Category Archives: Genetics

The white-nationalist forum Stormfront hosts discussions on a wide range of topics, from politics to guns to The Lord of the Rings. And of particular and enduring interest: genetic ancestry tests. For white nationalists, DNA tests are a way to prove their racial purity. Of course, their results dont always come back that way. And how white nationalists try to explain away non-European ancestry is rather illuminating of their beliefs.

Will the Alt-Right Promote a New Kind of Racist Genetics?

Two years agobefore Donald Trump was elected president, before white nationalism had become central to the political conversationAaron Panofsky and Joan Donovan, sociologists then at the University of California, Los Angeles, set out to study Stormfront forum posts about genetic ancestry tests. They presented their study at the American Sociological Association meeting this Monday. (A preprint of the paper is now online.)After the events in Charlottesville this week, their research struck a particular chord with the audience.

For academics, there was some uneasiness around hearing that science is being used in this way and that some of the critiques that white nationalists are making of genetics are the same critiques social scientists make of genetics, says Donovan, who recently took up a position at the Data and Society Research Institute. On Stormfront, the researchers did encounter conspiracy theories and racist rants, but some white-nationalist interpretations of genetic ancestry tests were in fact quite sophisticatedand their views cannot all be easily dismissed as ignorance.

If we believe their politics comes from lack of sophistication because theyre unintelligent or uneducated, says Panofsky, I think were liable to make a lot of mistakes in how we cope with them.

Panofsky, Donovan, and their team of researchers analyzed 3,070 Stormfront posts spanning more than a decadeall from forum threads in which at least one user revealed the results of a DNA test. Some of the results were 100 percent European, as users expected. But oftensurprisingly often, says Panofskyusers disclosed tests results showing non-European ancestry. And despite revealing non-European ancestry on a forum full of white nationalists, they were not run off the site.

While some commenters reacted with anger, many reacted by offering up arguments to explain away the test results. These arguments largely fell into two camps.

First, they could simply reject all genetic ancestry testing. Genealogy or the so-called mirror test (When you look in the mirror, do you see a Jew? If not, youre good) were better tests of racial purity, some suggested. Others offered up conspiracies about DNA testing companies led by Jews: I think 23andMe might be a covert operation to get DNA the Jews could then use to create bio-weapons for use against us.

The second category of explanation was a lot more nuancedand echoed in many ways legitimate critiques of the tests. When companies like 23andMe or AncestryDNA return a result like 23 percent Iberian, for example, theyre noting similarities between the customers DNA and people currently living in that region. But people migrate; populations change. It doesnt pinpoint where ones ancestors actually lived. One Stormfront user wrote:

See, THIS is why I dont recommend these tests to people. Did they bother to tell you that there were whites in what is now Senegal all that time ago? No? So they led you to believe that youre mixed even though in all probability, you are simply related to some white fool who left some of his DNA with the locals in what is now Senegal.

Panofsky notes that legitimate scientific critiques are often distorted by a white-nationalist interpretation of history. For example, the mixing of DNA in a region would be explained by the heroic conquest of Vikings. Or a white female ancestor was raped by an African man.

The team also identified a third group of reactions: acceptance of the genetic ancestry test results. Some users did start to rethink white nationalism. Not the basic ideologyStormfronts forums are not exactly the place you would do thatbut the criteria for whiteness. For example, one user suggested a white-nationalist confederation, where different nations would have slightly different criteria for inclusion:

So in one nation having Ghengis Khan as your ancestor wont disqualify you, while in others it might. Hypothetically, I might take a DNA test and find that I dont qualify for every nation and every nations standards, though I'm sure that at least one of those nations (and probably many of them) will have standards that would include me

Another user dug deep into the technical details of genetic ancestry testing. The tests can rely on three different lines of evidence: the Y chromosome that comes from your fathers fathers father and so on, the mitochondrial DNA that comes from your mothers mothers mother and so on, and autosomal DNA that can come from either side. One user suggested that a purity in the Y chromosome and mitochondrial DNA were more important than in the autosomal DNA. But others disagreed.

Sociologists have long pointed out the categories of race are socially constructed. The criteria for who gets to be whiteItalians? Arabs? Mexicans?are determined by social rather than biological forces. And DNA is the newest way for white nationalists to look for differences between the races.

In these years of posts on Stormfront, you can see users attempting to make sense of DNA, figuring out in real time how genetics can be used to circumscribe and preserve whiteness. The test results are always open to interpretation.

Go here to see the original:
When White Nationalists Get DNA Tests Revealing African Ancestry ... - The Atlantic

Genes carry the information that make you you. So it's fitting that, when sequenced and stored in a computer, your genome takes up gobs of memoryup to 150 gigabytes. Multiply that across all the people who have gotten sequenced, and you're looking at some serious storage issues. If that's not enough, mining those genomes for useful insight means comparing them all to each other, to medical histories, and to the millions of scientific papers about genetics.

