Category Archives: Genetic Medicine

The outcome of ABC v St Georges Healthcare NHS Trust and others will affect genetic testing across the world

GENETIC MEDICINE

This article explores some of the ethical considerations associated with genetic testing, using a case that is working its way through the legal system of England and Wales ABC v St Georges Healthcare NHS Trust and others

Russell Gear

References

British and Irish Legal Information Institute. England and Wales Court of Appeal (Civil Division) Decisions: ABC v St Georges Healthcare NHS Trust & Ors [2017] EWCA Civ 336 (16 May 2017). https://bit.ly/2Rird3o

Lucassen A, Gilbar R. Alerting relatives about heritable risks: the limits of confidentiality. BMJ 2018;361:k1409.

Royal College of Physicians, Royal College of Pathologists and British Society for Genetic Medicine. Consent and confidentiality in genomic medicine: Guidance on the use of genetic and genomic information in the clinic. 3rd edition. London: RCP, RCPath and BSGM; 2019

Originally posted here:
Do individuals have the right to control their family's genetic information? - New Zealand Doctor Online

Before a packed room at the Health Sciences Learning Center on the University of WisconsinMadison campus on Jan. 29, Associate Dean for Public Health and Community Engagement Jonathan Temte asked for a moment of silence for those affected by an outbreak of a virus that in a matter of weeks has sickened nearly 10,000 people around the world and killed more than 200 people in China as of Jan. 31.

The virus, a previously unknown member of a class of coronaviruses, was first described in late December 2019 after several cases of illness appeared in people in Wuhan, a city in Hubei province, China. Its name, for now, is 2019-nCoV.

As details of the virus and its effects continue to emerge, UWMadison gathered a panel of experts, including physicians, epidemiologists, public health officials, scientists and communication experts, to address questions and concerns from the public.

Watch a video of the livestreamed event.

The event came together on short notice after the director of the Centers for Disease Control and Prevention, Robert R. Redfield, had to cancel his previously scheduled talk in Madison in order to help manage the outbreak.

Here are some takeaways:

Coronaviruses are relatively common. What makes this coronavirus unique is that it has never been implicated in human disease before. There are several human coronaviruses that cause mild disease and we have known about them for decades now, said Kristen Bernard, a professor in the UW School of Veterinary Medicine. They are the cause for about 30 percent of common colds. They are also the viruses behind the 2003 SARS and 2012 MERS outbreaks, which both killed large numbers of people.

The original source of the virus is probably bats, which serve as a reservoir for large numbers of zoonotic diseases, or those that pass between animals and people. Most of these viruses rely on an intermediary species to render it infectious in people. With SARS, experts believe that species was civet cats, and with MERS, it was dromedary camels. Some early reports blamed snakes for the 2019-nCoV outbreak, but, said Chris Olsen, emeritus professor in the School of Veterinary Medicine: I think we need to take that with a very large grain of salt.

In people, 2019-nCoV is transmitted through coughing and contact with saliva, mucus or the tears of people sick with the virus. Symptoms of illness include cough, fever and shortness of breath. Public health officials are still working to determine whether infected people can transmit the virus to others if they are not symptomatic.

There have been six confirmed cases of 2019-nCoV in the United States since mid-January, and as of Jan. 30, officials in the U.S. reported the first case of person-to-person transmission. There have been no confirmed cases in Wisconsin, though experts continue to monitor patients for symptoms and have sent six potential cases to the CDC for testing. One came back negative for the virus and results are still pending on the remaining samples. Allen Bateman, assistant director in the communicable disease division of the Wisconsin State Lab of Hygiene, said the laboratory is working with local health departments and clinical labs across the state to help with testing and response.

There are no specific cures or treatments for people with 2019-nCoV, but as is the case with many viruses, said Medical Director of Infection Control at UW Hospital and Clinics Nasia Safdar, those who are sick are offered supportive care to relieve symptoms and mitigate complications. And because the symptoms of the novel coronavirus are similar to other kinds of viruses, she and colleagues are working with health care providers to train them on containment and help keep them safe.

There are no cases of 2019-nCoV in Wisconsin at this time, but we are prepared to react if things are changing, said Patrick Kelly, interim director of medical services at University Health Services. On campus, that has meant taking steps to keep more than 40,000 students safe and provide physical and mental health care as needed. It has also meant communicating often with students and their families. An all-campus message sent Jan. 24 shared information about the novel virus and was translated on short notice in five languages.

