks posed by COVID-19 might lead to a kind of post-national sense of responsibility, give a start for elaborating a humanely oriented global system of medical surveillance, which is aimed at preventing different epidemics. Some political leaders argue that the consequences of the pandemic might unite the human inhabitants of the Earth after their years of confrontations.

However, the real picture is the reverse. In Europe and throughout the world, one can see disintegration, isolation, and even the rise of nationalism and xenophobia. The declared European values do not function. Reaction to risks presupposes decisions and actions. For Italians, the risks posed by COVID-19 are more important than other threats. Consequently, they expect the help from the European Union, but the organisation is paralysed and does not make decisions rendering the necessary medical, financial and monetary support. The difference in interests of practically all the countries of the European Union is evident. They do not only close their borders on quasi-laws but apply to a national mobilisation, stop the social and medical cooperation which is very acute for the management of the new global risks. Nothing is done to overcome the myths of the pandemic. Moreover, new enclaves with sick people have appeared.

At the same time, I believe that this tragic situation will not last forever, and we should think about the post-COVID-19 world. Here are some glimpses at the possible hopes and the visions of the future world. The consequences of the pandemic have not produced simply the growth of world disorder. The common challenges to humanity may foster the establishment of a completely new world order based on cosmopolitan ethics and solidarity. Certainly, the realisation of this depends on peoples agency, and the concrete humanely oriented deeds of the political leaders. A good example of it is Vladimir Putins idea to make humanitarian corridors. In order to realise this, Russia has already rendered medical help to China, Italy, the USA, and Serbia.

The countries and their elites have reacted differently to the risks of COVID-19, with positive and negative results. This will influence the characteristic features of the futures of these nations. Undoubtedly, in the nearest future, there will appear new political movements with demands for global medical surveillance and health security. Consequently, new leaders will come to power. Whether Vladimir Putin and Donald Trump are among them depends on the results of the struggle against COVID-19 and the effect of the pandemic on their countries. The challenges of the pandemic will change the essence of Europe as a turbulent and mighty continent. In order to limit the existing turbulence and achieve sustainable development, the new political leaders will pass over from confrontations to different forms of cooperation with a diverse array of actors on the world stage. It is highly likely that in the renewed European Union, China, which displayed achievements in overcoming the pandemics and rendered concrete support to different countries, will acquire a special friendly status. Consequently, there are basic grounds for re-establishing good political and economic relations between the West and Russia.

Certainly, the birth of the post-COVID-19 world will be difficult, perhaps, accompanied by a recession which, however, may become a significant factor of the new world order based on sharing economy, social solidarity and integral forms of freedom and disciplinary. I believe the fetishism of modesty in the consumption is being born. There have already appeared collective forms of consumption not only the sharing of cars, places of living but food and medicine sharing.

There are some trends toward the achievement of social justice and equality in the organisation of medical help. During the pandemic, the Norwegian authorities have done a lot in constructing the possibilities for all the people to have proper access to medical care. These practices might be developed in other countries. The significance of social insurance would be revised. Its high organisation in Germany helped to save the lives of many more patients if we compare it with other countries. The distant care systems based on digitalisation have proved their efficiency these activities should be extended.

It is necessary to re-discover the place and role of nations in world politics. In addition to the existing criteria (economic development, the possession of weaponry, etc.), new ones should be taken into consideration the power to effectively struggle with epidemics, to produce ecological and pharmacological safety for citizens, the possibility to re-orient the digital, from pragmatic consumerism to health care. Human rights should be extended, including the right to health care, safety, and a friendly environment.

The new cosmic fear produced by COVID-19 has become a great challenge to mankind. The process of overcoming it is connected to a large extent with the establishment of effective cosmopolitan solidarity and global humanely-oriented medical surveillance, with the aim to work out effective means to prevent fakes that traumatise the social consciousness. All these prepositions might make the emerging post-COVID-19 world more rational and humane.

See more here:
COVID-19 Pandemic: Global Risks of More Complex Character and the Visions of the Future World - Valdai Discussion Club

In April the company, based in Sunnyvale, California, sent covid-19 questionnaires out to a swath of its members. So far, says a company spokesman, about 400,000 have enrolled, including 6,000 who say they have confirmed cases of the pandemic disease.

