Category Archives: Genetic Medicine

SAN DIEGO, July 08, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that two top cytogeneticists from leading institutions in The Netherlands and France presented their research data as part of a multicentric, international effort to compare data generated with Bionanos Saphyr system against gold standard cytogenetic methods consisting of karyotyping, FISH, and/or chromosomal microarray in patients with a variety of constitutional or inherited genetic disorders and in patients with leukemias. In back-to-back online presentations, each showed 100% concordance between Saphyr and standard cytogenetics along with other discoveries that extend the capabilities of the current standard of care.

Summary of data presentations:

In a webinar originally hosted by LabRoots on Friday, June 22, Dr. Laila El Khattabi from the Cochin Hospital in Paris, France discussed how Saphyr improved structural variant detection for constitutional chromosomal aberrations in her research. The data originate from an international multi-center effort between the hospitals of Paris-Cochin, Lyon and Clermont-Ferrand and the Radboud University Medical Center in the Netherlands, as part of the first international consortium to validate Saphyr for constitutional cytogenetic analysis. The consortium compared the performance of Saphyr against the combination of karyotyping, FISH and array-based methods in 85 samples with a variety of constitutional aberrations including deletions, duplications, balanced and unbalanced translocations, inversions, ring chromosomes and aneuploidies in patients with intellectual disabilities and recurrent miscarriages. Saphyr showed 100% concordance with gold standard methods in these 85 samples. Dr. El Khattabi expressed the consortiums confidence in Saphyrs potential to largely replace standard cytogenetic testing methods in the future. A manuscript describing the study results will be submitted for publication in the coming weeks.

Dr. Alexander Hoischen from Radboud University Medical Center described how Bionano genome imaging identified likely pathogenic variants in 25% of unsolved rare disease cases analyzed with Saphyr. Dr. Hoischen presented two of these research cases, which involved families with undiagnosed genetic disorders. The first case involved a rare and aggressive childhood tumor named Atypical Teratoid Rhabdoid Tumor (ATRT) in which Saphyr detected an insertion in the SMARCB1 gene in a family affected by ATRT, while MLPA and next generation sequencing were unable to identify this variant. In a family affected by intellectual disability, Saphyr identified a single de novo deletion affecting the NSF gene, undetected by chromosomal microarray, whole exome and whole genome sequencing and long read sequencing. This deletion was confirmed to be de novo in the child through PCR validation. Finally, Dr. Hoischen provided an update on his retrospective comparative study on leukemias, which he presented at ESHG 2020 and is expected to be submitted for peer-review publication in the near future. The study showed 100% concordance between Bionanos Saphyr system and standard cytogenetics in 48 leukemia patients. Additionally, Saphyr identified novel events previously undetected by traditional cytogenetic methods, many of them being rare inter-chromosomal translocations causing gene fusions never described before, opening potential new avenues of research in precision medicine and drug development. Dr. Hoischen concluded that Saphyr has value in solving unanswered rare disease cases and has the potential to replace classical cytogenetics methods.

At the ESHG 2020 conference, Dr. Uwe Heinrich, representing MVZ Martinsried, Germany presented that Bionano was able to confirm all known large rearrangements in a cohort of patients with intellectual disability, developmental disorders and chromosomal aberrations. Drs. Hoischen and Heinrich announced that their respective teams are planning to seek accreditation for the Saphyr system, to start offering Bionanos genome imaging as part of a stepwise diagnosis, and to subsequently replace chromosomal microarray with Saphyr altogether later on.

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented: We previously demonstrated the notable performance of Saphyr in leukemia studies across the globe, but the international study presented by Dr. El Khattabi demonstrates that Saphyr performs equally well in genetic diseases such as intellectual disabilities and subfertility. Saphyr showed 100% concordance with traditional cytogenetic methods and made additional discoveries in both leukemia patients and in those with constitutional disorders. We believe that Saphyr is capable of replacing traditional cytogenetic methods and consolidating these outdated methods into a single digital platform that is faster, less expensive and has lower manual labor needs, while providing greater accuracy than these methods.