The state has also been working on the logistics of monitoring and preparing for the virus, said School of Medicine and Public Health (SMPH) Professor of Medicine Ryan Westergaard, also chief medical officer and state epidemiologist at the Wisconsin Department of Health Services. While some areas have couriers to transport samples from the clinic to the state lab for testing, police are serving that role in others. Its been a good learning experience, he said, with people from legislative offices and the governors office at the table to make sure we are coordinating well.

Its important to be prepared for a possible outbreak of coronavirus, but public health officials still remain more concerned about seasonal influenza. That virus has had a greater impact in Wisconsin, and in the U.S., so far this year. Right now, in Dane County and southern Wisconsin, were in the midst of a huge influenza outbreak, said Temte, also a family medicine physician. As of Friday (Jan. 24), 54 children across the country had died of influenza and influenza is one of these diseases for which we have effective vaccines and effective antivirals.

Scientists at UWMadison are monitoring research developments globally. Chinese scientists worked swiftly in the aftermath of the outbreak to decode the genetic sequence of 2019-nCoV and share it with other researchers worldwide. Thomas Friedrich, a professor in the School of Veterinary Medicine, said some researchers are working with that sequence to develop vaccines against the new coronavirus. Some journals where scientists publish, including the New England Journal of Medicine, require researchers to share their raw data for others to use, and many researchers are making data instantly available on widely-used pre-print servers. I think its very important for us to make our information available to the public as much as possible, he said.

Misinformation is easy to spread, so sticking with facts when discussing 2019-nCoV is imperative, said Emily Kumlien, media strategist at UW Health. We work with the experts to get the right information to share with the community at the right time. That includes using social media and other platforms to reach people in the places where they get their news, and where misinformation is most likely to live. I think its everybodys responsibility, said Ajay Sethi, SMPH professor of population health, to serve as educated, informed opinion leaders; to identify misinformation; and to find creative and strategic ways to dispel that.

Officials believe the novel coronavirus originated in a seafood and live animal market in Wuhan. But shutting down these kinds of markets broadly would be akin to telling Wisconsinites not to hunt deer, said Bernard. Thats part of their culture and we have to be sensitive to that. However, she added: There are things we can do and thats why basic research is so, so important.

Read more here:
Here is what you need to know about novel... - ScienceBlog.com

From NFL Hall of Famer Kurt Warner leading a recognition service for cancer caregivers during the Super Bowl to Tylenols key ingredient possibly being added to Californias proposition 65 list for chemicals that may cause cancer, heres what is making headlines in the cancer space this week.

We understand that they take their own journey, said Warner in a press release. They take on their own pain. They take on their own suffering. They are unselfishly giving of themselves in so many ways solely to have impact on so many that they are caring for.

Participants in the 30 Days of Cancer Prayer event are sent daily cancer prayer videos by phone, email or Facebook by well-known Christians, like Warner. The range of topics discussed and prayed over in the videos include finances, chemotherapy and multiple tumor types.

We live in a society where I feel like so many give simply due to an expectation of what they are going to receive, Warner explained. With caregivers we know that there is very little that they receive. That it is so much giving.

TrialJectory announced a new partnership with specialty cancer diagnostics companyPrecipio, Inc., to provide patients with cancer worldwide with a first-of-its-kind diagnostic and clinical trial-matching service combining the companies platforms.

While this partnership offers enormous benefits for both patients and physicians, it ultimately allows patients to take back control of their health and empowers them to make decisions that are right for them based on accurate information from advanced new technologies, said Tzvia Bader, TrialJectorys CEO and co-founder, in a press release.

TrialJectory is an A-based clinical trial matching platform that helps facilitate clinical trial searches and enrollment for patients with cancer and their physicians. Precipio is a platform that helps to create accurate diagnostic platforms by using all of the data from academic institutions, and providing that information to patients and physicians. The two combines are looking to their merger to help patients throughout the entirety of their cancer journey, from diagnosis to treatment.

Not only are patients entitled to receive an accurate diagnosis at the start of their battle with cancer, but they also deserve access to match and enroll in the best clinical trials available for their unique situation without having to struggle through the complex matching and enrollment process, explained Ilan Danieli, CEO of Precipio.