Sorting all that out is a perfect task for artificial intelligence. And plenty of AI startups have bent their efforts in that direction. On August 3, sequencing company Veritas Genetics bought one of the most influential: seven-year old Curoverse. Veritas thinks AI will help interpret the genetic risk of certain diseases and scour the ever-growing databases of genomic, medical, and scientific research. In a step forward, the company also hopes to use things like natural language processing and deep learning to help customers query their genetic data on demand.

It's not totally surprising that Veritas bought up Curoverse. Both companies spun out of George Church's prolific Harvard lab. Several years ago, Church started something called the Personal Genomics Project, with the goal of sequencing 100,000 human genomesand linking each one to participants' health information. Veritas' founders helped lead the sequencing partstarting as a prenatal testing service and launching a $1,000 full genome product in 2015while Curoverse worked on academic strategies to store and sort through all the data.

But more broadly, genomics and AI practically call out for one another. As a raw data format, a single person's genome takes up about 150 gigabytes. How!?! OK so, yes, storing a single base pair only takes up around two bits. Multiply that by roughly 3 billionthe total number of base pairs in your 23 chromosome pairsand you wind up with around 750 megabytes. But genetic sequencing isn't perfect. Mirza Cifric, Veritas Genetics cofounder and CEO, says his company reads each part of the genome at least 30 times in order to make sure their results are statistically significant. "And you gotta keep all that data, so you can refer back to it over time," says Cifric.

That's just storage. "Everything after that is going to specific areas and asking questions: Theres a variant at this location, a substitution of this base, a deletion here, or multiple copies of this same gene here, here, and here," says Cifric. Now, interpret all that. Oh, and do it across a thousand, hundred thousand, or million genomes. Querying all those genetic variations is how scientists get leads to find new drugs, or figure out how existing drugs work differently on different people.

But cross-referencing all those genomes is just the beginning. Curoverse, which was focusing on projects to store and sort genomic data, also has its work cut out for it in searching through the 6 millionand countingjargon-filled academic papers detailing gene behavior, including visual information found in charts, graphs, and illustrations.

That's pretty ambitious. Natural language processing is one of the stickiest problems in AI. "Look, I am a computer scientist, I love AI and machine learning, and no amount of coding makes sense to solve this," says Atul Butte, the director of UCSF's Institute of Computational Health Sciences. At his former job at Stanford University, Butte actually tried to do the same thinguse AI to dig through genetics research. He says in the end, it was way cheaper to hire people to read the papers and input the findings into his database manually.

But hey, never say never, right? However they accomplish it, Veritas wants to move past what companies like 23andMe and Color offer: genetic risk based on single-variant diseases. Some of America's biggest dangers come from diseases like diabetes and heart disease, which are activated by interactions between multiple genesin addition to environmental factors like diet and exercise. With AI, Cifric believes Veritas will be able to not only dig up these various genetic contributors, but also assign each a statistical score showing how much it contributes to the overall risk.

Again, Butte hates to be a spoilsport, but ... there's all sorts of problems with doing predictive diagnostics with genetic data. He points to a 2013 study that used polygenic testing to predict heart disease using the Framingham Heart Study dataabout as good as you can get, when it comes to health data and heart disease. "They authors showed that yes, given polygenic risk score, and blood levels, and lipid levels, and family history, you can predict within 10 years if someone will develop heart disease," says Butte. "But doctors could do the same thing without using the genome!"

He says the problems come down to just how messy it is trying to square up all the different research on each gene alongside the environmental risks, and all the other compounding factors that come up when you try to peer into the future. "Its been the holy grail for a long time, structured genome reporting," says Butte. Even attempts to get researchers to write and report data in a standard, machine-readable way, have fallen flat. "You get into questions that never go away. One researcher defines autism different from another one, or high blood pressure, or any number of things," he says.

Butte isn't a total naysayer. He says partnerships like the one between Veritas and Curoverse are becoming more commonlike the data processing deal between genetic sequencing giant Illumina and IBM Watsonbecause there's a clear need for new computing methods in this area. "You want to get to a point where you are developing stuff that improves clinical care," he says.

Or how about directly to the owners of the genomes? Cifric hopes the merger will improve the consumer experience of using genetic data, even seamlessly integrating it into daily life. For instance, linking your genome and health records to your digital assistant. Alexa, should I eat this last piece of pizza? Maybe you should skip it, depending on your baseline genetic risk for cholesterol and latest blood test results. Diet isn't the only area where genomics could help improve your day to day life. Some people are more or less sensitive to over the counter drugs. A quick query might tell you whether you should take a little less Tylenol than is recommended.

Cifric thinks this acquisition could position Veritas as a global powerhouse of genomic data. "Apple recently announced that they had shipped 41 million iPhones in a quarter, right? I think in not too distant future, well be doing 41 million genomes in a quarter," he says. That might seem ambitious, given that the cost to consumers is nearly $1,000. But that cost is bound to come down. And artificial intelligence will make paying for the genome a matter of common sense.

