Category Archives: Genetics

Mar 12th 2020

THE ATOMIC bomb convinced politicians that physics, though not readily comprehensible, was important, and that physicists should be given free rein. In the post-war years, particle accelerators grew from the size of squash courts to the size of cities, particle detectors from the scale of the table top to that of the family home. Many scientists in other disciplines looked askance at the money devoted to this big science and the vast, impersonal collaborations that it brought into being. Some looked on in envy. Some made plans.

The idea that sequencing the whole human genome might provide biology with some big science of its own first began to take root in the 1980s. In 1990 the Human Genome Project was officially launched, quickly growing into a global endeavour. Like other fields of big science it developed what one of the programmes leaders, the late John Sulston, called a tradition of hyperbole. The genome was Everest; it was the Apollo programme; it was the ultimate answer to that Delphic injunction, know thyself. And it was also, in prospect, a cornucopia of new knowledge, new understanding and new therapies.

By the time the completion of a (rather scrappy) draft sequence was announced at the White House in 2000, even the politicians were drinking the Kool-Aid. Tony Blair said it was the greatest breakthrough since antibiotics. Bill Clinton said it would revolutionise the diagnosis, prevention and treatment of most, if not all, human diseases. In coming years, doctors increasingly will be able to cure diseases like Alzheimers, Parkinsons, diabetes and cancer by attacking their genetic roots.

Such hype was always going to be hard to live up to, and for a long time the genome project failed comprehensively, prompting a certain Schadenfreude among those who had wanted biology kept small. The role of genetics in the assessment of peoples medical futures continued to be largely limited to testing for specific defects, such as the BRCA1 and BRCA2 mutations which, in the early 1990s, had been found to be responsible for some of the breast cancers that run in families.

To understand the lengthy gap between the promise and the reality of genomics, it is important to get a sense of what a genome really is. Although sequencing is related to an older technique of genetic analysis called mapping, it produces something much more appropriate to the White House kitchens than to the Map Room: a recipe. The genes strung out along the genomes chromosomesbig molecules of DNA, carefully packedare descriptions of lifes key ingredients: proteins. Between the genes proper are instructions as to how those ingredients should be used.

If every gene came in only one version, then that first human genome would have been a perfect recipe for a person. But genes come in many varietiesjust as chilies, or olive oils, or tinned anchovies do. Some genetic changes which are simple misprints in the ingredients specification are bad in and of themselvesjust as a meal prepared with fuel oil instead of olive oil would be inedible. Others are problematic only in the context of how the whole dish is put together.

The most notorious of the genes with obvious impacts on health were already known before the genome was sequenced. Thus there were already tests for cystic fibrosis and Huntingtons disease. The role of genes in common diseases turned out to be a lot more involved than many had naively assumed. This made genomics harder to turn into useful insight.

Take diabetes. In 2006 Francis Collins, then head of genome research at Americas National Institutes of Health, argued that there were more genes involved in diabetes than people thought. Medicine then recognised three such genes. Dr Collins thought there might be 12. Today the number of genes with known associations to type-2 diabetes stands at 94. Some of these genes have variants that increase a persons risk of the disease, others have variants that lower that risk. Most have roles in various other processes. None, on its own, amounts to a huge amount of risk. Taken together, though, they can be quite predictivewhich is why there is now an over-the-counter genetic test that measures peoples chances of developing the condition.

In the past few years, confidence in sciences ability to detect and quantify such genome-wide patterns of susceptibility has increased to the extent that they are being used as the basis for something known as a polygenic risk score (PRS). These are quite unlike the genetic tests people are used to. Those single-gene tests have a lot of predictive value: a person who has the Huntingtons gene will get Huntingtons; women with a dangerous BRCA1 mutation have an almost-two-in-three chance of breast cancer (unless they opt for a pre-emptive mastectomy). But the damaging variations they reveal are rare. The vast majority of the women who get breast cancer do not have BRCA mutations. Looking for the rare dangerous defects will reveal nothing about the other, subtler but still possibly relevant genetic traits those women do have.

Polygenic risk scores can be applied to everyone. They tell anyone how much more or less likely they are, on average, to develop a genetically linked condition. A recently developed PRS for a specific form of breast cancer looks at 313 different ways that genomes vary; those with the highest scores are four times more likely to develop the cancer than the average. In 2018 researchers developed a PRS for coronary heart disease that could identify about one in 12 people as being at significantly greater risk of a heart attack because of their genes.

Some argue that these scores are now reliable enough to bring into the clinic, something that would make it possible to target screening, smoking cessation, behavioural support and medications. However, hope that knowing their risk scores might drive people towards healthier lifestyles has not, so far, been validated by research; indeed, so far things look disappointing in that respect.

