StemCell Therapy

What is Genomics?

Genomics is the study of all the genes within an organism, including humans, and how all of those genes are interrelated and influence the organism. Genetics is primarily focused on single genes. Genomics involves sequencing and analysis of genomes through the use of DNA sequencing and bioinformatics.1

How are Genomics Being Used in Toxic Tort Litigation?

The use of genomics to defend toxic tort claims is emerging. For example, defendants in recent cases involving asbestos, benzene, low-dose radiation and other substances have used genomics successfully. These successes tend to occur after an early and careful look at the facts of a case.

For example, defendants recently and successfully used a genomic causation defense in two mesothelioma cases involving males, who developed peritoneal mesothelioma in their 30s, with little or no known exposure to asbestos fibers. The early age of cancer onset was a material fact suggesting a genetically caused cancer. Another fact suggesting that genomics should be considered is the presence of a family history of cancer, especially early onset cancers or multiple cancers in particular family members. Contrary to what one might assume, the family history does not need to involve the same cancer or the same organ. That is because adverse germline mutations (ones that are inherited) can cause cancers located on different organs.

What can Genomics Revealabout Cancers?

As explained by members of ToxicoGenomica, a multidisciplinary group of scientists and lawyers that provide services for using genomic and systems biology data in civil litigation, the application of Next Generation Sequencing (NGS) technologies in toxic tort cases can reveal the presence or absence of evidence of toxicant exposure and damage that is locked within the genetic blueprint of an individual, and in appropriate cases, can assess alternative causation.

In other words, the process can reveal objective evidence showing that adverse gene mutations were sufficient to cause a cancer without regard to exposure to a particular substance (such as asbestos fibers).

How is the Genomic Information Obtained?

The initial steps in the gene sequencing process are not complex. The first step is to obtain a source from which laboratory technicians can obtain DNA that meets standard criteria. Typically, DNA is either extracted from small samples of fresh blood (about two teaspoons) or from tumor biopsy tissue samples that include some non-cancerous tissue.

In some situations, old biopsy material may serve as a source of DNA, even if the biopsy sample was taken for reasons not involving cancer.

Reasons Why Using Genomic Evidence is a Good Idea.

1) To break up purported class actions. By exposing the material physical differences between plaintiffs, class claims can be defeated.

2) To force plaintiffs to back down. In toxic tort litigation, some of the most financially successful plaintiffs firms use templates for their cases. This allows them to recycle the same theories and defenses with only a modest investigation of the individualized facts. Firms using such a model are disinclined to invest the time and money needed to understand genomics and the genomics of a particular plaintiff. Instead, they may dismiss claims or settle for a relatively small amount.

According to a lawyer affiliated with ToxicoGenomica, we are seeing an increase in cases settling quickly after disclosure of a high quality expert report that proves up the existence of combinations of adverse germline mutations inherited by a person with cancer and a family history of cancer.

3) To dispute exposure. Some forms of genomic analysis can be used to generate data to show whether a plaintiff has or has not been exposed to a particular toxicant. For example, increasing numbers of studies evaluate the presence or absence of exposures based on patterns involving small or large segments of RNA. Studies of this sort are increasingly used to assess genomic changes related to use of tobacco.2

4) To combat the scope of general causation. Genomic evidence can provide previously unknown, but objective evidence, to dispute general long-held beliefs about general causation. For example, for years, juries were unpersuaded by the argument that mesothelioma could be idiopathic, meaning cause unknown. Todays jurors, raised on TV shows such as CSI, expect and want to see objective scientific data. Recently, researchers used new scientific tools (e.g., CRISPR) to create genetically engineered mice that developed mesotheliomas without asbestos exposure when given mutations that promoted general cancer development, supporting the argument that mesotheliomas can be idiopathic or at least not related to asbestos exposure.3 These new genomic and molecular tools, such as CRISPR, are of paramount importance for litigation. It allows researchers to perform studies and experiments that were previously not possible to determine the impact of various substances on humans and even a given individual. Risk managers, lawyers and others do not need to know the nuances of how to use these tools, but they should know of their existence. To read more on this subject, see my three-part Article Using Genetic Evidence to Defend Against Toxic Tort Claims, co-authored with Dr. Whitney Christian and initially printed in the Intellectual Property & Technology Law Journal (2017). https://www.bclplaw.com/images/content/9/9/v2/99117/IP-Reprint-Article-complete.pdf

5) To demonstrate alternative causation. Genomics can provide objective evidence of the presence or absence of adverse germline mutations known to play a causative role in the hundreds of known familial cancer syndromes. Persons who inherit these adverse germline mutations are genetically predisposed to develop cancers and/or other conditions attributable to inherited mutations.4

6) To demonstrate a plaintiffs susceptibility to or resistance to a particular toxicant.

The presence of a protective mutation (an allele) may make it less likely that the substance in question actually caused the disease. For example, in a benzene case, the plaintiffs expert claimed that the plaintiff likely had a genome that made him more susceptible to a disease when benzene was metabolized. The scientists at ToxicoGenomica assessed his relevant genes and found the opposite, that he had a favorable genome that helped his body resist possible adverse effects. After receiving the data generated by ToxicoGenomica, the plaintiffs expert changed his mind and agreed that: 1) the plaintiff was not susceptible and 2) had a robust genome with respect to metabolism of benzene.

7) To contest specific causation. Genomics increasingly can identify somatic signature mutations patterns or non-inherited mutations in tumors. These patterns of somatic mutations increasingly can be used to provide objective evidence showing that a particular toxicant caused the tumor. Extensive somatic mutation pattern analysis of lung cancers in smokers has produced large amounts of data objectively showing that particular lung cancers arose from tobacco smoking instead of something else. In other instances, the pattern may suggest that the tumor arose because of an inherited mutation in a gene such as KRAS.5

8) To tackle specific causation. In some cases, gene expression profiling can be used to determine with more precision whether a persons disease was or was not caused by a specific toxicant. Exposure to certain substances leaves behind genetic fingerprints. If those fingerprints are missing, then it is reasonable to conclude that the toxicant did not cause the disease.

This technique was used successfully in a case involving naturally occurring radioactive materials. The defendants were able to show that the footprints were missing and that the plaintiffs gene expression instead supported that view that she had developed cancer from inherited mutations. 6

Caution for the Defense Attorney. While genomic evidence can help defendants, it can certainly be used to support a plaintiffs claim and provide evidence of both exposure and causation. As a result, it would be wise for counsel to assess carefully whether genomics is appropriate in a given case.

An example of genomics aiding plaintiffs lies in a federal multi-district litigation involving a diabetes drug known as Actos, which was alleged to cause bladder cancers in some people. The MDL court held an extensive Daubert hearing, which included expert opinions on how genomics could provide a logical explanation for why cancers developed in an unusually short time period (less than 1 year). The court decided to admit the genomic evidence, which made plaintiffs claims much more plausible. After that ruling, and after some other trial losses, defendants subsequently agreed to pay over $2 billion in settlements.

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Why Companies Should Consider Genomic Evidence In Defending Toxic Torts - Lexology

The United States government is a massive employer, and is always looking for qualified candidates to fill a wide variety of open employment positions in locations across the country. Below youll find a Qualification Summary for an active, open job listing from the Department of the Army. The opening is for a Supervisory Clinical Laboratory Scientist in Fort Leonard Wood, Missouri Feel free to browse this and any other job listings and reach out to us with any questions!

Supervisory Clinical Laboratory Scientist Fort Leonard Wood, MissouriU.S. Army Medical Command, Department of the ArmyJob ID: 222868Start Date: 03/03/2020End Date: 03/16/2020

Qualification SummaryWho May Apply: US Citizens In order to qualify, you must meet the education and experience requirements described below. Experience refers to paid and unpaid experience, including volunteer work done through National Service programs (e.g., Peace Corps, AmeriCorps) and other organizations (e.g., professional; philanthropic; religious; spiritual; community; student; social). You will receive credit for all qualifying experience, including volunteer experience. Your resume must clearly describe your relevant experience; if qualifying based on education, your transcripts will be required as part of your application. Additional information about transcripts is in this document. Basic Requirement for Supervisory Clinical Laboratory Scientist: A. A Bachelors or graduate/higher level degree from a regionally accredited college/university including courses in biological science, chemistry and mathematics, AND successful completion of a Medical Laboratory Scientist/Clinical Laboratory Scientist program accredited by the National Accrediting Agency for Clinical Laboratory Sciences (NAACLS) or an accrediting body recognized by the U.S. Department of Education at the time the degree was obtained. OR B. At least a full 4-year course of study that included 12 months in a college or hospital-based medical technology program or medical technology school approved by a recognized accrediting organization. The professional medical technology curriculum may have consisted of a 1-year post- bachelors certificate program or the last 1 or 2 years of a 4-year program of study culminating in a bachelors in medical technology. OR C. A bachelors or graduate/higher level degree from an accredited college/university that included 16 semester hours (24 quarter hours) of biological science (with one semester in microbiology), 16 semester hours (24 quarter hours) of chemistry (with one semester in organic or biochemistry), one semester (one quarter) of mathematics, AND five years of full time acceptable clinical laboratory experience in Blood Banking, Chemistry, Hematology, microbiology, Immunology and Urinalysis/Body Fluids. This combination of education and experience must have provided knowledge of the theories, principles, and practices of medical technology equivalent to that provided by the full 4-year course of study described in A or B above. All science and mathematics courses must have been acceptable for credit toward meeting the requirements for a science major at an accredited college or university. Acceptable experience is responsible professional or technician experience in a hospital laboratory, health agency, industrial medical laboratory, or pharmaceutical house; or teaching, test development, or medical research program experience that provided an understanding of the methods and techniques applied in performing professional clinical laboratory work. Certification/licensure as a medical technologist (generalist) obtained through written examination by a nationally recognized credentialing agency or State licensing body is a good indication that the quality of experience is acceptable. Evaluation of Education and Experience: The four major areas of clinical laboratory science are microbiology, clinical chemistry, hematology, and immunohematology (blood banking). Qualifying course work in these areas includes bacteriology, mycology, mycobacteriology, tissue culture, virology, parasitology, endocrinology, enzymology, toxicology, urinalysis, coagulation, hemostasis, cell morphology, immunology, serology, immunoserology, immuno-deficiency, hemolysis, histocompatibility, cyto-genetics, and similar disciplines or areas of laboratory practice. Related fields include physiology, anatomy, molecular biology, cell biology, embryology, pathology, genetics, pharmacology, histology, cytology, nuclear medicine, epidemiology, biostatistics, infection control, physics, statistics, and similar areas of science where the work is directly related to the position to be filled. Exemption: You are exempt from the basic requirements above if you are a current federal employee occupying a position in the 0644 occupational series and have been continuously employed in this occupational series since September 27, 2017 or before. Note: You will be required to provide appropriate documentation to the respective Human Resources Office to validate your status. In addition to meeting the basic requirement above, to qualify for this position you must also meet the qualification requirements listed below: Experience required: To qualify based on your work experience, your resume must describe one year of specialized experience which includes providing various verification duties in a laboratory. This definition of specialized experience is typical of work performed at the next lower grade/level position in the federal service (GS-09). OR Education: I have at least two and a half years (45 semester hours) of progressively higher level graduate education leading towards a Ph.D. or equivalent doctoral degree from an accredited college or university that is directly related to the work of the position. OR Combination of Education and Experience: A combination of education and experience may be used to qualify for this position as long as the computed percentage of the requirements is at least 100%. To compute the percentage of the requirements, divide your total months of experience by 12. Then divide the total number of completed graduate semester hours (or equivalent) beyond the first year (total graduate semester hours minus 18) by 18. Add the two percentages. Experience or graduate education must have been in (1) the general field of medical technology; (2) one of the disciplines or specialized areas of medical technology; or (3) a field directly related and applicable to medical technology or the position to be filled. AND Certification: Certification from the American Society for Clinical Pathology (ASCP), American Medical Technologist (AMT) or other board or registry deemed comparable by the Office of the Assistant Secretary of Defense for Health Affairs (OASD(HA)) or their designee as a Medical Technologist (MT) or Medical Lab Scientist (MLS) is required.

