December 12, 2019 -Payers are using coordinated care and precision medicine to make diagnoses more quickly and ensure a strong treatment plan for severe and chronic disease management.

Early detection of chronic and severe diseases can mean the difference between life and death. It can also mean the difference between affordable therapies and crippling medical bills.

A March 2018 study found that early cancer diagnosis could result in significant cost savings nationally. Researchers looked at 17 types of cancer and estimated that early detection could save, conservatively, $26 billion nationally.

Recognizing what is at stake, payers take different approaches to catching severe or chronic illnesses in their formative stages.

Coordinated care is a simple, well-tested method for both chronic disease prevention and chronic disease management.

READ MORE: Chronic Disease Coordinated Care May Not Impact Pediatric Spending

Humana recently announced that it would pursue a traditional approach to ensure that patients in danger of chronic kidney and end of life renal disease find out early and get the support they need.

Humana will task skilled provider teams with catching these diseases earlier and implementing personalized treatments.

This coordinated care strategy builds a team of nephrologists, nurses, dietitians, and social workers from one of Humanas two partnerseither Monogram Health or Somatus, depending on geographic location.

The providers will work with the patients primary care physician to determine the best treatments and provide home healthcare options, patient education, and mental healthcare support through counseling.

This multidisciplinary approach will focus on detecting kidney disease earlier, slowing disease progression, and utilizing therapies that enable members to receive care in the convenience of their own home, said William Shrank, MD, MPHS, Humanas chief medical and corporate affairs officer.

READ MORE: Cigna and MSK Start Value-Based, Coordinated Cancer Care Program

Through this collaboration, we will strengthen care coordination for Humana members with kidney disease. Our partnerships will offer customized care options, and will empower patients with education and engagement tools to better manage their condition.

In February, Humana took a similar approach with its oncology program, enhancing its coordinated care strategy and using analytics to ensure quality care.

With new advancements every day in genetic therapies, precision medicine is another method payers use to ensure that patients receive a quick diagnosis and the best treatment plan.

CVS Health launched an oncology care program called Transform Oncology Care, which uses precision medicine to identify and treat cancer patients. The program is rolling out to Aetna members in 12 states but is also available for use by other payers.

Due to CVS Healths geographic and data footprint, it can assess the likelihood that a patient will get cancer. With that information, the patients provider can intervene early on to pursue preventive care, screenings, or therapies.

READ MORE: Precision Medicine Challenges Persist, Aetna Leads Response

When it comes to identifying the appropriate therapies, the program allows providers to use genetics to identify the best course of treatment for a patient recently diagnosed with cancer.

Timing in cancer care is everything and when a patient does not get started on the right treatment it can result in progression and higher costs, said Alan Lotvin, MD, executive vice president and chief transformation officer at CVS Health.

We are the first company working to make the latest in precision medicine accessible to more patients and further empower informed treatment decision-making based on a patient's genetic profile to give them the best chance for successful treatment and improved quality-of-life.

Working in coordination with its third-party vendor, Tempus, CVS Healths new program will enable patients to undergo a broad-panel gene sequencing test once diagnosed to determine the best treatment. This is ideal not only for patients in early stages of cancer, but especially for patients in more advanced stages who need to start treatment as soon as possible.

Because genomic sequencing has certain eligibility requirements, providers are not always aware that gene sequencing is an option open to their patient.

In order to ensure that oncologists prescribe gene sequencing to eligible patients, CVS Health introduced a web-based provider portal into its e-prescribing software which allows oncologists to see the patients eligibility for the broad-panel gene sequencing tests among other functions.

For those who qualify, the program identifies the best treatment options based on genetic makeup. It also alerts providers to potential clinical trials that patients can enroll in and makes the enrollment process easier and faster.

The program integrates National Comprehensive Cancer Network guidelines which are constantly updated for the most recent suggested prescribing and treatment options.

Critically, this service can be employed at the point of detection, so treatments can be identified immediately, and a therapeutic strategy quickly determined.

CVS Health combines this digital solution with a nurse-led coordinated care team to continue quality of care after the diagnosis.

This service is available for only fully insured commercial members.

Among its other chronic disease management developments, earlier this year, CVS Health used preventive care to improve diabetes treatment.

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Care Coordination and Precision Medicine Improve Early Diagnoses - HealthPayerIntelligence.com

ByGreg Rienzi

STOCKHOLMDuring his distinguished career, Gregg Semenza has given hundreds of lectures. In fact, for general scientific audiences, the Johns Hopkins University School of Medicine professor often gives a longer version of the very talk he presented on Sundaydetailing his discovery of the HIF-1 protein's role in human cell oxygen level regulationduring his Nobel Prize lecture at the Karolinska Institutet's Aula Medica auditorium.

But he's never presented to such a large crowd, let alone for such a crowning career achievement.

At the end of his Nobel Prize lecture, where in 30 minutes he effortlessly synthesized three decades of research on how the human body adapts to changes in oxygen availability, Semenza took ample time to thank the many people responsible for bringing him to this moment.

He dedicated his lecture to his high school biology teacher, Rose Nelson, pictured prominently in a slide of the many scientists whom he learned from.

