StemCell Therapy

Asthma is the most common chronic respiratory disease in children, affecting approximately 6.1 million US children younger than 18 years.1 Asthmas hallmark characteristics chronic inflammation of the airways, bronchial hyperreactivity, airflow obstruction, and excessive mucus production lead to troublesome episodes of cough, wheezing, and dyspnea2 that require ongoing management and pose a consistent burden on the healthcare system.3

Furthermore, asthma can have a negative effect on the dailyroutines of both children and caregivers and hamper a childs academicperformance and ability to attend school. In 2013, the CDC found that 49% ofchildren with asthma reported 1 asthma-related missed school days.4

Although asthma can develop at any time throughout life, itmost often begins in childhood.5 A range of childhood risk factorsfor asthma have been identified in studies to date, including geneticsusceptibility, atopy, and microbial and environmental exposures.3

In this interview with Asthma Advisor, translationalresearcher Mitchell H. Grayson, MD, FAAAAI,FACAAI, chief of the Division of Allergy and Immunology at NationwideChildrens Hospital and professor of pediatrics at The Ohio State UniversityCollege of Medicine in Columbus, discussed the latest insights about theconnection between common viral infections and asthma in children.

AsthmaAdvisor: Which viral strains have been associated with the development of wheezingepisodes in children?

Mitchell H. Grayson, MD, FAAAAI, FACAAI: There are viruses that have been associated with the development of asthma and postviral wheeze, and then there are viruses associated with asthma exacerbations. Respiratory syncytial virus (RSV), rhinovirus, coronaviruses, and influenza have been associated with postviral wheeze and asthma onset; rhinovirus and coronaviruses have been more associated with exacerbations of existing disease than with induction of asthma.2 Also, parainfluenza virus types 1 and 3 have been associated with induction of disease, as well as exacerbation of existing asthma.2

AsthmaAdvisor: How is the number of wheezingepisodes in early childhood related to the development of asthma?

Dr Grayson: This is a complicated situation that leads to 2questions 1) What is asthma? and 2) What is a postviral wheeze? Obviously, wedo not get all excited about a child having asthma if they wheeze once, but thegray zone is when they wheeze 2 or more times.

First, there is no magic answer,but in the absence of emergency department visits or hospitalizations, if apatient wheezes more than 2 or 3 times due to viral illnesses, that patientprobably has asthma, but there is no hard and fast rule about that.

Asthma Advisor: In cases of true asthma, will asthma episodes also be provoked by other types of environmental stimuli?

Dr Grayson: Possibly; in children at least, almost all asthmais allergic asthma. Part of the problem in clearly defining asthma is thatwheezing is actually the lung being twitchy and bronchoconstrictingto an irritant of some sort it may be diesel smoke, a cat allergen, orrhinovirus, and that is where it becomes sort of problematic is this all thesame disease? We lump them together because the clinical symptoms are the same,but I would argue that the mechanisms of wheeze due to cat allergen andrhinovirus are very similar (immunoglobulin E [IgE] responses) but that dieselexhaust may not be driving asthma through an IgE response. So, there may bedifferent mechanisms upfront with the same downstream effect on the lung.

AsthmaAdvisor: How much is known about the connection between allergic sensitization andasthma? What comes first?

Dr. Grayson: Most studies have looked at sensitization at 1 year of age, and the problem is that the children were already wheezing before that. The COAST study (ClinicalTrials.gov Identifier: NCT00204841) investigators, for example, attempted mathematical modeling and proposed that rhinovirus infections cause asthma in children who already have atopic sensitization.6

There have also been some recentpublications suggesting that RSV infection leads to wheezing in children whoare not atopic to begin with vs the rhinovirus that leads to wheezing in childrenwho are atopic.2 So, there is a little confusion as to how thatmechanism is working. Generally, with RSV, the risk is in the age group between2 and 6 months2 who have a severe RSV infection; that is usually alittle young to be producing a lot of IgE vs the risk of asthma from rhinovirustends to be in children a little older, which would then align with the ideathat patients become atopic first.

There is also the atopic march, in which children develop atopic dermatitis in infancy and then allergic rhinitis by the time they are 3 or 4 years old and, finally, asthma by the time they are 5 or 6 years old. The traditional path to atopic asthma is one that develops with the atopic march, and therefore, clearly, the children are sensitized well before they start wheezing.7

AsthmaAdvisor: What are the risk factors for allergic asthma vs nonallergic asthma?