The 23andMe gene hunt will complement efforts from university researchers to obtain genetic profiles of covid-19 cases and pair them with detailed medical records, says Andrea Ganna, who coordinates the Covid-19 Host Genetic Initiative. The international consortium is sharing genetic data on covid-19 cases from Italy, the UK, and the US and regularly making results public.

Scientists hope to find a gene that strongly influences, or even determines, how badly people are affected by the coronavirus. There are well-known examples of such genetic effects on other diseases: for example, sickle-cell genes confer resistance to malaria, and variants of other genes are known to protect people from HIV or to norovirus, an intestinal germ.

According to Ganna, however, an initial peek at the genes of 900 covid-19 cases turned up no significant genetic hits. His consortium is now preparing an analysis of twice as many cases, which could improve their chance of spotting an association.

If we dont find a really big signal in the next month or so, then I think genetics is not going to be of huge value in the management of the disease, like determining who you treat, he says. What is still very, very important is the biology, and understanding the biology through the genetics, and then with vaccination.

In its first survey, 23andMe asked customers if theyd been diagnosed with covid-19 or not. However, the company is now trying to locate patients who were hospitalized and recovered, because their genes are more likely to hold important information.

Researchers have already speculated that blood type could influence a persons version of ACE-2, the protein the coronavirus uses to fuse with human cells and gain access to them. But preliminary findings have not yet been borne out by the larger gene hunts.

The gene search is part of the scientific effort to move to more targeted ways of managing the pandemic, which some are calling precision epidemiology. In addition to 23ndMe, the DNA testing company Ancestry said it had received 250,000 responses in its own covid-19 project.

Read the original:
The secret to why some people get so sick from covid could lie in their genes - MIT Technology Review

The World Health Organization (WHO) has released new guidance on controversial challenge trials in which healthy volunteers would be deliberately infected with COVID-19.

So-called challenge trials could speed up vaccine development and have been used with other diseases such as malaria, typhoid and flu in the past. The main ethical concern with these trials for COVID-19 is that there is no known treatment if anything goes wrong.

After animal trials, vaccines are typically tested for safety and efficacy by comparing infection rates of a large group of people who have been given a vaccine against a large group of those who havent. As many people are practising self-isolation and social distancing during the current pandemic, it could take a very long time to find a large enough group of people who have been exposed to the virus to see whether a vaccine candidate would be effective or not. By deliberately infecting people with COVID-19, challenge trials allow this process to be sped up by relying on a smaller number of volunteers in order to see the results.

The WHO lists eight criteria that would need to be met for the approach to be ethically justified, including restricting participation to healthy people aged 18-30 and fully informed consent.

How challenge trials could speed up a COVID vaccine

Image: Eyal, N., Lipsitch, M., & Smith, P. G. (31 March 2020). Human Challenge Studies to Accelerate Coronavirus Vaccine Licensure. The Journal of Infectious Diseases.

Scientists in the UK have kick-started a research project that aims to understand whether a persons genetics may influence their susceptibility to COVID-19.

By comparing the full set of genes - or genomes - of 20,000 people currently or previously in hospital intensive care, with 15,000 people with mild symptoms, the researchers hope to understand the role of genes in symptom severity.

The results of the study - which will be shared globally - could help inform decisions about how to protect the most vulnerable members of society, and could reveal new approaches to treating the disease. The results of the first 2,000 genomes are expected in the next few weeks.

A study modelling the burden of SARS-CoV-2 in France has estimated that only 4.4% of the population, or 2.8 million people, have been infected so far. While this estimate is much higher than the number of cases confirmed through testing, it is too low for herd immunity to have an effect in controlling the pandemic. Preliminary results of Spains nationwide antibody survey (in Spanish), which collected samples from 36,000 households, appear to confirm these estimates with only 5% of the countrys population having developed antibodies.

Herd immunity is the effect where if a large proportion of a population is immune to infection, the disease is less or unable to spread because transmission to uninfected individuals is blocked by those with immunity.

A graphic representation of how herd immunity can prevent or slow the spread of disease through a population

Image: Tkarcher / CC BY-SA

A research group at George Washington University has for the first time mapped the virtual battleground between pro- and anti-vaccine movements on Facebook - with alarming results.

Although anti-vaccine pages are less followed than pro-vaccine pages, there are more of them, they are growing more quickly and becoming better connected to undecided pages. The study found that if the current trends continue, 10 years from now online discussion will be dominated by anti-vaccine views.