Video credit: Len Turner and Dave Schmelick

"Dr. Nelson was my inspiration in science. I'm here because of her," Semenza told the crowd. He also thanked his early mentors at Johns Hopkins, chiefly professors of genetic medicine Haig Kazazian and Stylianos Antonarakis, both in the audience, and the late Victor McKusick, hailed as the "father of medical genetics." Indeed, the list of acknowledgments was long and detailed, naming nearly 150 faculty colleagues as well as students and postdocs who have collaborated with him over the years.

But before he was done, Semenza flashed a slide of his familyof him with his wife and three childrentaken on the beach during a vacation to Maine this past summer. "And last but not least, I'd like to thank " he began before pausing, tears welling in his eyes, voice cracking. He bowed his head briefly. In an instant, the emotion of the moment overtook him. Sensing the heartfelt struggle, the packed house of more than 800 attendees came to his aid with a roar of applause.

"Thank you," Semenza said, before pausing to take in a deep breath. "OK. I've got it together. I'd like to thank my wife, Laura; my sons, Evan and Gabe; my daughter, Allie, for always being there for me. Giving me unconditional love and support."

The moment was out of character for the usually reserved physician-scientist, but it gave a hint of the many emotions bubbling just beneath the surface during perhaps the most momentous week of his life.

"At that moment, I was feeling the power of my feelings for those people, particularly for my family, and it just became really kind of overwhelming," Semenza said the next morning. "That's never happened to me before. ... It caught me by surprise."

Video credit: Nobel Prize

On many occasions, Semenza has said sharing this Nobel Prize experience with family and friends is the pinnacle of the trip. A group of 30 family members and close friends have traveled to Stockholm to celebrate the week with him, including his four siblings, his mother, and her twin sister.

Beth Murphy, Semenza's sister, said it was both touching and surprising to see her older brother break down on stage, if only for a moment.

"It's not like him, for him to tear up like that," she said. "But obviously he went someplace deep inside of him."

She added that it's already been an emotional few days for their family as they share this unique experience with him, touring Stockholm and taking part in Nobel Week activities.

"I really, really love seeing how happy Gregg is," she said. "This is his life's work. To see him smiling from ear to ear the whole time is just fabulous."

Image credit: Will Kirk / Johns Hopkins University

Semenza's siblings have said the fame and attention of receiving science's highest honor have certainly not gotten to their brother, who has been celebrated at nearly every turn since he received news of the award in early October.

"He's the same humble, hardworking, and quiet guy he's always been," said brother Matt Semenza. "For us, it's been very exciting. I got to see him win the Gairdner Award [for Biomedical Research] in Toronto and the 2016 Albert Lasker Basic Medical Research Award in New York. So this is like the apogee of the award road trip we've been on with him."

Laurene Graig, Semenza's sister, added that while the emotional moment on stage might have been out of character, her brother's unselfishness and humility are not.

"I really appreciate that [Gregg] has recognized all the people who have helped and supported him along the way," she said. "I think it takes a certain amount of grace to do that. I'm very proud of him. We all are. There's been a lot of 'we' when he talks, not 'I' or "my.'"

Image caption: Semenza (center) with his family

Image credit: Will Kirk / Johns Hopkins University

When asked about his accomplishments and research, Semenza frequently credits others, and considers himself fortunate to happen upon the discoveries that brought him to this point. He traces it all back to his days growing up in New York.

Born in New York City in 1956, Semenza spent his formative years in Tarrytown, New York, a village located in Westchester County along the Hudson River. Semenza called it a "great place to grow up," a small-town atmosphere only a few train stops away from New York City where he would often go on the weekends to tour museums. His mother, Kathryn, taught at an elementary school, so learning and education were always priorities for the young Semenza.

At Sleepy Hollow High School, he learned to love science from Nelson, who during his junior year alerted him to an opportunity to take part in a National Science Foundation summer program at the Boyce Thompson Institute for Plant Research, an independent research institute then located in Yonkers, New York, and now located on the campus of Cornell University in Ithaca.

There he would do simple experiments like exposing plants to viruses and detailing the signs of infection.

"I was all thumbs back then because this was the first time I'd done it," Semenza said. "But I still enjoyed it. And this experience was really important for me because it showed me this was something I'd like to do for a career. It was just one more link in the chain of events that led me on the path that ended up here."

This exposure to science at such a young age, and the mentoring he received from Nelson, is largely why Semenza now champions STEM education and the teaching profession. That was what compelled him to not only dedicate his Nobel Prize lecture to Nelson, he said, but also to share the long list of undergraduate students, graduate students, and postdocs who have worked with him over the past three decades at Johns Hopkins.

"I stopped doing experiments in my lab back in 1996," he said. "Since then, all the data has been generated by students and trainees. I can have all the greatest ideas in the world, but science is about generating data. If I didn't have all these people doing that, all these ideas wouldn't matter. We're not philosophers. We're scientists. If we have an idea, if we have a hypothesis, we have to prove it."

Complete coverage

As Johns Hopkins physician-scientist Gregg Semenza travels to Stockholm to accept his Nobel Prize, the Hub takes readers along for the journey, from his arrival in Sweden to his Nobel lecture to the grand Nobel Award ceremony and banquet

Mentoring students, he says, has been vitally important to him, as he feels the need to repay the debt of what his mentors did for him and pay it forward to the next generation.