Five years after a group of patients were given synthetic psilocybin, the psychedelic compound of magic mushrooms, to help with cancer related depression and anxiety new research shows that they are still feeling the positive effects.

In the initial 2016 study, 80% of the patients reported their symptoms faded and the effects lasted up to 6 months a landmark finding at the time. In the follow up study, which included 15 patients, 80% were still experiencing significant improvement in their cancer-related depression and anxiety and nearly all of them attributed it to the psychedelic-assisted therapy.

Its a powerful experience that creates a lasting memory that involves them dealing with the demons of their cancer or their mortality, explained Dr. Stephen Ross, director of addiction psychiatry at New York Universitys Langone Medical Center, who led the 2016 study and co-authored the new research.

Although some patients in the follow up study noted the return of social anxiety, their fear of their cancer and own mortality did not.

Next Generation Sequencing for people with inherited ovarian or breast cancer will now be covered by the Centers for Medicare & Medicaid Services (CMS).

We recognize that cancer patients shoulder a heavy burden, so were leaving no stone unturned in supporting womens health and getting all patients the care, they need, stated CMS Administrator Seema Verma in a press release. Next Generation Sequencing testing provides clinically valuable information to guide patients and physicians in developing a personalized treatment plan.

Patients with inherited ovarian and breast cancer have a limited number of treatments, and for patients on Medicare even more so. Now, patients will have access to the genetic testing that allows patients access to personalized treatments that can better target their cancers.

This spring, California lawmakers will hold a public hearing to determine whether acetaminophen, the key active ingredient in Tylenol, should be added to the states list of chemicals that are known to the state to cause cancer or reproductive toxicity.

This falls under the states Proposition 65, otherwise known as the Safe Drinking Water and Toxic Enforcement Act of 1986. The list includes arsenic, asbestos, cocaine, coke oven emissions, wood dust and over 900 other chemicals. However, acetaminophen marks a major possible addition to the list as its a key ingredient in drugs meant to relieve pain or reduce fever.

In addition to Tylenol, acetaminophen is also found in other over-the-counter medications, such as Alka-Seltzer Plus Liquid Gels, Dayquil, Dimetapp, Excedrin, Midol, Nyquil, Sudafed and Theraflu.Cancer risk associated with acetaminophen have only been associated in animal studies where mutations have been observed and indirect evidence in other studies where further study is ongoing. The Food and Drug Administration has not seen fit to issue a warning.

See original here:
Friday Frontline: Cancer Updates, Research and Education on January 31, 2020 - Curetoday.com

As amphibians go, axolotls are pretty cute. These salamanders sport a Mona Lisa half-smile and red, frilly gills that make them look dressed up for a party. You might not want them at your soiree, though: Theyre also cannibals. While rare now in the wild, axolotls used to hatch en masse, and it was a salamander-eat-salamander world. In such a harsh nursery, they evolved or maybe kept the ability to regrow severed limbs.

Their regenerative powers are just incredible, says Joshua Currie, a biologist at the Lunenfeld-Tanenbaum Research Institute in Toronto whos been studying salamander regeneration since 2011. If an axolotl loses a limb, the appendage will grow back, at just the right size and orientation. Within weeks, the seam between old and new disappears completely.

And its not just legs: Axolotls can regenerate ovary and lung tissue, even parts of the brain and spinal cord.

The salamanders exceptional comeback from injury has been known for more than a century, and scientists have unraveled some of its secrets. It seals the amputation site with a special type of skin called wound epithelium, then builds a bit of tissue called the blastema, from which sprouts the new body part. But until recently, the fine details of the cells and molecules needed to create a leg from scratch have remained elusive.

With the recentsequencingandassemblyof the axolotls giant genome, though, and thedevelopment of techniques to modify the creatures genes in the lab,regeneration researchers are now poised to discover those details. In so doing, theyll likely identify salamander tricks that could be useful in human medicine

Already, studies are illuminating the cells involved, and defining the chemical ingredients needed. Perhaps, several decades from now, people, too, might regrow organs or limbs. In the nearer future, the findings suggest possible treatments for ways to promote wound-healing and treat blindness.