If youd like to submit a resume or apply for this position, please contact Premier Veterans at abjobs@premierveterans.com. All are free to apply!

Apply

Post a job on LemonWire. Email jobs@lemonwire.com.Want to advertise on listings like this? Email ads@lemonwire.com.

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Supervisory Clinical Laboratory Scientist Job in Fort Leonard Wood, Missouri - Department of the Army - LemonWire

When Emma Hodcroft read that, seemingly out of nowhere, a rash of cases of the novel coronavirus had popped up in Britain in late January, she started collecting media reports on them, searching the articles for clues as to how it had moved to the island nation. Early reports suggested that a lone traveler from Singapore, who was unaware he was infected with virus, had visited a French chalet for a few days and had spread the virus to others at the ski resort. This intrigued Hodcroft, who is half British and a postdoctoral researcher in evolutionary biologist Richard Nehers lab at the University of Basel in Switzerland, where she uses genetics to study and track diseases. She took notes on the cases that were associated with the infected traveler. At first, there wasnt that much information and the story was simple, she tells The Scientist. But more and more cases kept appearing, and she found it hard to keep track of who had traveled to which country and when they were diagnosed.

Hodcroft decided to generate an infographic showing the connections between the traveler from Singapore and the other coronavirus cases emerging in Europe. I thought, Ill make an image and see if anyone else finds this useful, she says. She posted the image on Twitter, and somewhat unexpectedly, it got a lot of attention, she says. People were definitely really, really interested in this. So I kept that image updated over the next week or so. As she updated it, the graphic showed that at least 21 people were exposed to the virus at the ski resort the traveler from Singapore visited; 13 of those people ended up developing COVID-19, the disease caused by the virus. After shed finished the preliminary work, a colleague of Hodcroft saw it and suggested she write it up for publication. She posted the paper on February 26; the next day it appeared in Swiss Medical Weekly.

Hodcroft talked with The Scientist about the work, how its conclusions have been supported by genetic testing of viral strains from patients, and what it tells us about the spread of the virus, SARS-CoV-2, in other countries.

Emma Hodcroft: Firstly, that it seems like so many people [at least 13] could be infected by a single person. It seems like they were infected by the man who traveled from Singapore. So thats quite a lot of forward transmission on his part in a fairly short time period; he was only in France for about four days. Of course, this could be some unusual event that doesnt normally happen, but it lets us put an outer bound on what is possible even if it is not common.

The other thing thats surprising is that, according to the patient statement that he released, the focal patient never had any symptoms. In his own words, he never felt sick. So he did all of this transmission without ever having any indication that he was unwell or that he should be taking any precautions to modify his behavior. It tells us that some infections might be from people who never even know that theyre sick.

Text continues below infographic

Contact tracing showing the spread of SARS-CoV-2 in a particular cluster of patients in Europe.

EH: As far as we can tell, no one from this cluster had severe symptoms. It seems like some people did have some symptoms, but they were never serious. And thats also interesting because it shows that if we didn't know about this outbreak, its pretty likely that these people would have kind of written this off as a bad cold or the flu. None of them would have ended up going to hospital or significantly changing their behavior. And again, this indicates that it might be quite hard, and it is becoming quite hard, to contain this virus because some people don't feel very unwell, such that they would change their behavior or go for testing.

EH: In the US, from the information available, it still doesnt seem like the US has really ramped up testing. We dont know the number of tests that have been performed because its come down off of the CDC website, which is a little concerning. But at least the last reports that were given to us show the US was really lagging behind most countries in the number of tests that it had done.

A few days ago, the research group called the Seattle Flu Study, which is designed to take community samples from random people who have any kind of cough, runny nose, or cold-like symptoms and look for the fluthey pivoted and started testing some of the samples for coronavirus. They found a case in the Seattle area and sequenced the viral genome of the infected person [posted on NextStrain] and showed it links very closely with another case in the Seattle area thats from mid-January. And so this strongly suggests (though we dont yet know for certain) that there has been ongoing undetected transmission in Seattle since mid-January and wasnt picked up because we werent looking for it. This has become clearer in the last few days, as more cases and even deaths have been reported in Washington State. That tells us the virus hasnt just appeared in the last few days in the area.

Text continues below graphic

The viral genome of the first case in Washington (USA/WA1/2020) is identical to Fujian/8/2020. The genome of the virus from a second case in Washington (USA/WA2/2020) is identical to the first Washington case, except it has three additional mutations. This suggests WA1 was a traveler from China bringing the virus to Snohomish County, Washington in mid-January, where the virus circulated undetected for about five weeks, a timespan that explains why WA2 is so similar genetically, with a few mutations. The graphic shows the connection to the other cases with viral sequences now available.

EH: This virus causes respiratory illness, which can make you feel unwell for a few days and then you get better or it can progress. If the illness progresses it can cause lung damage that makes the person more susceptible to other illnesses, such as bacterial infection. This can be treated too and for many people that treatment turns the course of the infection, but some dont and the effort can essentially delay their death. So the infection may have occurred weeks [before a person dies]. This is not something intrinsic to this virus, however. With respiratory illness, its usually something that takes a substantial amount of infection and lung damage before you succumb to it.

EH: Sequencing can tell us a lot about what is happening with the virus right now. The Washington samples are a perfect example. . . . Without having these genomes, we never would have seen this signal of ongoing transmission, which we saw just before the case explosion in Washington. And on the flip side we can tell when cases are coming in from other countries. We have another genome from Washington State thats grouping with genomes that we know have a travel history to Italyso it seems like this could be a case where [an infected person] came back from Italy.

When you have a very small number of cases of a disease, you can do this just through epidemiological contact tracing: you can go to everyone and ask questions and find out the connections between the cases. As the case numbers scale up, this becomes very hard to do. With genetic sequencing, we can do this without having to go and try and figure out where everyone was at the time of infection. Weve had an influx of sequences from Brazil, Switzerland, Mexico, Scotland, Germany. These have clustered with sequences from Italy and have a travel history from Italy and so from that we can show that Italy really is now exporting cases around the world to multiple countries.

EH:Theres been a lot of modeling, not only with genetics but epidemiologically in the last few weeks, and we had pretty strong indications that circulation was wider than publicly thought. At the time, we did try to some extent to get this message out to government health agencies and the public in general. I do think that in the future, incorporating a little bit more of that scientific expertise perhaps into the public dialogue and government decision-making could make a big difference. The earlier that you can act in an epidemic, you have more effect you can have, because one person goes on to infect a few more people who go on to infect a few more people. Its much harder once that has gone up to 10 [infected] people, than if you can stop with person one.

One thing I would note is that studies have shown that limiting transportation really doesnt make much of an impact for outbreaks. Quarantining particular cities, if they seem to be epicenters, can work as a preventive measure, but as the epidemic scales up, you move past being able to contain it in this sense, [and] what you end up doing is just disrupting supply routes, interrupting business, making all of these things much harder.

Editors note: This interview has been edited for brevity.

Ashley Yeager is an associate editor atThe Scientist. Email her at ayeager@the-scientist.com. Follow her on Twitter @AshleyJYeager.

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Coronaviruss Genetics Hint at its Cryptic Spread in Communities - The Scientist

Trevor Bedford, a researcher at Seattles Fred Hutchinson Cancer Research Center, discusses how genome sequencing is being used to track the spread of the COVID-19 coronavirus at the American Association for the Advancement of Sciences annual meeting. (Fred Hutch News Service Photo / Natalie Myers)

An evolutionary analysis based on the genome sequences of COVID-19 coronavirus samples taken from patients in the Seattle area suggests that the number of infections doubles roughly every six days, which translates into hundreds of infections over the course of the past six weeks.

So far, 18 cases have been confirmed in Western Washington, including 14 in King County and four in Snohomish County, north of Seattle. As of today, five patients have died four in King County and one in Snohomish County.

But the analysis laid out in a series of tweets from Trevor Bedford, a researcher at Seattles Fred Hutchinson Cancer Research Center who specializes in the study of viral dynamics, concludes that many more people are likely to be part of a chain of infections leading from the first patient in the U.S. to be diagnosed with the virus. Some probably passed along the virus even though they didnt know they were infected a phenomenon known as cryptic transmission.

Depending on how the computer modeling is tweaked, as many as 1,500 people may have picked up the virus through the transmission chain that began with the patient known as WA1, who traveled from the Chinese city of Wuhan to Snohomish County in mid-January.

There will be more in the whole state, Bedford wrote. He said he suspected that the Seattle areas current coronavirus situation is similar to what the situation was in Wuhan around Jan. 1, when the spread of the infection was beginning to pick up steam. Three weeks later, Wuhan had thousands of infections and was put in large-scale lockdown, Bedford wrote today in a blog post that supplemented his tweets.

Bedfords conclusions are based on a close comparison of viral genome sequences from WA1 and another Snohomish County patient known as WA2, leading to an assessment of where they fit on the broader evolutionary tree for the virus.

The two sequences are similar, but patterns of variation in the genetic code can indicate how much that code has changed in the course of transmission.

The virus from WA1 was sampled on Jan. 19, and the virus from WA2 was sampled on Feb. 28, The viruses genetic codes were sequenced by the research team behind the Seattle Flu Study and shared publicly to the worldwide GISAID database for pathogenic viruses. That allowed Bedford to reconstruct how the coronavirus evolutionary tree spread out over the course of those six weeks.

In todays tweetstorm, Bedford said WA1s case appears to have been the start of a transmission chain leading to WA2. This suggests that the case WA1 infected someone who was missed by surveillance due to mild symptoms, and a transmission chain was initiated at this point in mid-January, he wrote.

The transmission chain that went through WA2 wasnt picked up, probably due to the fact that until last week, the testing effort was focused on sick people who were traveling directly from China or who were in direct contact with a known case.

This lack of testing was a critical error, and allowed an outbreak in Snohomish County and surroundings to grow to a sizable problem before it was even detected, Bedford wrote in todays blog post.

Bedford emphasized that his analysis, conducted in partnership with epidemiologist Mike Famulare of the Institute for Disease Modeling, was still preliminary. Weve reached out to Fred Hutch for more information about the analysis.

The preliminary conclusions emphasize the importance of taking steps to reduce the spread of the virus: washing hands often, making an effort to avoid touching your face, staying home if youre sick, and avoiding close contact with sick people.

Heres todays full series of tweets from Bedford:

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Genetic analysis suggests coronavirus infections double every six days, spreading to hundreds - GeekWire

It is a truth universally acknowledged that cancer prevention and early cancer detection saves lives.