Dr Grayson: Allergies and allergic disease in the family andin the individual put one at risk for allergic asthma. Nonallergic asthma tendsto occur later in life and be more severe and is usually not associated witheosinophils in the peripheral blood and sputum.8,9 I would putviruses in the allergic asthma pot, although there have been studies thatsuggested that RSV drives nonallergic asthma. The risk factors for nonallergicasthma are not well defined and, in many ways, nonallergic asthma is theabsence of allergic asthma.

Asthma Advisor: What is the long-term outlook for children who develop allergic asthma in early childhood?

Dr Grayson: We do have children who outgrow their asthma. Inmany cases, it is like a lot of other allergic diseases that, when you get toyour 20s, seem to go away only to return in your 30s. In the vast majority of children,asthma gets better and becomes less problematic as the child gets older.10We assume that the more severe asthma is, the less likely it is that the childwill outgrow it, but we really do not have good predictors of who will outgrowtheir asthma.

AsthmaAdvisor: Is there a geneticsusceptibility in children who develop asthma after a viral infection?

Dr Grayson: I am not aware of any good studies findinga specific genetic link. There is no good genetic marker to predict if someonewill wheeze or not wheeze with a viral infection. With a family history ofatopy, you are more likely to have asthma, but whether you would have it with avirus is a different issue.

AsthmaAdvisor: How much is known about themechanism by which viral infections cause asthma exacerbations?

Dr Grayson: There are a couple of ideas about this. There was a clinical trial (ICATA Asthma Mechanistic Study; ClinicalTrials.gov Identifier: NCT00377390) where the investigators used anti-IgE therapy in children with allergic asthma and reduced asthma exacerbations in the pollen season, but they also reduced asthma exacerbations basically back to the level seen in the control group during the viral respiratory season in the winter.11 My argument would be that the anti-IgE therapy removes antiviral IgE, preventing mast cell activation and subsequent histamine release, all ending up preventing bronchoconstriction from the viral infection. If you do not have bronchoconstriction, it is likely that you will not have asthma. That is a rationale for using anti-IgE therapy to prevent viral induced wheezing and asthma.

Another explanation, proposed by the Inner-City Asthma Consortium, is that there is a certain type of dendritic cell that makes type I interferon, which is a major player in the antiviral immune response.12 Crosslinking IgE on these cells reduces the amount of type I interferon that they produce. So, if you are allergic and produce more IgE, you have an impaired immune response because you are making less type I interferon and, therefore, that leads to worsening disease.

I have 2 problems with this: First,I do not know about the mechanistic connection between type I interferon andwheeze, and second, solid data supporting the idea that viral titers are higher,or that type I interferon is markedly suppressed in patients with asthma, arelacking. We do not have a good studyusing antiviral IgE therapy at the time of initial viral infection to see if itwill prevent the development of postviral wheeze or a study where we giveindividuals a virus, whether they are or are not receiving antiviral IgEtherapy, to see if it will prevent them from wheezing.

Disclosure:Dr Grayson reported serving onadvisory boards for AstraZeneca, Genentech,Novartis, Genzyme, DBVTechnologies, and Aimmune.

References

Link:
Understanding the Links Between Asthma and Viral Infections in Children - Pulmonology Advisor

Image: Professor Chris Lord andDr Stephen Pettitt next to the olaparib display in the Science Museum's medicine galleries

The Science Museum's new 24 millionmedicine galleriesshowcases pioneering research from The Institute of Cancer Research, London, as part of its story of modern medicine.

The new galleries, which have transformed the first floor of the world-famous museum, explore humanity's relationship with medicine and health through more than 500 years of history.

Included in the exhibition are extraordinary medical artefacts from the collections of Henry Wellcome and the Science Museum Group, including the world's first MRI scanner, Fleming's penicillin mould, a professional pianist's prosthetic arm and robotic surgery equipment.

Science MuseumLatesare adults-only, after-hours theme nights that take place in the museum on the last Wednesday of every month. Medicine Lates was held on Wednesday 29 January.

Follow #smLates on Twitter

The museum chose to showcase the ICR's pioneering research underpinning the development of targeted drug olaparib, which has transformed the lives of tens of thousands of women with breastand ovariancancers.

Olaparib's origins lie in ICR research into the BRCA genes in the 1990s, when our scientists tracked down the BRCA2 gene.

