Daily Archives: February 25, 2017

Space Matter: Public (and Private) Space Stations – Paste Magazine

Posted: February 25, 2017 at 2:53 pm

Space Matter is a weekly column that delves into space science and the mechanics of spaceflight. From the latest discoveries in the universe around us to the fits and starts of rocket test flights, youll find analysis, discussion, and an eternal optimism about space and launching ourselves into the cosmos.

We all are aware that the International Space Station is out there, in low Earth orbitbut did you know that there are two other space stations up there as well? Or that the first private space station is currently in development? We have a rich history of space stations, from Skylab to Mir and beyond.

Americas first space station was Skylabwhich was never actually intended or built for that use. Skylab was actually the unused upper stage of a Saturn IVB rocket. It launched in 1973 aboard the last Saturn V rocket and hosted three manned missions before falling back to Earth in 1979. The retrofitted rocket stage was never intended to be a long-term space station, but it proved to Americans that humans can live and work in space. It also advanced space science considerably through its onboard workshop and solar observatory.

The Skylab space station. Photo courtesy of NASA

After Skylab, attention turned to the Space Shuttle program, which was launched on April 12, 1981. The orbiter fleet boasted a large payload bay that was perfect for conducting experiments in space. While we were focusing on a reusable space vehicle, the Russians were still using their trusty Soyuz capsules (still in use today) and instead turned their focus to building a space station.

Between 1971 and 1982, the Russians successfully launched six Salyut space stations. (Salyut 2 was unable to achieve a stable orbit, falling back into the atmosphere two weeks after launch). The last of these, Salyut 7 was in orbit from 1982 through 1991, with 10 manned visits over its lifetime. Through their experience with these space stations, the Russians became experts at living and working in space.

In 1986, the Russians launched Mir, the worlds first modular space station. This means that, much like the ISS, the station consisted of a core that was launched first. Over time, a total of six additional modules were launched and assembled in space, expanding the station over the years. It was on Mir that extended spaceflight became normal; expeditions generally lasted around six months (the same as the ISS).

The United States had plans to build a Mir counterpart: the Freedom space station. In the early 1980s, it was envisioned as a space-based destination at which orbiters could dock. Its cancellation (due to budget and design issues) was part of the reason the shuttle program came under such heavy fire: we spent an extraordinary amount of money to build a reusable space vehicle, but in the end, we had nowhere to actually send it.

The United States wasnt the only country with a desire to launch a space station; the European space agency was also interested in such an endeavor. Russia, in addition, was planning on launching Mir 2 to replace its aging space station. However, a space station is an expensive and difficult proposition, which led to the cooperative development of the International Space Station (among the United States, Russia, Japan, Canada, and the European Space Agency) in 1993, using Freedom and Mir 2 concepts as its core modules.

The International Space Station. Photo courtesy of NASA

The ISS has been in orbit since its launch in 1998; it has been continuously occupied since its first long duration crew arrived on Expedition 1 in November 2000. The station is funded through 2024 by both the U.S. and Russia (though that may be extended to 2028). Its unclear what will come next; Roscosmos (Russias space agency counterpart to NASA) made a statement in early 2015 that the U.S. and Russia had agreed to work on a follow-up space station, but NASA hasnt confirmed that statement.

Regardless of what happens with the future of the International Space Station, its clear that space stations are here to stay. China has launched two space stations: Tiangong-1 and Tiangong-2, which are both currently in orbit. Tiangong-1, designed as a prototype to test the rendezvous and docking of Chinese spacecraft, was only in use for two years. Its orbit is decaying, and it will reenter the atmosphere later this year.

Tiangong-2 is another test space station launched in late 2016, as China plans to launch a larger modular space station to rival the ISS in 2022 (in mission, if probably not in sizethe International Space Station is the most expensive object ever constructed). Tiangong-2 has only been visited oncea two-person crew stayed aboard the station for 30 days.

But its not China or Russia or the United States who are making headlines about space stationsits private companies. Could a private company launch a space station by the end of the decade? Its absolutely possible. Axiom Space, a company youve likely never heard of, is aiming to be the first company to build a private space station.