While the study did not consider sentiment towards a COVID-19 vaccine, at a time when the only permanent exit strategy for the pandemic is a vaccine, it will be more important than ever for the benefits of vaccination to be clearly communicated.

The study's network map showing how anti-vaccination Facebook pages are more central, numerous and connected than pro-vaccine pages.

Image: Johnson, N.F., Velsquez, N., Restrepo, N.J. et al. The online competition between pro- and anti-vaccination views. Nature (2020)

The role of normal conversation in spreading COVID-19

A new study suggests that talking might play a role in spreading infectious diseases such as COVID-19, just like coughing or sneezing. Published this week in The Proceedings of the National Academy of Sciences, the study shows that talking can propel thousands of droplets that can remain suspended in the air for between eight and 14 minutes. Although undertaken in a controlled environment that might not be reflective of everyday conditions where rooms are better ventilated, the results strengthen the case for precautions such as wearing masks and maintaining physical distance in confined spaces.

License and Republishing

World Economic Forum articles may be republished in accordance with our Terms of Use.

Written by

Alice Hazelton, Programme Lead, Science and Society, World Economic Forum

Greta Keenan, Programme Specialist, Science and Society, World Economic Forum

Sam Leakey, Programme Specialist, Science and Society, World Economic Forum

The views expressed in this article are those of the author alone and not the World Economic Forum.

Originally posted here:
COVID-19: top science stories of the week on 15 May - World Economic Forum

A group of researchers based at Rothamsted Research, one of the oldest agricultural research institutions in the world, has responded to a request from the White House, Microsoft, Mark Zuckerberg and others to find a way to rapidly sift through the mountain of COVID-19 scientific data.

Taking time off fromtheir own research, the Rothamsted teamrepurposeda tool they had originally developed to help crop scientists, to provide medical researchers with quick and intuitive access to all documented linkages between genes, medicines, and the virus.

By bringing together COVID-19 related data in one place, the hope is that this will speed up the international search for useful drugs, stop researchers repeating work done elsewhere, avoid harmful interventions, and ultimately, help pave the way to a vaccine.

A US Government-backed call had urged the worlds artificial intelligence experts to develop new text and data mining techniques that could help the science community answer urgent questions related to the deadly outbreak.

Project leader, Dr Keywan Hassani-Pak, originally developed the KnetMiner software to support scientists studying complex plant traits and diseases but together with his team, quickly realized the potential of it to help aid coronavirus research.

Using KnetMiner, medical researchers can now search for genes and keywords, visualize connections between biological concepts and explore knowledge relating to the new coronavirus and COVID-19 disease.

Users can search for drugs related to coronavirus and explore the surrounding connected data. Alternatively, they can investigate what pathways the drugs affect and visualize if any negative downstream effects may be present with using the drug in certain diseased populations.

The genetic component of how SARS-CoV-2 and the human body interact can also be explored.

The software links together almost 170,000 scientific articles, the majority with detailed information about human genes, plus SARS and COVID-19 related proteins, drugs and other medical conditions.

This works out at more than 1.6 million relationships between biological entities something that would take years of searching for, using conventional means.

We have connected the dots in the COVID-19 biomedical data and put the information in a machine-readable format and in context with human genetics, pathogen-host, and drug-target interaction data said Dr Hassani-Pak.

It was mid-March when The White House Office of Science and Technology Policy launched the COVID-19 call to action.

Over 500 scientists, software developers and clinicians joined forces in the COVID-19 virtual Biohackathon at the beginning of April to develop new tools for working with COVID-19 data.

Working from their homes, the team of Joseph Hearnshaw, Dr Marco Brandizi, Ajit Singh and Dr Keywan Hassani-Pak managed to develop the COVID-19 knowledge graph for KnetMiner in less than a month.

Dr Hassani-Pak said: I knew our technology was versatile, but to deliver this within such a short time scale was beyond my expectation and only possible due to a fantastic team and a global effort to make COVID-19 data openly available.

The newly developed biomedical resource offers developers and analysts the opportunity to use our data for new analyses and applications. A full download of our COVID-19 knowledge graph is available on request.

The COVID-19 KnetMiner is available atwww.knetminer.org/COVID-19.