Assigning a PRS does not require sequencing a subjects whole genome. One just needs to look for a set of specific little markers in it, called SNPs. Over 70,000 such markers have now been associated with diseases in one way or another. But if sequencing someones genome is not necessary in order to inspect their SNPs, understanding what the SNPs are saying in the first place requires that a lot of people be sequenced. Turning patterns discovered in the SNPs into the basis of risk scores requires yet more, because you need to see the variations in a wide range of people representative of the genetic diversity of the population as a whole. At the moment people of white European heritage are often over-represented in samples.

The first genome cost, by some estimates, $3bn

The need for masses of genetic information from many, many human genomes is one of the main reasons why genomic medicine has taken off rather slowly. Over the course of the Human Genome Project, and for the years that followed, the cost of sequencing a genome fell quicklyas quickly as the fall in the cost of computing power expressed through Moores law. But it was falling from a great height: the first genome cost, by some estimates, $3bn. The gap between getting cheaper quickly and being cheap enough to sequence lots of genomes looked enormous.

In the late 2000s, though, fundamentally new types of sequencing technology became available and costs dropped suddenly (see chart). As a result, the amount of data that big genome centres could produce grew dramatically. Consider John Sulstons home base, the Wellcome Sanger Institute outside Cambridge, England. It provided more sequence data to the Human Genome Project than any other laboratory; at the time of its 20th anniversary, in 2012, it had produced, all told, almost 1m gigabytesone petabyteof genome data. By 2019, it was producing that same amount every 35 days. Nor is such speed the preserve of big-data factories. It is now possible to produce billions of letters of sequence in an hour or two using a device that could easily be mistaken for a chunky thumb drive, and which plugs into a laptop in the same way. A sequence as long as a human genome is a few hours work.

As a result, thousands, then tens of thousands and then hundreds of thousands of genomes were sequenced in labs around the world. In 2012 David Cameron, the British prime minister, created Genomics England, a firm owned by the government, and tasked initially with sequencing 100,000 genomes and integrating sequencing, analysis and reporting into the National Health Service. By the end of 2018 it had finished the 100,000th genome. It is now aiming to sequence five million. Chinas 100,000 genome effort started in 2017. The following year saw large-scale projects in Australia, America and Turkey. Dubai has said it will sequence all of its three million residents. Regeneron, a pharma firm, is working with Geisinger, a health-care provider, to analyse the genomes of 250,000 American patients. An international syndicate of investors from America, China, Ireland and Singapore is backing a 365m ($405m) project to sequence about 10% of the Irish population in search of disease genes.

Genes are not everything. Controls on their expressionepigentics, in the jargonand the effects of the environment need to be considered, too; the kitchen can have a distinctive effect on the way a recipe turns out. That is why biobanks are being funded by governments in Britain, America, China, Finland, Canada, Austria and Qatar. Their stores of frozen tissue samples, all carefully matched to clinical information about the person they came from, allow study both by sequencing and by other techniques. Researchers are keen to know what factors complicate the lines science draws from genes to clinical events.

Today various companies will sequence a genome commercially for $600-$700. Sequencing firms such as Illumina, Oxford Nanopore and Chinas BGI are competing to bring the cost down to $100. In the meantime, consumer-genomics firms will currently search out potentially interesting SNPs for between $100 and $200. Send off for a home-testing kit from 23andMe, which has been in business since 2006, and you will get a colourful box with friendly letters on the front saying Welcome to You. Spit in a test tube, send it back to the company and you will get inferences as to your ancestry and an assessment of various health traits. The health report will give you information about your predisposition to diabetes, macular degeneration and various other ailments. Other companies offer similar services.

Plenty of doctors and health professionals are understandably sceptical. Beyond the fact that many gene-testing websites are downright scams that offer bogus testing for intelligence, sporting ability or wine preference, the medical profession feels that people are not well equipped to understand the results of such tests, or to deal with their consequences.

An embarrassing example was provided last year by Matt Hancock, Britains health minister. In an effort to highlight the advantages of genetic tests, he revealed that one had shown him to be at heightened risk of prostate cancer, leading him to get checked out by his doctor. The test had not been carried out by Britains world-class clinical genomics services but by a private company; critics argued that Mr Hancock had misinterpreted the results and consequently wasted his doctors time.

23andMe laid off 14% of its staff in January

He would not be the first. In one case, documented in America, third-party analysis of genomic data obtained through a website convinced a woman that her 12-year-old daughter had a rare genetic disease; the girl was subjected to a battery of tests, consultations with seven cardiologists, two gynaecologists and an ophthalmologist and six emergency hospital visits, despite no clinical signs of disease and a negative result from a genetic test done by a doctor.

At present, because of privacy concerns, the fortunes of these direct-to-consumer companies are not looking great. 23andMe laid off 14% of its staff in January; Veritas, which pioneered the cheap sequencing of customers whole genomes, stopped operating in America last year. But as health records become electronic, and health advice becomes more personalised, having validated PRS scores for diabetes or cardiovascular disease could become more useful. The Type 2 diabetes report which 23andMe recently launched looks at over 1,000 SNPs. It uses a PRS based on data from more than 2.5m customers who have opted to contribute to the firms research base.