As scientists and physicians at the major cancer centers work together to unravel the link betweengenetic alterations and cancer risk, genetic testing is rapidly becoming an impactful tool for matching patients to individualized cancer screening programs.

Often called the Angelina Jolie effect based on the actor'slaudable effort to enhance understanding of increased cancer risk for patients with alterations in the BRCA1 or BRCA2 genes the general public has become appropriately more aware of the importance that genetics can play in cancer risk.

Put most simply, genetic testing utilizes DNA usually obtained from small amounts of saliva or blood to identify a genetic mutation, or change, in your DNA that may increase your risk of developing certain cancers. This is determined by sequencing the DNA, which reads the specific DNA code for a subset of genes known to be important for affecting cancer development.

Individuals with a strong family history of cancer or those of a certain ancestry, such as Ashkenazi Jewish ancestry, might be more likely to carry these genetic mutations, but lack of a family cancer history does not mean that someone wont be a carrier. In many cases, genetic risk of cancer arises spontaneously through DNA errors that occur in developing embryos. In other words, genetic risk can result from a spot of ill-timed bad luck, on or before your journey began at the single cell stage.

Being aware that you have a genetic mutation that might increase your risk of developing cancer can help you and your doctor work together and create a personalized plan to help increase your chance of prevention or early detection.

For a man carrying specific alterations in the BRCA2 gene, there may be concern for increased risk of prostate or pancreatic cancer development. The team approach is then taken. After meeting with a genetic counselor, a personalized plan for that patient may entail earlier or more frequent prostate cancer screening, and support for helping the patient change behaviors that may further enhance pancreatic cancer risk, like smoking.

At the Sidney Kimmel Cancer Center at Jefferson, the Mens Genetic Risk centralizes these plans, and coordinates with the patients care team to tailor the individual health plan. Further discussions are also had with regard to cascade testing, or testing family members who may also be at risk. As such, genetic testing can impact not just the patient themselves, but family members as well.

Genetic testing might be recommended to someone if they have a strong family history of cancer, which may include several first-degree relatives parents, siblings and children with cancer; many relatives with the same type of cancer; relatives who were diagnosed at a younger-than-normal age; or a relative diagnosed with a rare cancer, such as a male with breast cancer.

Someone who has already been diagnosed with cancer may benefit from genetic testing as well, especially if they were diagnosed at a young age or have a family history of cancer. Cancers with a known hereditary component include breast, ovarian, uterine, prostate, colorectal, melanoma, pancreatic and stomach cancers.

Having a family history of cancer is not limited to a having a family history of thesamecancer. For example, and related to our case above, a man whose mother or sister had breast cancer might be at risk himself for prostate cancer.

It is also important to note that the presence of a gene mutation is also relevant when treating existing cancer. Certain genetic mutations are also associated with a greater risk of having an aggressive cancer and resistance to certain therapies, which can help your doctor manage specific tumor types.

Your results may help your doctor decide on the best treatment regimen, because researchers have found that some treatments are more effective in people with certain gene mutations. In fact, the FDA has recently approved cancer therapies that are only for patients whose tumors have specific gene alterations and it is expected that many more such targeted therapies will be approved and ready for use in treating cancer.

So what if you have been tested and you do not have an identified genetic risk? It is important to note that not having a family history of cancer or genetic risk of cancer does not guarantee that you will never develop cancer. With regard to family history, the National Cancer Institute notes that only 5-10% of cancers are due to inherited gene mutations.

Additionally, having a family history of cancer does not mean that you are certain to be diagnosed with cancer one day yourself. Genetic testing can help inform you of your genetic risk for certain diseases, but it does not inform you of your overall risk. Other factors that contribute to an increased risk for cancer include environmental factors and lifestyle choices, many of which are modifiable.

If you are considering genetic testing or have questions about whether you or your family should undergo testing, talk to your doctor or other health care providers. Talking to a health professional or genetic counselor can help you decide whether you would benefit from testing. They will collect your family and personal health history, explain what kind of information the test can provide you, and help you decide whether the test is right for you.

After undergoing genetic testing, it is important that you talk to your health care provider about what the results mean for you, whether positive or negative. The results can be confusing, and they can help you interpret your results, allay any fears, discuss potential implications for your family, and help you make an informed decision about how to proceed based on the results. Discussion with a specialist is important for future care decisions.

If appropriate, your doctor may discuss cancer risk-reduction strategies with you, like preventive surgery, medications that help reduce risk or lifestyle changes. They also may recommend alternative screening options to help detect the cancer early, such as beginning mammograms before age 40 or having a colonoscopy at 45 rather than 50.

In addition to the clinical genetic testing, a growing number of companies are making tests available to consumers that can provide insight into ones ancestry, as well as certain health information. There are a few things to keep in mind regarding these direct-to-consumer tests if you decide to go ahead with one.

Ancestry DNA tests are typically not clinical grade, meaning that the information is not of the established quality required to change someones health plan. Even if a cancer gene is suspected on these tests, confirmation would be required using a clinical-grade test that has been deemed valid and reliable for detecting cancer gene alterations.

In addition, many at-home tests are very small in scale, and leave out testing of many genes known to be influential in determining cancer risk. For example, an at-home test might screen for mutations in the BRCA1 and BRCA1 genes, but not for the genes associated with Lynch syndrome, an inherited disorder that increases the risk of several cancer types, including colorectal cancer.

There is a growing concern that negative results from an at-home test can provide consumers with a false sense of security. These tests should not be used as a substitute for the genetic counseling and testing you would receive from your health care provider, who will usually re-order a clinical test to confirm the results, and help you understand the results of the test.

Despite the importance of understanding personal genetic risk of cancer, there are justifiable concerns about privacy. This is an important concept for every person to consider. The Health Insurance Portability and Accountability Act protects your genetic data if you were tested through your health care provider. However, there are fewer protections with the direct-to-consumer DNA testing companies, so be sure to understand the companys privacy policy when signing up for services. Some companies may share your results with third parties, such as medical or pharmaceutical researchers.

A common concern for people considering genetic testing is discrimination based on their genetics. The Genetic Information Nondiscrimination Act is a federal law that protects individuals from genetic discrimination. GINA prohibits health insurers from discrimination based on the genetic information of enrollees, meaning they may not use genetic information to make decisions regarding eligibility, coverage, underwriting or premium-setting. However, GINA does not cover disability, life and long-term care insurance.

GINA also prevents employers who have at least 15 employees from using genetic information in employment decisions such as hiring, firing, promotions, pay and job assignments. Additionally, some states have enacted laws that offer additional protections against genetic discrimination. For more information on GINA and genetic discrimination, click here

In sum, cancer genetics is a rapidly evolving field, and the era is upon us wherein individual wellness plans will be as guided by genetic information as they are by vital signs. It was not long ago when the only genetic testing option was examining the BRCA1 and BRCA2 genes for inherited mutations associated with breast and ovarian cancers.

Fast-forwarding to 2020, we not only understand more about BRCA mutations, but we have discovered that there are many hundreds of other genes related to cancer development and progression. If you had BRCA testing many years ago or were told previously that you were ineligible for genetic testing, talk to your doctor.

As we learn more about genetic mutations and we continue to expand the recommendations for testing to include more people, your doctor might recommend that you undergo genetic testing now or consider additional genetic testing. Understanding your genetic code just might be a life saver!

Karen E. Knudsen, Ph.D., enterprise director at the Sidney Kimmel Cancer Center Jefferson Health, oversees cancer care and cancer research at all SKCC sites in the Greater Philadelphia region. She writes occasionally on topics related to cancer.

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Genetic testing is helping prevent cancer and changing treatment plans - PhillyVoice.com

With new cases and clusters of the Covid-19 illness in the news every day, along with canceled events, closed workplaces, and shortages of hand sanitizer, it can feel like were already losing the fight against this outbreak. But in some ways, scientists are better equipped than ever before to follow and understand the new virus.

Were really at a very exciting time right now, says Emma Hodcroft, a molecular epidemiologist at the University of Basel in Switzerland. Unlike traditional epidemiologists, who monitor when and where sick patients show up, molecular epidemiologists can track disease by monitoring the genes in the virus itself.

Hodcroft is part of the team behind Nextstrain, an open, online platform that detects how diseases are evolving in real time. The team has worked on viruses including influenza, Zika, and Ebola. In recent months, theyve pivoted to studying the new coronavirus that causes Covid-19.

These scientists rely on the fact that viruses, like any living thing, pick up random mutations in their genes sometimes as simple as a change in one letter of the genetic code as they proliferate over generations. The new coronavirus carries its genetic code in RNA rather than DNA as humans and most other organisms do. RNA viruses mutate at an especially high rate, which makes them nimble at evolving and adapting. But that also helps scientific detectives track them.

From a swab of a Covid-19 patients nose, scientists can quickly sequence the entire 30,000-letter genome of the virus infecting that patient, according to Trevor Bedford, a scientist at the Fred Hutchinson Cancer Research Center in Seattle and one of Nexstrains developers. We can use these sequences to reconstruct which infection is connected to which infection, Bedford wrote in a blog post. By building a family tree of viruses, scientists can deduce what the disease has been doing behind the scenes.

For example, the first known Covid-19 patient in this country was a traveler who returned to Washington State from Wuhan, China, in mid-January. Tests for the virus werent widely available then. But at the end of February, scientists with the Seattle Flu Study began looking for the coronavirus in samples from people whod been tested for influenza. They soon found it in a high school student who hadnt been to China.

The genes of the students virus were nearly identical to the genes in the virus of the first Washington patient, with a few new mutations. That suggested the students infection was a direct descendant like a viral grandchild of that first patients. The most likely explanation, Bedford writes, is that the coronavirus had been quietly circulating in the Seattle area for the intervening five weeks and infecting hundreds of people.

Understanding how the disease is moving can help public health officials fight it strategically. For example, the genes of viruses in several other countries match samples from Italy, suggesting travelers to Italy are bringing the virus back home. Hodcroft says thats true of most cases in Switzerland so far. It means the disease might be contained in Switzerland by isolating those people and their close contacts. But in Seattle, if the virus has been spreading in secret, it makes sense for the whole population to take preventive steps like avoiding large gatherings.

Recent technological advances have made this kind of rapid detective work possible. High-quality genetic sequencing has gotten faster, cheaper, and more readily available in recent years. Computing power has increased, too.

The other critical development, Hodcroft says, is not a technological advance but a cultural one. Instead of saving their data for future peer-reviewed publications, scientists are now freely sharing information with each other. Researchers worldwide are posting coronavirus genome sequences to GISAID, an open-access platform created for influenza. On a forum called Virological, scientists are sharing and discussing their own analyses of coronavirus genetic data. Researchers at Johns Hopkins University are pooling up-to-the-minute case numbers at a freely available online dashboard.

Hodcroft says this level of data sharing is like nothing thats happened before. We have never had, in any kind of outbreak, so much information at such a relatively early stage. And that puts us humans in a unique position against our latest viral foe, she says. We really have an unprecedented ability to harness all of this and use it in ways that we couldnt have imagined a few years ago.

Elizabeth Preston is a science writer in the Boston area.

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Some good coronavirus news: genetic detectives are on the case - The Boston Globe

In the unprecedented outbreak of a new coronavirus sweeping the world, the germs genetic material may ultimately tell the story not just of where it came from, but of how it spread and how efforts to contain it failed.