A decade after the identification of BRCA2, ICR researchers found that targeting a DNA repair protein called PARP was a potential way to kill cancer cells with a faulty BRCA gene. This helped lead to the development of olaparib, and other so-called PARP inhibitors.

The gallery features plates which replicate the original ICR experiment to successfully show that olaparib specifically kills cancer cells with defects in their BRCA genes, while leaving healthy cells unaffected.

You can see these in the Medicine and Bodies gallery, which explores how the search to understand more about the human body has transformed medicine.

Displayed alongside Crick and Watson's molecular DNA model, the plates represent how understanding the genetic basis of cancer has transformed our ability to treat it through the creation of targeted therapies.

Professor Chris Lord,Deputy Head of the Breast Cancer Now Toby Robins Research CentreandDivision of Breast Cancer Researchat the ICR (pictured above), said:

"The fact that the Science Museum have chosen to highlight PARP inhibitors in their new gallery is a real testament to how cancer research can genuinely lead to improvements in the treatment of the disease. We are immensely proud of this, as are the other labs across the world who also contributed to these discoveries."

"Despite PARP inhibitors now being highlighted in Science Museum, this is not the end for us we are still working very hard at the ICR to think about how we can improve the effectiveness of these drugs and to make sure that each patient receives the best possible treatment approach."

Daisy Henesy, the ICRs Public Engagement Officer, said:

"It's a thrill to see the ICR's research showcased alongside other huge advances in modern medicine, and richly deserved.

"I urge everyone to visit the new Science Museum galleries and have a look for yourself and don't forget to tweet us with any pictures @ICR_Londonand let us know what you think!"

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ICR research showcased in major new Science Museum gallery documenting history of medicine - The Institute of Cancer Research

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Original post:
Friday Frontline: Cancer Updates, Research and Education on January 31, 2020 - Curetoday.com

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

10.1146/knowable-012920-1

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

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What the Axolotl's Limb-Regenerating Capabilities Have to Teach Us - Discover Magazine

More than 100 genes appear to be involved in autism spectrum disorders (ASD), according to the largest genetic study of the condition to date.

The study, involving over 50 centres around the globe, identified 102 genes associated with ASD including a few dozen that had not been recognised before.

Some of the genes are also associated with intellectual disabilities and developmental delays, the researchers said. But others are unique to ASD, and appear related to the social difficulties that mark the disorder.

Knowing the genes involved in ASD will help researchers better understand the causes and possibly develop new drug therapies for children with severe impairments, said senior researcher Joseph Buxbaum.

"Autism exists on a spectrum, and many people wouldn't need any new, targeted drug therapies because they're doing fine," said Buxbaum, who directs the Seaver Autism Center for Research and Treatment at Mount Sinai, in New York City.

But for children who are profoundly affected, he said, there could be promise in the "precision medicine" approach treatments that are tailored to individuals based on their characteristics, like the genes they carry.

ASD is a brain disorder that affects social skills, communication and behaviour control. In the United States, it affects one in 59 children, according to the US Centers for Disease Control and Prevention.

The disorder is complex and varies widely from one person to the next. Some children have milder problems with socialising and communicating, while others are profoundly affected speaking little, if at all, and getting wrapped up in repetitive, obsessive behaviours, for example. Some children with ASD have intellectual disabilities, while others have average or above-average IQs.

Experts have long believed that a combination of genetic susceptibility and environmental exposures conspire to cause ASD but genes are the bigger factor. A recent study, of about two million people, estimated that genes account for 80% of the risk of ASD.

But the precise genes will vary among individuals, experts say.

"We realise that large studies like this as well as even larger ones will be needed to truly understand why we say, 'If you have seen one person with autism, you have seen one person with autism,'" said Dean Hartley.

Hartley, who was not involved in the new study, is senior director of genomic discovery and translational science at the non-profit Autism Speaks.

Previously, researchers had identified 65 genes associated with ASD. Buxbaum said his team was able to find more, in part, because of the study size: It involved over 35 000 people, including nearly 12 000 with ASD; the rest were their parents, unaffected siblings or other individuals without ASD.

Using newer analytic techniques, Buxbaum said, the researchers were able to zero in on 102 genes associated with ASD.

Some genes, he explained, are "high risk" and carry outright mutations. Most people with ASD possibly 80% would not harbor those, according to Buxbaum. Instead, they would carry "tiny, tiny changes across multiple genes," he said.

More research is needed to understand precisely what all these genes do. But most risk genes are active early in brain development, and have roles in regulating the activity of other genes or communication among brain cells, the investigators found.