As yet, there is no compelling reason for most individuals to have their genome sequenced. If genetic insights are required, those which can be gleaned from SNP-based tests are sufficient for most purposes. Eventually, though, the increasing number of useful genetic tests may well make genome sequencing worthwhile. If your sequence is on file, many tests become simple computer searches (though not all: tests looking at the wear and tear the genome suffers over the course of a lifetime, which is important in diseases like cancer, only make sense after the damage is done). If PRSs and similar tests come to be seen as valuable, having a digital copy of your genome at hand to run them on might make sense.

Some wonder whether the right time and place to do this is at birth. In developed countries it is routine to take a pinprick of blood from the heel of a newborn baby and test it for a variety of diseases so that, if necessary, treatment can start quickly. That includes tests for sickle-cell disease, cystic fibrosis, phenylketonuria (a condition in which the body cannot break down phenylalanine, an amino acid). Some hospitals in America have already started offering to sequence a newborns genome.

Sequencing could pick up hundreds, or thousands, of rare genetic conditions. Mark Caulfield, chief scientist at Genomics England, says that one in 260 live births could have a rare condition that would not be spotted now but could be detected with a whole-genome sequence. Some worry, though, that it would also send children and parents out of the hospital with a burden of knowledge they might be better off withoutespecially if they conclude, incorrectly, that genetic risks are fixed and predestined. If there is unavoidable suffering in your childs future do you want to know? Do you want to tell them? If a child has inherited a worrying genetic trait, should you see if you have it yourselfor if your partner has? The ultimate answer to the commandment know thyself may not always be a happy one.

This article appeared in the Technology Quarterly section of the print edition under the headline "Welcome to you"

Read the original:
Genomics took a long time to fulfil its promise - The Economist

Progressive Genetics is suspending its manual milk recording service from 12:00pm tomorrow, Tuesday, March 17, due to the ongoing developments with Covid-19.

Taking measures to prevent the spread of the novel coronavirus, the agricultural services firm sent out a text to customers of its manual milk recording service earlier today, Monday, March 16, to inform them of the development.

The manual milk recording will be suspended for a two-week period and is expected to resume on Monday, March 30, according to the company.

Speaking to AgriLand about the decision, Progressive Genetics milk recording manager Stephen Connolly explained: We have to be responsible.

We want to protect our staff, our contractors and our farmers. Thats whats most important.

The manager assured that Electronic do it yourself (EDIY) milk recording will continue over the two-week period, adding:

We have a protocol in place to minimise contact with the farmer and if a farmer is under pressure with a [somatic] cell count issue or anything like that we will get EDIY staff to drop bottles out so that the farmer can do samples themselves, if there is a spike in cell count.

Commenting on the suspension, Connolly said: It is unfortunate and regrettable, but you need a bit of common sense. We do need to put best practice in place and then hopefully after the next two weeks we can get back manual milk recording.

We all have to play our part. Its trying to minimise everything as much as possible. We all need to do our bit, whether it be Progressive Genetics or farmers or the public, just to minimise the risk.

The manager reiterated that EDIY services remain in place, adding that strict protocols are being adhered to regarding minimising contact and disinfecting equipment between farms.

If a farmer has a problem, we will get bottles out to them for milk recording and cell count; we wont leave anyone in the lurch.

Were available to be contacted in the office or our supervisors are available to be contacted if farmers have any issues or anything like that well be on call.

Its just unfortunate. Its a challenge but we have to put common sense and peoples safety before anything else, Connolly concluded.

RELATED STORIES

Read more from the original source:
Progressive Genetics to suspend manual milk recording due to Covid-19 - Agriland

Maize is a staple food all over the world. In the United States, where its better known as corn, nearly 90 million acres were planted in 2018, earning $47.2 billion in crop cash receipts.

But, under the effects of climate change, this signature crop may not fare so well. As the world tries to feed a population skyrocketing to nine billion by 2050, that has major implications. So, what can we do about it? The answer might be exotic.

A multi-institutional team led byUniversity of Delaware plant geneticist Randy Wisserdecoded the genetic map for how maize from tropical environments can be adapted to the temperate U.S. summer growing season. Wisser sees these exotic varieties, which are rarely used in breeding, as key to creating next-era varieties of corn.

The research team included scientists from UD, North Carolina State University, University of Wisconsin, University of Missouri, Iowa State University, Texas A&M University and the U.S. Department of Agriculture-Agricultural Research Service.The resulting study, highlighted by the editorial board of Genetics, provides a new lens into the future viability of one of the worlds most important grains.