Axiom is planning on launching the Multi-Purpose Module in 2020, designed as an add-on for the International Space Station. Whether it is launched all at once or assembled in orbit remains to be seen; however, when its ready, it will fly to the ISS (yes, it will have its own engines). Their current plan is to dock it to, and therefore expand, the ISS. When the International Space Station eventually deorbits, the Multi-Purpose Module will undock and function as an independent, private space station.

Theres a lot of money in a private space station; the customers wouldnt be private individuals wanting to go to space (though that is an option). There are many countries that aspire to send their astronauts into orbit. The ISSs max capacity is eight astronauts, and because were all currently dependent on Soyuz to get us there, were further constrained. Russian Soyuz capsules can only hold three astronauts each. Once private human spaceflight is off the ground (primarily through SpaceXs Dragon), that will ease the transportation issues, but the destination constraints are still considerable. Thats where Axiom hopes to step in.

Whether public or private, space stations are here to stay. Lets hope that as the ability to get off of our planet and live and work in space becomes easier and more possible, it encourages all of us to set our sights on destinations beyond low Earth orbit.

Top photo courtesy of NASA/ESA

Swapna Krishna is a freelance writer, editor, and giant space/sci-fi geek.

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Genetic engineering could become terrorist weapon Bill Gates … – InterAksyon

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Reuters file photo

MUNICH Microsoft founder Bill Gates said at the Munich Security Conference that genetic engineering could be a terrorist weapon and may kill tens of millions of people.

The next epidemic could originate on the computer screen of a terrorist intent on using genetic engineering to create a synthetic version of the smallpox virus or a super contagious and deadly strain of the flu, Gates made the remarks on Saturday.

Having spent billions of U.S. dollars in a philanthropic drive to improve health worldwide, Gates said that bio-terrorism could kill more than 30 million people in less than a year.

Furthermore, he predicted that there is a possibility our globe will experience such an outbreak in the next 10 to 15 years.

Some intelligence agencies have noticed that the Islamic State has been trying to develop biological weapons at its bases in Syria and Iraq, according to the Guardian.

Although the threat seems tiny due to technological support and manpower, the pressure from bio-terrorism has become more and more realistic in the past years.

Getting ready for a global pandemic is every bit as important as nuclear deterrence and avoiding a climate catastrophe. Innovation, cooperation and careful planning can dramatically mitigate the risks presented by each of these threats, said Gates.

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Art Made with Human DNA Explores the Future of Genetics in Birmingham – Labiotech.eu (blog)

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Gene Craft: Art in the Biogenetic Ageopened this week at Birmingham Open Media (BOM) in the UK. Aiming to explore thesocial, economic and emotional implications of the most recent breakthroughs in genetics, the exhibition features two living art piecescreated with human DNAby bioartists Laurie Ramsell and Gina Czarnecki.

After theHuman Fertilisation and Embryology Authority (HFEA) approvedthe technology to create three-parent babies in the UK last December, many have started to question the broader implications of genetic technologies. The Gene Craft exhibition elaborates on this concept by presenting living artwork that makes visitors imagine a future of bioengineered beings built and controlled by humans.

The first piece is by British artist Laurie Ramsell,who explores the genetic relationship between humans and model organisms. One of them is the zebrafish, which is routinely used in research to understand basic molecular processes that can then be extrapolated to human biology.

Laurie Ramsells Homdanio Birminghamensis

Homdanio Birminghamensisis a sculpture taking the shape of a zebrafish embryo made from bacterial cellulose and the artists own DNA. The piecewas created in collaboration with professor and bioartist Simon Park. As part of the 100,000 Genomes Project, it is intended to raise public awareness about research into the human genome being pioneered at the University of Birmingham.

The second piece featured in the Gene Craft exhibition is Gina Czarneckis Heirloom, a living portrait of the artists daughters. Skin cells from the girls are cultured and grown onto glass casts of their faces, creating paper-thin portraits with their own DNA.