That next generation was notably present at his Nobel Prize lecture, a celebration of science that many consider the most exciting part of the week as people get to hear directly from the Nobel laureates about their significant contributions to their fields. A long line of mostly students and young researchers snaked around the Aula Medica building that day, down steps and around the block, students such as Stephanie Chanda, a first-year biomedicine master's student at the Karolinska Institutet who had been in line with friends for hours to ensure she got in and got a good seat. "Of course, we are very interested in the Nobel lecture because we want to be researchers ourselves one day," Chanda said.

Also in the crowd were Semenza's family and friends and colleagues, including several of those he thanked in his talk.

"Having family and friends here is really the most important part of this experience, sharing this with them," Semenza said. "It's been great to have [my mom] here. Nobody has been more excited than she has. She's become something of a local celebrity back in Tarrytown, appearing in all the media, newspaper and television. ... She's very into it. And she deserves the attention.

"It's been an exciting week," he added, "from the time we stepped out of the car at the Grand Hotel to the throng of autograph seekers standing out in the cold waiting for us to come, to the thrill of giving the Nobel lecture yesterday. And having so many friends and family here to enjoy it with. That's really what has made it most special for me."

Continued here:
A Nobel journey a lifetime in the making - The Hub at Johns Hopkins

ByGreg Rienzi

STOCKHOLMA small group of men clutching notebooks and folders gathered Thursday afternoon outside Stockholm's Grand Hotel, a 145-year-old luxe waterfront accommodation in the historic city's Old Town. They were autograph hunters, and many had been there for hours in the December cold waiting for the signatures of the hotel's guests of honor. Since 1901, the Grand Hotel has hosted Nobel laureates and their families, and Thursday was arrival day in Sweden's capital for most of this year's 14 award winners.

As the skies darkened and the biting Baltic Sea winds whipped across the Vartan Strait, the crowd of autograph hounds only grew. One such gentleman, a 70-year-old freelance photographer named Hans, has stood outside the hotel on arrival day every year since 1976, when he collected the signature of Saul Bellow, that year's winner of the Nobel Prize for literature. In a well-worn red notebook, he held signatures of dozensperhaps hundredsof laureates including author Alice Munro and British biochemist Gregory Winter. The next one he sought would go on a photo he kept in a folder. "I hope he will sign," Hans said, pointing to the name he'd written in black marker, Gregg L. Semenza.

Minutes later, the Johns Hopkins School of Medicine professor and winner of the 2019 Nobel Prize for physiology or medicine gladly obliged, signing a dozen autographs or more just moments after he was whisked out of a Volvo XC40 SUV, the official car of Nobel Week, and onto the red carpet accompanied by his wife, Laura Margaret Kasch-Semenza. Other bystanders whipped out their phones and cameras to capture the moment. Semenza had been in Stockholm less than an hour, and he was already getting the rock star treatment.

Video credit: Len Turner and Dave Schmelick

In this city, the home and birthplace of the Nobel Prize, laureates are treated as celebrities, and the associated ceremonies are as much a part of popular culture in Sweden as the Academy Awards are in the U.S. After laureates arrive in Stockholm, they face a gauntlet of a schedule that includes press conferences, champagne receptions, lectures, a concert, school visits, and a trip to the Swedish Riksdag (parliament), all leading up to the grand white-tie affair award ceremony held on Dec. 10 at the Stockholm Concert Hall. Laureates will also participate in Nobel Minds, a roundtable TV discussion that is celebrating its 60th anniversary this year.

Annika Pontikis, director of communications for the Nobel Foundation, said the week is a whirlwind for each award recipient, most of whom are certainly not used to this level of attention and pageantry.

"There is a lot of expectation in the air when they arrive in Stockholm," Pontikis said. "We do our best to prepare them before and after they arrive for what is about to happen. The people of Sweden have been looking forward to this."

Image credit: Will Kirk / Johns Hopkins University

To keep them on schedule and handle all the small details, each laureate is assigned a personal attach, a young diplomat from the Swedish foreign ministry who meets them the moment they step off the plane and stays with them for the entirety of their stay.

So began the Nobel Week journey for Semenza, 63, who earned the prize for the groundbreaking discovery of the gene that controls how cells respond to low oxygen levels. Semenza shares the award, and the $913,000 cash prize, with William G. Kaelin Jr. and Sir Peter J. Ratcliffe.

Considered among the most prestigious awards in the world, Nobel Prizes have been awarded for achievements in physics, chemistry, physiology or medicine, literature, and peace since 1901 by the Nobel Foundation in Stockholm. A total of 916 individuals and 24 organizations have received the prize named in memory of Sweden's own Alfred Nobel, a businessman, chemist, engineer, and inventor known for the discovery of dynamite.

The week officially kicked off Thursday with a morning press event held at the Nobel Prize Museum in the Old Town. On hand were representatives of the Nobel Foundation and some of the week's key participants, including Sebastian Gibrand, chef for the Nobel Banquet who won the silver medal earlier this year at the Bocuse d'Or, the world's most prestigious international culinary competition. For this year's banquet menu, Gibrand and a team of 40 chefs will focus on locally sourced ingredients from Swedish producers to feed the 1,300-plus guests, including the Swedish Royal Family.

"We will use everything from root to top, and nose to tail, to make sure we use all of the product and nothing goes to waste," said Gibrand, adding what a great honor it was to be hosting the prestigious dinner he views as a symbol of peace.