The risk genes are also active in both "excitatory" and "inhibitory" neurons (nerve cells). That, Buxbaum said, shows that autism is not only related to one major type of brain cell but involves "many disruptions" in brain cell function.

The findings were published online in the journal Cell.

New targets for treatments

Dr Andrew Adesman is chief of developmental and behavioural paediatrics at Cohen Children's Medical Center, in New Hyde Park, New York. He said, "This study represents yet another major advance in our understanding of some of the underlying genetic causes for ASD."

At this point, though, he noted, it's not possible to root out the genetic cause in most children diagnosed with ASD.

Hartley agreed that the latest findings could eventually lead to new therapies. "This study importantly confirms previous biological pathways in autism, but has identified new biological processes possibly involved," he added. "These pathways are important for finding new targets for treatment and more personalised health care."

The hunt for ASD-related genes is not over, however. Buxbaum said he expects a "couple hundred more" will be found.

Image credit: iStock

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Largest-ever study ties over 100 genes to autism - Health24

SOUTH SAN FRANCISCO, Jan. 23, 2020 /PRNewswire/ --Genome Medical, a leader in telegenomics-based clinical care, today announced that it has expanded its services to enable collaborative population genomics programs with health systems across the country. To support this augmented offering, the company has appointed renowned geneticist Huntington Willard, Ph.D., as Chief Scientific Officer and SVP, Medical Affairs.

Genome Medical uses its Genome Care DeliveryTM platform to drive large scale population genomics programs that will increase the understanding of genetic factors within specific populations. The information gleaned from these programs has the potential to help health systems and their clinicians understand how genetics and genomics contribute to the overall health and well-being of patients within the communities they serve.

The comprehensive range of services offered to health systems includes strategic advice and guidance; program development and implementation support; engagement of patients and providers; genetic testing coordination; and return of results to both patients and providers. Health systems will be able to create programs supported by a national network of licensed medical geneticists and genetic counselors, who are accessible on-demand through the company's telemedicine platform. This benefits not only patients and their families, but also clinicians who can receive consultation to determine appropriate clinical action plans.

"I am thrilled to bring new talent to the Genome Medical team as we expand our services," said Lisa Alderson, co-founder and CEO of Genome Medical. "Hunt has led multiple significant initiatives in genomics, including launching the National Precision Health program at Geisinger. Under his leadership, this team will help us execute on key partnerships with hospitals and health systems to further democratize genomics for all populations."

Willard brings decades of leadership experience in genetics and genomics to his position at Genome Medical, where he will oversee various strategic initiatives including clinical and research partnerships in population genomics with hospitals and health systems. He is an elected member of the National Academies of Medicine and of Sciences, a former president of the American Society of Human Genetics, and founding director of the Duke Institute for Genome Sciences and Policy. Most recently, he served as founding director of Geisinger National Precision Health.

"Genome Medical's business needs as a leading medical practice and telegenomics company align well with my expertise in developing and operating precision health initiatives," Willard said. "I look forward to working with Lisa and the team to transform the way hospitals and health systems utilize population genomics programs to improve the quality of clinical care."

In addition to Willard, Genome Medical also announced expansion of its population genomics team by welcoming two other former team members from Geisinger National, one of the world leaders in population genomics and precision health:

Genome Medical's network of genetic specialists and cloud-based Genome Care Delivery technology platform overcome the service delivery challenges in genetics. More than 50 clinicians are available for on-demand, virtual care in all 50 states across six specialty areas; this level of reach is paramount to the successful implementation of population genomics. The platform delivers education, engagement and provider-to-provider e-consultations, as well as genetic wellness assessments and screening for population health management.

About Genome MedicalGenome Medical is a national telegenomics technology, services and strategy company bringing genomic medicine to everyday care. Through our nationwide network of genetic specialists and efficient Genome Care DeliveryTM technology platform, we provide expert virtual genetic care for individuals and their families to improve health and well-being. We also help healthcare providers and their patients navigate the rapidly expanding field of genetics and utilize test results to understand the risk for disease, accelerate disease diagnosis, make informed treatment decisions and lower the cost of care. We are shepherding in a new era of genomic medicine by creating easy, efficient access to top genetic experts. Genome Medical is headquartered in South San Francisco. To learn more, visit http://www.genomemedical.comand follow @GenomeMed.