Gina Czarneckis Heirloom

Heirloom invites visitors to imagine a future where our own cells are grown on demand for medical applications. But, at the same time, it intends to highlight the ethical implicationsof these procedures regarding the ownership of our own biological materials.

Gene Craft: Art in the Biogenetic Age will be open until May 13 in Birmingham. During that time, the BOM gallery will host a series of talks and workshops to bring together artists and scientists and discuss the issues raised by the bioart pieces exhibited.

Images via BOM and Gina Czarnecki

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Professors Using DNA To Bridge Racial Divide, Focus On Our Similarities – CBS Local

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February 24, 2017 11:19 PM By Natasha Brown

PHILADELPHIA (CBS) Our region is filled with a mosaic of faces, diverse looks, ethnicities and languages abound.

Our differences are often pronounced, but professors at West Chester University are trying to start a different conversation, where diversity becomes more of a topic of finding similarities.

On campus, we met up with a group of curious students looking to delve into their ancestry. They found an outlet in Professor Anita Foemans diversity project.

The project started 10 years ago with a grant to look at diversity in a non-traditional way, Foeman said.

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A decade later and the availability and affordability of ancestry DNA tests has expanded her mission with students jumping at the chance to explore.

The way weve used it to get people to talk about race in a positive way, Foeman said. This project is humbling in that you start with yourself and the diversity within.

Some students have already gone through the process.

We went on a journey with these students as they began the process, submitting DNA samples, looking beyond the narrative theyve always been told about themselves. As they discover, there is more than meets the eye when they get their results.

I myself even decided to join in, exploring my own ancestry. After a few weeks, the ancestry DNA results were back. It was time for the big reveal.

My results: 59 percent African background and 40 percent European background. While one of the participants, Sarah, expected more Scandinavian roots, I didnt expect to find any.

Our results sparked lively conversations which is exactly the goal.

In our research so far, it doesnt change someones identity, but it does soften how they talk about race and diversity. At a time when headlines seem to suggest an ongoing racial divide in our country, Dr. Foeman is suggesting a new outlook, one DNA test at a time.

Natasha Brown is the Emmy Award-winning anchor for the weekend evening editions of Eyewitness News on CBS 3 and The CW Philly. Natasha joined CBS 3 as a general assignment reporter in December, 2002. She came to the station from Pittsbu...

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New tool to map RNA-DNA interactions could help researchers translate gene sequences into functions – Science Daily

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New tool to map RNA-DNA interactions could help researchers translate gene sequences into functions
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The tool, called MARGI (Mapping RNA Genome Interactions), is the first technology that's capable of providing a full account of all the RNA molecules that interact with a segment of DNA, as well as the locations of all these interactions -- in just a ...

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3Q: Behind the scenes of the National Academy of Sciences’ report on human genome editing – The MIT Tech

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When the National Academy of Sciences (NAS) released its Human Genome Editing Report last week, a wave of questions arose regarding the reports scientific and clinical implications. The report, which outlines criteria that should be met before allowing clinical trials involving germline editing to go forward, was issued in response to the promising research and clinical opportunities associated with powerful genome-editing tools such as CRISPR/Cas9.

Richard O. Hynes is a Daniel K. Ludwig Professor for Cancer Research at MIT, a member of MIT's Koch Institute for Integrative Cancer Research, and a former director of the Koch Institute's predecessor, the MIT Center for Cancer Research. Hynes, a co-chair of the NAS study committee that created the report, sat down to shed additional light on the reports recommendations and its impact on the future of genome editing.

Q: Why is a report like this needed now?

A: We are in the midst of an explosion of new research and clinical opportunities that can be enabled by genome-editing tools. Genome editing is now much easier, faster, cheaper, and more versatile than ever. Because this field is advancing so rapidly, the issues and concerns that genome editing raises needed to be seriously reviewed and addressed, alongside the development of the technology itself.