On Friday morning, the Nobel laureates visited the Nobel Prize Museum, where they each autographed a chair in the museum's restaurant and donated a specially selected artifact to the museum's collection. Semenza donated a 27-year-old autoradiogram, an image on an X-ray film produced by the pattern of decay emissions from a distribution of radioactive phosphorus. This particular image, he said, was a critical step in the discovery of hypoxia-inducible factor 1, or HIF-1, which has far-reaching implications in understanding the impact of decreased oxygen levels in blood disorders, cancer, diabetes, coronary artery disease, and other conditions.

Complete coverage

As Johns Hopkins physician-scientist Gregg Semenza travels to Stockholm to accept his Nobel Prize, the Hub takes readers along for the journey, from his arrival in Sweden to his Nobel lecture to the grand Nobel Award ceremony and banquet

Erika Lanner, CEO and director of the Nobel Prize Museum, said the artifacts give the museum's visitors an opportunity to learn more about the discoveries and works that the laureates are rewarded for.

"We are mainly a museum of stories and ideas," Lanner said. "These objects that we humbly ask the Nobel laureates to donate to us bring life, meaning, and body to these stories, which we hope will serve as inspiration for a young audience. They also help us understand and get closer to the person, which is important in itself."

The Nobel Prize is so unique and special, Lanner said, because it underscores the impact one individual can have.

"The Nobel Prize is about the possibilities for ideas to change the world," she said.

Image caption: A crowd gathers outside the Nobel Museum to catch a glimpse of the laureates as they attend a private welcoming ceremony Friday

Image credit: Will Kirk / Johns Hopkins University

Weeks before he left for Stockholm, Semenza said that he was looking forward to the gamut of events leading up to the award celebration. In many ways, life had already changed for the modest researcher, who has gotten used to posing for pictures and selfies everywhere he goes.

"In a way, it will be more hectic than it's already been for me, but I feel we've had so much preparation for that week and a half. It will be good just to be on autopilot and have an attach to tell me what to do every step of the way. And I'm very good at taking orders," Semenza said with a laugh.

He said he was most excited about taking in the once-in-a-lifetime experience with family, friends, and mentors who helped make his discovery possible, and who he hoped would enjoy the memorable experience as much as he would. Johns Hopkins will be well represented among Semenza's guests in Stockholm, who include JHU President Ronald J. Daniels; Paul B. Rothman, dean of the medical faculty and CEO of Johns Hopkins Medicine; Charles Wiener, professor of medicine and president of Johns Hopkins Medicine International; Haig Kazazian, professor of genetic medicine; Landon King, professor of medicine and executive vice dean for the School of Medicine; Ted Dawson, professor of neurology and director of the Institute for Cell Engineering; and David Valle, professor of genetic medicine and director of the Institute of Genetic Medicine.

Image caption: The Nobel Prize award ceremony is a highly formal affair. Semenza is fitted for a white tie tuxedo with tails.

Image credit: Will Kirk / Johns Hopkins University

Shortly after his Thursday arrival, Semenza was driven to Hans Allde tailor shop in the city's business district to be fitted for the tuxedo that he will wear on the day of the award ceremony and banquet. He was fitted personally by owner Lars Allde, the son of the store's founder, who has worked with the majority of Nobel laureates since 1982.

Semenza looked relaxed and beaming as he entered the store, greeted as a VIP and introduced to the official photographer of 2019 Nobel Prize winners, who told him: "Get used to me. I will be with you every step of the way."

The visit was a brief onehis only big decision was what type of bow tie he would wear. Semenza left the store eager to return to his hotel, get some sleep, and prepare for what lies ahead.

"Tomorrow we get going for sure," he said. "I'm really looking forward to it."

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For Nobel laureates, a whirlwind welcome - The Hub at Johns Hopkins

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Here are five things you ought to understand about science, according to professor of genetic medicine Gregg Semenza.

This week, Semenzaalong with William Kaelin Jr. and Peter Ratcliffewill accept the 2019 Nobel Prize in Physiology or Medicine in Stockholm, Sweden, for discovering the gene that controls how cells respond to low oxygen levels.

In the two months since the award was announced, Semenza, director of the vascular program at the Institute for Cell Engineering at Johns Hopkins University, has spoken with audiences around the world about the implications of this work in understanding and eventually treating blood disorders, blinding eye diseases, cancer, diabetes, and other conditions. But hes also spoken about the value of basic science.

Here are five things Semenza says he wishes more people knew about science:

The Nobel Prizes usually go to older scientists for discoveries they made when younger, and because of this, Semenza says people may think that good science is solely the domain of older people.

We often make these findings early in our careers, but it is only much later that the significance of those discoveries becomes apparent, he says.

A lot of science is about taking small steps forward. Big leaps are often the result of collaboration, Semenza says.

For example, when he and his lab identified the HIF-1 gene, which controls cells under low oxygen conditions, they initially ran into problems trying to clone the genes DNApart of the process of learning more about a genes function and other characteristics. He got help from fellow Johns Hopkins scientist Thomas Kelly, who had expertise in a workaround approach: purifying the protein made by HIF-1, which is another way to learn more about the gene and its function in the cell.

There are places with very smart people, and there are places where everybody is friendly, Semenza says. But there are few places with smart people who are almost always willing to help you.