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WISCONSIN RAPIDS They thought their newborn baby was perfect, but a Wisconsin couple soon discovered he had a deadly disease. The FOX6 Investigators found the state of Wisconsin has, so far, declined to test newborns for the rare condition that killed their son.

It's a genetic disorder known as Krabbe disease, which affects fewer than 1 in 100,000 children. Experts say early detection is critical to an affected child's chances of survival. Other states are adding newborn screening for Krabbe, but state officials in Wisconsin say there's not enough research to justify the four-dollar test.

The first day of parenthood is all about nerves, and relief.

"What do I do?!" Kevin Cushman recalls thinking, the day his son, Collin, was born. "'I don't know what to do!' I said, 'Is he OK?' And she said, 'He's perfect.'"

"And he was," said Judy Cushman, Collin's mom. "I mean, he was perfect when he was born. He was perfect."

Kevin always wanted a boy, but he and Judy agreed that's not what mattered most.

"Just as long as they're healthy," he said.

"As long as the child is healthy," Judy repeated. "And I had every reason to believe that my child was going to be healthy."

Ten years later, they can hardly remember thosefirst few months when Collin was just like any other baby.

What they will never forget is when everything changed.

"His whole body is stiff," Kevin says in a home video recorded when Collin was about 9 months old.

That's when Collin's muscles began to get tight. His reactions slowed. He became incessantly irritable. And, eventually, his face fell into an open-mouthed expression that would never go away.

"I remember holding Collin with tears, going, 'What's wrong with my son?'" Kevin said.

The answer was worse than they'd ever imagined. Collin had a rare, genetic disorder known as Krabbe disease. That meant he was going to die at an early age.

"You know, your dreams are shattered," Kevin said.

First, there would be years of tube feedings, vibration machines, and round-the-clock care.

"It was... challenging," Kevin said.

Collin was lucky enough to survive until the age of 9. Most Krabbe children die before they turn 2.

"It's horrifying," said Dr. Barbara Burton, a specialist in genetic medicine at Lurie Children's Hospital of Chicago.

She says Krabbe disease is a form of leukodystrophy that causes the body's nerves to degenerate.

"You lose the coating on the nerve fibers that transmit signals from one nerve cell to another," said Dr. Burton.

"So as the myelin was destroyed, [Collin] slowly lost more and more abilities," his father said.

The disease affects fewer than one in every 100,000 newborns -- perhaps even as few as one in 400,000 -- and there is no cure. There is, however, a way to treat the disease and improve a child's chance of living a longer, more functional life.

"We would've had a totally different boy," Judy said.

The trouble is, the treatment -- a hematopoietic stem cell transplant, or HSCT -- only works to treat Krabbe if it's done within a baby's first 30 days alive. Most parents have no idea their child even has the disease until symptoms surface months later.

"By the time the symptoms show themselves, it's too late," Kevin said. "There's no hope."

In 2018, Dr. Burton joined a team of experts in publishing guidelines that recommend newborns be screened for Krabbe before they leave the hospital. All 50 states already have programs to test newborns for a host of other disorders by pricking the child's heel to draw blood and placing that blood inside circles on a laboratory test card.

"It might just be another circle that they fill out," Kevin Cushman said.

New York was the first state to start testing for Krabbe in 2006, followed by Missouri, Kentucky, Ohio, Tennessee, and Illinois. At least five more states are now working to implement the screening, but so far, Wisconsin has rejected efforts to add Krabbe to the 48 disorders tested for at birth, in part, because there's not enough long-term research to prove the treatment works.

"I hear that argument over and over again, and I think it's ridiculous because the same thing could be said for almost any other condition for which we do newborn screening," said Dr. Burton.

Five years ago, the Cushmans nominated Krabbe disease for inclusion in Wisconsin's newborn screening program, but Chuck Warzecha, deputy administrator for the Wisconsin Division of Public Health, said the test results in too many "false positives."

"There are some risks and emotional impacts on the family when they get that false positive," said Warzecha.

The state's 2015 review of Krabbe testing relied on research that's now more than 10 years old and Dr. Burton says newer testing is more accurate.

"Our technology has gotten much better," said Dr. Burton.

In addition, some Krabbe patients who have gotten transplants are living longer more functional lives.

"We know if it gets detected early that it's treatable," said Senator Patrick Testin, a Stevens Point Republican. He's working on a bill to require Krabbe testing in Wisconsin -- as long as the cost doesn't derail his plan.