The idea of human regeneration has evolved from an if to a when in recent decades, says David Gardiner, a developmental biologist at the University of California, Irvine. Everybody now is assuming that its just a matter of time, he says. But, of course, theres still much to do.

In a working limb, cells and tissues are like the instruments in an orchestra: Each contributes actions, like musical notes, to create a symphony. Amputation results in cacophony, but salamanders can rap the conductors baton and reset the remaining tissue back to order and all the way back to the symphonys first movement, when they first grew a limb in the embryo.

The basic steps are known: When a limb is removed, be it by hungry sibling or curious experimenter, within minutes the axolotls blood will clot. Within hours, skin cells divide and crawl to cover the wound with a wound epidermis.

Next, cells from nearby tissues migrate to the amputation site, forming a blob of living matter. This blob, the blastema, is where all the magic happens, said Jessica Whited, a regenerative biologist at Harvard University, in a presentation in California last year. It forms a structure much like the developing embryos limb bud, from which limbs grow.

This movie shows immune cells, labeled to glow green, moving within a regenerating axolotl fingertip. Scientists know that immune cells such as macrophages are essential for regeneration: When they are removed, the process is blocked.

Finally, cells in the blastema turn into all the tissues needed for the new limb and settle down in the right pattern, forming a tiny but perfect limb. This limb then grows to full size. When all is done, you cant even tell where the amputation occurred in the first place, Whited tellsKnowable Magazine.

Scientists know many of the molecular instruments, and some of the notes, involved in this regeneration symphony. But its taken a great deal of work.

As Currie started as a new postdoc with Elly Tanaka, a developmental biologist at the Research Institute of Molecular Pathology in Vienna, he recalls wondering, Where do the cells for regeneration come from? Consider cartilage. Does it arise from the same cells as it does in the developing embryo, called chondrocytes, that are left over in the limb stump? Or does it come from some other source?

To learn more, Currie figured out a way to watch individual cells under the microscope right as regeneration took place. First, he used a genetic trick to randomly tag the cells he was studying in a salamander with a rainbow of colors. Then, to keep things simple, he sliced off just a fingertip from his subjects. Next, he searched for cells that stuck out say, an orange cell that ended up surrounded by a sea of other cells colored green, yellow and so on. He tracked those standout cells, along with their color-matched descendants, over the weeks of limb regeneration. His observations, reported in the journalDevelopmental Cellin 2016,illuminated several secrets to the regeneration process.

Regenerative biologist Joshua Currie labeled the cells in axolotls with a rainbow of colors, so that he could follow their migration after he amputated the tip of the salamanders fingertips. In this image, three days after amputation, the skin (uncolored) has already covered the wound. (Credit: Josh Currie)

For one thing, cell travel is key. Cells are really extricating themselves from where they are and crawling to the amputation plane to form this blastema, Currie says. The distance cells will journey depends on the size of the injury. To make a new fingertip, the salamanders drew on cells within about 0.2 millimeters of the injury. But in other experiments where the salamanders had to replace a wrist and hand, cells came from as far as half a millimeter away.

More strikingly, Currie discovered that contributions to the blastema were not what hed initially expected, and varied from tissue to tissue. There were a lot of surprises, he says.

Chondrocytes, so important for making cartilage in embryos, didnt migrate to the blastema (earlier in 2016, Gardiner and colleaguesreported similar findings). And certain cells entering the blastema pericytes, cells that encircle blood vessels were able to make more of themselves, but nothing else.

The real virtuosos in regeneration were cells in skin called fibroblasts and periskeletal cells, which normally surround bone. They seemed to rewind their development so they could form all kinds of tissues in the new fingertip, morphing into new chondrocytes and other cell types, too.

To Curries surprise, these source cells didnt arrive all at once. Those first on the scene became chondrocytes. Latecomers turned into the soft connective tissues that surround the skeleton.

How do the cells do it? Currie, Tanaka and collaborators looked at connective tissues further, examining the genes turned on and off by individual cells in a regenerating limb. In a 2018Sciencepaper, the team reported thatcells reorganized their gene activation profileto one almost identical, Tanaka says, to those in the limb bud of a developing embryo.