When we wrote the manuscript reporting the discovery of HIF-1, we submitted it to top-tier journals, and they did not find it to be of sufficient interest to warrant publication.

But that didnt stop him: Semenza got help from scientist Victor McKusick, and the Proceedings of the National Academy of Sciences published the paper. It has been cited in more than 6,000 scientific publications.

In high school, I had a biology teacher who inspired me and others to pursue careers in scientific research by teaching us about the scientists and the scientific process that led to discoveries, Semenza says.

She would often preface her description of a scientific discovery by saying, When you win your Nobel Prize, I dont want you to forget that you learned that here. We need to give more emphasis to teachers and reward them for the work that they do, which makes such a difference in the lives of so many.

The inventions and discoveries that come out of basic research are critical for the economy, public health, and treating disease earlier, Semenza says.

It is better, both for patients and for the economy, to treat diseases early rather than later, and we need more research to learn how to more effectively treat many cancers.

Source: Johns Hopkins University

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5 things a Nobel Prize winner wants you to know about science - Futurity: Research News

University of Aberdeen researchers hope their study will help help unlock the potential of medicinal cannabis by avoiding side-effectsMike Blake/Reuters

Scientists have identified genetic information that explains why some cannabis smokers suffer depression and psychosis while others experience no negative side-effects.

Researchers from the University of Aberdeen used revolutionary DNA sequencing to study the genes that make cannabis receptors in the brain. These receptors were said to hold the key to understanding why people respond differently to some drugs and could help tailor medical treatments to an individual.

Potential cannabinoid treatments to combat disease, addiction and obesity have been hindered due to the unpredictability of side-effects, which can include depression and psychosis.

Dr Alasdair MacKenzie and Dr Elizabeth Hay, from the school of medicine, medical sciences and nutrition at the university, who led the study, said they hope their discovery will help unlock the potential

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Genetic switch could be key to psychosis in cannabis smokers - The Times

Drexel researchers have developed an algorithm toolkit that can identify communities of microbes in the human body and determine how they are functioning by finding patterns their genetic code.

An algorithm akin to the annoyingly helpful one that attempts to auto-complete text messages and emails is now being harnessed for a better cause. A group of Drexel University researchers are using its pattern-recognition ability to identify microbial communities in the body by sifting through volumes of genetic code. Their method could speed the development of medical treatments for microbiota-linked ailments like Crohns disease.

In the last decade, scientists have made tremendous progress in understanding that groups of bacteria and viruses that naturally coexist throughout the human body play an important role in some vital functions like digestion, metabolism and even fighting off diseases. But understanding just how they do it remains a question.

Researchers from Drexel are hoping to help answer that question through a clever combination of high-throughput genetic sequencing and natural language processing computer algorithms. Their research, which was recently published in the journal PLOS ONE, reports a new method of analyzing the codes found in RNA that can delineate human microbial communities and reveal how they operate.

Much of the research on the human microbial environment or microbiome has focused on identifying all of the different microbe species. And the nascent development of treatments for microbiota-linked maladies operates under the idea that imbalances or deviations in the microbiome are the source of health problems, such as indigestion or Crohns disease.

But to properly correct these imbalances its important for scientists to have a broader understanding of microbial communities as they exist both in the afflicted areas and throughout the entire body.

We are really just beginning to scrape the surface of understanding the health effects of microbiota, said Gail Rosen, PhD, an associate professor in Drexels College of Engineering, who was an author of the paper. In many ways scientists have jumped into this work without having a full picture of what these microbial communities look like, how prevalent they are and how their internal configuration affects their immediate environment within the human body.

Rosen heads Drexels Center for Biological Discovery from Big Data, a group of researchers that has been applying algorithms and machine learning to help decipher massive amounts of genetic sequencing information that has become available in the last handful of years. Their work and similar efforts around the world have moved microbiology and genetics research from the wet lab to the data center creating a computational approach to studying organism interactions and evolution, called metagenomics.

In this type of research, a scan of a genetic material sample DNA or RNA can be interpreted to reveal the organisms that are likely present. The method presented by Rosens group takes that one step farther by analyzing the genetic code to spot recurring patterns, an indication that certain groups of organisms microbes in this case are found together so frequently that its not a coincidence.

We call this method themetagenomics, because we are looking for recurring themes in microbiomes that are indicators of co-occurring groups of microbes, Rosen said. There are thousands of species of microbes living in the body, so if you think about all the permutations of groupings that could exist you can imagine what a daunting task it is to determine which of them are living in community with each other. Our method puts a pattern-spotting algorithm to work on the task, which saves a tremendous amount of time and eliminates some guesswork.

Current methods for studying microbiota, gut bacteria for example, take a sample from an area of the body and then look at the genetic material thats present. This process inherently lacks important context, according to the authors.

Its impossible to really understand what microbe communities are doing if we dont first understand the extent of the community and how frequently and where else they might be occurring in the body, said Steve Woloszynek, PhD, and MD trainee in Drexels College of Medicine and co-author of the paper. In other words, its hard to develop treatments to promote natural microbial coexistence if their natural state is not yet known.

Obtaining a full map of microbial communities, using themetagenomics, allows researchers to observe how they change over time both in healthy people and those suffering from diseases. And observing the difference between the two provides clues to the function of the community, as well as illuminating the configuration of microbe species that enables it.