If we can expand the genetic base by using exotic varieties, perhaps we can counter stresses such as emerging diseases and drought associated with growing corn in a changing climate, says Wisser, associate professor in UDsDepartment of Plant and Soil Sciences. That is critical to ensuring ample production for the billions of people who depend on it for food and other products.

Modern maize strains were created from only a small fraction of the global maize population. This limited infusion of diversity raises concerns about the vulnerability of American corn in a shifting climate. TheU.S. Department of Agriculture (USDA) seed bankincludes tens of thousands of varieties, but many are just not being used.

We know that the tropical maize varieties represent our greatest reservoir of genetic diversity, says study co-author Jim Holland, a plant geneticist with the USDA Agricultural Research Service at North Carolina State. This study improved our understanding of those genetics, so we can use this information to guide future breeding efforts to safeguard the corn crop.

Certain exotic strains of maize better handle drought or waterlogging or low-nitrogen soil, for example. But because these strains have evolved outside the U.S., they are not immediately suited to states like Delaware. So, exotics first need to be pre-adapted.

In prior work, Wisser and his colleagues showed how 10 years of repeated genetic selection was required to adapt a tropical strain of maize to the temperate U.S. Co-author Arnel Hallauer spent a decade adapting the population through selective breeding, so it could flourish in an environment like Delaware.

Whats so cool now is that we could go back to the original generations from Hallauer and grow them side by side in the same field, Wisser says of the first-of-its-kind experimental design. This allows us to rule out the influence of the environment on each trait, directly exposing the genetic component of evolution. This has opened a back to the future channel where we can redesign our approach to developing modern varieties.

While extremely impressive, a decade to adapt exotic maize to new environments is a lot of time when the climate change clock is ticking.

Unfortunately, this process takes 10 years, which is not counting ongoing evaluations and integrating the exotic variations into more commonly used types of maize, Wisser says. With the climate threats we face, thats a long time. So, gaining insights into this evolutionary process will help us devise ways to shorten the time span.

Accelerating Adaptation

Wisser isnt wasting any time as he explores ways to bolster corns ability to survive and thrive. He and Holland are working on a new project to cut that time span in half.

In cutting-edge research funded by theU.S. Department of Agricultures National Institute of Food and Agriculture, the team is analyzing how corn genomes behave in a target environment as they aim to formulate a predictive model for fitness.

What were doing is sequencing the genomes and measuring traits like flowering time or disease for individuals in one generation. From this, we can generate a lookup table that allows us to foresee which individuals in the next generation have the best traits based on their genetic profiles alone, Wisser says. And our lookup table can be tailored to predict how the individuals will behave in a particular environment or location like Delaware.

That means plant breeders could grow a second generation of corn anywhere outside of Delaware, but still predict which individuals would be the most fit for Delawares environment.

For instance, even if the plants are grown at a location where a disease is not present, our prediction model can still select the resistant plants and cross them to enrich the genes that underlie resistance, Wisser says.

With this approach, researchers dont have to wait out a Delaware winter, so they can continue to pre-adapt the population for at least one extra generation per year. Thats how 10 years of selective breeding for pre-adaptation could become five, providing a quicker route to access exotic genes.

This new effort connects to theGenomes To Fields (G2F) Initiative, developed in 2013 for understanding and capitalizing on the link between genomes and crop performance for the benefit of growers, consumers and society.

If Wisser and Holland can develop a method to rapidly pre-adapt exotics, this opens a lane for G2F to test the impact of these unique genomes on crop performance.

Our goal is to advance the science so breeders can draw on a wider array of the diversity that has accumulated across thousands of years of evolution, explains Wisser, who has been involved in the public-private initiative since its beginning. In turn, they can produce improved varieties for producers and consumers facing the challenges of climate change.

Visit link:
Researchers Uncover the Genetics of How Corn Can Adapt Faster to New Climate - Seed World

Any given morning,Megan Roche, MD, is probably out running -- but we're not talking about a standard 5K. Roche is the2016 USA Track and Field ultrarunner and sub-ultrarunner of the year, a five-time national ultrarunning champion, a North American Mountain Running Champion and six-time member of the U.S. world ultrarunning team.

When she's not scaling muddy mountains or competing in races up to 50 miles long, Roche is working on her PhD in epidemiology, after completing a medical degree at Stanford in 2018. Her research enables her to continue running, coaching andwriting about runningwith her husband, a fellow ultramarathon winner, all while delving into the science of athletic performance.

She slowed down long enough to talk with me about her love of running and science, and how these two passions shape her career path.

How did you become interested in running and taking on longer distances?

I always knew I loved running. I played field hockey in college and then I took a fifth year to run track. From there, it was just a natural progression. I love nature and time out on trails, so running longer distances just means covering more ground in beautiful places. Plus, I enjoy the physiology element of longer-distance running. I think there's a lot of different variables that go into the longer distances, like fueling, the mental mindset and metering out your effort.

Do you think about what's happening in your body while running longer races?