A recording of the presentation by Drs. El Khattabi and Hoischen can be viewed at https://bionanogenomics.com/library/webinars/

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing. Bionanos Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. For more information, visitwww.bionanogenomics.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: our intentions, beliefs, projections, outlook, analyses or current expectations concerning the Saphyr System; the intended use of Saphyr by the institutions identified in this press release; expectations regarding the rate and extent of adoption of Saphyr in research and clinical settings; and the general effectiveness and utility of Saphyr, including its ability to replace traditional cytogenetic methods and enable discoveries that can contribute to treatment of disease. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

ContactsCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 430-7577arr@lifesciadvisors.com

Media Contact:Kirsten ThomasThe Ruth Group+1 (508) 280-6592kthomas@theruthgroup.com

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First Extensive Validation Study of Saphyr for Constitutional Genetic Disorders by European Consortium Shows 100% Concordance to Standard Cytogenetics...

Researchers in the Jacobs School of Medicine and Biomedical Sciencescontinue to spearhead a number of projects related to the COVID-19 global health pandemic.

Peter L. Elkin, professor and chair of biomedical informatics, says several current studies are focused on data collection that can be used to better understand how to combat COVID-19.

Much of the work is being completed through the Clinical and Translational Science Awards (CTSA) consortium, of which UB is a member. It is one of more than 50 medical research institutions across the nation currently receiving CTSA program funding from the National Institutes of Health.

One such project is the launch of the National COVID Cohort Collaborative (N3C), a joint program between the National Center for Data to Health and the National Center for Advancing Translational Sciences.

Elkin says the projects aim is to build a warehouse of COVID-19 data for the entire CTSA consortium and for otherinterested contributing health care organizations.

This is intended to hold all patient data (inpatient and outpatient) on COVID-tested patients from all of the CTSA hubs, he says. It entails a cloud-based method for data collection on the COVID-19 pandemic.

We are working closely with N3C to see how this can be designed and implemented in astandardized and timely fashion.

The goal of developing a national-level COVID-19 database is to facilitate research and improve recruitment to clinical trials, he says.

N3C is looking to address the many difficult questions raised by the COVID-19 global emergency, such as:

UB is also a member of COMBATCOVID, a New York State initiative to save case report formson all hospital admissions for upper respiratory infections,including all patients tested for COVID-19 or patients who are suspected to have COVID-19.

The statewide consortium will collect and analyze the results from all the CTSA institutions in the state.

It is being run out of New York University, and I am participating from our site as our CTSA informatics core director, Elkin says. I am working on the design and data governance.

The data use agreements are being signed, and the database design and data definitions are being built, he adds. This larger row-level dataset will allow us to ask questions that would notbe possible at any one institution.

In UBs Department of Biomedical Informatics, Elkin and Frank D. LeHouillier, senior programmer and analyst, are involved in the project.

Clinical researchers in the Jacobs School who are involved include:

Researchers in the Department of Biomedical Informatics have also developed a validated microbiome platform that finds infected persons with COVID-19 whether symptomatic or not using deep sequencing of stool microbiome samples.

Elkin is working with postdoctoral associate Sapan Mandloi in using a National Center for Biotechnology Information (NCBI) Sequence Read Archive (SRA) database to collect and process metagenomics data for the organism classified as human gut metagenome.

The more than 300,000 samples are divided into 3,464 projects, according to Mandloi.

We are performing comparison of all samples raw sequences with SARS-Cov-2 genome using a NCBI SRA Taxonomy Analysis Tool (STAT), which utilizes precomputed k-mer dictionary databases and gene-specific profiling, Mandloi says. This allows us to perform geographic mapping of samples identified across the world.

Some 9,720 samples were identified as potential cases of colonization for COVID-19, which were mostly from the U.S., China, Australia and the U.K., he adds.

The ability to identify and track this trafficking of genetic material is vital as a public health topic, he says. As of now, this large pool of genetic data remains largely untapped for clinical surveillance using the combined strategy of gene-based profiling and k-mer-based classification on raw genomic data.

Read more:
Jacobs School researchers collecting COVID-19 data - UB Now: News and views for UB faculty and staff - University at Buffalo Reporter

Researchers say that gene-based, or DNA and RNA, vaccines are faster and cheaper to produce in large quantities than conventional vaccines.