This story has been updated to reflect that the company is named Veritas Genetics, not Veritas Genomics.

More:
Veritas Genetics Scoops Up an AI Company to Sort Out Its DNA - WIRED

FORTY FORT, LUZERNE COUNTY (WBRE/WYOU) -- In a time when many wonder about career opportunities of the future, there is one that's showing signs of significant growth. It has to do with helping patients understand and address personal health risk factors.

The U.S. Bureau of Labor Statistics reports nearly 40,000 jobs were created last month in the health sector. Of that sector, one particular field is showing tremendous employment opportunity more than any other job.

What you're witnessing is the future of medicine: unlocking genetic code secrets to personalize treatment and even prevention of certain illnesses and conditions. Both in and out of these DNA labs are genetic counselors who gather and analyze family history and inheritance patterns to help identify individuals and families who may be at risk. "It's so such on the cutting edge of science and technology that it's continuously changing and there are always new things to really keep on top of and excite me," said Geisinger Genomic Medicine Institute Genetic Counselor Marci Schwartz.

Ms. Schwartz works in both cardiovascular and cancer genetics. By the end of 2024, the demand for genetic counselors like her is expected to grow by nearly 30 percent which is greater than any other job sector in the nation. So what's driving that demand? "We are now getting to the point where genetic information is really becoming relevant to clinical care," said Geisinger Genomic Medicine Institute Director Marc Williams, MD.

That care also includes targeted medicine in neurology, pediatrics, and prenatal genetics. Home to the 11 years and counting genome project "MyCode", Geisinger anticipates needing hundreds of genetic counselors in the next few years. "We have a huge opportunity but also this deficit in terms of training personnel," said Dr. Williams. Part of the genetic field job explosion is a recently created position by Geisinger called a genetic counseling assistant.

Geisinger Commonwealth School of Medicine in Scranton will soon offer a masters program in genomics but exploring career possibilities in this field can begin much sooner. "Some of the shadowing and volunteer experience can certainly be started in high school," said Ms. Schwartz.

You don't need to be a doctor to become a genetic counselor but you do need a masters degree. The starting salary for this growing profession is roughly $65,000 a year. You can learn more about career opportunities in genetic counseling by clicking here.

See original here:
Career Opportunity Explosion in Genetics - PA home page

George Frey | AFP | Getty Images

A lab technician at Myriad Genetics in Salt Lake City, Utah.

Thousands of people are getting genetic tests, for everything from their cancer risk to their likelihood of passing on a disease to a child.

But many doctors aren't adequately trained to interpret these results, or tell patients how to act on them. And genetic counselors -- who do have that knowledge -- are in short supply. There are only about 4,000 genetic counselors in the country today. That's one for every 80,000 Americans. That means some patients have to wait months to get a consultation.

Start-up Clear Genetics, which launches this week after raising $2.5 million in financing, is trying to make genetic expertise more widely available.

The start-up has developed a conversational chatbot to guide a user through their results, collect information and review options for genetic testing, and answer questions about things like whether the test will be covered by insurance. If there's a need for additional support, the patient can then schedule a consultation with a human expert via video or in-person.

"We're finding that it's working really well with patients," said Moran Snir, Clear Genetics' CEO, who was previously a software engineer with the Israeli military.

Clear Genetics is working with several large health systems in the United States to test out a beta version of its product.

"I think this is a very good use for AI," said David Ledbetter, executive vice president and chief scientific officer at hospital network Geisinger Health System, in an interview with CNBC.

Read the rest here:
You're getting a DNA test start-up Clear Genetics is building chatbots to help you understand the results - CNBC

A scientist from The University of Manchester has hit upon an innovative way to control greenflies which infest our gardens and farms.

Dr Mouhammad Shadi Khudr, discovered that living lacewing insects- which are used as a way to biocontrol greenflies are also effective after they have died.

Dr Khudr, an evolutionary ecologist based at the University's Division of Evolution and Genomic Sciences, discovered how genetic variations in greenflies' respond to the fear of predation by lacewing known as aphid lions.

The greenflys' genetic variation and life history influenced how they responded to traces of their predator.

He hit upon the discovery while looking at how different lineages of one species of greenfly responded to lacewings on a crop.

Even though each greenfly line had a distinct way of responding to the exposure to the traces of the aphid lion they all suffered from dramatic reduction in their reproduction, he says.

Dr khudr designed and lead the collaborative research, which was funded by the Freie Universitt Berlin (Free University of Berlin).

The research is published in the journal Scientific Reports today.

He said: "Whether alive or dead, lacewings make it more difficult for aphids to reproduce.

"The smell and visual impact of dead predators reduce the greenflies' capacity to give offspring and the way they clump together on the plants they infest."

He added: "This approach is at the crossroads of agricultural, evolutionary and ecological science.

"It is a unique way of understanding the effect of genetic variability corresponding with the risk of predation and thus should receive much more attention.