I do sometimes. But honestly, when it hurts, I try to turn that off and just have a completely blank brain. After the fact, it's fun to go through and think about the different cellular processes that are going on as your body is going through that pain and putting out power. Even though it's unpleasant, it's a really beautiful element of human physiology that we can push the body to its limits.

How do you balance a sport and a profession that are both so time-intensive?

I get almost all my training done in the early morning. I'm a morning person, which helps. When I run or exercise it actually makes me more time efficient -- I feel like I need that energy release. Getting in the training is a way to prime my brain for the rest of the day. I probably spend about 13 or 14 hours a week training, so in the grand scheme of things, these are just hours that make me more productive down the road.

Does your running impact your research and vice versa?

It definitely does. One of my research focuses is genetic predictors of sports injury in athletes, working withStuart Kim, PhD. Some of that research involves genetic consulting with athletes and oftentimes training questions come up.

Another study I'm working on is the Healthy Runner Project withMichael Fredericson, MD;Emily Kraus, MD, andKristin Sainani, MD, PhD. There, we're looking at stress fracture rates in Stanford track and field athletes, and looking at preventing bone stress injuries, primarily through a nutrition intervention and making sure that athletes have sufficient energy availability. Being able to connect with the research participants as athletes is helpful. I also apply Healthy Runner research in my work as a running coach and in my writing.

Have you tested your own genetics?

I have. Fortunately, they're actually pretty good, in terms of injury markers. I did rupture my high hamstring tendons, recently, so I will be searching for a hamstring marker down the road.

What are you most proud of in your life thus far?

For me, the decision not to go to residency was one that was very difficult. Heading into medical school, I was interested in being an orthopedic surgeon, but I realized that it just wasn't conducive to all the other things I have going on in life.

I'm proud of being able to step off that path, being okay with taking a "career swerve" and ultimately finding what I love. Every morning I wake up, and I'm so excited to do the science and the running that I do with inspiring mentors and people that I care about. I'm proud of the decisions that got me to that point and grateful for the balance that I've found.

Photo by Daphne Sashin

Read the original post:
She's an ultrarunning champion, studying the genetics of sports injury - Scope

Dr. Yujen Edward Ted Hsia, a pioneer in medical genetics at the University of Hawaii who shepherded his patients and students through that challenging field with warmth and grace, has died at age 88.

Ted had an uncanny ability to praise, scold and teach in one sentence all with a smile on his face, said Janet Berg, a genetic metabolic nurse who was one of his protegees. He was passionate about his patients and his colleagues and treated us all as family.

Hsia suffered a brain bleed and fall Feb. 11 at his residence in Arcadia, where he had moved a few months ago, according to Duncan Hsia, one of his five sons.

He is definitely the father of genetics in Hawaii, said Dr. Laurie Seaver, a geneticist and former colleague. He essentially built the clinical genetics program at Kapiolani (Medical Center). He was as smart as anyone I have ever known.

Medical genetics involves diagnosing, treating and managing hereditary and metabolic disorders, from birth defects to genetic diseases.

Each patient that came to him was like a puzzle, and he was trying to put all the pieces together to figure out what was going on with them, Berg said. He was never afraid to try something new.

Its body, mind and spirit he told me that all the time, she added. We can do the science all we want, but if the rest isnt OK, we are not going to get very far.

Born in Shanghai on Nov. 24, 1931, Hsia was educated in England, earning his undergraduate and medical degrees from Oxford University. He taught genetics at Yale University for a decade before joining the University of Hawaii, where he was a professor of genetics and pediatrics.

He started and ran the medical genetics program in Hawaii from 1977 to 1998, teaching genetics to all the medical students and also treating and counseling many children and their families, Duncan Hsia said.

Ted Hsia helped launch Hawaii Community Genetics, a clinical collaboration among Kapiolani Medical Center, the Department of Health and the UH Medical School.

In retirement, Hsia shared his expertise with an eager set of learners often overlooked by society: the inmates at the Womens Community Correctional Facility.

For 18 years he visited the prison weekly, helping the women understand issues such as the genetic components of disease, from cancer to bipolar disorder, as part of the Total Life Recovery Program.

He was super dedicated, said Tammy Turcios, chaplain and director of that program. Even up to the last week before he passed away, he was trucking on up that hill.

He taught them about what drugs do to their brain, about any kind of disease, she said. He always came prepared with a lesson that captivated the women. They just loved his class.

His son Duncan said his personality as well as his intelligence set him apart: He was always smiling and so friendly and generous.

As word spread of his death, former patients weighed in with social media posts. Im alive because of him, wrote Jason Taylan.

Hsias faith anchored his life. He and his late wife, Juliet, a pioneering genetics counselor herself, joined Calvary-by-the-Sea Lutheran Church when they arrived in Honolulu. He gave keiki talks at services, calling children to the front of the sanctuary and offering lessons for them and the congregation.