Conventional vaccines often use "weakened" or "killed" versions of a virus. That means laboratories have to produce huge amounts of the virus. They often also include a protein, which is neededto spark a human immune response. But producing a virus and a viral-protein can be time-intensive and expensive.

A DNA or RNA vaccine, on the other hand, takes a small part of the virus' own genetic information just enough to spark an immune response and the protein can be produced directly at the cell. Experts say the virus' genetic informationcan be replicated and produced relatively easily. And that's what scientists want in a live situation, such as the SARS-CoV-2 / COVID-19 pandemic, where billions of people need protection very quickly.

Read more:Lessons learned: The eradication of smallpox 40 years ago

"That's a great advantage of an RNA vaccine," says Peter Doherty, a Nobel Laureate and professor of immunology at Melbourne University, "if it works well."

Human trials: A Covid-19 vaccine test volunteer receives an injection at a clinic in South Africa

The World Health Organization publishes updates on the so-called "candidate" vaccines for SARS-CoV-2 currently in clinical or pre-clinical evaluation. One of the most recent has about 34 RNA and DNA vaccines on the list. But so far none have been approved for use in humans.

Compared to conventional vaccines

There are many different types of vaccines. "Traditional" or conventional vaccines include live attenuated vaccines, inactivated pathogens (also known as "killed vaccines"), viral-vectored vaccines, and other types known as subunit, toxoid and conjugate vaccines. Some prevent both viral and bacterial infection. The latter two are specific to bacterial infections, such as tetanus and diphtheria.

The oral polio vaccine (OPV), for instance, contains an "attenuated" or weakened version of the polio virus. It activates a human immune response, without making the person fully sick.

But a vaccine-virus is also excreted that is, passed from the body and in communities where there is poor sanitation that can lead to two things.

First, it can spread through the community and provide a form of "passive immunization." That's good, but only a short-lived form of immunity. The body has not learnt to recognize the virus and produce its own antibodies. Which means, the body may become vulnerable to that virus again in the future.

And second, if that vaccine-virus lives on long enough in a community without dying out, as it should, it can become a threat in its own right. The World Health Organization (WHO) says: "In very rare instances, the vaccine-virus can genetically change into a form that can paralyze this is what is known as a circulating vaccine-derived poliovirus."

George Church, a professor of genetics at Harvard Medical School and a pioneer in genetic sequencing says DNA vaccines lie somewhere "between live and dead vaccines," with one pertinent benefit: "They can't replicate, mutate, or escape."

Other advantages of DNA vaccines

DNA vaccines are also said to be more stable than conventional vaccines in warm climates "if kept dry and/or sterile at pH8," says Church.

In Nigeria, children line up for a polio vaccine, but some communities refuse it

"They can be stored at room temperature without losing their activity, whereas traditional vaccines require refrigeration," adds Sarah Gilbert, a professor of vaccinology at the Jenner Institute and Nuffield Department of Clinical Medicine at Oxford University.

They may even be effective against non-infectious conditions such as cancer and autoimmune diseases, where conventional vaccines do not work.

Church says DNA vaccines "could be used widely."

And how do DNA vaccines work?

Instead of using a weakened or dead version of a virus, mixed with protein and other ingredients, the main agent in a DNA vaccine is made from part of the virus' own genetic information. The vaccine uses that DNA or RNA to make the immune system think it's under attack, and that triggers the production of proteins directly in the cell.

That activates the immune response, and in turn antibodies that fight the virus.

"Viruses can only multiply in living cells. But to do that the virus has to make more protein. So, DNA becomes RNA, which becomes messenger RNA, and that makes the protein," says Doherty.

The immune response in a little more detail

There are two elements to the immune response, says Doherty.

The first, he says, is that proteins get turned into small things called "peptides." Those peptides are then presented on the surface of the cell, and they stimulate T cells.

There are CD8T cells, also known as "killer T-cells," and CD4 helper T-cells. You need both to get an antibody response.

Read more:The tide is coming for medicinal cannabis

But you also need protein in the extra-cellular fluid.