By tracking mutations to the virus as it spreads, scientists are creating a family tree in nearly real time, which they say can help pinpoint how the infection is hopping between countries.

When scientists in Brazil confirmed that countrys first case of coronavirus late in February, they were quick to sequence the germs genetic code and compare it with over 150 sequences already posted online, many from China.

The patient, a 61-year-old from So Paulo, had traveled in Italys northern Lombardy region that month, so Italy was likely where he acquired the infection. But the sequence of his virus suggested a more complex story, linking his illness back to a sick passenger from China and an outbreak in Germany.

As a virus spreads, it mutates, developing random changes in single genetic letters in its genome. By tracking those changes, scientists can trace its evolution and learn which cases are most closely related. The latest maps already show dozens of branching events.

The data is being tracked on a website called Nextstrain, an open-source effort to harness the scientific and public health potential of pathogen genome data. Because scientists are posting data so quickly, this is the first outbreak in which a germs evolution and spread have been tracked in so much detail, and almost in real time.

nextstrain.org

The work of the genome sleuths is helping show where containment measures have failed. It also makes clear that countries have faced multiple introductions of the virus, not just one. Eventually, genetic data could pinpoint the original source of the outbreak.

In Brazil, researchers were able to use gene data to show that its first case, and a second one found later, were not very closely related, says Nuno Faria at the University of Oxford. Samples of the virus from the two patients had enough differences to indicate that they must have been acquired in different locations.

When combined with the patient travel information, this indicates that the two confirmed cases in Brazil are the result of separate introductions to the country, Faria wrote in a discussion of his findings.

Faria Lab

Since there is no vaccine, experts say the best chance of stopping the virus is through aggressive public health measures, like finding and isolating people whove been exposed.

And thats where the viruss evolutionary tree is useful, helping to trace the spread of the germ and detect where containment is and isnt working.

The genetic data shows that the virus entered Europe multiple times. It also now suggests that an outbreak in Munich in January, which researchers believed was caught early, might not have been successfully contained.

Since February 1, about a fourth of new infectionsin Mexico, Finland, Scotland, and Italy as well as the first case in Brazilappeared genetically similar to the Munich cluster, says Trevor Bedford, a researcher at the Fred Hutchinson Cancer Research Center and one of the creators of Nextstrain.

Patient 1 of the Munich branch was a 33-year-old German businessman from Bavaria who became sick with a sore throat and chills on January 24. Investigators say before feeling ill he'd met with a Chinese business partner visiting from Shanghai, who herself later tested positive for the virus.

Within four days, more employees of the company, Webasto, tested positive. Although the company closed its headquarters, it wasnt enough. According to the genetic data, the Munich event could be linked to a decent part of the overall European outbreak, which includes more than 3,000 cases in Italy.

An extremely important take home message here is that just because a cluster has been identified and contained doesnt actually mean this case did not seed a transmission chain that went undetected until it grew to be [a] sizable outbreak, Bedford posted to Twitter.

Thats exactly what viral detectives think may have happened in Washington State in the US, where a first case was discovered nearly six weeks ago. In February, though, when they sequenced the virus from a new case, they found it shared a specific mutation with the first one.

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That meant the two were related and the virus had been silently spreading inside the US all along. Since then, Washington has reported 27 cases and nine deaths, including people who died earlier without being properly diagnosed.

In the wake of the Washington outbreak, critics have blamed the US Centers for Disease Control and Prevention for limiting who could get tested, effectively blinding experts to the course of the outbreak.

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Gene sleuths are tracking the coronavirus outbreak as it happens - MIT Technology Review

It was January of 1980 when 21-year-old Helene Pruszynski was kidnapped, raped and murdered in Douglas County, Colorado. Her body was found in a field, but police never identified a suspect. Pruszynskis murder became a cold case.

We consider a case that does not have any viable leads after one to two years a cold case, cold case detective Shannon Jensen said.

However, Jensen says the case was never forgotten. Detectives continued to re-open it for 40 years. Then, with the help of new DNA technology, the suspect was identified in December of last year as James Curtis Clanton. He will be sentenced on April 10, based on the first-degree murder laws in 1980.

Pruszynskis sister the only immediate family still living finally received the closure she had waited decades for.

She had told us that she thought that this may never be solved, and she had somewhat given up on her hope. And she couldnt believe that after all these years we were able to identify and arrest a suspect in her sisters murder, Detective Jensen said.

One key element to solving the case was DNA from people related to Clanton.

Detective Jensen actively searched a public database called GEDmatch, which is used as a way for people to learn more about their family history. She came across Rob Diehl, who turned out to be Clanton's fourth cousin. When Detective Jensen reached out, he says he went through a wide range of emotions.

However, Diehl says it didnt take long for him to realize he wanted to help, especially when he discovered how serious the crime was. He says because Clanton was such a distant cousin, they never knew each other.

You just think its been cold for decades and so long that if theres no evidence now, this isnt going to be solved for the family or to bring somebody to justice, Diehl said.

So Diehl gave Detective Jensen access to his family tree and his DNA. Those both are critical elements in a newly utilized DNA technology called genetic genealogy.

Traditional genealogy is using public records to document a persons family tree and their ancestors. Genetic genealogy is when youre using DNA to help with that process, Chief Genetic Genealogist CeCe Moore said.

CeCe Moore is the Chief Genetic Genealogist at Parabon Nanolabs. Parabon assisted with Ms. Pruszynskis case, and the tech company has helped law enforcement across the nation identify more than 100 criminals the past two years.

"For us, significant amounts of DNA could be less than one percent, which is really a breakthrough because previously with law enforcement cases, you needed to have an exact match, or a very close family member, Moore said.

In Pruszynskis case, law enforcement in 1980 collected plenty of DNA evidence, and stored it properly making it possible for detectives today to upload a DNA profile to find her killer. In fact, Detective Jensen says shes currently in the process of solving two more cold cases.

This technology has given detectives like myself another tool to add to our toolbox. Its given new life to cases that we once thought might have been unsolvable, Detective Jensen said.

Not only is this technology finding those responsible for crimes, but its also ruling out the innocent.

If genetic genealogy is used earlier in the process, it can really help avoid hundreds or even thousands of innocent people who are looked at as persons of interest in these cases, Moore said.

Moore says 30 million people have uploaded their DNA to genetic websites the past decade. However, in order for law enforcement to gain access to it, you would need to upload your DNA to a public database like GEDmatch, and opt in for law enforcement to see your profile.

If you have done a DNA kit, or youre thinking about doing a DNA kit on ancestry or 23andMe or My Heritage, download that raw DNA data file and upload it to GEDMatch because everyone can be a crime solver, Detective Jensen said.

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40-year-old cold case solved with new genetic genealogy technology - The Denver Channel

By University of Copenhagen The Faculty of Health and Medical SciencesMarch 7, 2020

These are giant squid sucker rings. Credit: The Trustees of the Natural History Museum, London

The giant squid is an elusive giant, but its secrets are about to be revealed. A new study led by the University of Copenhagen has sequenced the creatures entire genome, offering an opportunity to throw some light on its life in the depths of the sea.

Sailors yarns about the Kraken, a giant sea-monster lurking in the abyss, may have an element of truth.

Our initial genetic analysis generated more questions than it answered. Professor Tom Gilbert

In 1857, the Danish naturalist Japetus Steenstrup linked the tell tales of ships being dragged to the ocean floor to the existence of the giant squid: A ten-armed invertebrate, that is credibly believed to grow up to 13 meters and weigh over 900 kg.

Now, more than 160 years later, an international team of scientists have sequenced and annotated the genome of a giant squid.

These new results may unlock several pending evolutionary questions regarding this mantled species, says the research leader, Associate Professor Rute da Fonseca from the Center for Macroecology, Evolution and Climate (CMEC) at the Globe Institute of the University of Copenhagen.

Throughout the years only relatively few remains of giant squids or, Architeuthis dux have been collected around the world.

Scale of size between human and giant squid. Credit: University of Copenhagen

Using mitochondrial DNA sequences from such samples, researchers at the University of Copenhagen have previously confirmed that all giant squids belong to a single species.

However, our initial genetic analysis generated more questions than it answered, says Professor Tom Gilbert of the GLOBE Institute, who was part of the previous work on the giant creature.

These new results may unlock several pending evolutionary questions regarding this mantled species. Associate Professor Rute da Fonseca

Producing a high-quality genome assembly for the giant squid proved as challenging as spotting one of these animals in their natural environment.

This was, however, an important effort as the genome is the ultimate toolkit available to an organism.

The challenges in the lab started with the fact that available samples originate from decomposing animals, usually preserved in formalin or ethanol at museums around the world.

This means that most of them cannot be used to obtain the high-quality DNA necessary for a good genome assembly.

This project reminds us that there are a lot of species out there that require individually optimized laboratory and bioinformatics procedures. Associate Professor Rute da Fonseca

Furthermore, elevated levels of ammonia and polysaccharides in the tissues were likely the behind repeated failures in producing suitable libraries for nearly all available sequencing technologies.

This project reminds us that there are a lot of species out there that require individually optimized laboratory and bioinformatics procedures. An effort that is sometimes underestimated when designing single-pipeline approaches in large genome-sequencing consortia, says Rute da Fonseca, who started leading the project when working as an Assistant Professor at the Department of Biology in the University of Copenhagen.

Despite the many challenges, the research group managed to get hold of a freshly frozen tissue sample of a giant squid collected by a fishing vessel near New Zealand. An incredible stroke of luck, according to the research leader.

Left: Giant squid specimen kept at the Darwin Center Tank Room at the Natural History Museum, London. Right: The same individual being measured prior to fixation. Credit: The Trustees of the Natural History Museum, London

Using this sample, the researchers were able to produce the currently best available cephalopod genome.

This genomic draft provides for a unique possibility to address many emerging questions of cephalopod genome evolution, the researchers behind the study explain.

By allowing the comparison of the giant squid with the genomes of better-known types of cephalopods, scientists now hope to discover more about the mysterious giant creatures without necessarily having to catch or observe them in the depths of up to 1200 meters that they inhabit.

For example, the new genomic data might allow scientists to explore the genetic underpinnings of the giant squids size, growth rate, and age.

Read Revealed: The Mysterious, Legendary Giant Squids Genome for more on this research.

Reference: A draft genome sequence of the elusive giant squid, Architeuthis dux by Rute R da Fonseca, Alvarina Couto, Andre M Machado, Brona Brejova, Carolin B Albertin, Filipe Silva, Paul Gardner, Tobias Baril, Alex Hayward, Alexandre Campos, ngela M Ribeiro, Inigo Barrio-Hernandez, Henk-Jan Hoving, Ricardo Tafur-Jimenez, Chong Chu, Barbara Frazo, Bent Petersen, Fernando Pealoza, Francesco Musacchia, Graham C Alexander, Jr, Hugo Osrio, Inger Winkelmann, Oleg Simakov, Simon Rasmussen, M Ziaur Rahman, Davide Pisani, Jakob Vinther, Erich Jarvis, Guojie Zhang, Jan M Strugnell, L Filipe C Castro, Olivier Fedrigo, Mateus Patricio, Qiye Li, Sara Rocha, Agostinho Antunes, Yufeng Wu, Bin Ma, Remo Sanges, Tomas Vinar, Blagoy Blagoev, Thomas Sicheritz-Ponten, Rasmus Nielsen and M Thomas P Gilbert, 16 January 2020, GigaScience.DOI: 10.1093/gigascience/giz152

Aside from the University of Copenhagen (Denmark), the collaborating scientists come from several universities around the world.