The knowledge graph can be freely accessed through public RDF and Neo4j endpointshttps://github.com/Rothamsted/covid19-kg/blob/master/RawDataEndPoints.md

An example COVID-19 network can be explored and shared athttps://knetminer.com/beta/knetspace/network/424a2a44-24c2-4c2c-80bb-e3493b0de003

The datasets used to build the COVID-19 KG are athttps://knetminer.org/COVID-19/html/release.html

More here:
Rothamsted turn to harvesting coronavirus data - Lab News

Text Size:A- A+

The great flu pandemic of 1889 started in Russia, infecting more than half the inhabitants of Saint Petersburg, then spread rapidly through Europe. Its victims included Prince Albert Victor, the grandson of Queen Victoria. Americans felt safe for a few months until the first infections appeared in New York, and rail travel quickly spread it to other cities across the U.S. The pandemic ultimately killed 1 million people globally; it killed 13,000 in the U.S., which then had a population of 60 million.

I put quotes around flu because thats what, until 15 years ago, most historians and epidemiologists believed it was. Since then, research has uncovered evidence that the 1889 pandemic may actually have been caused by a coronavirus much like todaysSARS-CoV-2 one that leapt to humansfrom cows rather than bats. Indeed, observers of the 1889 pandemic noted a higher frequency of effects on the central nervous system than was typical for other influenza outbreaks. Such symptoms have been a marked feature of the current pandemic, with many people losing their sense of taste or smell, or suffering from brain swelling or immune-system attacks on nerve tissues.

If todays pandemic is a virtual replay of the past, then the 1889 pandemic may predict our future. After further yearly outbreaks through 1895, humans acquired partial immunity to the virus. It turned from a killer into simply one virus among many, mostly causing the common cold. Its still with us today.

Much ofwhat happenedin 1889 sounds eerily familiar. From a seemingly safe distance, U.S. newspapers reported on the rising death toll as the virus swept across Europe. After it reached the U.S., prominent public figures claimed it was nothing to worry about,just the common cold. Some health authorities suggested quinine as a treatment, leading medical specialists to warn about the dangers of self-medication. Those with underlying conditions such as heart disease or kidney problems were most at risk, and many cases of infection led rapidly to pneumonia.

Influenza was widely accepted as the cause of the 1889 pandemic for more than a century. But after the SARS epidemic in 1995 caused by a coronavirus named SARS-CoV biologists used modern gene-sequencing methods to begin comparing viruses infecting humans and other animals. The genetic perspective led to a very different hypothesis about the origin of the 1889 pandemic.

Also read: This is what 1918 Spanish Flu can teach India on how to tackle possible second Covid wave

In 2005, Belgian biologist Leen Vijgen was studying coronaviruses as a Ph.D. student. She and her colleagues founda very close genetic matchbetween one human coronavirus called OC43, and a frequent cause of the common cold and another coronavirus that infects cows but not people. The similarity suggested that these two viruses may well have both descended from a common ancestor, as two branches of a family tree.

The researchers also estimated how long ago this common ancestor might have existed, based on calculations of the rate of mutations, which account for their small genetic differences today. They found that their most recent common ancestor probably existed around 1890, when that virus jumped from one species to another. It could have been the cow virus jumping into a human, or vice versa. Vijgen and her colleagues argued that the former is more likely given other details of the genetics of human and bovine coronaviruses, as well as other closely related viruses.

Theres no smoking gun; the evidence is circumstantial. We may never know for sure, but our current predicament may be less unique than we tend to believe. If we dont find a vaccine, this coronavirus, like others before it, will ultimately infect most everyone, become less deadly as time goes on, and end up as a circulating nuisance causing seasonal colds.

Yet delaying its spread is still important. That delay will save lives as doctors gradually discover better ways to keep those who are infected alive. Bloomberg

Also read: India is Asias new coronavirus hotspot as it overtakes Chinas infection numbers

ThePrint is now on Telegram. For the best reports & opinion on politics, governance and more, subscribe to ThePrint on Telegram.

Subscribe to our YouTube channel.

More here:
The coronavirus crisis is a virtual replay of the past - ThePrint

Bangalore: The State Government will set up a committee to ensure co-ordination between the government and private firms that are engaged in research work to come up with solutions to control the spread of Covid-19 as well as a cure for it.

Deputy chief minister CN Ashwath Narayan on Thursday asked the IT/BT department to set up a committee at the earliest. The deputy chief minister took a decision to this effect after he visited Bengaluru Bio Innovation Centre.