A baritone, Hsia was a devoted member of the church choir, and he also performed with the Honolulu Symphony Choir.

Everybody just loves his smile, said Gordon Hsia, his youngest son. The main reason why my father was smiling was that he always had faith with God in his heart. The balance of being a geneticist and having such a strong faith in the Lord is just amazing.

Seaver, who visited Hsia a few weeks ago from her home in San Antonio, said he was proud to tell her that his former students were now taking care of him as doctors.

His survivors include sons Martin, Calvin, Franklin, Duncan and Gordon; and 12 grandchildren.

A memorial service will be held Sunday at 4 p.m. at Calvary-by-the-Sea Lutheran Church. In lieu of flowers, donations may be made to the Ted &Juliet Hsia Foundation, 1177 Queen St. No. 2002, Honolulu 96814.

Read more:
Dr. Y. Edward 'Ted' Hsia is remembered as 'father of medical genetics in Hawaii' - Honolulu Star-Advertiser

A genetics engineering company in Texas, US, has come forth with claims that it has developed a vaccine for the Novel Coronavirus (COVID-19).

As reported by the New York Post, Greffex Inc. says it has completed the vaccine this week at its laboratory in Aurora, Colorado. These comments were made by the companys Chief Executive Officer, John Price, who recently spoke to the Houston Business Journal.

In the report, Price explained that what they have is a possible cure that was developed using adenovirus-based vector vaccines. What this means is that the vaccine was not developed using a living or killed virus.

The trick in making a vaccine is can you scale the vaccine that youve made to be able to make a certain number of doses, can you test that vaccine quickly and efficiently and then can you get it into patients. And thats where we have an edge as well on the other companies that are out there, Price claimed in the report.

Price further reported that the vaccine will go to animal trials, overseen by the Food and Drug Administration (FDA) in the US and other regulatory bodies in China and other heavily affected countries.

At this time, the World Health Organisation (WHO) has not released any comments in this regard.

South Korea has become the second country, outside of China, with the highest number of reported coronavirus cases. Currently, the number of infected patients stands at 204.

On Friday, South Korean health officials confirmed 100 new cases, 87 of which were connected to a church in Daegu, a city with a population of 2.5 million people.

As reported by the New York Times, the church has more than 200 000 members worldwide and at this time, it is not known if there are any others from the church who may be infected.

According to the latest figures that came in from WHO on Friday, the coronavirus has claimed an estimated 2,247 lives, with tens of thousands more infected.

Here is the original post:
Coronavirus: Texas genetics company claims to have created a vaccine - The South African

DNA testing kits for humans and their pets are a growing business. The draw for consumers ranges from understanding why their dog looks like a Labrador but acts like a German Shepherd, or what diseases they might be prone to.

For a nominal fee, individuals collect saliva from their pet and mail it to the testing company. A lab extracts DNA from the sample, which is then analyzed at many sites within the genome, called single nucleotide polymorphisms (SNPs, and pronounced snips). SNPs are places in the DNA sequence where there is a genetic variant.

In humans, SNPs occur approximately every 1,000 base pairs of DNA, which means there are about five million SNPs in each person. Dog testing kits may analyze more than 20,000 SNPs to determine breeds.

We can apply the same approaches used in these DNA testing kits to wildlife conservation and management. My research in conservation genetics has used genetic testing in several projects, including tracking raccoons movements to understand the spread of raccoon rabies.

Because DNA is inherited from parents, siblings will share more genetic variants with each other than they would with anyone else. The more related individuals are, the more variants they have in common. Through analyzing known dog breeds, DNA testing companies know which SNP variants are more common within a breed.

For dog testing kits to be most effective, they require a large database of DNA samples from individuals of known breeds to develop baseline data. This is a challenge for wildlife researchers because access to samples is difficult. Wildlife researchers often employ creative techniques to obtain DNA samples, such as hair traps for bear samples or collecting caribou scat.

Another obstacle is knowing where the genetic variants are found in the genomes of most wildlife species. Thankfully, the importance of genomic information for human health has driven advances in DNA sequencing. This has lowered the costs and improved access to technology that was once too expensive.

Knowing where individuals originate can be very important for wildlife conservation and management. For example, researchers used SNPs to identify different stock populations of Atlantic cod throughout the North Atlantic. Their genetic assessment of populations could be used to track fisheries activities and identify illegal harvesting, which is nearly impossible to do without DNA information yet critical to ensure healthy stocks into the future.

To identify risk factors in dogs, researchers compare genetic variation in individuals with and without the disease or condition, such as the potentially devastating rupture of the anterior cruciate ligament. These are called genome-wide association studies.

There are a number of examples in nature where disease is resulting in significant loss of species biodiversity. The chytrid fungus (Batrachochytrium dendrobatidis) affects amphibian populations worldwide, resulting in global declines. White-nose syndrome, caused by the fungus Pseudogymnoascus destructans, has resulted in declining bat populations in North America. Chronic wasting disease, which affects deer, is considered an emerging threat to global biodiversity.