Muscle, meanwhile, has its own variation on the regeneration theme. Mature muscle, in both salamanders and people, contains stem cells called satellite cells. These create new cells as muscles grow or require repair. In a 2017 study inPNAS, Tanaka and colleagues showed (by tracking satellite cells that were made to glow red) that most, if not all, ofmuscle in new limbs comes from satellite cells.

If Currie and Tanaka are investigating the instruments of the regeneration symphony, Catherine McCusker is decoding the melody they play, in the form of chemicals that push the process along. A regenerative biologist at the University of Massachusetts Boston, she recently published arecipe of sorts for creating an axolotl limb from a wound site. By replacing two of three key requirements with a chemical cocktail, McCusker and her colleagues could force salamanders to grow a new arm from a small wound on the side of a limb, giving them an extra arm.

Using what they know about regeneration, researchers at the University of Massachusetts tricked upper-arm tissue into growing an extra arm (green) atop the natural one (red). (Credit: Kaylee Wells/McCusker Lab)

The first requirement for limb regeneration is the presence of a wound, and formation of wound epithelium. But a second, scientists knew, was a nerve that can grow into the injured area. Either the nerve itself, or cells that it talks to, manufacture chemicals needed to make connective tissue become immature again and form a blastema. In their 2019 study inDevelopmental Biology, McCusker and colleagues guided byearlier work by a Japanese team used two growth factors, called BMP and FGF, to fulfill that step in salamanders lacking a nerve in the right place.

The third requirement was for fibroblasts from opposite sides of a wound to find and touch each other. In a hand amputation, for example, cells from the left and right sides of the wrist might meet to correctly pattern and orient the new hand. McCusckers chemical replacement for this requirement was retinoic acid, which the body makes from vitamin A. The chemical plays a role in setting up patterning in embryos and has long been known to pattern tissues during regeneration.

In their experiment, McCuskers team removed a small square of skin from the upper arm of 38 salamanders. Two days later, once the skin had healed over, the researchers made a tiny slit in the skin and slipped in a gelatin bead soaked in FGF and BMP. Thanks to that cocktail, in 25 animals the tissue created a blastema no nerve necessary.

About a week later, the group injected the animals with retinoic acid. In concert with other signals coming from the surrounding tissue, it acted as a pattern generator, and seven of the axolotls sprouted new arms out of the wound site.

The recipe is far from perfected: Some salamanders grew one new arm, some grew two, and some grew three, all out of the same wound spot. McCusker suspects that the gelatin bead got in the way of cells that control the limbs pattern. The key actions produced by the initial injury and wound epithelium also remain mysterious.

Its interesting that you can overcome some of these blocks with relatively few growth factors, comments Randal Voss, a biologist at the University of Kentucky in Lexington. We still dont completely know what happens in the very first moments.

If we did know those early steps, humans might be able to create the regeneration symphony. People already possess many of the cellular instruments, capable of playing the notes. We use essentially the same genes, in different ways, says Ken Poss, a regeneration biologist at the Duke University Medical Center in Durham who describednew advances in regeneration, thanks to genetic tools, in the 2017Annual Review of Genetics.

Regeneration may have been an ability we lost, rather than something salamanders gained. Way back in our evolutionary past, the common ancestors of people and salamanders could have been regenerators, since at least one distant relative of modern-day salamanders could do it. Paleontologists have discovered fossils of300-million-year-old amphibians with limb deformities typically created by imperfect regeneration.Other members of the animal kingdom, such as certain worms, fish and starfish, can also regenerate but its not clear if they use the same symphony score, Whited says.

These fossils suggest that amphibians calledMicromelerpetonwere regenerating limbs 300 million years ago. Thats because the fossils show deformities, such as fused bones, that usually occur when regrowth doesnt work quite right. (Credit: Nadia B Frbisch et al./Proceedings of the Royal Society B, 2014)

Somewhere in their genomes, all animals have the ability, says James Monaghan, a regeneration biologist at Northeastern University in Boston. After all, he points out, all animals grow body parts as embryos. And in fact, people arent entirely inept at regeneration. We can regrow fingertips, muscle, liver tissue and, to a certain extent, skin.

But for larger structures like limbs, our regeneration music falls apart. Human bodies take days to form skin over an injury, and without the crucial wound epithelium, our hopes for regeneration are dashed before it even starts. Instead, we scab and scar.