"It has organic, easy to produce and affordable applications and thus has a promising potential to help solve an age old problem which frustrates many gardeners.

"And it would be most interesting to see if this approach might also work with other pests and biocontrol agents in other agricultural systems."

Explore further: The genetics of life and death in an evolutionary arms-race

More information: Mouhammad Shadi Khudr et al. Fear of predation alters clone-specific performance in phloem-feeding prey, Scientific Reports (2017). DOI: 10.1038/s41598-017-07723-6

View original post here:
Genetics takes fight to gardeners' green foe - Phys.org - Phys.Org

With the usual mix of anticipation and apprehension, Kaitlyn Johnson is getting ready to go to her first summer camp. She's looking forward to meeting new friends and being able to ride horses, swim and host tea parties. She's also a little nervous and a little scared, like any 7-year-old facing her first sleepaway camp.

But the wonder is that Kaitlyn is leaving the house for anything but a medical facility. Diagnosed with leukemia when she was 18 months old, her life has been consumed with cancer treatments, doctors' visits and hospital stays.

Acute lymphoblastic leukemia is the most common cancer among young children, accounting for a quarter of all cancer cases in kids, and it has no cure. For about 85% to 90% of children, the leukemia can, however, be effectively treated through chemotherapy.

If it is not eliminated and comes back, it is, more often than not, fatal. Rounds of chemotherapy can buy patients time, but as the disease progresses, the periods of remission get shorter and shorter. "The options for these patients are not very good at all," says Dr. Theodore Laetsch, a pediatrician at the University of Texas Southwestern Medical Center.

When Kaitlyn's cancer wasn't controlled after three years and round after round of chemotherapy drugs, her doctors had little else to offer. "They said, 'This did nothing, it didn't touch it,'" says Kaitlyn's mother Mandy, a dental assistant from Royce City, Texas. "My stomach just dropped." Kaitlyn could receive a bone-marrow transplant, but only about half of those procedures are successful, and there was a good chance that she would reject the donor cells. If that happened, her chances of surviving were very small.

In a calculated gamble, her doctors suggested a radical new option: becoming a test subject in a trial of an experimental therapy that would, for the first time, use gene therapy to train a patient's immune system to recognize and destroy their cancer in the same way it dispatches bacteria and viruses. The strategy is the latest development in immunotherapy, a revolutionary approach to cancer treatment that uses a series of precision strikes to disintegrate cancer from within the body itself. Joining the trial was risky, since other attempts to activate the immune system hadn't really worked in the past. Mandy, her husband James and Kaitlyn traveled from their home in Texas to Children's Hospital of Philadelphia (CHOP), where they stayed in a hotel for eight weeks while Kaitlyn received the therapy and recovered. "The thought crossed my mind that Kaitlyn might not come home again," says Mandy. "I couldn't tell you how many times I would be in the bathroom at the hospital, spending an hour in the shower just crying, thinking, What are we going to do if this doesn't help her?"

But it did. After receiving the therapy in 2015, the cancer cells in Kaitlyn's body melted away. Test after test, including one that picks up one cancer cell in a million, still can't detect any malignant cells lurking in Kaitlyn's blood. What saved Kaitlyn was an infusion of her own immune cells that were genetically modified to destroy her leukemia. "You take someone who essentially has no possibility for a cure--almost every single one of these patients dies--and with [this] therapy, 90% go into remission," says Dr. David Porter, director of blood and bone-marrow transplantation at the University of Pennsylvania. Such radical immune-based approaches were launched in 2011 with the success of intravenous drugs that loosen the brakes on the immune system so it can see cancer cells and destroy them with the same vigor with which they attack bacteria and viruses. Now, with the genetically engineered immune cells known as chimeric antigen receptor (CAR) T cells that were used in Kaitlyn's study, doctors are crippling cancer in more precise and targeted ways than surgery, chemotherapy and radiation ever could. While the first cancer immunotherapies were broadly aimed at any cancer, experts are now repurposing the immune system into a personalized precision treatment that can not only recognize but also eliminate the cancer cells unique to each individual patient.

What makes immune-based therapies like CAR T cell therapy so promising--and so powerful--is that they are a living drug churned out by the patients themselves. The treatment isn't a pill or a liquid that has to be taken regularly, but a one-hit wonder that, when given a single time, trains the body to keep on treating, ideally for a lifetime.

"This therapy is utterly transformative for this kind of leukemia and also lymphoma," says Stephan Grupp, director of the cancer immunotherapy program at CHOP and one of the lead doctors treating patients in the study in which Kaitlyn participated.

Eager to bring this groundbreaking option to more patients, including those with other types of cancers, an advisory panel for the Food and Drug Administration voted unanimously in July to move the therapy beyond the testing phase, during which several hundred people have been able to take advantage of it, to become a standard therapy for children with certain leukemias if all other treatments have failed. While the FDA isn't obligated to follow the panel's advice, it often does, and it is expected to announce its decision in a matter of weeks.