RNA instructs the cell to make the protein and "for SARS-CoV-2 vaccines, that's the spike protein," says Prof. Sarah Gilbert

The RNA in a vaccine has to cause the protein to get out of the cell and into the extra-cellular fluid so that B cells, or so-called "memory" cells, can grab hold of it, says Doherty. Because without that, your body will have little or no memory of the virus and will be unable to protect you if you ever get infected for real.

Any downsides to DNA vaccines?

The WHO says many aspects of the immune responses caused by DNA vaccines are not yet fully understood. But that has "not impeded significant progress towards the use of this type of vaccine in humans," it says.

In addition, Gilbert says that DNA vaccines usually only encode one protein from the pathogen. "So, they may not be so good if you need to make an immune response against multiple proteins to get protection, but that can be dealt with by mixing multiple vaccines together," she says.

Arcturus Therapeutics is one of at least 30 labs working on a RNA or DNA vaccine for the novel coronavirus COVID-19

Delivery methods vary and may need to be refined over time and with more experience.

Some use a DNA "plasmid," a molecule that's basically as a transportation vehicle for the vaccine. Others use "electroporation" electric pulses that create temporary openings in the cell membrane to let the vaccine get inside.

"Scary" misconceptions about DNA vaccines

Often when we think of DNA or genetics in any form, we think of scary "designer babies," and worry whether our altered DNA will get passed onto future generations.

Read more:Ebola: Congo declares new epidemic

"Anything to do with genetics, or DNA, is somehow conflated in many people's minds. They look at these technologies, whether it's germline-heritable editing or somatic gene-therapy that isn't heritable but might help with diabetes, or changing the genetics of a plant so that it resists pests, or changing the genetics of an animal so that it produces less phosphorus in its feces," says Alta Charo, a professor of law and bioethics at the University of Wisconsin at Madison.

"And all these things get lumped together in the category of genetics, and very closely linked to genetics is scary. Or at least worrisome. And that's why we have to help people distinguish between the various categories," Charo says.

DNA vaccines aren't heritable

If there are ethical concerns in genetics, they might apply to techniques like human-gene editing, where a person's DNA is altered to cut out a gene that might make you prone to a particular cancer. And those alterations can be passed on through generations.

But that's not the case with DNA vaccines.

"They don't alter a person's DNA at all. They provide a temporary addition in a small number of cells," says Gilbert. "DNA vaccines do not enter the genome."

Prof. Peter Doherty says COVID-19 antibody tests tend to only show antibodies in the blood, but not whether the immune system is sufficiently primed for a secondary attack

They merely imitate what happens when we get infected by a virus. A virus inserts its DNA into our cells to enable it to replicate and spread. And a vaccine has to do that as well, but in a controlled manner. As Charo puts it, you retain "the shell of the virus but take away the guts" the really dangerous stuff that makes you sick.

"When we get a viral infection, genetic material (DNA or RNA) from the virus is there inside our cells, but most viral infections don't then leave DNA that becomes part of the genome, although that does happen in some cases," says Gilbert.

Read more:Does it really matter where your DNA comes from?

HIV, for instance, has a "reverse transcriptase," which copies the viral genetic material back into the genome. But viruses like the coronavirus or influenza don't have that, says Doherty.

"So, we're not going to copy the genetic material back into the human genome. But quite frankly, if you made a RNA vaccine and you gave it to people and it transmitted to other people, that would be a good thing," he says."But I don't see why it should happen anyway."

When will we see gene-based vaccines for COVID-19?

Some DNA vaccines have been approved for veterinary use. And there are many others in clinical trials for human use, including those for SARS-CoV-2.

Many will use what's called an "adaptive clinical trial design" to speed up the process from discovery to development to trial and approval to production.

Charo says adaptive trials are a less "static" approach than conventional ones. They allow researchers to respond to data and adapt as they go along, whereas you would normallytake every step in sequence, and over time.

But in a live pandemic, time is at a premium. An adaptive trial design makes it effectively possible to approve a vaccine before all the testing is complete.

"There would be a requirement to do follow-up research to confirm early indications, known as surrogate markers" says Charo, "and if that research fails to confirm those indications, then the drug or vaccine can be withdrawn."