Its pretty far off in the future that we would be able to grow an entire limb, says McCusker. I hope Im wrong, but thats my feeling.

She thinks that other medical applications could come much sooner, though such as ways to help burn victims. When surgeons perform skin grafts, they frequently transfer the top layers of skin, or use lab-grown skin tissue. But its often an imperfect replacement for what was lost.

Thats because skin varies across the body; just compare the skin on your palm to that on your calf or armpit. The tissues that help skin to match its body position, giving it features like sweat glands and hair as appropriate, lie deeper than many grafts. The replacement skin, then, might not be just like the old skin. But if scientists could create skin with better positional information, they could make the transferred skin a better fit for its new location.

Monaghan, for his part, is thinking about regenerating retinas for people who have macular degeneration or eye trauma. Axolotls can regrow their retinas (though, surprisingly, their ability to regenerate the lens is limited to hatchlings). He is working with Northeastern University chemical engineer Rebecca Carrier, whos been developing materials for use in transplantations. Her collaborators are testing transplants in pigs and people, but find most of the transplanted cells are dying. Perhaps some additional material could create a pro-regeneration environment, and perhaps axolotls could suggest some ingredients.

Carrier and Monaghan experimented with the transplanted pig cells in lab dishes, and found they were more likely to survive and develop into retinal cells if grown together with axolotl retinas. The special ingredientseems to be a distinct set of chemicals that exist on axolotl, but not pig, retinas.Carrier hopes to use this information to create a chemical cocktail to help transplants succeed. Even partially restoring vision would be beneficial, Monaghan notes.

Thanks to genetic sequencing and modern molecular biology, researchers can continue to unlock the many remaining mysteries of regeneration: How does the wound epithelium create a regeneration-promoting environment? What determines which cells migrate into a blastema, and which stay put? How does the salamander manage to grow a new limb of exactly the right size, no larger, no smaller? These secrets and more remain hidden behind that Mona Lisa smile at least for now.

10.1146/knowable-012920-1

This article originally appeared in Knowable Magazine, an independent journalistic endeavor from Annual Reviews.

Here is the original post:
What the Axolotl's Limb-Regenerating Capabilities Have to Teach Us - Discover Magazine

Australian researchers have uncovered the genes that will make you healthy and able to live a long life, in a major scientific breakthrough.

The Garvan Institute of Medical Research has mapped the genomic data of 4000 Australians aged over 70 who have never developed cancer, heart disease or dementia.

"Effectively we have got a baseline measure of healthy internal or biological ageing," Professor David Thomas said.

"This indicates that the DNA in an individual's blood sample may provide a better indicator of their 'biological age' than their chronological age."

The Garvan Institute's Professor David Thomas. Picture: Supplied

The data base published in the journal Nature Communications is set to revolutionise our understanding of health and ageing as well as help speed up the discovery of which genes cause disease.

Scientists hoping to find the variant genes that cause cancer or other illnesses will be able to compare the genetic data of sick people against the data from the 4000 people in the healthy aged cohort.

This will allow them to dismiss genetic changes they know are consistent with healthy ageing when they are searching for gene variants that might cause disease.

"We are reducing the size of the haystack so we can find more needles," he said.

The Garvan Institute data is called the Medical Genome Reference Bank (MGRB).

When the researchers analysed the genomes of prostate cancer patients, they found that using the MGRB as a 'control' gave them a 25 per cent higher predictive power of disease-linked gene variants than another genome database commonly used by researchers to find such variants.

In an interesting twist the research has shown some people with genes for high cholesterol and those with variant BRCA genes linked to cancer do not go on to develop heart disease or cancer at least by age 70.

Nine of the healthy older people carried the variants in genes linked to breast and ovarian or cancer but had never developed cancer.

However, the healthy older people lacked bad copies of genes that were linked to prostate and bowel cancer compared to people who developed these diseases, the research found.

Healthy ageing is in our DNA. Picture: iStock

The researchers also found evidence of age-related 'rust marks' in the DNA from blood, suggesting a way of predicting biological age independently of chronological age.

These 'rust marks' included shortened telomeres (caps at the end of strands of DNA that act like caps on shoelaces).

Longer telomeres are associated with longer life.

Other rust marks included accumulation of mutations and changes to mitochondria, which supply energy to cells.