Across the country, doctors are racing to enroll people with other cancers--breast, prostate, pancreatic, ovarian, sarcoma and brain, including the kind diagnosed in Senator John McCain--in hundreds of trials to see if they, too, will benefit from this novel approach. They are even cautiously allowing themselves to entertain the idea that this living drug may even lead to a cure for some of these patients. Curing cancers, rather than treating them, would result in a significant drop in the more than $120 billion currently spent each year on cancer care in the U.S., as well as untold suffering.

This revolutionary therapy, however, almost didn't happen. While the idea of using the body's immune cells against cancer has been around for a long time, the practical reality had proved daunting. Unlike infection-causing bacteria and viruses that are distinctly foreign to the body, cancer cells start out as healthy cells that mutate and grow out of control, and the immune system is loath to target its own cells.

"Only a handful of people were doing the research," says Dr. Carl June, director of the Center for Cellular Immunotherapy at the University of Pennsylvania's Abramson Cancer Center and the scientist who pioneered the therapy. A graduate of the U.S. Naval Academy, June is all too familiar with the devastating effects of cancer, having lost his first wife to ovarian cancer and battled skin cancer himself. Trial after trial failed as reinfusions of immune cells turned out to be more of a hit-or-miss endeavor than a reliable road to remission.

After spending nearly three decades on the problem, June zeroed in on a malignant fingerprint that could be exploited to stack the deck of a cancer patient's immune system with the right destructive cells to destroy the cancer.

In the case of leukemias, that marker turned out to be CD19, a protein that all cancerous blood cells sprout on their surface. June repurposed immune cells to carry a protein that would stick to CD19, along with another marker that would activate the immune cells to start attacking the cancer more aggressively once they found their malignant marks. Using a design initially developed by researchers at St. Jude Children's Research Hospital for such a combination, June and his colleague Bruce Levine perfected a way to genetically modify and grow these cancer-fighting cells in abundance in the lab and to test them in animals with leukemia. The resulting immune platoon of CAR T cells is uniquely equipped to ferret out and destroy cancer cells. But getting them into patients is a complex process. Doctors first remove a patient's immune cells from the blood, genetically tweak them in the lab to carry June's cancer-targeting combination and then infuse the modified cells back into the patient using an IV.

Because these repurposed immune cells continue to survive and divide, the therapy continues to work for months, years and, doctors hope, perhaps a lifetime. Similar to the way vaccines prompt the body to produce immune cells that can provide lifelong protection against viruses and bacteria, CAR T cell therapy could be a way to immunize against cancer. "The word vaccination would not be inappropriate," says Dr. Otis Brawley, chief medical officer of the American Cancer Society.

June's therapy worked surprisingly well in mice, shrinking tumors and, in some cases, eliminating them altogether. He applied for a grant at the National Cancer Institute at the National Institutes of Health to study the therapy in people from 2010 to 2011. But the idea was still so new that many scientists believed that testing it in people was too risky. In 1999, a teenager died days after receiving an experimental dose of genes to correct an inherited disorder, and anything involving gene therapy was viewed suspiciously. While such deaths aren't entirely unusual in experimental studies, there were ethical questions about whether the teenager and his family were adequately informed of the risks and concerns that the doctor in charge of the study had a financial conflict of interest in seeing the therapy develop. Officials in charge of the program acknowledged that important questions were raised by the trial and said they took the questions and concerns very seriously. But the entire gene-therapy program was shut down. All of that occurred at the University of Pennsylvania--where June was. His grant application was rejected.

It would take two more years before private funders--the Leukemia and Lymphoma Society and an alumnus of the university who was eager to support new cancer treatments--donated $5 million to give June the chance to bring his therapy to the first human patients.

The date July 31 has always been a milestone for Bill Ludwig, a retired corrections officer in New Jersey. It's the day that he joined the Marines as an 18-year-old, and the day, 30 years later, that he married his wife Darla.

It was also the day he went to the hospital to become the first person ever to receive the combination gene and CAR T cell therapy, in 2010. For Ludwig, the experimental therapy was his only remaining option. Like many people with leukemia, Ludwig had been living on borrowed time for a decade, counting the days between the chemotherapy treatments that would hold the cancer in his blood cells at bay for a time. Inevitably, like weeds in an untended garden, the leukemia cells would grow and take over his blood system again.

But the periods of reprieve were getting dangerously short. "I was running out of treatments," says Ludwig. So when his doctor mentioned the trial conducted by June and Porter at the University of Pennsylvania, he didn't hesitate. "I never thought that the clinical trial was going to cure me," he says. "I just wanted to live and to continue to fight. If there was something that would put me into the next month, still breathing, then that's what I was looking for."