Most metagenomics methods just tell you which microbes are abundant therefore likely important but they dont really tell you much about how each species is supporting other community members, Rosen said. With our method you get a picture of the configuration of the community for example, it may have E. coli and B. fragilis as the most abundant microbes and in pretty equal numbers which may indicate that theyre cross-feeding. Another community may have B. fragilis as the most abundant microbe, with many other microbes in equal, but lower, numbers which could indicate that they are feeding off whatever B. fragilis is making, without any cooperation.

One of the ultimate goals of analyzing human microbiota is to use the presence of certain microbe communities as indicators to identify diseases like Crohns or even specific types of cancer. To test their new method, the Drexel researchers put it up against similar topic modeling procedures that diagnose Crohns and mouth cancer by measuring the relative abundance of certain genetic sequences.

The themetagenomics method proved to be just as accurate predicting the diseases, but it does it much faster than the other topic modeling methods minutes versus days and it also teases out how each microbe species in the indicator community may contribute to the severity of the disease. With this level of granularity, researchers will be able to home in on particular genetic groupings when developing targeted treatments.

The group has made its themetagenomics analysis tools publicly available in hopes of speeding progress toward cures and treatments for these maladies.

It's very early right now, but the more that we understand about how the microbiome functions even just knowing that groups may be acting together then we can look into the metabolic pathways of these groups and intervene or control them, thus paving the way for drug development and therapy research, Rosen said.

This research was supported by the National Science Foundation.

In addition to Rosen and Woloszynek, and Zhengqiao Zhao, PhD, from the Department of Electrical and Computer Engineering; Joshua Mell, MD, from Drexels College of Medicine; and Gideon Simpson, PhD, and Michael OConnor, PhD, from Drexels College of Arts & Sciences, participated in the research.

Read the full paper here:http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0219235

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Teams of Microbes Are at Work in Our Bodies. Drexel Researchers Have Figured Out What They're up to. - DrexelNow - Drexel Now

SAN DIEGO, Dec. 12, 2019 /PRNewswire/ -- Aspen Neuroscience, Inc. today announced its launch following a $6.5 million seed round led by Domain Associates and Axon Ventures and including Alexandria Venture Investments,Arch Venture Partners,OrbiMedand Section 32 to develop the first autologous cell therapies for Parkinson's disease. Aspen's proprietary approach was developed by the company's co-founders, Jeanne F. Loring, Ph.D., Professor Emeritus and founding director of the Center for Regenerative Medicine at The Scripps Research Institute, and Andres Bratt-Leal, Ph.D., a former post-doctoral researcher in Dr. Loring's lab. The company was initially supported by Summit for Stem Cell, a founding partner and non-profit organization which provides a variety of services for people with Parkinson's disease. Aspen is led by industry veteran Howard J. Federoff, M.D., Ph.D., as Chief Executive Officer.

Parkinson's disease is characterized by the loss of specific brain cells that make the chemical dopamine. Without dopamine, nerve cells cannot communicate with muscles and people are left with debilitating motor problems. Aspen is focusing on human pluripotent stem cells, cultured cells that can become any cell type in the human body. The company's research is specific to induced pluripotent stem cells (iPSCs), which it develops by taking a skin biopsy from a person with Parkinson's disease and turning the tissue into pluripotent stem cells using genetic engineering. Aspen then differentiates the pluripotent stem cells into dopamine-releasing neurons that can be transplanted into that same person (autologous), thereby restoring the types of neurons lost in Parkinson's disease.

As an autologous cell therapy for Parkinson's disease, Aspen's treatment would eliminate the need for immunosuppression because the neurons are transplanted back into the same patient from which they were generated. The use of immunosuppression is necessary with currently available cell therapies for Parkinson's disease and when transplanting cells from one patient to another (allogeneic) to prevent rejection but can pre-dispose the patient to life-threatening complications including infection and add cost to the patient and health system. Aspen is the only company in the world offering an autologous neuron replacement therapy for Parkinson's disease.

Aspen encompasses a powerful executive leadership team including Dr. Federoff who, in addition to his leadership roles at the UC Irvine Health System, was the Executive Vice President for Health Sciences and the Executive Dean of Medicine at Georgetown University. Dr. Federoff also has significant biotech industry experience including co-founding MedGenesis Therapeutix and Brain Neurotherapy Bio, as well as leading the U.S. Parkinson's Disease Gene Therapy Study Group. The company is also proud to announce the addition of several experienced and well-known members to its leadership team including Edward Wirth, M.D., Ph.D., as Chief Medical Officer.

Dr. Wirth currently serves as the Chief Medical Ofcer for Lineage Cell Therapeutics where he oversees clinical development of its two therapeutic programs for spinal cord injuries and lung cancer. He received his M.D. and Ph.D. from the University of Florida in 1994 and remained to conduct postdoctoral research including leading the University of Florida team that performed the rst human embryonic spinal cord transplant in the U.S. Dr. Wirth went on to serve as the Medical Director for Regenerative Medicine at Geron Corporation where the world's rst clinical trial of human embryonic stem cell (hESC)-derived product occurred which demonstrated initial clinical safety.

Drs. Federoff and Wirth are joined by Dr. Loring, as Chief Scientific Officer; Jay Sial, as Chief Financial Officer; Andres Bratt-Leal, Ph.D., as Vice President of Research and Development; Thorsten Gorba, Ph.D., as Senior Director of Manufacturing and Naveen M. Krishnan, M.D., M.Phil., as Senior Director of Corporate Development.