In any case, you're only likely to see the full effects of a vaccine once it's out in the community. As Doherty puts it, "it's all one enormous experiment. People are trying to be safe, but even a partially effective vaccine might be useful. We'll have to see how that's evaluated by the regulatory bodies and the people making the vaccines."

Courage, curiosity or complete hubris? It's probably a mixture of all these things that causes many scientists to test their own inventions on themselves first. According to the Global Times, a Chinese doctor not only developed an oral vaccine against the SARS-CoV-2 but also tried it out himself. So far, he hasn't seen any side effects.

Scientific knowledge and private pleasure can go hand in hand. The British chemist Sir Humphry Davy experimented with nitrous oxide between 1795 and 1798. With the help of his self-experiments, he discovered not only the pain-relieving effect of the gas but also its intoxicating qualities.

The German physicist Johann Wilhelm Ritter not only discovered ultraviolet radiation in 1801, but also invented the first battery the following year. Ritter was also interested in galvanism a term applied to muscle contractions caused by electric shocks. The fact that he died at the age of 33 is said to have been due in part to the galvanic self-experiments with which he maltreated his body.

The Austrian psychologist and doctor Sigmund Freud is known as the founder of psychoanalysis. His methods are still used, discussed and criticized today. Less well known is that Freud researched the effects of cocaine during his time as a doctor at the Vienna General Hospital. Published letters show that Freud himself consumed coke for a long time and in large quantities.

"I believe that I am on the trail of the true pathogen," wrote the American physician Jesse Lazear on September 8, 1900, in a letter to his wife. Lazear researched malaria and yellow fever. He confirmed that the latter is transmitted by mosquitoes. To study the disease, he intentionally allowed himself to be stung, fell ill and died 17 days after writing the letter. Lazear was only 34 years old.

John Paul Stapp became known as the "fastest man on earth" because of his research on the effects of acceleration forces on the human body including his own: He had himself accelerated on a so-called rocket sled up to more than 1,000 kph (621 mph) and decelerated completely in 1.4 seconds. It is the highest acceleration that a human being has ever voluntarily withstood.

Werner Forssmann was already considered a troublemaker during his medical training. The German surgeon was determined to prove that a long, flexible catheter could be inserted safely from the crook of the arm to the heart. Although his superiors had expressly forbidden him to carry out the experiment, in 1929 Forssmann was the first person to try it out on himself. Secretly, of course.

The Canadian physician Ralph Steinman fell ill with pancreatic cancer and underwent an immunotherapy he developed himself. According to his physician, this therapy was unable to prevent Steinman's death, but contrary to the prognosis could possibly have prolonged his life by over four years. Steinman died in 2011, a few days before the Nobel Prize was awarded, which he received posthumously.

Author: Julia Vergin (fs)

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What's the science on DNA and RNA vaccines? - DW (English)

News Release

Thursday, July 9, 2020

Comparing epigenetic differences between humans and domestic dogs provides an emerging model of aging.

One of the most common misconceptions is that one human year equals seven dog years in terms of aging. However, this equivalency is misleading and has been consistently dismissed by veterinarians. A recent study, published in the journalCell Systems, lays out a new framework for comparing dog-to-human aging. In one such comparison, the researchers found the first eight weeks of a dogs life is comparable to the first nine months of human infancy, but the ratio changes over time. The research used epigenetics, a process by which modifications occur in the genome, as a biological marker to study the aging process. By comparing when and what epigenetic changes mark certain developmental periods in humans and dogs, researchers hope to gain specific insight into human aging as well.

Researchers performed a comprehensive analysis and quantitatively compared the progression of aging between two mammals, dogs and humans. Scientists at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and collaborators at the University of California (UC) San Diego, UC Davis and the University of Pittsburgh School of Medicine carried out the research.

All mammals experience the same overarching developmental timeline: birth, infancy, youth, puberty, adulthood and death. But researchers have long sought specific biological events that govern when such life stages take place. One means to study such a progression involves epigenetics gene expression changes caused by factors other than the DNA sequence itself. Recent findings have shown that epigenetic changes are linked to specific stages of aging and that these are shared among species.