When Ludwig signed the consent form for the treatment, he wasn't even told what to expect in terms of side effects or adverse reactions. The scientists had no way of predicting what would happen. "They explained that I was the first and that they obviously had no case law, so to speak," he says. So when he was hit with a severe fever, had difficulty breathing, showed signs of kidney failure and was admitted to the intensive care unit, he assumed that the treatment wasn't working.

His condition deteriorated so quickly and so intensely that doctors told him to call his family to his bedside, just four days after he received the modified cells. "I told my family I loved them and that I knew why they were there," he says. "I had already gone and had a cemetery plot, and already paid for my funeral."

Rather than signaling the end, Ludwig's severe illness turned out to be evidence that the immune cells he received were furiously at work, eliminating and sweeping away the huge burden of cancer cells choking up his bloodstream. But his doctors did not realize it at the time.

It wasn't until the second patient, Doug Olson, who received his CAR T cells about six weeks after Ludwig, that Porter had a eureka moment. When he received the call that Olson was also running a high fever, having trouble breathing and showing abnormal lab results, Porter realized that these were signs that the treatment was working. "It happens when you kill huge amounts of cancer cells all at the same time," Porter says. What threw him off initially is that it's rare for anything to wipe out that much cancer in people with Ludwig's and Olson's disease. June and Porter have since calculated that the T cells obliterated anywhere from 2.5 lb. to 7 lb. of cancer in Ludwig's and Olson's bodies. "I couldn't fathom that this is why they both were so sick," says Porter. "But I realized this is the cells: they were working, and working rapidly. It was not something we see with chemotherapy or anything else we have to treat this cancer."

Ludwig has now been in remission for seven years, and his success led to the larger study of CAR T cell therapy in children like Kaitlyn, who no longer respond to existing treatments for their cancer. The only side effect Ludwig has is a weakened immune system; because the treatment wipes out a category of his immune cells--the ones that turned cancerous--he returns to the University of Pennsylvania every seven weeks for an infusion of immunoglobulins to protect him from pneumonia and colds. Olson, too, is still cancer-free.

While the number of people who have received CAR T cell therapy is still small, the majority are in remission. That's especially encouraging for children, whose lives are permanently disrupted by the repeated cycles of treatments that currently are their only option. "It's a chance for these kids to have a normal life and a normal childhood that doesn't involve constant infusions, transfusions, infections and being away from their home, family and school," says Dr. Gwen Nichols, chief medical officer of the Leukemia and Lymphoma Society.

The hope is that while CAR T cell therapy will at first be reserved for people who have failed to respond to all standard treatments, eventually they won't have to wait that long. As doctors learn from pioneers like Kaitlyn, Ludwig and Olson, they will have more confidence in pushing the therapy earlier, when patients are stronger and the cancer is less advanced--perhaps as a replacement for or in combination with other treatments.

The severe immune reaction triggered by the therapy remains a big concern. While it can be monitored in the hospital and managed with steroids or antibodies that fight inflammation, there have been deaths in other trials involving CAR T cells. One drug company put one of its studies on hold due to the toxic side effects. "I am excited by CAR T therapy, but I'm also worried that some people might get too excited," says the American Cancer Society's Brawley. "It's important that we proceed slowly and do this meticulously so that we develop this in the right way."

For now, CAR T cells are expensive--some analysts estimate that each patient's batch of cells would cost hundreds of thousands of dollars--because they require a bespoke production process. If approved, Novartis, which licensed the technology from the University of Pennsylvania, will provide the therapy in about 35 cancer centers in the U.S. by the end of the year. Other companies are already working toward universal T cells that could be created for off-the-shelf use in any patient with cancer. "This is just the beginning," says June.

Since Ludwig's cancer has been in remission, he and his wife have packed their RV and taken the vacations they missed while he was a slave to his cancer and chemotherapy schedule. This year, they're visiting Mount Rushmore, Grand Teton National Park and Yellowstone National Park before taking their granddaughter to Disney World in the fall. "When they told me I was cancer-free, it was just like someone said, 'You won the lottery,'" he says. "If somebody else with this disease has the chance to walk in my shoes and live past it, that would be the greatest gift for me."

Link:
Cancer's Newest Miracle Combines Genetics and Immune System ... - TIME

THE NEWS that researchers have carried out the first known attempt to create genetically modified human embryos is another signpost in an astounding revolution unfolding before our eyes. This is not the first breakthrough nor will it be the last, but it should serve as a reminder an unmistakable one that this realm of scientific inquiry, manipulating the tiny building blocks of life, demands caution as well as enthusiasm and encouragement.

The latest effort, led by Shoukhrat Mitalipov of Oregon Health & Science University, with researchers from South Korea, China, the Salk Institute for Biological Studies in California and others, involved editing the DNA of single-cell embryos with CRISPR-Cas9, a tool for genome engineering that is much simpler, faster and cheaper than earlier methods, and which has sparked an explosion of interest in possible applications. According to a report published Wednesday in the journal Nature, the researchers were able to demonstrate that it is possible to safely and efficiently correct defective genes that cause inherited diseases.