About 45 startups are working at the innovation centre on projects to find a vaccine, medicine and quick testing technology for Covid 19, he said.

Narayan, who holds the IT/BT portfolio as well, interacted with the young entrepreneurs. "I am glad that all startups here are working to find a solution to the pandemic. Some are at clinical trial stage while a few have already applied for with the competent authorities for conducting tests, he remarked.

ROBOT AT WORK: He unveiled the Programmable Robot that would separate the Saliva from the swab in no time. The robot developed by SN Life Sciences has an ability to test eight different samples at a time, he said.

On the overall research work taking place at the innovation centre, he said: "This is a great sign for Bengaluru, Karnataka and India, he said adding that a quick solution will help to ensure a balance between life and livelihood.

He also commended the efforts Neuome Technologies which has a technology that enables on-the-spot testing within 5 minutes for asymptomatic as well as symptomatic cases.

Ashwath Narayan visited the Centre for Human Genetics and Bio Informatics and inspected the lab there.

Follow this link:
Covid-19 research: 45 Bengaluru startups working on medicine, testing methods and vaccine - Economic Times

SAN FRANCISCO--(BUSINESS WIRE)--Vitagene, the precision health company, announced the immediate availability of 50,000 FDA authorized Zero Contact at home COVID-19 test kits for use during the current public emergency. Vitagene is using the 1Health.io platform to facilitate compliance with FDA requirements for assessment of symptoms, telehealth and electronic tracking of the test kit.

Simple At-Home Testing: Currently, consumers who are showing symptoms of COVID-19 infection are expected to drive or take mass transit to a clinic or stay for hours in a drive-through testing line. With the Zero Contact COVID-19 test, patients will get a kit at home eliminating the need to drive or be at risk going to a clinical setting.

Our mission as a team is to help our customers improve their health and wellness, said Mehdi Maghsoodnia, CEO at Vitagene. Our customers number one need right now is access to COVID-19 testing. That is why our team, alongside our partners, have been working day and night to bring this test to market with physician approval, telehealth supervision and a clear chain of custody tracking.

Protect Healthcare Providers: The current COVID-19 tests require that the healthcare provider be in the same room as the patient with symptoms, creating risk of infection for the healthcare provider. Once the traditional specimen collection is conducted, the provider then needs to disinfect their garments to minimize the risk of cross contamination. With Zero Contact, both patients and healthcare workers need not be in the same place while the test is being administered.

Saliva vs. Nasal Testing: Saliva test kits are readily available today; in fact, Vitagene is committed to providing 50,000 tests in the first month of service and scaling that number to 300,000 tests per month beginning in middle of May 2020. Additionally, Vitagene has partnered with supply chain manufacturers to provide the kits, which are manufactured in the U.S., supporting our economy and providing local employment.

Our new, efficient, and self-contained saliva collection kits using the EUA approved SDNA-1000 device, makes not only sample collection easy but sample transport as well, said Stephen Fanning. CEO of Spectrum Solutions. The proprietary preservation solution inactivates the virus once a biosample is collected to the point that we are able to suspend and stabilize the viral RNA transcripts for sensitive and specific qPCR testing by the lab. Another incredible benefit of our process is that we can help limit undue exposure making the testing for COVID-19 safer for everyone involved.

Convenient Access to Testing: Today, many communities do not have convenient access to hospitals or other testing facilities. This - combined with limited nasal test availability - has led to only ~1 percent of people being tested in the U.S. to date. In order to decrease and manage the health and economic risks of COVID-19, we need access to widespread testing. Now, anyone who thinks that he or she might have been exposed can go to Vitagene.com and start the process of being tested.

Our saliva-based test kit makes it possible for patients across the United States to have access to testing, not just those located near a hospital, clinic or testing facility. said Andrew Brooks, chief operating officer and director of technology development at the university's RUCDR Infinite Biologics lab. Millions of Americans, who until now might have to travel hours to their nearest testing location, can be sent a test by their doctor or clinic.

For more information or to order a Zero Contact COVID-19 test, please visit http://www.vitagene.com.

###

ABOUT VITAGENE

Headquartered in San Francisco, California, Vitagene Incorporated and its platform division 1health.io are focused on helping consumers improve their health and lifestyle. Vitagene leverages the latest science in machine learning and data analytics, as well as genomics, to provide actionable health plans to consumers. Vitagene keeps all data private and secure and does not share or sell data to third parties. Vitagene has a team of accomplished engineers, scientists and physicians dedicated to improving the health of its customers. To learn more, go to https://vitagene.com/.