There are, of course, many technical questions such as what risks exist, how to reduce them, and how to regulate the different ongoing applications which need to be explored further, but there are plenty of societal questions as well. For example, should one allow enhancement or going beyond treatment and prevention of disease and disability? Should heritable germline editing be allowed, if and when it might become sufficiently reproducible, accurate, and safe? And if so, how would that affect societal attitudes toward disability, issues of equity and fairness, and concerns around creating a slippery slope that could lead to inappropriate applications?

The reports committee represented four continents and included scientists, clinicians, ethicists, lawyers, and public engagement experts, among others. Each member offered a unique perspective on how oversight guidelines should be crafted and regulated and how to further public discussion. We believe the resulting recommendations will have universal applicability across multiple countries and cultures, and we recommend a set of principles that could be incorporated into the regulation and oversight in any country pursuing human genome editing.

Q: What are the reports primary take-home points?

A: First, human genome editing in the contexts of basic laboratory research, and somatic gene therapy for the treatment and prevention of disease and disability are valuable and well-regulated. They should proceed under the existing oversight and regulatory norms.

Second, editing for purposes other than treatment or prevention of disease and disability should not be approved at this time. Public engagement and discussion on this topic should be actively promoted before advancing past these purposes, and specific funding should be allotted to support this.

Finally, while human heritable germline editing is not yet practicable and much further research is necessary before it could be considered for clinical trials, there are arguments for limited applications to prevent heritable disease should that become feasible. At the same time, there are technical, practical, societal, and ethical concerns that need to be addressed. The report lays out a set of stringent criteria that would need to be met for approval of any trial of heritable germline editing, and it recommends extensive public engagement in discussionsabout how to assess its implications before any such trials.

Q: Are there any misconceptions about the report that you would like to address?

A: Of course, there is always the potential for concern around these topics when they enter the public sphere, but this report is firmly grounded in existing ethical, scientific, and regulatory practices and in consultation with the individuals and communities who will be directly affected by this technology. I would say that the committee is not opening the door to human genome editing, but we are, so to speak, removing the padlock pending possible new applications. Furthermore, the report is recommending human applications only for purposes of treatment and prevention of disease or disability and not for any applications that go beyond that, such as enhancements.

We limited our recommendations to this because of concerns about making unnecessary, potentially risky edits aimed toenhance human capacities beyond what is necessary to treat a life-threatening or debilitating condition. Enhancement is a topic that needs more discussion and public engagement to assess societal attitudes. At this time, we say no to any germline enhancements. If technology moves forward to enable the possibility, our current recommendation would be that it should be used to enable healthy babies, notdesigner babies. We also have confidence in the current systems of regulation and decision-making based on risk/benefit analysis but believe it should incorporate more engagement with public opinion.

Overall, we have been pleased with the coverage of the report so far, and the public seems to be excited about the major acceleration of our understanding of human biology. There is real potential to combat many diseases, such as cancer and thousands of genetically inherited diseases, which affect a significant number of people in the global population. Somatic editing is already in clinical trials, and many more are yet to come that we will learn a great deal from particularly about efficacy, risks, and the impact of this modern form of gene therapy. Germline editing is not possible yet probably not for several years but it is time to think carefully about the implications while the technical aspectsare still being explored, rather than waiting until the decisions as to whether or not to proceed are imminent.

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Average life expectancy is set to increase in many countries by 2030 – Medical Xpress

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February 21, 2017 Credit: Peter Griffin/public domain

Average life expectancy is set to increase in many countries by 2030and will exceed 90 years in South Korea, according to new research.

The study, led by scientists from Imperial College London in collaboration with the World Health Organization, analysed long-term data on mortality and longevity trends to predict how life expectancy will change in 35 industrialised countries by 2030.

Nations in the study included both high-income countries, such as the USA, Canada, UK, Germany, Australia, and emerging economies such as Poland, Mexico and the Czech Republic.

The study, published in The Lancet and funded by the UK Medical Research Council, revealed all nations in the study can expect to see an increase in life expectancy by 2030.

The results also found that South Koreans may have the highest life expectancy in the world in 2030.