The embryos they modified were not allowed to develop for more than a few days and were not implanted in a womb. In earlier research in China, the modified DNA was taken up by only some cells, not all, and suffered other setbacks, raising questions about its effectiveness. The latest research team reports it achieved efficiency, accuracy and safety with the approach.

If so, the research may be yet another step toward what is called germline engineering, or changing the genetic material in reproductive cells, so that any offspring would pass the changes on to future generations. The potential impact is huge; thousands of inherited diseases are caused by mutations in single genes, so editing the germline cells of individuals who carry these mutations could allow them to have children without the risk of passing on the conditions.

But the dangers and concerns are also significant. The technique could be used to enhance human traits beyond just eradicating disease, such as creating designer babies, or for other malevolent purposes. Genome editing was singled out for concern in a 2016 report to Congress from the U.S. intelligence community about potential wordwide threats: Given the broad distribution, low cost, and accelerated pace of development of this dual-use technology, its deliberate or unintentional misuse might lead to far-reaching economic and national security implications.

In a report this year, a panel of the National Academy of Sciences addressed the potential and the risks of germline engineering, concluding that basic research should proceed, closely watched. But the panel also said, Do not proceed at this time with human genome editing for purposes other than treatment or prevention of disease and disability. This seems to us to strike a reasonable balance, but one that will require vigilance transparency, oversight and public awareness to ensure the fruits of this remarkable revolution are not somehow abused or misused.

See the original post here:
A life-changing genetics breakthrough deserves celebration and demands caution - Washington Post

As a college student at the University of Mount Union in Alliance, Ohio, Megan McMinn studied biology, hoping to one day become a physician's assistant.

But a desire to interact even more with patients led her down a different path in genetic counseling.

"What genetic counseling gave me was a good split between patient care and the hard science research end of things," McMinn said.

At Geisinger Health System in Danville, Pa., McMinn sees about six patients a day, working in oncology. Soon, she'll move onto a cardiology clinic, helping to identify genetic risks for individuals and potentially their families. The system currently has 25 genetic counselors on staff, but anticipates needing hundreds more as genetic testing becomes cheaper and more accessible.

The trend extends far beyond Geisinger, as the field has grown dramatically in the past decade, touching all aspects of health-care as medicine becomes more personalized.

"Genetics permeates everythingthere won't be enough genetic counselors to see every patient who gets genetic information," said Mary Freivogel, president of the National Society of Genetic Counselors (NSGC).

As a result, the Bureau of Labor Statistics projects the occupation will grow by 29 percent through 2024, faster than the average for all occupations

"I think [a genetic counselor] will become a key member of the team, discussing with patients and families what to do next, how to figure out how the genome is going to interact with your lifestyle and make decisions about what you want to do medically," said Dr. David Feinberg, president and CEO of Geisinger Health System.

Genetic counselors typically receive a bachelor's degree in biology, social science or a related field, and then go on to receive specialized training. Master's degrees in genetic counseling are offered by programs accredited by the Accreditation Council for Genetic Counseling, offered at some 30 schools in the U.S. and Canada, according to the NSGC.

Those who want to be certified as genetic counselors must obtain a master's degree from an accredited program, but do not need to be doctors.

The NSGC is also working to recruit new talent by doing outreach in middle and high schools to let younger students know the field is an option in the future. Pay is competitive as wellon average, counselors make around $80,000 a year, but that can increase up to $250,000 annually depending on specialty, location and expertise, Freivogel said.

Health insurance often pays for genetic counseling, and for genetic testing when recommended by a counselor or doctor. However, it's important to check with insurers before scheduling any tests as coverage levels vary. Cost also varies greatly, for example, as multi-gene cancer panels can range from $300 to $4,000 depending on the type of test, the lab used and whether the patient goes through his or her insurance or pays out of pocket.

And while at-home tests like 23andMe are typically less expensive, those taking them still need to see a genetic counselor to explain their results.

Part of the reason more counselors will be needed in the future at Geisinger is because the health system is home to the MyCode Community Health Initiative, one of the largest biobanks of human DNA samples of its kind, according to Amy Sturm, director of Cardiovascular Genomic Counseling at Geisinger. The project has consent from more than 150,000 patients to participate in having their entire DNA code sequenced and synced with their electronic medical records, to look for new causes of disease and different ways to treat conditions.

"We are figuring out and researching the best way to deliver this information back to our patients and also back to families with the ultimate goal of preventing disease and improving the healthcare system," Sturm said.

Keeping up with the latest in genomics, where new developments happen almost daily, can be a challenge. Yet counselors like McMinn say the ability to impact more than just the patient by studying the genome makes the job well worth it.

"We are able to bring to the forefront the fact that we're not just taking care of the patient, but we're taking care of the entire family," McMinn said.