They found that grip strength, a measure of fitness in the elderly, was associated with higher levels of mitochondrial DNA in cells.

Healthy older people also had a faster gait (walking) speed than older people who had disease.

The healthy older people whose genome was mapped were also participants of two separate studies - the ASPREE study, which looked at the benefit of giving low dose aspirin to people, and the 45 and Up Study, which is the largest study of healthy ageing in the southern hemisphere.

Professor Thomas said the Garvan Institute was not offering a service where people could have their genome tested and compare it to the healthy aged population to work out their own chances of living a long and healthy life.

Professor of Genetics at Monash University in Melbourne Bruce Holloway, 92, is one of the healthy old people whose genome was mapped in the study.

Bruce Holloway, at age 92, still plays tennis at the North Balwyn Tennis Club. Picture: Alex Coppel

Although he has high blood pressure he has never had cancer, cardiac problems, arthritis or dementia.

Professor Holloway plays tennis twice a week, goes for regular walks and works out in the gym once a week.

He delivers and attends lectures at the University of the Third Age and gives talks at retirement villages.

"Both my parents lived to their nineties, I don't eat fatty foods or lots of carbohydrates or drink too much" he said.

Asked for the secret to his long life he replied: "moderation and moderation".

He eats a mostly Mediterranean diet consisting of pasta, olive oil, salad and vegetables, lots of fish but little red meat and he rarely eats dessert except for fresh fruit.

"I think human genomics will affect every aspect of medicine and any medical system that ignores it does so at their peril," he said.

"Living a long time is not on my bucket list, I just take each day as it comes," he said.

A range of genetic tests can be ordered over the internet for around $100 simply by providing a saliva swab.

Ancestry websites will tell you about your geographic origins and match you to potential relatives who may have already undertaken their DNA test.

Others will give you information on your likelihood of carrying genes for hair colour, taste preferences, dandruff, travel sickness unibrow and whether you can taste bitter and sweet foods.

Ancestry websites will tell you about your geographic origins and match you to potential relatives who may have already undertaken their DNA test. Picture: iStock

Some chemists offer DNA tests that will check whether you may not properly metabolise medicines including mental health drugs, blood thinners, cholesterol, beta blockers acid reflux and nausea and pain killers like codeine.

Doctors can order tests for certain genes that may cause cancer or inherited illnesses like Huntington's disease, cystic fibrosis, fragile X syndrome.

A full genome test can cost around $1,000 and will look at whether you carry genes that may make you more likely to develop certain cancers, heart disease and other genetically linked diseases.

It is crucial to get counselling when you have a genetic test for health reasons so you fully understand the real risk of developing illness and how to manage it. Picture: iStock

It is crucial to get counselling when you have a genetic test for health reasons so you fully understand the real risk of developing illness and how to manage it.

Be aware that recently law enforcement authorities used genetic data from ancestry websites to catch a mass rapist and murder from family trees of people who were related to people who had provided their DNA for testing.

There is still a lot scientists and researchers do not know about how genes are related to characteristics and illness.

Read more here:
Scientists discover the genes for a long and healthy life - Balonne Beacon

As infectious disease specialists and epidemiologists race to contain the outbreak of the novel coronavirus centered on Wuhan, China, theyre getting backup thats been possible only since the explosion in genetic technologies: a deep-dive into the DNA of the virus known as 2019-nCoV.

Analyses of the viral genome are already providing clues to the origins of the outbreak and even possible ways to treat the infection, a need that is becoming more urgent by the day: Early on Saturday in China, health officials reported 15 new fatalities in a single day, bringing the death toll to 41. There are now nearly 1,100 confirmed cases there.

Reading the DNA also allows researchers to monitor how 2019-nCoV is changing and provides a roadmap for developing a diagnostic test and a vaccine.

advertisement

The genetics can tell us the true timing of the first cases and whether they occurred earlier than officials realized, said molecular biologist Kristian Andersen of Scripps Research, an expert on viral genomes. It can also tell us how the outbreak started from a single event of a virus jumping from an infected animal to a person or from a lot of animals being infected. And the genetics can tell us whats sustaining the outbreak new introductions from animals or human-to-human transmission.