The team calculated life expectancy at birth, and predicted a baby girl born in South Korea in 2030 will expect to live 90.8 years. Life expectancy at birth for South Korean men will be 84.1 years.

The researchers also calculated how long a 65-year-old person may expect to live in 2030. The results revealed that the average 65-year-old woman in South Korea in 2030 may live an additional 27.5 years.

Scientists once thought an average life expectancy of over 90 was impossible, explained Professor Majid Ezzati, lead researcher from the School of Public Health at Imperial: "We repeatedly hear that improvements in human longevity are about to come to an end. Many people used to believe that 90 years is the upper limit for life expectancy, but this research suggests we will break the 90-year-barrier. I don't believe we're anywhere near the upper limit of life expectancy -if there even is one."

Professor Ezzati explained that South Korea's high life expectancy may be due to a number of factors including good nutrition in childhood, low blood pressure, low levels of smoking, good access to healthcare, and uptake of new medical knowledge and technologies.

French women and Swiss men were predicted to have the highest life expectancies at birth in Europe in 2030, with an average life expectancy of 88.6 years for French women and nearly 84 years for Swiss men.

The results also revealed that the USA is likely to have the lowest life expectancy at birth in 2030 among high-income countries. The nation's average life expectancy at birth of men and women in 2030 (79.5 years and 83.3 years), will be similar to that of middle-income countries like Croatia and Mexico. The research team say this may be due to a number of factors including a lack of universal healthcare, as well as the highest child and maternal mortality rate, homicide rate and obesity among high-income countries.

The UK's average life expectancy at birth for women will be 85.3 years in 2030. This places them at 21st in the table of 35 countries. The average life expectancy of a UK man meanwhile will be 82.5 years in 2030. This places them at 14th in the table of 35 countries.

The team also predicted a 65-year-old UK man in 2030 could expect to live an additional 20.9 years (12th in the table of countries), while a 65-year-old woman in the UK could expect to live an additional 22.7 years, up (22nd in the table of countries).

The research also suggested the gap in life expectancy between women and men is closing.

Professor Ezzati explained: "Men traditionally had unhealthier lifestyles, and so shorter life expectancies. They smoked and drank more, and had more road traffic accidents and homicides. However as lifestyles become more similar between men and women, so does their longevity."

Along with the US, other countries who may see only small increases in life expectancy by 2030 included Japan, Sweden and Greece, while Macedonia and Serbia were projected to have the lowest life expectancies at birth for women and men respectively in 2030.

Life expectancy is calculated by assessing the age at which people die across the whole population. For instance if a country has high childhood mortality rate, this will make average national life expectancy much lower, as would a country in which many young people die in injuries and violence.

Professor Colin Mathers, co-author from the World Health Organization explained: "The increase in average life expectancy in high income countries is due to the over-65s living longer than ever before. In middle-income countries, the number of premature deaths - i.e. people dying in their forties and fifties, will also decline by 2030."

The team developed a new method to predict longevity, similar to the methods used for weather forecasting, which takes into account numerous different models for forecasting mortality and life expectancy. All the predictions in the study come with some uncertainty range. For instance, there is a 90 per cent probability that life expectancy for South Korean women in 2030 will be higher than 86.7 years, and a 57 per cent probability that it will be higher than 90 years.

The researchers chose the 35 industrialised countries in the study as they all had reliable data on deaths since at least 1985. The team then used this data, together with their new methodology to predict life expectancy to 2030.

Professor Ezzati added that these results suggest we need to be thinking carefully about the needs of an ageing population: "The fact that we will continue to live longer means we need to think about strengthening the health and social care systems to support an ageing population with multiple health needs. This is the opposite of what is being done in the era of austerity. We also need to think about whether current pension systems will support us, or if we need to consider working into later life."

Other findings from the research include:

Explore further: A country's level of education correlates well with life expectancy at birth

Journal reference: The Lancet

Provided by: Imperial College London

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Average life expectancy is set to increase in many countries by 2030and will exceed 90 years in South Korea, according to new research.