The identification of genetic variants that are associated with disease resistance in these systems would help wildlife managers understand disease spread. This could, in turn, identify what options may be available for management of the disease and the affected species.

There are a growing number of examples that demonstrate the feasibility of this approach, such as in the case of infectious upper respiratory tract disease in gopher tortoises. Researchers can use this information to identify tortoises that are resistant to the infection and include them in breeding programs for this endangered species.

The importance of genomic research for humans has helped to drive improvements in the technology that make it more cost-effective to study wildlife species. While there are a number of challenges that researchers face in using DNA, the benefits to wildlife conservation and management are clear.

Continue reading here:
How genetic testing is helping scientists save animals from disease and illegal hunting - The Conversation CA

Seattle Genetics in-licenses antibodies from Five Prime. Credit: Pixnio.

California-based Five Prime Therapeutics has signed a global license agreement with Seattle Genetics regarding a family of monoclonal antibodies for a single solid tumour target.

According to the terms of the agreement, Seattle Genetics will pay Five Prime $5m for exclusive rights to the antibodies, which the former will use to develop and commercialise novel antibody drug conjugate (ADC) therapies.

Seattle Genetics will be solely responsible for the research, development, manufacturing and commercialisation of the ADCs. However, Five Prime will be eligible for up to $525m in future development and regulatory milestone payments, as well as single-digit tired royalties.

Five Prime chairman and interim chief executive officer William Ringo said: We are pleased to enter into this license agreement with Seattle Genetics, a global leader that develops and commercializes transformative targeted cancer therapies that utilize its industry-leading ADC technology.

This agreement allows Five Prime to realize value from our pre-clinical pipeline while prioritizing our clinical investments based on upcoming data readouts for our programs.

Looking to the future, we will continue to seek strategic partnerships that allow us to maximize the value of our assets and the long-term potential of the company.

Seattle Genetics has a proprietary ADC technology platform, which it has leveraged for a range of biotech and pharma collaborations, including AbbVie, Roches Genentech and Genmab.

Five Prime also has a strong history of pharma collaborations, most notably with Bristol-Myers Squibb (BMS). The core of the BMS-Five Prime partnership is combining the formers Opdivo with Cabira in various solid cancers.

Most recently, Five Prime announced investigational antibody Cabira (cabiralizumab) plus Opdivo failed to meet its primary endpoint in a Phase II trial.

Five Prime vice-president and chief medical officer Helen Collins said: Pancreatic cancer is a difficult disease to treat, and unfortunately the combination of cabiralizumab and Opdivo with and without chemotherapy did not show any meaningful benefit over standard of care chemotherapy in this randomized, controlled Phase 2 trial.

We are disappointed by this outcome and appreciate the participation of the investigators, staff, patients, caregivers, and our development partner who all contributed to the conduct and completion of this Phase 2 clinical trial.

Follow this link:
Seattle Genetics in-licenses some of Five Prime's antibodies for $5m - pharmaceutical-technology.com

The key to a better understanding of schizophrenia may exist in a genetic disorder so rare that researchers havent been able to conduct an adequate study until now.

The genetic disorder 22q11.2 deletion syndrome (22q11DS), caused by a small segment of missing DNA on chromosome 22, is the strongest known genetic risk factor for developing schizophrenia. About a quarter of people with the disorder develop schizophrenia or experience psychotic symptoms, so studying it provides a unique window into how such psychiatric problems develop over time.

But theres one problem: Only about one in 4,000 people have it. Even a large city like Los Angeles may hold just a few hundred people with the condition.

Fortunately, the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) consortium, led by Paul M. Thompson, PhD, associate director of the Mark and Mary Stevens Neuroimaging and Informatics Institute (INI) at the Keck School of Medicine of USC, has spent the past 10 years uniting researchers around the world to pool data and insights on rare diseases. Now, ENIGMA has launched a new working group to study 22q11DS using data collected by researchers across the U.S., Canada, Europe, Australia and South America.

Weve pieced together many of the major research centers studying 22q11DS around the world to create the largest-ever neuroimaging study of the disorder, said Christopher Ching, PhD, a postdoctoral researcher at the INI and lead author of the working groups latest study.

Thompson, Ching and the ENIGMA 22q11.2 Deletion Syndrome Working Group published their results in the American Journal of Psychiatry on Feb. 12.

Correlations become clear with advanced neuroimaging

To get a clear picture of the brain abnormalities associated with schizophrenia in individuals with 22q11DS, the studys authors examined magnetic resonance imaging (MRI) scans from 533 people with the disorder and 330 healthy control subjects. Using advanced analytic techniques developed at the USC INI, the authors measured and mapped structural differences between the brains of the two groups.