Scientists in China sequenced the viruss genome and made it available on Jan. 10, just a month after the Dec. 8 report of the first case of pneumonia from an unknown virus in Wuhan. In contrast, after the SARS outbreak began in late 2002, it took scientists much longer to sequence that coronavirus. It peaked in February 2003 and the complete genome of 29,727 nucleotides wasnt sequenced until that April.

Since the sequencing of the first 2019-nCoV sample, from an early patient, scientists have completed nearly two dozen more, said Andrew Rambaut of the University of Edinburgh, an expert on viral evolution. That pace is unprecedented and completely unbelievable, said Andersen, who worked on sequencing the Ebola genome during the 2014 outbreak. Its just insane.

The genome of the Wuhan virus is 29,903 bases long, one of many clues that have led scientists to believe it is very similar to SARS.

By comparing the two dozen genomes, scientists can address the when did this start question. The 24 available samples, including from Thailand and Shenzhen as well as Wuhan, show very limited genetic variation, Rambaut concluded on an online discussion forum where virologists have been sharing data and analyses. This is indicative of a relatively recent common ancestor for all these viruses.

Given whats known about the pace at which viral genomes mutate, if nCoV had been circulating in humans since significantly before the first case was reported on Dec. 8, the 24 genomes would differ more. Applying ballpark rates of viral evolution, Rambaut estimates that the Adam (or Eve) virus from which all others are descended first appeared no earlier than Oct. 30, 2019, and no later than Nov. 29.

The progenitor virus itself was almost certainly one that circulates harmlessly in bats (as SARS does) but has an intermediate reservoir in one or more animals that come into contact with people, Andersen said. Presumably, that reservoir is one of the species of animals at the Wuhan market thought to be ground zero for the outbreak. The ancestor of 2019-nCoV existed in that species for some unknown time, never infecting people, until by chance a single virus acquired a mutation that made it capable of jumping into and infecting humans.

The genome sequences suggest that was a one-time-only jump. The genomes [from the 24 samples] are very uniform, Andersen said. If there had been multiple introductions, including from many different animals, there would be more genomic diversity. This was a single introduction.

That means that whats sustaining the spread is human-to-human transmission (suggesting that closing Wuhans animal market is very much an after-the-horse-has-fled-the-barn reaction).

Unfortunately, genetic analysis cant identify what animal species the coronavirus jumped from into humans. But an analysis by a team from the Wuhan Institute of Virology, posted to the preprint server bioRxiv, determined that the genome of this coronavirus (the seventh known to infect humans) is 96% identical to that of a bat coronavirus, suggesting that species is the original source. (Writing in the New England Journal of Medicine on Friday, another team of scientists in China reported that the new coronavirus is 86.9% identical to the bat SARS-like coronavirus.)

Virologists differ on whether its possible to read out viral properties from just the genome sequence, such as whether the microbe is spread by coughing, sneezing, touching,or merely breathing. But the analysis by the Wuhan Institute team found that it enters human cells using the same doorway that SARS did. Called angiotensin converting enzyme 2 (ACE2), the door is a receptor to which a spike protein on the viruss surface first attaches and then enables the virus to fuse with the host cell.

If ACE2 is druggable, blocking it could conceivably treat 2019-nCoV. It should be expected and worth to test if ACE2 targeting drugs can be used for nCoV-2019 patients, the scientists wrote.

The genome sequences have more to give. They will be crucially important for development of diagnostics [and] vaccines, said biologist Richard Ebright of Rutgers University.

For instance, the genome-editing technology CRISPR is the basis for Cambridge, Mass.-based startup Sherlock Biosciences diagnostics, which promise to slash how long it takes to make a definitive identification. In the U.S, thats now done only by sending samples to the Centers for Disease Control and Prevention, which uses a technology invented in the 1980s, polymerase chain reaction or PCR, to identify the presence of coronavirus.

Our vision is that our [CRISPR-based] SHERLOCK and INSPECTR platforms are tailor-made for outbreaks like coronavirus, said Sherlock CEO Rahul Dhanda, who declined to discuss specific plans related to coronavirus.

And as scientists keep adding 2019-nCoV genome sequences to their collection, they could get an early glimpse of whether the virus is mutating in a way that could make it more dangerous or more transmissible. You need continuous sequencing, Andersen said.

See the original post here:
DNA sleuths read the coronavirus genome, tracing its origins - STAT