"Aspen is developing a restorative, disease modifying autologous neuron therapy for people suffering from Parkinson's disease," said Dr. Federoff. "We are fortunate to have such a high-caliber scientific and medical leadership team to make our treatments a reality. Our cell replacement therapy, which originated in the laboratory of Dr. Jeanne Loring and was later supported by Summit for Stem Cell and its President, Ms. Jenifer Raub, has the potential to release dopamine and reconstruct neural networks where no disease-modifying therapies exist."

Aspen's lead product (ANPD001) is currently undergoing investigational new drug (IND)-enabling studies for the treatment of sporadic Parkinson's disease. Aspen is also developing a gene-edited autologous neuron therapy (ANPD002) that is in the research stage and targeted toward familial forms of Parkinson's disease beginning with the most common genetic variant in the gene encoding glucocerebrosidase (GBA). Aspen leverages proprietary machine-learning tools and artificial intelligence to ensure quality control during manufacturing and to deliver a safe and reproducible product for each cell line.

"Aspen's financial backing, combined with its experienced and proven leadership team, positions it well for future success," said Kim P. Kamdar, Ph.D., Partner at Domain Associates, one of Aspen's seed investors. "Domain prides itself on investing in companies that can translate scientific research into innovative medicines and therapies that make a difference in people's lives. We clearly see Aspen as fitting into that category, as it is the only company using a patient's own cells for replacement therapy in Parkinson's disease."

About Aspen Neuroscience

Aspen Neuroscience Inc. is a development stage, private biotechnology company that uses innovative genomic approaches combined with stem cell biology to deliver patient-specific, restorative cell therapies that modify the course of Parkinson's disease. Aspen's therapies are based upon the scientific work of world-renowned stem cell scientist, Dr. Jeanne Loring, who has developed a novel method for autologous neuron replacement. For more information and important updates, please visithttp://www.aspenneuroscience.com.

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Aspen Neuroscience Launches With $6.5 Million Seed Funding to Advance First-of-its-Kind Personalized Cell Therapy for Parkinson's Disease - P&T...

Professor Sir John Bell, Regius Professor of Medicine at the University of Oxford, delivered a speech at the MHRAs 14th Annual Lecture in London, outlining his vision for the UK life sciences industry. Here, Nikki Withers summarises the key take-home messages from the talk, including how UK researchers and investors should grab the bull by the horns and adopt a less risk-averse approach to research ideas, particularly in the genomics arena.

FROM THE discovery of antibiotics to the 100,000 Genomes Project, the UK has for many years played a leading role in health innovation and medical science. However, to ensure the country continues to be a key R&D player, focus needs to shift towards the next generation of therapeutics.

Looking forward, Professor Bell predicts that scientific research will focus on viral vectors and nucleic acid-based therapies over the coming years. Addressing an audience of about 200 healthcare leaders from the Life Sciences community, he stressed how important it was for the UK to jump on these opportunities. Despite being discovered in Cambridge, the UK was slow to exploit antibody technology to scale, he explained. It is crucially important we dont miss the next platform.

Appointed UK Life Sciences Champion by the Prime Minister in 2011 and author of the Life Sciences Industrial Strategy, Professor Bell has been at the forefront of the life sciences sector for many years. His vision is for the UK to focus on three key areas: genomics, digital health and early diagnosis.

The UK has a long history of genetics research, arguably originating from Darwin and his theory of evolution, according to Professor Bell. We are, without a shadow of a doubt, the leading country in the world in the genomic domain. He highlights two major projects: UK Biobank and Genomics Englands 100,000 Genomes Project, both of which push the UK up the ranks as leaders in genomics research.

UK Biobank is a global health resource that provides health information of 500,000 participants to researchers. Genotyping has been undertaken on all participants, providing a wealth of genomics information. Likewise, the ground-breaking 100,000 Genomes Project, launched by then-Prime Minister David Cameron in 2012 and led by Genomics England, is another example of a UK genetics programme that delivers large-scale data and is accessible for research scientists around the world.

The UK has a spectacular science base. Weve got three of the top 20 medical research programmes and two of the top universities in the world.

However, Professor Bell pointed out that the main challenge associated with this fast-moving research area relates to regulations. Gene editing, nucleic acid-based therapies, these are going to be the next big thing, he said. In genomics we need to regulate an expanding set of genetic tests where the indications and tools change daily, so the big question is how to get them regulated.

His suggestion was for regulators to concentrate on areas where innovation is at the cutting edge. They need to concentrate on speed and efficiency. The industry is frustrated by the lack of pace, particularly by European regulators.

Professor Bell also stressed his desire for researchers and investors to support high-risk science. Generally, investors dont want to invest and there is the dampening effect of peer review. The really interesting and high-risk stuff tends to get killed, he professed.

Concluding the talk, Professor Bell said: The UK has a spectacular science base. Weve got three of the top 20 medical research programmes and two of the top universities in the world. Weve got the largest biotech cluster outside of the US and the largest and most innovative drug regulator in Europe. For a pretty dinky island in the North Sea, were doing pretty well.

We need to get academia, the NHS and industry pharma, biotech, diagnostics and digital aligned to think hard about what the future of the UK might be and to identify the next opportunities to grow our research and economic base in the life sciences.