Here is the original post:
Genetic counseling field to rapidly expand - CNBC

Personal genetics company 23andMe will be teaming up with the Milken Institute, a think tank, and pharmaceutical company Lundbeck to drive enrollment for a genetic study designed to grasp the underlying biology of major depressive and bipolar disorders.The study will combine cognitive assessments with genetic data and survey responses to assess how genes influence brain processes -- such as attention, decision-making and visual perception -- in individuals who live with these serious mental health conditions.In the United States alone, more than 16 million people are living with a major depressive disorder, according to the National Institute of Mental Health, while nearly 6 million Americans suffer from bipolar disorder. The causes of these disorders are largely unknown, but there are clues: research from the National Alliance on Mental Illness, for example, suggests major depressive and bipolar disorders are caused by a combination of genetic, biological and environmental factors. Other studies back up the hypothesis that theres a genetic component involved.In August 2016 a landmark study was published by 23andMe, Massachusetts General Hospital and Pfizer, detailing the scientific connection between genetics and depression, said Anna Faaborg, Research Communities manager at 23andMe. In that study, we identified 15 genetic regions that were linked to depression. However, even with recent scientific advancements, more research is needed to help accelerate our understanding of these conditions and drive medical discoveries forward. We want to expand on the genetic component, looking at additional phenotypic factors of depression and bipolar, to hopefully gain a more holistic understanding of these diseases.To conduct this research, 23andMe intends to recruit 15,000 people with major depressive disorder and 10,000 people with bipolar disorder. The study is open to anyone aged 18 to 50 who has been diagnosed with major depressive disorder or bipolar disorder, has been prescribed medication to treat his/her condition, lives in the United States and has access to the internet through a desktop or laptop computer.This study is the first to combine data from genetics, cognitive tests and online surveys at this scale, said Faaborg. The hope is to gain a greater understanding of how genetics is related to brain functions such as attention, decision-making and reaction time. This knowledge of the biological underpinnings of disease could ultimately inform the development of novel, disease-modifying therapies.As part of the study, consenting participants will receive the 23andMe Personal Genome Service at no cost, including more than 75 personalized genetic reports about their health, traits and ancestry. Theyll provide a saliva sample for DNA genotyping, and then complete nine monthly online cognitive assessment sessions each lasting between 10-30 minutes. Participants de-identified data will be analyzed for clues as to how genetics and environmental factors combine to impact their brain function and behavior.Participants will receive regular updates about the progress of the study via email or newsletters. If there is a publishable result from the study, 23andMe will publish that information in a peer-reviewed journal and make it open access for all those interested in learning about the findings.At this early stage, we cannot anticipate where the data will lead us or exactly which analyses will be performed, said Faaborg.The study will build on 23andMes body of research in mood disorders. Its launch furthers the companys genetic discovery efforts with research collaborations already established in Parkinsons disease, lupus and inflammatory bowel disease, and more than 75 peer-reviewed papers published in scientific journals

Go here to see the original:
23andMe to launch study exploring role of genetics in depression, bipolar disorders - MobiHealthNews

Seattle Genetics has agreed to buy the Bristol-Myers Squibb manufacturing plant in Bothell for $43.3 million, giving the biotech the ability to make its own bulk quantities of antibodies for treating cancer.

Special to The Seattle Times

Seattle Genetics has agreed to buy the Bristol-Myers Squibb manufacturing plant in Bothell for $43.3 million, giving the biotech the ability to make its own bulk quantities of antibodies for treating cancer.

Until now the Bothell-based company has relied entirely on contract manufacturers.

Seattle Genetics will continue to use contract manufacturers because of its international footprint, but this will give us our first manufacturing facility that we actually own, said Clay Siegall, the companys chairman, president and CEO.

About 75 people work at the Bristol-Myers facility on Bothells Monte Villa Parkway. Our hope is to keep the team intact, Siegall said Tuesday.

Seattle Genetics now leases seven buildings in its Canyon Park campus, which is about 20 blocks north of the new property.

The company paid $17.8 million for the land and the building, and an additional $25.5 million for the equipment and the building improvements, Siegall said. The deal gives Seattle Genetics ownership of a fully staffed and operating plant that requires little modification.

Were really excited about this, he said. It gives us the ability to control more of our supply chain.

The company will use the plant to make vials of antibodies that are used to treat cancers. Its leading product, Advetris, is now approved for treating patients with two kinds of lymphomas.

Revenue at Seattle Genetics has climbed steadily in the last five years, but so have the losses. Last year the company lost $140million on total revenue of $418 million, according to company reports.

The sale could set the stage for Bristol-Myers exit from the region.

In December the New York-based company said it would not renew a lease that expires in 2019 for its ZymoGenetics unit on Seattles Lake Union. Bristol-Meyers bought the ZymoGenetics research arm in the former Seattle City Light Steam Plant, as well as the production plant now sold to Seattle Genetics, in 2010 for $885 million.

Continue reading here:
Seattle Genetics buys biotech factory in Bothell | The Seattle Times - The Seattle Times