ABOUT RUCDR

RUCDR Infinite Biologics, which is part of Rutgers' Human Genetics Institute of New Jersey, is the world's largest university-based cell and DNA repository. Its mission is to understand the genetic causes of common, complex diseases and to discover diagnoses, treatments and cures for them. The organization collaborates with researchers in the public and private sectors throughout the world, providing the highest quality bio-banking services and biomaterials, as well as scientific and technical support. For more information, please visit https://www.rucdr.org/.

ABOUT SPECTRUM SOLUTIONS AND SPECTRUM DNA

Headquartered in Salt Lake City, Utah, Spectrum Solutions and its medical device and services division, Spectrum DNA, focus on innovative, end-to-end product development, manufacturing, and global fulfillment solutions. With concentrated industry expertise, Spectrum DNA specializes in engineering innovative molecular diagnostic solutions that simplify the biosample collection process while offering donors complete physical and digital chain-of-custody. With on-site production facilities, we are a single-source provider of full-service medical device manufacturing, custom and private label packaging, kitting, and direct-to-donor global fulfillment. Our new biosample collection devices, patented technology, and services provide measurable process optimization, unprecedented efficiency, and unmatched global scalability. For more information, please visit https://spectrumsolution.com/.

View original post here:
Vitagene Launches The First FDA Authorized Saliva based Zero Contact COVID-19 At Home Test - Business Wire

A mutation in the RAD51 gene causes congenital mirror movement disorder (CMM), a disease that prevents the hands from moving independently. This gene could enable scientists to better understand the mechanisms underlying manual motor activity.

Congenital mirror movement disorder is a rare disease that is passed from generation to generation. Those affected do not have the ability to perform different gestures at the same time with both hands: When one hand performs a movement, the other hand automatically performs the same movement against the will of the affected person.

In this disease, it is therefore strictly impossible to have a motor activity with two hands like playing the piano. Sometimes these phenomena can be observed in children, but they usually disappear spontaneously before the age of 10, probably due to the maturation of the motor neuron networks. However, in people with this syndrome, the symptoms appear from early childhood and remain unchanged throughout life.

Read Also: Temple University: Spinal Cord Injury and Optic Nerve Damage Repaired With Growth-Regulating Molecule

In 2010, researchers in Quebec discovered a gene responsible for the disease by analyzing the genome of members of a large Canadian family. Mutations had been identified in the DCC gene (Deleted in Colorectal Cancer). Following this discovery, the Inserm and CNRS research team, as well as doctors from Paris hospitals, coordinated by Emmanuel Flamand-Roze, therefore searched for mutations in this gene in several members of a French family suffering from the congenital disease of mirror movement: without success. The DCC gene was intact, explains Emmanuel Flamand-Roze. When we thought we were close to a cure, we had to look for a mutation in another gene, he adds. His results will be published in the American Journal of Human Genetics.

Using an approach that combines conventional genetic analysis and what is known as global exome sequencing (a new generation genetic analysis technique that allows the sequencing of all the major parts of the genome), the researchers were able to show that the RAD51 gene is responsible for Congenital mirror movement disorder in a large French family and confirmed this result in a German family suffering from the same disease.

The RAD51 gene was known in the scientific community for its potential role in the development of certain cancers and the phenomenon of resistance to chemotherapy, explains Emmanuel Flamand-Roze. So we tried to see if it might have another function that could explain the motor symptoms of this disease.

Read Also: Antibiotics May Increase Your Risk of Having Parkinsons Disease

The human motor system is cross-organized, with the left hemisphere of the brain controlling the motor capacities on the right side and vice versa, with a cross-over in the brainstem. By studying the expression of the protein RAD51 during the development of the motor system in rats, the researchers discovered that this gene might be involved in the crossing of the motor pathways connecting the brain with the spinal cord at the brainstem level.

This discovery opens up a completely new field of research to understand the development of the motor system and to better understand the brain mechanisms that control bimanual motor skills. It could shed light on other motor disorders associated with changes in the fine organization of movement, such as dystonia, or on certain genetic disorders of neurological development.

References

RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans

More:
Congenital Mirror Movement Disorder Caused by a Mutation in the RAD51 Gene French Study Shows - Gilmore Health News