The Villum Fonden, Marie Curie Actions, and the Portuguese Science Foundation (FCT) have supported the research project, among others.

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A Sea Monsters Genome Full Genetic Sequence of the Elusive Giant Squid - SciTechDaily

Seattle Genetics, Inc. (Nasdaq:SGEN) announced today the cancellation of the Companys presentation and webcast at the Cowen 40th Annual Healthcare Conference on Tuesday, previously scheduled to take place on March 3, 2020 at 9:20 a.m. Eastern Time. Management will no longer be attending the conference as a precautionary measure related to travel amidst the evolving coronavirus situation.

About Seattle Genetics

Seattle Genetics, Inc. is a global biotechnology company that discovers, develops and commercializes transformative medicines targeting cancer to make a meaningful difference in peoples lives. ADCETRIS (brentuximab vedotin) and PADCEV (enfortumab vedotin-ejfv) use the companys industry-leading antibody-drug conjugate (ADC) technology. ADCETRIS is approved in certain CD30-expressing lymphomas, and PADCEV is approved in certain metastatic urothelial cancers. In addition, investigational agent tucatinib, a small molecule tyrosine kinase inhibitor, is in late-stage development for HER2-positive metastatic breast cancer and in clinical development for metastatic colorectal cancer. The company is headquartered in Bothell, Washington, and has offices in California, Switzerland and the European Union. For more information on our robust pipeline, visit http://www.seattlegenetics.com and follow @SeattleGenetics on Twitter.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200302005307/en/

Contacts

Investors:Peggy Pinkston(425) 527-4160ppinkston@seagen.com

Media:Monique Greer(425) 527-4641mgreer@seagen.com

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Seattle Genetics Announces Cancellation of Presentation and Webcast at the Cowen 40th Annual Healthcare Conference - Yahoo Finance

Recent socio-economic migration within the United Kingdom has influenced the geographic distribution of human DNA linked to traits such as education levels and health, according to a new study published in Nature Human Behaviour.

We were interested in looking at the geographic distribution of human DNA. I have studied the geographic distribution of genetic ancestry differences before, but not yet the geographic distribution of the genetic predisposition to heritable traits and diseases, said lead author Abdel Abdellaoui of the University of Amsterdam.

UK Biobank provided a dataset that was large enough to have a look at this, so we did for more than 30 traits and diseases, including physical and mental health, personality, and educational attainment.

Drawing on data from 488,377 people of European descent surveyed for the UK Biobank, the researchers examined about 1.2 million genetic variants to calculate the polygenic scores an estimate of someones genetic predisposition for a certain characteristic for 33 measures related to economic, health and cultural outcomes. These included but were not limited to physical and mental health, religion, addiction, personality, BMI, reproduction, height and educational attainment.

The researchers found that 21 traits showed significant regional clustering on a genetic level after controlling for ancestry. The findings suggest that regional differences in educational attainment genes are the result of more recent selective migration within the country.

When looking at regional differences between genes for a wide range of traits, genes that are associated with educational attainment show the largest regional differences in Great Britain. These differences are increasing over time, as higher educated individuals leave the poorer regions of the country. These poorer regions show worse living circumstances than the rest of the country, which contributes to worse health outcomes in these regions, Abdellaoui told PsyPost.

The researchers noted that people tend to migrate to improve their skills or employment prospects. In the late nineteenth and early twentieth century, for example, many people left small farms to work industrial jobs in urban centers.

This study has scientific as well as societal implications. There are several widely used study designs that assume that genes are randomly distributed across geography, which we show is not the case. Also, we should take better care of the poorer regions of the country, since the poor living conditions there are causing these regions to have worse health outcomes and are driving talented people away, which is increasing genetic differences between poor and rich, Abdellaoui said.

Our research shows that people have polygenic scores that are more similar to their neighbours polygenic scores than to those of people who live far away. While some of this clustering could come from ancestral differences, we find some of it seems to have a more recent origin. And, when we look at how our subjects have moved during their lifetime, we can see that this clustering is increasing, added co-author David Hugh-Jones in a news release.

There are a few caveats, however. The genetic effects on educational attainment are difficult to quantify, because the genetic predisposition for lower education coincides with worse living conditions that also have a detrimental effect on educational outcomes. Within family studies may offer a solution for this, which is something we are currently working on, Abdellaoui explained.

The study, Genetic correlates of social stratification in Great Britain, was authored by Abdel Abdellaoui, David Hugh-Jones, Loic Yengo, Kathryn E. Kemper, Michel G. Nivard, Laura Veul, Yan Holtz, Brendan P. Zietsch, Timothy M. Frayling, Naomi R. Wray, Jian Yang, Karin J. H. Verweij, and Peter M. Visscher.

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Migration is increasing regional differences in genetic factors associated with the ability to learn - PsyPost

What would the implications be if decoding your genes cost less than a pair of designer jeans? We might soon find out after a Chinese company claimed it can sequence the human genome for $100.

The speed at which the price of genetic sequencing has fallen has been astonishing, from $50,000 a decade ago to roughly $600 today. For a long time, the industry saw the $1,000 genome as the inflection point at which we would enter the genomic agewhere getting a read out of your DNA would be within reach for huge swathes of the population.

That milestone has come and gone, but progress hasnt stopped. And now Chinese firm BGI says it has created a system that can sequence a full genome for just $100. If the claims hold up, thats a roughly six times improvement over state-of-the-art technology.

The key to the breakthrough is a significant increase in the size of the chip that is used to analyze genetic data, so twice as many genomes can be processed at once. Their machine also uses a robotic arm to dunk the chip into baths of the chemicals used to carry out the sequencing process, which allows them to be reused multiple times.

The company says the system, which will be made available to customers late this year, is aimed at large-scale genomics projects and could make it possible to decode the DNA of 100,000 people a year.

The breakthrough could spur further price falls as well, by breaking the stranglehold that industry leader Illumina has had on the market. Dennis Grishin, co-founder of startup Nebula Genomics, told MIT Tech Review that he believed the reason the price of genetic sequencing had remained stuck around $1,000 in recent years was due to Illuminas near monopoly.

A $100 genome could significantly broaden the scope of what we can do with genetic data. The growing field of population genetics promises to uncover the genetic quirks that set different groups of people apart, which can prove vital for developing new medicines and understanding the susceptibility of different groups to certain conditions.

While some ambitious projects, such as the UKs biobank project aimed at collating genetic data on 500,000 people, are already underway, the cost of sequencing has so far limited the scope of these projects. A dramatically cheaper system could see these kinds of initiatives become far more commonplace, greatly expanding our understanding of genetic diversity among humans.

By bringing the cost of full genome sequencing within reach of everyday people, the approach could also dramatically expand the scope of personalized medicine. While services like 23andMe have seen a huge expansion in consumer genetic testing, these services only decode a small fraction of the genome that isnt particularly useful for medical purposes.

DNA sequencing is already used to tailor cancer treatment by determining how peoples genetics are likely to influence their response to certain treatments, but it is still far from standard practice. At $100 the practice could become far more common and also be expanded to predict responses to a host of other treatments, ushering in a new era of personalized medicine.

Theres also hope that it would enable new tests that could provide early warning of susceptibility to a host of genetic diseases, or even sequence the DNA of patients microbiomes to detect imbalances in their gut flora that might be responsible for certain conditions or impact their responses to certain treatments.

Rade Drmanac, chief scientific officer of Complete Genomics, a division of BGI, told MIT Tech Review that at $100 it could soon be common to sequence the DNA of every child at birth. This could provide unprecedented early-warning for a host of diseases, but would also open up a Pandoras box of ethical concerns.

The movie Gattaca already explored the potential for discrimination when genetic testing becomes trivially easy, particularly when paired with increasingly powerful genetic engineering that is bringing the potential for designer babies ever closer.

Perhaps more importantly though, our understanding of how our genetics impact our lives is still very hazy. While we have identified some genes that strongly influence propensity for certain diseases, most human characteristics are governed by complex interactions between multiple genes whose activity can vary throughout our lives in response to environmental pressures.

Our ability to read our DNA is far ahead of our ability to understand it, which could lead to all sorts of problemsfrom creating a new class of worried well flagged as at risk of certain conditions that never come to be, to unnecessarily medicalizing or stigmatizing patients in ways that alter the trajectories of their lives.

With a $100 genome now within reach, we will have to tackle these issues with urgency to make sure the genomic age is one to look forward to rather than one to fear.

Image Credit: Pete Linforth from Pixabay

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$100 Genome Sequencing Will Yield a Treasure Trove of Genetic Dataand Maybe a Dystopian Nightmare - Singularity Hub

Scientists have linked a missing gut microbe to ulcerative colitis, opening the door to a possible new treatment.

A team of scientists from Stanford University School of Medicine, California, has identified a gut microbe that is missing in some people. This finding may be key to why some individuals develop ulcerative colitis.

The research appears in the journal Cell Host & Microbe.

The scientists hope that by replacing the function of this missing microbe, it may be possible to develop new and more effective treatments for ulcerative colitis.

The National Institute of Diabetes and Digestive and Kidney Diseases note that ulcerative colitis is a type of inflammatory bowel disease.

It causes inflammation and sores in a persons large intestine, which can result in abdominal pain, weight loss, diarrhea containing pus or blood, and other issues.

The symptoms of ulcerative colitis can range from mild to severe, and there is currently no cure. Instead, treatments focus on keeping the disease in remission for as long as possible.

Treatment usually begins with medications, but if these do not work, surgery may be necessary.

According to the Crohns and Colitis Foundation of America, 2345% of people with ulcerative colitis will eventually need to have surgery.

Surgery involves the complete removal of a persons colon and rectum. The surgeon will then create either a stoma, which acts as an external pouch to collect intestinal contents, or an ileoanal reservoir, which is a J-shaped pouch at the end of the small intestine that does the same job.

Until now, scientists have not been sure why ulcerative colitis affects some people and not others. The new research from the team at Stanford suggests that a key reason may be the lack of particular gut microbes.

Some people who have surgery to create the J-shaped pouch for their ulcerative colitis will then find that inflammation and the associated symptoms return.

Interestingly, people who have the genetic condition familial adenomatous polyposis (FAP), which also requires the creation of a J-shaped pouch, never experience any inflammatory symptoms.

The researchers wanted to work out why this was the case. To do so, they compared two groups of participants, one with FAP and the other with ulcerative colitis, looking for any significant differences between them.

They found that a key difference was the presence of a type of bile acid in the intestines, which was in far greater quantities in those with FAP than in those with ulcerative colitis.

These bile acids are a natural part of a healthy gut and help break down fats.

In the intestines, bacteria convert these bile acids to secondary bile acids.

The scientists were able to identify a specific bacterial family called Ruminococcaceae that was underrepresented in those with ulcerative colitis.

Ruminococcaceae bacteria are the main type of microbe that converts primary bile acids into secondary bile acids.

As Dr. Aida Habtezion, an associate professor and senior author of the study, notes: All healthy people have Ruminococcaceae in their intestines. But in the [ulcerative colitis] pouch patients, members of this family were significantly depleted.

Helping to confirm their findings, the investigators found that stool samples from the participants with FAP turned primary bile acids into secondary bile acids, whereas samples from those with ulcerative colitis did not.