Overall, individuals with 22q11DS had significantly lower brain volumes, as well as lower volumes in specific structures including the thalamus, hippocampus and amygdala, compared with the control group. They also had higher volumes in several brain structures. The magnitude of these abnormalities, especially in those 22q11DS individuals that had psychosis, was larger than is typical in many other common psychiatric conditions.

Notably, the brain changes seen in people with 22q11DS and psychosis significantly overlapped with the brain changes observed in the largest-ever neuroimaging studies of schizophrenia and other serious mental illnesses including bipolar disorder, major depression and obsessive-compulsive disorder.

Thats important because these overlapping brain signatures add evidence to support 22q11DS as a good model for understanding schizophrenia in the wider population, Ching said. And thanks to these large ENIGMA studies, we now have a way to directly compare standardized brain markers across major psychiatric illnesses on an unprecedented scale.

This powerful connection means that studying 22q11DS may provide a clear path toward finding a biomarker, or a reliable biological indicator, of schizophrenia. Because of the large sample size used in the analysis, the researchers also found that larger segments of missing DNA in 22q11DS are linked to more extensive brain abnormalities.

Next steps in research

Looking forward, the studys authors aim to explore the similarities between brain abnormalities in individuals with 22q11DS and those with schizophrenia, bipolar disorder, major depressive disorder and obsessive-compulsive disorder, drawing on data from other ENIGMA groups to better understand whether various psychiatric illnesses may share common origins and affect similar or distinct brain circuits.

The group also plans to use these new analytic tools to explore 22q11DS in animal models, where they can conduct more controlled experiments to better understand the effects of the missing DNA segments across development.

We can even experimentally manipulate specific genes within the locus to better understand how and when they are affecting the development of these brain structures, said Carrie Bearden, PhD, professor of psychiatry and biobehavioral science and psychology at the University of California, Los Angeles, chair of the working group and corresponding author of the study.

Zara Greenbaum

The study was funded by NIHgrantU54EB020403 from the Big Data to Knowledge (BD2K) Program, NIMH Grant RO1 MH085953, and NIA T32AG058507.

Go here to read the rest:
Remote collaborative research drives new insights on a rare genetic disorder linked to schizophrenia - USC News

Dwarf woolly mammoths that lived on Siberia's Wrangel Island until about 4,000 years ago were plagued by genetic problems, carrying DNA that increased their risk of diabetes, developmental defects and low sperm count, a new study finds.

These mammoths couldn't even smell flowers, the researchers reported.

"I have never been to Wrangel Island, but I am told by people who have that in the springtime, it's just basically covered in flowers," study lead researcher Vincent Lynch, an assistant professor of biological sciences at the University at Buffalo in New York, told Live Science. "[The mammoths] probably couldn't smell any of that."

Related: Mammoth resurrection: 11 hurdles to bringing back an ice age beast

Wrangel Island is a peculiarity. The vast majority of woolly mammoths died out at the end of the last ice age, about 10,500 years ago. But because of rising sea levels, a population of woolly mammoths became trapped on Wrangel Island and continued living there until their demise about 3,700 years ago. This population was so isolated and so small that it didn't have much genetic diversity, the researchers wrote in the new study.

Without genetic diversity, harmful genetic mutations likely accumulated as these woolly mammoths inbred, and this "may have contributed to their extinction," the researchers wrote in the study.

The team made the discovery by comparing the DNA of one Wrangel Island mammoth to that of three Asian elephants and two other woolly mammoths that lived in larger populations on the mainland.

"We were lucky in that someone had already sequenced the [Wrangel mammoth's] genome," Lynch said. "So, we just went to a database and downloaded it."

After comparing the mammoths' and elephants' genomes, the researchers found several genetic mutations that were unique to the Wrangel Island population. The team had a company synthesize these tweaked genes; then, the researchers popped those genes into elephant cells in petri dishes. These experiments allowed the researchers to analyze whether the proteins expressed by the Wrangel Island mammoth's genes carried out their duties correctly, by sending the right signals, for instance, in the elephant cells.

The team tested genes involved in neurological development, male fertility, insulin signaling and sense of smell. In a nutshell, the Wrangel Island mammoths were not very healthy, the researchers found, as none of those genes carried out their tasks correctly.

That said, the study looked at only one Wrangel Island mammoth, so it's possible that this individual's comrades didn't have similar genes. But "it's probably unlikely that it was just this one individual that had these defects," Lynch said.

In fact, the case of the Wrangel Island mammoths is a cautionary tale about what can happen to a population that is too small and therefore lacks genetic diversity, he said.

The findings build on those from a study published in 2017 in the journal PLOS Genetics that found that the Wrangel Island mammoth population was accumulating damaging mutations.

The new study was published online Feb. 7 in the journal Genome Biology and Evolution.

Originally published on Live Science.

Originally posted here:
The last woolly mammoths on Earth had disastrous DNA - Livescience.com