Researchers focused on one type of epigenetic change called methylation, a process in which molecules called methyl groups are attached to particular DNA sequences, usually parts of a gene. Attaching to these DNA regions effectively turns the gene into the "off" position. So far, researchers have identified that in humans, methylation patterns change predictably over time. These patterns have allowed the creation of mathematical models that can accurately gauge the age of an individual called "epigenetic clocks."

But these epigenetic clocks have only been successful in predicting human age. They do not seem to be valid across species, such as in mice, dogs, and wolves. To see why the epigenetic clocks in these other species differed from the human version, researchers first studied the epigenetic changes over the lifetime of a domestic dog and compared the resultsobtained with humans.

Dogs are a useful model for such comparisons because much of their environment, diet, chemical exposure, and physiological and developmental patterns are similar to humans.

"Dogs experience the same biological hallmarks of aging as humans, but do so in a compressed period, around 10 to 15 years on average, versus over 70 years in humans. This makes dogs invaluable for studying the genetics of aging across mammals, including humans," said Elaine Ostrander, Ph.D., NIH Distinguished Investigator and co-author of the paper.

Dr. Ostrander and her colleagues in Trey Ideker's laboratory at UC San Diego took blood samples from 104 dogs, mostly Labrador retrievers, ranging from four weeks to 16 years of age. They also obtained previously published methylation patterns from 320 people, whose ages ranged from 1 to 103 years. The researchers then studied and compared the methylation patterns from both species.

Based on the data, researchers identified similar age-related methylation patterns, specifically when pairing young dogs with young humans or older dogs with older humans. They did not observe this relationship when comparing young dogs to older humans and vice versa.

The study also found that groups of specific genes involved in development can explain much of the similarity, which had similar methylation patterns during aging in dogs and humans.

"These results suggest that aging can, in part, be explained by a continuum of changes beginning in development," said Dr. Ideker. "The programs of development are expressed incredibly strongly at defined periods when the pup is in the womb and childhood. But equally strongly are systems that clamp down to stop it. In a sense, we are looking at aging as the residual 'afterburn' of those powerful forces."

The researchers also attempted to correlate the human epigenetic clock with dogs, using this as a proxy for converting dog years to human years.

The new formula is more complicated than the "multiply by seven" method. When dogs and humans experience similar physiological milestones, such as infancy, adolescence and aging, the new formula provided reasonable estimates of equivalent ages. For example, by using the new formula, eight weeks in dogs roughly translates to nine months in humans, which corresponds to the infant stage in both puppies and babies. The expected lifespan of senior Labrador retrievers, 12 years, correctly translates to 70 years in humans, the worldwide average life expectancy.

The group acknowledges that the dog-to-human years formula is largely based on data from Labrador retrievers alone. Hence, future studies with other dog breeds will be required to test the formula's generalizability. Because dog breeds have different life spans, the formula may be different among breeds.

Dr. Ostrander noted, "It will be particularly interesting to study long-lived breeds, a disproportionate number of which are small in size, versus breeds with a shorter lifespan, which includes many larger breeds. This will help us correlate the well-recognized relationship between skeletal size and lifespan in dogs."

The study also demonstrates that studying methylation patterns may be a useful method to quantitatively translate the age-related physiology experienced by one organism (e.g., humans) to the age at which physiology in a second organism is most similar (e.g., dogs). The group hopes that such translation may provide a useful tool for understanding aging and identifying ways to maximize healthy lifespans.

"This study, which highlights the relevance of canine aging studies, further expands the utility of the dog as a genetic system for studies that inform human health and biology," said Dr. Ostrander.

This press release describes a basic research finding. Basic research increases our understanding of human behavior and biology, which is foundational to advancing new and better ways to prevent, diagnose, and treat disease. Science is an unpredictable and incremental process each research advance builds on past discoveries, often in unexpected ways. Most clinical advances would not be possible without the knowledge of fundamental basic research.

NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI Extramural Research Program supports grants for research, and training and career development at sites nationwide. Additional information about NHGRI can be found at https://www.genome.gov.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

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NIH researchers reframe dog-to-human aging comparisons - National Institutes of Health

Genetic tests, also called DNA tests, are used to identify changes in DNA sequences or chromosomal structures. Genetic testing also includes measuring the consequences of genetic alterations, such as RNA analysis as an output of gene expression, and biochemical analysis to measure specific protein outputs.

The Europe Genetic testing services market is expected to reach US$ 5,840.9 Mn in 2027 from US$ 2,521.6 Mn in 2019. The market is estimated to grow with a CAGR of 11.4% from 2020-2027.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of genetic tests can help identify or rule out suspicious genetic conditions or determine the likelihood of someone developing or inheriting a genetic disorder.

A medical device is any device intended to be used for medical purposes. Medical devices benefit patients by helping health care providers diagnose and treat patients and helping patients overcome sickness or disease, improving their quality of life.

The healthcare industryis undergoing rapid transformations since a few years now. Various technological improvementshave been witnessedin the segments including diagnosis and treatment options for chronic diseases. The increase in incidences of chronic illnesses and the increasing ageing population are the primary factors fuelling the growth of healthcare segment.

The Europe Genetic Testing Servicesmarketis growing along with the healthcare industry, but the market is likely to slow down its growth due to the shortage of skilled professionals, suggests the Business Market Insights report.

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France has well-developed policies and strategies in place for improving the prevention of hereditary cancers. Also, France is planning to develop a national plan for personalized medicine. Genomic Medicine France 2025, which was published in 2016, which appeals for healthcare and manufacturing firms to pilot genomic sequencing platforms. By 2020 the aim is to establish a network of centers able to process around 235,000 samples for whole genome sequencing.

These factorsare expectedto offer broad growth opportunities in the healthcare industry and this is expected to cause the demand forimmunochemistryassays in the market.

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Europe Genetic Testing Services Market is expected to reach US$ 5840.9 Million by 2027 with CAGR of 11.4%. - Owned

Theres encouraging and not so encouraging news about COVID-19 testing.

The most common tests used to diagnose an infection with the novel coronavirus are almost 100 percent effective if administered correctly.

However, the same cant be said of tests to determine if youve already had the disease and have developed antibodies.

Experts say diagnostic testing is one of the most powerful public health tools for fighting the spread of the coronavirus.

The tests identify people who may need treatment. Results also trace those who have been in contact with other individuals to help prevent the transmission of the disease further. This can assist epidemiologists in determining how widely the virus has spread.

Testing makes the enemy visible, said Dr. Emily Volk, an assistant professor of pathology at the University of Texas-Health in San Antonio and president-elect of the College of American Pathologists (CAP).

There are two basic types of tests for the novel coronavirus. One type diagnoses an infection and the other tests for antibodies.

Diagnostic tests detect active infections. This is the test you want if you think youve been exposed to the coronavirus or are exhibiting symptoms of COVID-19.

There are currently two types of diagnostic tests available.

The RT-PCR nasopharyngeal tests are more widely used and more familiar. Most involve sticking a 6-inch swab deep into your nose to collect virus samples to test.

However, some more recently approved RT-PCR tests seek to avoid the discomfort associated with the nasopharyngeal swab tests by allowing samples to be collected via a shallow swab of the nose or by testing saliva for the presence of the virus.

If performed correctly, RT-PCR swab tests would be pretty close to 100 percent accurate, Volk told Healthline.

We should be diagnosing people with PCR tests because they are the most accurate, added Dr. Christina Wojewoda, a pathologist at the University of Vermont and vice chair of CAPs microbiology committee.

To get the most accurate results, RT-PCR tests should be conducted 8 days after suspected exposure or infection, to ensure that enough viral material is present to detect.

Some clinicians know that, but people who are swabbing may not be passing that information along, Wojewoda told Healthline.

Its also possible to administer the test too late, after the body has successfully fought off the disease, according to Dr. William Schaffner, professor of medicine in the division of infectious diseases at the Vanderbilt University School of Medicine in Tennessee and medical director of the National Foundation for Infectious Diseases.

The test must also be administered properly, which means inserting the swab 3 inches or so to reach the cavity where the nasal passages meet the pharynx.