The team then gave acid supplements to mice who had ulcerative colitis to replace any missing secondary bile acids. This reduced inflammation as well as the normal symptoms of colitis in mice.

This study helps us to better understand the disease, says Dr. Habtezion.

We hope it also leads to our being able to treat it with a naturally produced metabolite thats already present in high amounts in a healthy gut.

Dr. Aida Habtezion

To get to this point, the team is now conducting a clinical trial to discover whether an acid supplement can help people with ulcerative colitis.

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Gut microbes could be key to treating ulcerative colitis - Medical News Today

Testing for the novel coronavirus in the Seattle area will get a huge boost in the coming weeks as a project funded by Bill Gates and his foundation begins offering home-testing kits that will allow people who fear they may be infected to swab their noses and send the samples back for analysis.

Results, which should be available in one to two days, will be shared with local health officials who will notify those who test positive. Via online forms, infected people can answer questions about their movements and contacts, making it easier for health officials to locate others who may need to be tested or quarantined, as well as to track the virus spread and identify possible hot spots.

Initially, the lab will be able to conduct about 400 tests a day, eventually expanding to thousands of tests a day, said Scott Dowell, leader of coronavirus response at the Bill & Melinda Gates Foundation. The project is ramping up as quickly as possible, but its not clear exactly when it will launch, he added. Among other things, software needs to be upgraded to handle the expected crush of requests, and a detailed questionnaire finalized for people who request tests.

Although theres a lot to be worked out, this has enormous potential to turn the tide of the epidemic, Dowell said.

While Public Health Seattle & King County has confirmed 71 cases and 15 deaths as of Saturday, modeling by Trevor Bedford, a computational biologist at Fred Hutchinson Cancer Research Center, suggests the actual number of infections in the Seattle area is between 500 and 600. Unchecked, that is projected to increase to 30,000 by the end of March underscoring the importance of slowing the spread as quickly as possible, Dowell said.

The new effort aims to leverage the formidable resources and expertise of the Gates Foundation, known for fighting disease and epidemics around the globe, to assist local health agencies struggling to keep up with a fast-moving outbreak. The Seattle area has emerged as an epicenter of the new disease, with far more cases and deaths than any other U.S. city.

One of the most important things from our perspective, having watched and worked on this in other parts of the world, is the identification of people who are positive for the virus, so they can be safely isolated and cared for, and the identification of their contacts, who can then be quarantined, Dowell said.

But testing has been limited until now, leaving many people frustrated and frightened. Last week, a laboratory at UW Medicine got approval to begin processing specimens collected by physicians and other health care providers. The Gates-funded project will reduce the need for sick people to visit a doctors office or clinic, lowering the chance of exposing others.

The initiative grew out of the Seattle Flu Study, a 2-year-old research project based at the University of Washington to track the spread of infectious diseases like influenza. Funded with $20 million from Bill Gates private office, the project recruited thousands of volunteers and sent them self-test kits. The focus has now shifted entirely to the new coronavirus, using similar methods to aid the public-health response.

When the expanded testing system is up and running, people in the Seattle area who think they might be infected with SARS-CoV-2, the scientific name for the new coronavirus, can fill out a questionnaire online. If their symptoms are consistent, they can request a test kit, which will be delivered to their home within two hours. The swabs will be collected and delivered to the UW lab.

The Gates Foundation recently announced its committing $5 million for coronavirus response in the Seattle area, and much of that will go for the expanded testing and analysis. While the initial focus will be on the Seattle area, the plan is to eventually expand statewide, Dowell said.

Outside of King County, one person has died and more than 30 infections have been confirmed as of Saturday.

A major goal of the project is to collect as much information as possible online, which will ease the burden on health officials who are stretched thin and hard-pressed to investigate every new case. Local resources have been focused on Life Care Center, the Kirkland nursing home that accounts for the majority of deaths.

They simply dont have enough epidemiologists to do the shoe-leather epidemiology, the house-to-house case identification, Dowell said.

The Seattle Flu Study already has contributed greatly to the understanding of COVID-19, the respiratory disease caused by the new coronavirus. As the outbreak started in China, the scientific team, co-led by Dr. Helen Chu, an infectious-disease specialist at UW Medicine, quickly developed a genetic test for the virus, similar to one they used for flu.

A physician who knew about the work sent in a sample from a teenage patient suspected of having the disease, and the lab was able to identify what was only the second case in the state at that time.

The flu-project scientists also did the first genetic analyses of new coronavirus cases in Washington, and will continue that work. Bedford, the computational biologist, used those first genomes to analyze changes in the virus over time and concluded that it had probably started circulating in the state earlierthan anyone realized.

The Seattle Flu Study has also already been collecting nasal swabs from volunteers for a research study on the new coronavirus. People can still sign up for that study, but they cannot get their individual results yet.

The Seattle Flu Study is led by the Brotman Baty Institute in collaboration with UW Medicine, Fred Hutch and Seattle Childrens hospital.

The Gates Foundation has also committed $100 million to the global coronavirus response, with an emphasis on vaccine and drug development and improved testing, treatment and control in vulnerable parts of Africa and South Asia.

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Gates-funded program will soon offer home-testing kits for new coronavirus - Seattle Times

U.S. government officials say a million promised tests for diagnosing coronavirus infections will soon be in the mail. But that still leaves many state and local laboratories without the ability to test for the virus, crucial for curbing its spread around the country.

Some states have developed their owntests. Clinical testing companies are now joining the ranks. LabCorpannounced March 5 that physicians or other authorized health careproviders could already order its test. QuestDiagnostics announced the same day that the company will also offercommercial tests as soon as March 9, pending U.S. Food and Drug Administrationreviews. Participation of those two commercial laboratories could greatlyexpand testing capacity in the United States.

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But for now, we still find ourselves asa country with pretty limited capacity to test, says Michael Mina, anepidemiologist at the Harvard T.H. Chan School of Public Health in Boston.

Heres what you need to know aboutcoronavirus testing in the country.

As of March 6, at least 45 states arenow doing testing for SARS-CoV-2, the virus that causes the disease. Wyoming,Oklahoma, Ohio, West Virginia and Maine as well as Guam, Puerto Rico and theVirgin Islands are listed as in progress of having labs certified to dotesting, according to the U.S. Centers for Disease Control and Prevention. Evenstates that have tests may have only a single kit, containing enough materialto test just 700 people, Mina says.

As of March 5, 1,583 people had beentested at CDC. That figure doesnt include tests now going on in many state orcommercial laboratories, which began this week. Contrast that with the UnitedKingdom, where 20,388 people have been tested as of March 6. Only 163 cases ofCOVID-19 have been detected there. Switzerland, which had 181 cases and onedeath as of March 6, has tested more than 3,500 people.

In the United States, more than 250people in at least 23 states had confirmed cases of the coronavirus diseaseknown as COVID-19, and 14 had died, as of March 6. More cases can be expectedas testing ramps up, experts say.

As more cases are found, healthofficials will need to test contacts of people who carry the virus, and otherill people in affected communities may demand tests, all escalating the needfor more tests.

Vice President Mike Pence told reporters March 5, We dont have enough tests today to meet what we anticipate will be the demand going forward, according to CNN. But having companies tests in the mix could help testing ramp up relatively quickly.

To get a more complete picture of howwidespread the virus is in the United States, were going to needmillions and millions and millions of tests, said Anthony Fauci, directorof the National Institute of Allergy and Infectious Diseases in Bethesda, Md.,during a CNN town hall on March 5.

Health professionals will swab apersons nose or throat, collect phlegm coughed up from the lungs, or squirtliquid into the nose, throat or lungs and collect the liquid again for testing.Neither Quest nor LabCorp will collect such specimens, but doctors or otherhealth providers may send samples to the labs for testing.

Then, those samples are analyzed in a laboratory, where technicians must extract and purify the viruss genetic material from the mucus, cell debris and other stuff in the samples.That sample preparation process is usually the biggest bottleneck [in testing], says Brent C. Satterfield, founder and chief scientific officer of Co-Diagnostics, a company based in Salt Lake City and Gujarat, India, that has developed its own coronavirus test. That test can be used clinically in Europe, but has not yet been approved for use in the United States, although other labs can use components of the companys test to build their own diagnostic tests.

All of the coronavirus tests being usedby public health agencies and private labs around the world start with atechnique called polymerase chain reaction, or PCR, which can detect tinyamounts of a viruss genetic material. SARS-CoV-2, the virus that causesCOVID-19, has RNA as its genetic material. That RNA must first be copied intoDNA. Thats a lengthy part of the process, too, says Satterfield, adding 15to 30 minutes to the test.

After that, the PCR can begin. Theprocess makes millions to billions of copies of selected segments of DNA. Inthe case of the coronavirus, the CDCs original test scanned for three of theviruss genes, but now tests for two. The World Health Organizations test,developed by infectious disease researcher Christian Drosten at the Charit UniversittsmedizinBerlin and colleagues, tests for three genes but is a bit different than theCDC tests. The PCR step typically takes 45 minutes to an hour, Satterfieldsays.

Some assays give instant yes or noreadings, but others may also take time to analyze. All together, it may takeabout three hours to complete a test, Satterfield estimates.

PCR tests are not simple enough to do ina doctors office.

In the United States, a doctor is nowallowed to decide if a test is warranted and collect the sample, but then mustship the sample off for other trained professionals to prepare and test.

Testing was initially limited to onlythose people with symptoms and a travel history to an affected area or contactwith a known case. On March 4, the CDCrelaxed some restrictions on who can get tested. People still haveto be sufficiently sick and have failed a flu test in order to qualify forcoronavirus testing, Mina says.

In some states, the positive test results arecalled presumptive positives until the CDC can confirm them. In those cases,the final official result may take days. LabCorp estimates that it will takethree to four days to return results to physicians.

Many doctors offices can do a rapid influenzatest. But those flu tests dont use PCR, Satterfield says. Instead, they detectproteins on the surface of the influenza virus. While the test is quick andcheap, its also not nearly as sensitive as PCR in picking up infections,especially early on before the virus has a chance to replicate, he says. By theCDCs estimates, rapid influenza tests may miss 50 percent to 70 percent ofcases that PCR can detect. The low sensitivity can lead to many false negativetest results.

Flu tests also arent as specific for aparticular virus strain as PCR is. About 5 percent to 10 percent of the time,flu tests may mistake a different virus for the flu, creating a false positiveresult. Specificity is a big deal when youre testing large numbers of peoplewho arent expected to be positive, Satterfield says. If youre going to testin one of the states that doesnt have a coronavirus outbreak right now, with aspecificity of 90 percent, 10 out of every 100 people are going to show uppositive even though the coronavirus isnt there yet.

Accurate diagnosis is a very highimperative for this [coronavirus], Satterfield says.

An additional benefit of a PCR test isthat it may be able to detect viruses earlier in an infection than a flu-style testcan, he says, perhaps not in the first day, but a couple of days into aninfection when the virus is replicating strongly, but the bodys immune systemhasnt yet begun to fight and produce symptoms. In every infectious disease Iknow of, that is the most contagious period for a person; the point in timewhen the virus has multiplied to its maximum capacity and the body has not yetstarted to rein in on it, Satterfield says. Being able to identify people inthat period and isolate them from others could help curb the spread of thedisease.