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Average Life Expectancy Is Expected to Pass 90 for the First Time Ever – ScienceAlert

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If the measure of a good life is counted in years, the future looks bright, as the average life expectancy in many nations is set to climb.

A recent study has crunched the numbers on 35 industrialised countries from around the globe, and found their future populations will be living longer than today's in South Korea's case, potentially climbing as high as 90.

Statistically speaking, life expectancy is a measure of how long a newborn can be assumed to live.

Many things can affect this number as individuals face risks posed by diet; lifestyle habits such as smoking or drug use; infant mortality; access to healthcare; and traffic accidents.

A team led by scientists from Imperial College London working with the World Health Organisation ran data from a variety of countries through 21 different forecasting models, using the results to predict the life expectancy of citizens born in the year 2030.

The news is good for most of the countries, with life expectancy continuing to jump in leaps and bounds.

It will come as no surprise to most that women born in 2030 will more than likely live to a slightly older age than men, a trend which appears to be the reversal of how things were before the modern age.

Oddly, we're still not entirely sure whyfemales seem to outlive men across the board,though the study notes numbers seem to indicate the differences between the sexes come down to higher rates of accidents and differences in habits that lead to conditions such as cardiovascular disease.

Researcher Majid Ezzati explained, "Men traditionally had unhealthier lifestyles, and so shorter life expectancies. They smoked and drank more, and had more road traffic accidents and homicides. However as lifestyles become more similar between men and women, so does their longevity."

Women born in South Korea in the next 15 years might want to invest in birthday candles, with a 57 percent chance that their life expectancy will be 90.8 years, breaking the nonagenarian line for the first time in history.

Right now, that number for South Korean womenis 85.8, meaning a jump of five years.

French women can also expect a long life of 88.6 years, up from 85.1, followed by Japan at 88.4 years which barely moves from 88.5 years.

South Korean men, on the other hand, can expect a still-respectable 84.1 years in 2030 the highest predicted for males up from today's 79.3.

Good news for Australian blokes born in 2030 they will come in second on the list for men, also expecting to reach 84, just 3.6 years behind Australian women.

This general lift for life expectancy is largely attributed to socioeconomic improvements, better education, improved nutrition among children and adolescents, expanded access to healthcare, as well as factors such as a lower incidence of smoking among women.

While most of the countries studied can expect a significant boost in life expectancy over the next 15 years, the US will see only relatively minor improvements 82.1 to 83.3 for women born in 2030, and 77.5 to 79.5 for men,putting them on a similar level to life expectancies in Mexico and Croatia.

"Not only does the US have high and rising health inequalities, but also life expectancy has stagnated or even declined in some population subgroups," the researchers write.

Predicting a climb in life expectancy means looking to a future where society will need to care for an ageing population, especially in nations with a declining birth rate.

"The fact that we will continue to live longer means we need to think about strengthening the health and social care systems to support an ageing population with multiple health needs," says Ezzati.

Several decades ago, having a future general life expectancy exceeding the age of 85was believed to beunlikely.

The researchers themselves point out in their paper an early upper limit of 90 was proposed by some scientists at the beginning of the 20th century.

Should we even be thinking it terms of upper limits?

The current record for the oldest human is held by Jeanne Calment, a French woman who lived to 122 years and 164 days, but it seems unbelievable to think this could ever become a common statistic.

Ezzati doesn't seem to think so. "We repeatedly hear that improvements in human longevity are about to come to an end," he says. "I don't believe we're anywhere near the upper limit of life expectancy if there even is one."

This research was published in Lancet.

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Depression puts psoriasis patients at significantly greater risk of psoriatic arthritis – Science Daily

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Everyday Health (blog)
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Scientists find a striking number of genetic changes can occur early in human development – Medical Xpress

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February 24, 2017 Dr. Pengfei Liu holding human DNA treated with fluorescent dyes prepared for copy number variant analysis. Credit: Baylor College of Medicine

The genetic material of an organism encodes the instructions that guide its development. These codes are not written in stone; they can change or mutate any time during the life of the organism. Single changes in the code can occur spontaneously, as a mutation, causing developmental problems. Others, as an international team of researchers has discovered, are too numerous to be explained by random mutation processes present in the general population. When such multiple genetic changes occur before or early after conception, they may inform scientists about fundamental knowledge underlying many diseases. The study appears in Cell.