The future of Life Sciences: Keeping the UK at the forefront of medical and scientific excellence, was hosted by the MHRA on 9 October 2019 at The Kings Fund in London.

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Championing genomics in the UK: the next generation - Drug Target Review

Every minute of every day our bodies are bombarded with millions of different molecules that we breathe, eat and touch including bacteria, viruses, chemicals and seemingly harmless compounds like food and pollen.

For every one of these encounters, our immune system has to decide if the substance is a threat or not, if it is foreign or self and how the body should respond to stay healthy. To do this, we rely on two immune systems working in tandem.

Scientists have discovered a new human autoinflammatory disease that results from a mutation in an important gene in one of these systems.

The syndrome, now known as CRIA (cleavage-resistant RIPK1-induced autoinflammatory) syndrome causes recurring episodes of debilitating and distressing fever and inflammation.

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Our bodys first line of defence is the innate immune system that is effectively a hard wired and fast response, explains Dr Najoua Lalaoui from the Walter and Eliza Hall Institute of Medical Research (WEHI) and the Department of Medical Biology at the University of Melbourne.

This system works in the skin and mucous membranes like the mouth, making sure that any invaders like bacteria are detected and destroyed quickly, she says.

If pathogens do enter the body, the innate immune cells move to the site of infection and physically devour invaders and activate chemical messengers to alert the body.

This can lead to an inflammatory reaction where blood circulation is increased, the affected area becomes swollen and hot, and the person may experience fever. When these chemical messengers are over-active it can result in conditions like colitis, arthritis and psoriasis.

Supporting this system is the adaptive immunity system that involves antibodies that recognise and then train the body to respond to threats. This is our memory immunity and the basis of how vaccinations work.

Scientists from the WEHI, with colleagues at the National Institutes of Health (NIH) in the United States, have been working to understand why patients from three families suffered from a history of painful swollen lymph nodes, fever and inflammation.

The families had a range of other inflammatory symptoms which began in childhood and continued into their adult years.

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This type of repeated fever often indicates an issue with the innate immune system and the same disease in an extended family can indicate genetic changes that are passed from parents to their children, explains Dr Lalaoui.

Previous tests didnt identify any known cause.

But by sequencing the patients genomes, the NIH team identified a mutation in DNA that codes for a molecule known as RIPK that they suspected might cause the disease.

RIPK is a critical regulator of inflammation and the cell death pathway responsible for cleaning up damaged cells or those infected by pathogens.

Professor John Silke from the Walter and Eliza Hall Institute and his team have been studying RIPK1 for more than 10 years. His team had previously shown that damaging the RIPK1 gene could lead to uncontrolled inflammation and cell death.

RIPK1 is a potent controller of cell death, which means cells have had to develop many ways of regulating its activity, Professor Silke says.

In this paper, we showed that one way that the cell regulates its activity is by cleaving RIPK1 into two pieces to disarm the molecule and halt its role in driving inflammation.

In this condition (CRIA), the mutations are preventing the molecule from being cleaved into two pieces, resulting in autoinflammatory disease. This helped confirm that the mutations identified by the NIH researchers were indeed causing the disease, he says.

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He explains that mutations in RIPK1 can drive both too much inflammation as in autoinflammatory and autoimmune diseases and too little inflammation, resulting in immunodeficiency.

There is still a lot to learn about the varied roles of RIPK1 in cell death, and how we can effectively target RIPK1 to treat disease.

In CRIA syndrome, the mutation in RIPK1 overcomes all of the normal checks and balances that exist, resulting in uncontrolled cell death and inflammation, says Dr Steven Boyden from the National Human Genome Research Institute at the NIH.

Dr Boyden says the first clue that the disease was linked to cell death was when they delved into the patients exomes the part of the genome that encodes all of the proteins in the body.

The team sequenced the entire exome of each patient and discovered unique mutations in the exact same amino acid of RIPK1 in each of the three families.

It is remarkable, like lightning striking three times in the same place. Each of the three mutations has the same result it blocks cleavage of RIPK1 which shows how important RIPK1 cleavage is in maintaining the normal function of the cell, says Dr Boyden.

Dr Lalaoui said the WEHI researchers then confirmed the link between the RIPK1 mutations and CRIA syndrome in laboratory models.

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We showed that mice with mutations in the same location in RIPK1 as in the CRIA syndrome patients, had a similar exacerbation of inflammation, she says.

Dr Dan Kastner from NIH widely regarded as the father of autoinflammatory disease says colleagues had treated CRIA syndrome patients with a number of anti-inflammatory medications, including high doses of corticosteroids and biologics, compounds that block specific parts of the immune system.

And although some of the patients markedly improved, others responded less well or had significant side effects.

Understanding the molecular mechanism by which CRIA syndrome causes inflammation provides an opportunity to get right to the root of the problem, Dr Kastner says.

Dr Kastner noted that RIPK1 inhibitors, which are already available on a research basis, may provide a focused, precision medicine approach to treating patients.

RIPK1 inhibitors may be just what the doctor ordered for these patients. The discovery of CRIA syndrome also suggests a possible role for RIPK1 in a broad spectrum of human illnesses, such as colitis, arthritis and psoriasis.

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The genetic mutation behind a new autoinflammatory disease - Pursuit