Delays started with a manufacturing flawin the CDCs original PCR test, which caused components that detect one of the threetargeted viral genes to not work properly, the health agency says.

Those woes sound like user error to Co-DiagnosticsSatterfield. A lot of what they are seeing is probably due to inconsistent usein the field, he says. Tests that work phenomenally well in the lab, whenthey are sent to the field, sometimes just dont work the same, he says.

Co-Diagnostics test also uses PCR buttests for only one gene versus three. Sometimes the more complexity you havein a test, the more things you have that can go wrong, Satterfield says.

Some delays in getting testing off theground came from emergency measures enacted by the FDA, Satterfield says. Normally,big medical testing labs, such as state health labs and companies like LabCorpand Quest Diagnostics, are allowed to develop and validate their own tests. Butwhen the coronavirus was declareda public health emergency on January 31, labs needed emergencyuse authorization before using their tests to diagnose cases. Eventhe CDC had to get permission to use its test. But on February 29, FDAannounced that labs could devise their own tests and use them clinically whilewaiting for the agency to review their applications. FDA does not intend toobject to the use of these tests for clinical testing while the laboratoriesare pursuing an EUA, the agency saidin a statement.

It looks like there were some prettylarge blunders that led to some serious delays, says Mina, the epidemiologistat Harvard. Instead of reducing the amount of testing at the start of anepidemic we should have been expanding it as quickly as possible and callingfor all hands on deck, he says.

Those delays and the initial limitationson who could be tested may have allowed some cases to slip through the cracksand start community outbreaks in Washington and California.

It will vary from place to place. If you have symptoms of COVID-19 fever, dry cough and often fatigue contact your doctor or local or state health department for more information. Do not go to the emergency room for testing, officials say.

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What you need to know about coronavirus testing in the U.S. - Science News

By Express News Service

Assisted reproductive technology (ART) is a rapidly advancing field. Most of the women seeking help regarding infertility issues are aware of the several treatment options available. How can we improve the success in ART?

Several new methods have been introduced to enhance the success rates. Reproductive ability of women decreases as their age advances. This is mainly due to decrease in oocyte quality and quantity. As the quality of oocytes decreases, rate of abnormal chromosomal patterns will increase. Mitochondria plays an important role in egg maturation process. Mitochondrial injection from donor eggs can be injected or those from own precursor cells of the eggs can be injected. This can improve the embryo development.

Egg quality can be improved by adding oral medication to the injectables and also giving double trigger for egg maturation helps at times. For few patients, whose response to medication is not satisfactory (termed poor responders), starting treatment with DHEA (dehydroepiandrosterone) or testosterone gel prior to the in vitro fertilisation (IVF) programme can improve success. Time lapse imaging of embryo enables evaluation of early embryo development, so selection of good embryos can be performed for replacement.

Pre implantation genetic screening to select embryos with high chance of implanting and also to reduce the risk for chromosomal problems. Next comes the lining of the womb. We can look at endometrial wave pattern and implant the embryos. Injecting granulocyte stimulating factor or platelet rich plasma prior to implanting the embryos can help at times. Endometrial Receptivity Analysis (ERA), is a genetic testing method in which we take a small sample of a womans endometrial lining to determine which day would be the best day to transfer the embryos during IVF cycle. It is extremely useful in people who had two or more unsuccessful IVF cycles. The sample taken will be analyzed to assess endometrial receptivity and the optimal day for the transfer.

Ultimately when you are being prepared for IVF programme, quit smoking and alcohol, take prenatal vitamins and get vaccinated against rubella and chicken pox if not already immune. Healthy eating is mandatory. Avoid red meat, refined sugar and processed food. Moderate exercise is acceptable and low impact exercises will really help. Reduce your stress levels and improve your sleep. It is a tedious journey. Yes but, motherhood is every womans right.

Dr Sumana Manohar, MB, FRCOG (LON)Senior Consultant - Obstetrics and Gynaecology Sub-Specialty- Reproductive Medicine, Endoscopy and High Risk Obstetrics Apollo Womens Hospitals Shafee Mohammed Road Thousand Lights, Chennai 6

ERA Endometrial Receptivity Analysis (ERA), is a genetic testing method in which a small sample of a womans endometrial lining is taken to determine which day would be the best to transfer the embryos

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How to succeed through assisted reproduction? - The New Indian Express

Tiny heart cells are among the new batch of science experiments heading for the International Space Station Friday night, but their potential to help patients with heart disease on Earth is exponential.

SpaceX's 20th resupply mission to the station is expected to launch Friday night at 11:50 p.m. ET from Cape Canaveral Air Force Station in Florida. It includes supplies, a variety experiments and materials for ongoing research investigations. The Dragon spacecraft will also bring the European Space Agency's Bartolomeo, a commercial research platform that will be installed outside the station, according to NASA.

And nestled among the payloads are two different experiments involving cariomyocytes, or beating heart cells, grown from pluripotent stem cells. Pluripotent stem cells are ideal because they can turned in multiple cell types. In this case, they could become healthy heart cells for a patient with heart disease.

The results of the experiments could be used to generate a multitude of healthy heart cells for children and adults with various heart diseases. But they could also be used to understand heart health and the aging process in a broader context. The researchers for one of the experiments believe their study could even help astronauts with the known risks they experience during long-term spaceflight, like reduced heart function and irregular heartbeat.

"Scientists already know that humans exposed to space experience changes similar to accelerated aging, so we hope the results can help us better understand and someday counteract the aging process," said Deok-Ho Kim, principal investigator for one of the experiments, and associate professor of biomedical engineering and medicine at Johns Hopkins University.

For the next month, the heart cells will undergo a unique journey to space before splashing back down in the Pacific Ocean. Here's what researchers hope to learn about the effects of zero gravity on human heart cells.

Without gravity, cells grow

Emory University School of Medicine associate professor of pediatrics Chunhui Xu first discovered that stem cells grow faster in space by simulating the lack of gravity on Earth. She studies cardiomyocytes with the hopes of improving the heart's regenerative abilities, as well as improving congenital heart disorder treatment.

Stem cell therapies to repair damaged heart cells require at least one billion cells for each patient, Xu said. But they can take time to grow on Earth. When her experiment using simulated microgravity on Earth showed promising steps toward quickly and safely producing cardiomyocytes, Xu saw space as the ultimate proving ground.

Her experiment was chosen to fly on the space station and now she and her team hope they can confirm their ground-based observation and discover new insights as well.

She and her colleagues at Emory had to learn how to cryopreserve the cells so that they can survive the launch and trip to the space station. It also means that the astronauts can unpack everything and organize their experiment schedule, without having to jump right into the experiment for fear of the cells dying.

Once the cells are thawed, the cell cultures will grow for 21 days in the Multi-use Variable-gravity Platform experiment modules built by Techshot, Inc. Then, in an ambitious goal, the cells will actually be returned live, jettisoned in a payload that will land in the Pacific Ocean. A colleague in California will then prep them and have the live cells shipped back to Emory in Atlanta so the researchers can analyze them.

Meanwhile, during the experiment in space, a control group of cells will be put in a centrifuge in a modified gravity environment on Earth.

"We've worked together for years to bring basic and clinical science together," said Dr. Kevin Maher, director of the cardiac intensive care unit at Children's Healthcare of Atlanta Heart Center and professor of pediatrics at Emory University. Maher is working with Xu on the experiment.

There's a high demand on the cells themselves -- they need to be pure and high quality. Residual stem cells that don't turn into heart cells can cause tumors, according to previous research by Xu. More mature cells stand a better chance of becoming pure heart cells. During her ground-based experiment simulating a lack of gravity, Xu found that the cells were more mature and even expressed survival genes that could ensure cell survival. Overall, these factors would allow the cells to connect with the heart tissue better and cause less issues, Xu said.

The implications of their research could help develop a more efficient and cost-effective way to develop the heart cells on Earth for patients in need. Given that heart disease is the leading cause of death in the US, according to the CDC, the cells have great potential to treat children and adults. And the cells could also be used to test new therapies and speed up the development of safe drugs, Xu said.

'Tissue on a chip'

The National Center for Advancing Translational Sciences is continuing its Tissue Chips in Space initiative by funding an experiment that includes a cellphone-sized chip loaded with beating heart tissue.

It starts with a similar base as the Emory experiment: pluripotent stem cells grown into cardiomyocytes. Instead of cell cultures, these are bioengineered mini tissue chips that mimic human heart function.

This allows the cells to signal and act as they would in the body, hosted on a scaffold-like bio-structure holding the tissues together. This encourages the cells inside to grow, and ultimately, this kind of structure could be used to test drugs.

"We hope that this project will give us meaningful data that we can use to understand the heart's structure and how it functions, so that we can improve the health of both astronauts and those down here on Earth," said Kim.

The Johns Hopkins University researchers and their collaborating colleagues at other universities will get measurements of the tissues beating in real time. And after a month, the tissues will return to Earth. The team wants to analyze them and determine how they were affected by microgravity or if their gene expression changed. Heart tissues on Earth, identical to the ones sent to the station, will serve as a control at the University of Washington.

Some of the tissues sent to space will continue to be cultured on Earth for a week afterward in case any recovery efforts can be observed.

"The entire team is excited to see the results we get from this experiment. If successful, we will embark on the second phase of the study where tissues will be sent up to the ISS once again in two years, but this time, we will be able to test a variety of drugs to see which ones will best ameliorate the potentially harmful effects of microgravity on cardiac function," said Jonathan Tsui, a member of Kim's lab and a postdoctoral fellow at Johns Hopkins University's department of biomedical engineering.

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Beating heart cells catch a ride to the International Space Station - The Albany Herald

The federal government recently announced their intention to invest $6.9 million in stemcellresearch.

Stem cells are the building blocks of the body, and are responsible for growing and repairing tissue; they have the potential to treat myriad illnesses including heart disease--the leading cause of death inNorthAmerica.

Canada has been one of the leading countries when it comes to stem cell research, and Canadian researchers have brought stem cells from the lab into hospitals to savecountlesslives.

This funding will go towards nine translational projects and four clinical trials across the country aimed at providing new therapies and fostering continued growth in Canada's regenerativemedicinesector.

Two of the projects are being conducted by the Maisonneuve-Rosemont Hospital in Quebec; one trial involves testing a promising new protocol to make blood stem cell transplants available to more patients with severe leukemia, the other is a biotechnology partnership that is advancing a stem cell-based approach tovisionloss.

"When we invest in science, we invest in better, healthier lives for everyone," Navdeep Bains, Minister of Innovation, Science, and Industry, said in anewsrelease.

"Our government's support will help Canadian researchers further their ground-breaking work to tackle some of the most serious illnesses we face today. Congratulations to all of the recipients, and thank you for your work to keep Canada on the cutting edge of discovery and innovation,"hecontinued.

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Federal government investing nearly $7 million in stem cell research - inthehammer.com

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Two-year-old Regann Moore lights up as she watches videos on her iPad at home on Thursday, Feb. 20, 2020. Moore has a rare disease known as Krabbe Disease and received a life-saving stem cell donation less than a month after being born.(Photo: Nathan Papes/Springfield News-Leader)

Soon after the News-Leader published a story about 2-year-old Regann Moore,a Springfield child whose life was saved thanks to a newborn screening test, someone tweeted the story toMissouri State Rep. Becky Ruth.

"I bawled my eyes out," Ruth said. "I just cried."