"As a part of the clinical evaluation of young patients with a variety of developmental issues, we performed clinical genomic studies and analyzed the genetic material of more than 60,000 individuals. Most of the samples were analyzed at Baylor Genetics laboratories," said lead author Dr. Pengfei Liu, assistant professor of molecular and human genetics Baylor College of Medicine and assistant laboratory director of Baylor Genetics. "Of these samples, five had extreme numbers of genetic changes that could not be explained by random events alone."

The researchers looked at a type of genetic change called copy number variants, which refers to the number of copies of genes in human DNA. Normally we each have two copies of each gene located on a pair of homologous chromosomes.

"Copy number variants in human DNA can be compared to repeated or missing paragraphs or pages of text in a book," said senior author Dr. James R. Lupski, Cullen Professor of Molecular and Human Genetics at Baylor. "For instance, if one or two pages are duplicated in a book it could be explained by random mistakes. On the other hand, if 10 different pages are duplicated, you have to suspect that it did not happen by chance. We want to understand the basic mechanism underlying these multiple new copy number variant mutations in the human genome."

A rare, early and transitory phenomenon that can affect human development

The researchers call this phenomenon multiple de novo copy number variants. As the name indicates, the copy number variants are many and new (de novo). The latter means that the patients carrying the genetic changes did not inherit them from their parents because neither the mother nor the father carries the changes.

In this rare phenomenon, the copy number variants are predominantly gains duplications and triplications rather than losses of genetic material, and are present in all the cells of the child. The last piece of evidence together with the fact that the parents do not carry the alterations suggest that the extra copies of genes may have occurred either in the sperm or the egg, the parent's germ cells, and before or very early after fertilization.

"This burst of genetic changes happens only during the early stages of embryonic development and then it stops," Liu said. "Interestingly, despite having a large number of mutations, the young patients present with relatively mild neurological problems."

The researchers are analyzing more patient samples looking for additional cases of multiple copy number variants to continue their investigation of what may trigger this rare phenomenon.

"We hope that as more researchers around the world learn about this and confirm it, the number of cases will increase," Liu said. "This will improve our understanding of the underlying mechanism and of why and how pathogenic copy number variants arise not only in developmental disorders but in cancers."

A new era of clinical genomics-supported medicine and research

This discovery was made possible in great measure thanks to the breadth of genetic testing performed and genomic data available at Baylor Genetics laboratory.

"The diagnostics lab Baylor Genetics is one of the pioneers in this new era of clinical genomics-supported medical practice and disease gene discovery research," Lupski said. "They are developing the clinical genomics necessary to foster and support the Precision Medicine Initiative of the National Institutes of Health, and generating the genomics data that further drives human genome research."

Using state-of-the art technologies and highly-trained personnel, Baylor Genetics analyzes hundreds of samples daily for genetic evaluation of patients with conditions suspected to have underlying genetic factors potentially contributing to their disease. Having this wealth of information and insight into the genetic mechanisms of disease offers now the possibility of advancing medicine and basic research in ways that were not available before.

"There is so much that both clinicians and researchers can learn from the data generated in diagnostic labs," Liu said. "Clinicians receive genomic information that can aid in diagnosis and treatment of their patients, and researchers gather data that can help them unveil the mechanisms underlying the biological perturbations resulting in the patients' conditions."

Explore further: Largest study of its kind finds rare genetic variations linked to schizophrenia

More information: An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell, DOI: dx.doi.org/10.1016/j.cell.2017.01.037

Journal reference: Cell

Provided by: Baylor College of Medicine

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Scientists find a striking number of genetic changes can occur early in human development - Medical Xpress

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