If youve had this test and it wasnt uncomfortable, it wasnt done correctly, Schaffner told Healthline.

False-positive results, while rare, can occur with PCR tests, said Wojewoda, because the coronavirus genetic material may linger in the body long after recovery from an infection.

You cant tell if the person [had an infection] 3 days ago or 5 months ago, she said.

Swabs are also used to collect samples for antigen testing. These tests have the advantage of yielding faster results (hours rather than several days).

Theyre also less accurate than RT-PRC tests, mostly because they require test samples to contain large amounts of virus proteins to yield a positive result.

False-negative results from antigen tests may range as high as 20 to 30 percent.

If an antigen test is positive, you can believe it, said Wojewoda. If its negative, you have to question that.

As the name suggests, these tests look for antibodies made by your immune system in response to an infection with the new coronavirus.

Antibody tests are not diagnostic tests.

Antibodies can take several days or weeks to develop after you have an infection and may stay in your blood for several weeks after recovery, according to the Food and Drug Administration (FDA). Because of this, antibody tests should not be used to diagnose an active coronavirus infection.

Antibody tests also arent terribly useful.

Ideally, a positive antibody test would tell you that youve recovered from COVID-19 or a coronavirus infection and have immunity from future infections, allowing you to return to work, travel, and socialization without the risk of transmitting the infection or becoming sick again yourself.

However, researchers dont yet know whether the presence of antibodies means that you have immunity, whether you could still get sick from a different strain of the virus, or how long immunity lasts.

Antibody tests are problematic because they can be misused easily, said Volk. You may think if you have a positive antibody test that you dont have to wear a mask or conform to social distancing, but antibodies dont tell us that you have immunological armor against future infections.

Antibody tests also are subject to false-positive results.

The job of antibodies is to stick to things, so they can create a positive test result if they react to a different type of coronavirus, said Wojewoda.

Antibody tests show the most promise if the way the human body controls the coronavirus is with an antibody response, Wojewoda added. If not, it doesnt make any difference.

For example, she said, its T cells, not antibodies, that help the body fight an HIV infection.

Thats another piece of data that needs to be figured out before testing can be figured out, Wojewoda said.

Every COVID-19 test currently (and legally) available in the United States has been approved by the FDA under the agencys Emergency Use Authorization (EUA) protocol.

The EUA permits the FDA to allow unapproved medical products or unapproved uses of approved medical products to be used in an emergency to diagnose, treat, or prevent serious or life threatening diseases or conditions caused by chemical, biological, radiological and nuclear threat agents when there are no adequate, approved, and available alternatives.

That has allowed novel coronavirus tests to quickly hit the market without the research and testing normally required for FDA approval.

To date, the FDA has approved 130 different RT-PCR, antigen, and antibody tests for the new coronavirus.

Doing a full clinical trial takes a long time, but we need tests now, said Sherry Dunbar, PhD, senior director of global scientific affairs for Luminex Corporation, which manufactures a pair of PRC tests and has submitted an application to the FDA for emergency approval of a new antigen test.

Experts generally agree that the RT-PCR tests are more accurate and useful than antigen and antibody tests, which are better used as confirmatory tools.

Dunbar told Healthline that some testing labs are using multiple tests to anticipate shortages on testing products. Theyre also using the quicker tests when demand is high and the slower but more accurate tests on weekends or during slower times.

Wojewoda said that while some tests promise quicker results than others, the biggest limiting factor to turnaround results is shortages of reagents the chemicals used to do the testing.

Im not looking for a new test, she said. Those on the market are as accurate and fast as they need to be. We have the instruments we need to test. We just need more stuff to do it with.

As with most other things regarding the novel coronavirus, pathologists and testing labs are learning about COVID-19 on the fly, said Dunbar.

Never in my career have I seen anything like this, where the public is discussing and analyzing the data at the same time as the researchers, she said. Were basing our response on past knowledge of other viruses, but as we like to say, the bugs dont read the book. What happened in the past can help us prepare, but things will continue to evolve.

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How Accurate Are the Coronavirus Diagnostic and Antibody Tests? - Healthline