She cried because she knew Regann is alive thanks to the death of Ruth's grandson, Brady.

"I cry and smile when I see these children," Ruth said. "We are always so thankful. For us, we see Brady's death wasn't in vain. His legacy lives on by helping save the lives of other children."

More: Springfield child with rare, deadly disease continues to amaze doctors, family

Regann, who is 2 now, was diagnosed right after she was born withKrabbe Disease, a rare metabolic disorder that must be diagnosed at birth and treated as soon as possible with a stem cell donation.

The newborn screening is important because babies with Krabbe Disease appear healthy at birth. Signs something is wrong usually don't appear until it's too late for treatment to be effective.

That is what happened to Brady in 2009. He wasn't diagnosed with the disease until he was 4.5 months old too late for treatment.

Brady died 10 days before his first birthday.

Brady Cunningham died of Krabbe Disease just before his first birthday.(Photo: Courtesy of the Cunningham family)

That's why Ruth and her family fought to get lawmakers on board with making sure all newborns in Missouri are screened for Krabbe Disease.

TheBrady Alan Cunningham Newborn Screening Act was passed in 2009 and screening began in 2012. Ruthsaid her family was OK with the three-year lag because they realized the lab needed time to become equipped to test for the disease.

Missouri is one of just a few states that do the newborn screening.

Brady's law also includes screening for Pompe, Fabry, Gauche and Niemann-Pick diseases. Since then, SCID, MPS I, MPS II and SMA diseases are screened, as well.

Ruth became a state representative in 2015and said newborn screening is her passion.

Her experience with getting Brady's law passed is what led her to seek office.

"It showed me what just a regular everyday person can do and what a differenceyou can make," Ruth said. "People a lot of times complain about politicians and the legislature, but we also do very good things here."

Ruth said her family knows of another child with Krabbe Disease who was saved thanks to newborn screening and a stem cell transplant.

That child is now 4. Ruth said her family and that child's family have a "strong connection."Ruth said shehopes to someday meet Regann's family.

Brady Cunningham was born in 2008. His family is from Campbell in southeast Missouri.

Bradyappeared healthy at birth and was not tested for Krabbe Disease.

Ruth said he started having health problems after about a month and a half. Brady went through "a myriad of diagnoses," Ruth recalled, including acid reflux and seizures.

"Finally my daughter took him to Children's Hospital in St. Louis," she said. "They promised her he wouldn't leave without a diagnosis."

Missouri State Rep. Becky Ruth was moved to tears after reading about Regann Moore, a Springfield child whose life was saved thanks to newborn screening for Krabbe Disease. Ruth and her family encouraged Missouri lawmakers to make sure all Missouri babies are tested for the deadly disease after her grandson, Brady, died from it.(Photo: Submitted by Becky Ruth)

Three weeks later, Brady was diagnosed with Krabbe Disease, which rapidly destroys the nervous system.

"We were told there was nothing they could do," she said. "It was one of the worst days of all of our lives."

Brady was 4.5 months old when he was diagnosed. In order for a stem cell donation to have any chance of being effective, babies must have the transplant within the first month of their life.

Regann, the Springfield child, was given a stem cell donation thanks to an umbilical cord donation.

Thediseaseaffects about one in every 100,000 people in the United States.

"They are missing an enzyme that helps keep their nervous system intact," said Dr. Shalini Shenoy, Regann's transplant doctor. "Because this is missing, they have degeneration of the brain and nervous system. And if you let it progress, it is fatal very early."

Without the stem cell donation, babies die within the first few months, Shenoy said.

"You can't change someone's genetic makeup," Shenoy said. "But when you put stem cells into their bone marrow from somebody else who is normal, some of these cells migrate into their brain and into their nervous system and supply what they are lacking themselves."

It takes some time for the transplant to begin working for the transplanted cells to "settle down" and begin making the missing enzyme, Shenoy said.

"Because of that, the earlier you transplant a Krabbe patient, the more you will be able to rescue them," she said. "You want to catch them before too much damage is done. Once there's a lot of nerve damage, it's not reversible. If I saw a Krabbe patient two months after they were born or four months after they were born when they already had major problems, it's unlikely I'd be able to rescue them too much."

Since the screening and the stem cell transplant treatment are both relatively recent medical advancements, Shenoy said it's anybody's guess what the future will hold for children who, like Regann, were successfully treated with a stem cell transplant early on.

Ferrell Moore holds his two-year-old daughter Regann Moore at their home on Thursday, Feb. 20, 2020. Regann has a rare disease known as Krabbe Disease and received a life-saving stem cell donation less than a month after being born.(Photo: Nathan Papes/Springfield News-Leader)

Regann can't stand on her own or walk yet. But her family is determined to make that happen. She cannot talk but is learning sign language to communicate.

She has regular visits with speech and occupational therapists.

Regann's dad Ferrell Moore got to take her to the circus recently, something the little girl seemed to enjoy.

"She is the joy of my life," Ferrell Moore said. "When I come home, it couldn't be any better to see her and how happy she is to see me."

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'His legacy lives on': Grandmother who helped create newborn screening law tells history of bill - News-Leader

CAPE CANAVERAL, Fla. SpaceX is preparing for its fifth launch of the year: a resupply mission to the International Space Station (ISS). The mission, which is scheduled to launch Friday (March 6) at 11:50 p.m. EST (0450 GMT on March 7), will bring a bevy of science material to the astronauts living and working in the orbiting laboratory.

This flight, dubbed CRS-20, marks the 20th and final mission for SpaceX under the company's first commercial cargo resupply services contract with NASA. Perched atop a Falcon 9 rocket will sit a cargo Dragon capsule filled with more than 4,300 lbs. (1,950 kilograms) of supplies, including more than 2,100 lbs. (950 kg) of science equipment.

The scientific cargo will support a host of experiments across Expeditions 62 and 63, focusing on a range of topics, from biological sciences (growing human heart cells in space), to water conservation methods, to particle-foam manufacturing and the addition of a new research platform on the ISS.

You can watch SpaceX's Dragon launch livehere on Space.com, courtesy of SpaceX, beginning at about 11:30 p.m. EST (0430 GMT), courtesy of NASA TV. You can alsowatch the launch directly from SpaceX here, beginning at 11:35 p.m. EST (0435 GMT).

Video: What's flying to the space station on SpaceX's CRS-20 mission?Related: SpaceX Dragon cargo ship launching tonight. How to watch live.

In its never-ending quest to create the best athletic shoe, Adidas has turned its sights to the International Space Station. The sportswear company has developed a performance midsole an additional shoe layer between the insole (next to your feet) and the sole (what touches the ground) that will enhance comfort.

To create its midsole, Adidas uses a process called particle foam molding, in which thousands of small pellets are blasted into a mold so they fuse together. To streamline the process and create the best shoe it can, Adidas is going to try this process in microgravity. The experiment, dubbed Adidas BOOST (Boost Orbital Operations on Spheroid Tessellation), will look at how the particles fuse together in space.

By removing gravity from the process, the team can take a closer look at individual pellet motion and location. The results of this investigation could show that the space station is a good platform for testing out new manufacturing methods and could lead to more-efficient means of packing and cushioning materials.

Related: Adidas launching new sneakers inspired by historic NASA spacesuits

Delta Faucet Co., a manufacturer of shower heads and other bathroom hardware, is launching a payload on CRS-20 that will seek to better understand how water droplets form. The company will use that knowledge to build a better shower head that lines up with Delta's ultimate goal: creating the sensation of increased pressure while using less water.

Conserving water is incredibly important, but one of the biggest drawbacks is that eco-friendly, low-flow shower heads do not perform as well as their less environmentally friendly counterparts. Users complain that the water pressure feels so low it's difficult to rinse off properly, which can result in longer showers and, ultimately, more water usage.

To help mitigate this issue, Delta has created a unique shower head, called the H2Okinetic, that controls the size and the speed of the water droplets with the help of an oscillating chip. That chip creates a better shower experience by breaking up the water flow into bigger droplets and shooting them out faster, giving the illusion of more water.

Related: Showering in space: Astronaut home video shows off 'hygiene corner'

"Water is a precious commodity," Garry Marty, principal engineer at Delta Faucet, said during a prelaunch briefing on Thursday (March 5). "We are trying to create a shower head to keep our customers happy while using less water."

He went on to explain that once the water leaves the pipes, it essentially doesn't have any pressure. What you're feeling are the droplets. With this new shower head, Delta Faucet is able to control the size and speed on each drop, revolutionizing the way a shower device delivers a shower.

"Lower-flow showers aren't really great to be under," Marty said. "But the more we understand, the more we can improve."

Marty added that, someday, humanity will be living on the moon or Mars and will need a way to take a shower. The lessons learned from this research go beyond conserving water and user experience, he said; it has implications for the space industry as well. But for now, the bigger concern is to better understand the fundamentals of water droplet formation.

Heart disease is the No. 1 cause of death in the U.S. A team of researchers from Emory University in Atlanta, led by Chunhui Xu, are sending an experiment up to the space station to explore how effectively stem cells can be turned into heart muscle cells.

The data collected could lead to new therapies and even speed up the development of new drugs that can better treat heart disease.

The microgravity environment found on the space station is known to have a profound effect on cell growth. Through this research, the team aims to understand the impact microgravity has on cardiac precursors (cardiac cells created from stem cells) and how effectively they produce cardiac muscle cells, called cardiomyocytes.

Related: Heart cells beat differently in microgravity, may benefit astronauts

Ground-based research shows that when cells are grown under simulated microgravity conditions, the production rate of cardiomyocytes is greater than if they were grown under the effects of gravity. By sending the experiment to the space station, Xu and her team will be able to determine if their results are accurate.

"Our goal is to help make stem cell-based therapy more readily available," Xu said during the briefing. "If successful, the demand for it will be tremendous, because heart disease is the No. 1 killer in America."

In order to have a successful therapy, Xu said that the team will need to produce a large number of high-quality cardiomyocytes. To do that, the researchers need to first understand the mechanisms behind cell transformation.

Bartolomeo is a new research platform that will be installed on the exterior of the space station. Placed outside the European Columbus module, this science balcony will host as many as 12 research experiments at one time.

Built by Airbus, the platform will enable researchers to conduct more experiments on the station's exterior. During a prelaunch briefing, NASA and Airbus explained that Bartolomeos potential uses include Earth observation, robotics, materials science and astrophysics.

"All of your [research] dreams can come true with Bartolomeo," said Andreas Schuette, program manager of Bartolomeo at Airbus.

And parking spots on the washing machine-sized platform are all-inclusive, which means that researchers can pay one price to launch, install, operate and even return to Earth. By working directly with agencies like NASA, ESA, and SpaceX, Airbus is able to offer a cost-effective means of conducting research on the space station.

The company is also working with the United Nations in an effort to entice those who wouldn't otherwise be able to afford to send payloads into space, Schuette told Space.com. The duo have teamed up with the United Nations Office for Outer Space (UNOOSA) to make that happen. (The agency works to make space more accessible.)

If all goes as scheduled, the Dragon will arrive at the International Space Station on Monday (March 9) at approximately 6 a.m. EDT (1000 GMT). From there, NASA astronauts Jessica Meir and Drew Morgan will use the station's Canadarm2 robotic arm to capture and attach the spacecraft, before beginning the unloading process.

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SpaceX Dragon to launch heart cell experiment and more to space station tonight - Space.com