"Yeah, that might be a potential roadblock," Testin said.

In 2015, the state said Krabbe screening would cost an extra $300,000 a year, or roughly $4 per test.

"For $4, why wouldn't you?" Judy asked.

"Try to imagine yourself in the shoes of a family who finds out their child has Krabbe disease, and then talk about whether $4 per baby is worth it," Dr. Burton said.

"No child should have to go through this," Kevin said.

Even if Collin had been tested for Krabbe at birth, the Cushmans can't say for sure if they would have gone through with a transplant. The procedure is risky, and some children don't survive.

"I would've given anything to have had that choice," Kevin said. "Even if it didn't change the outcome. As a father, I think I would've felt at least a little more comfortable knowing that I literally did everything I could to save my child."

Of course, the risk of an early death without the transplant is 100%.

On Jan. 6, 2019 -- seven years to the day after Collin was diagnosed -- his father held him for the last time.

"I was gonna hold him as long as it took," he said. "If it took two days before he passed, I was not gonna let go of him."

It's not how the Cushmans imagined things when they welcomed their firstborn child into the world, but they couldn't have asked for a better goodbye.

"Surrounded by family," said Kevin Cushman. "It was perfect."

Krabbe is not on the federal government's recommended list of disorders for newborn screening, but two similar disorders are, including Pompe disease. The state of Wisconsin recently completed a pilot project for Pompe, and they are considering whether to test for it permanently. If they do, DHS says adding Krabbe testing after that would be less expensive than it would have been in the past, because the equipment and training would be similar.

For now, Krabbe is not part of Wisconsin's newborn screening program. The Cushmans intend to keep pushing until it is.

Krabbe is a recessive genetic disorder that is passed down, like blue eyes or attached earlobes. A child is only at risk if both parents are carriers of the mutated gene that causes Krabbe. Even then, there's only a 25% chance the child will get the Krabbe gene from both of them.

Parents can be tested before having a baby to determine if they are carriers of the disease, but -- because it is so rare -- most soon-to-be parents know nothing about it.

Even after Collin was diagnosed, the Cushmans chose to have a second child. This time, they knew there was a 25% risk the second child would have Krabbe. Judy Cushman called it "the worst lottery ever."

Fortunately for them, Kendra Cushman was born without the disease. Five years later, she is symptom free.

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Whats wrong with my son? Wisconsin rejects $4 test for rare, terminal disease - WITI FOX 6 Milwaukee

Brain food: Autism appears to be closely linked to headaches.

Maya23K / iStock

People with autism have more brain-related health problems, such as headaches and epilepsy, than typical people do, according to a survey of twins1. The study is the first to look at associations between autism and physical health problems among twins.

The study found no association between autism and other physical conditions, such as gastrointestinal problems and infectious diseases, however.

I find it particularly remarkable that our results are so clear in terms of confirming that [autism] but also autistic traits are associated with neurological alterations, and no other somatic issues are equally associated, says lead investigator Sven Blte, director of the Center of Neurodevelopmental Disorders at the Karolinska Institutet in Stockholm, Sweden. The findings also support the idea that autism is a condition of the brain, Blte says, and not of the immune system or the gut.

Understanding associations such as these can help clinicians look out for autistic peoples health problems. That is particularly important when treating people who may have difficulties communicating, says Thomas Challman, medical director of the Geisinger Autism and Developmental Medicine Institute in Lewisburg, Pennsylvania.

Associated health issues can be really important in maximizing peoples quality of life, Challman says. If there is a higher rate of various other medical conditions in individuals with a developmental condition, we want to have a higher level of alertness in detecting these things.

The researchers surveyed 172 pairs of twins both identical and fraternal enrolled in the Roots of Autism and ADHD Twin Study Sweden. Of this group, 75 pairs have at least one twin with autism; 18 pairs of identical twins have only one twin with autism. Because identical twins who grow up together share a nearly identical genetic background and environment, they are particularly helpful in teasing out how these factors can shape an individuals health.

The researchers gave the participants, who ranged in age from 8 to 31 years, diagnostic exams and the Social Responsiveness Scale, Second Edition, a standard survey of autism traits. The participants or their parents then filled out a questionnaire that asked about the participants history of infectious and cardiovascular diseases, neurological problems such as epilepsy and headaches, gastrointestinal problems such as lactose intolerance, and immunological conditions such as asthma and allergies.

The researchers found that people with an autism diagnosis have more neurological and immunological health problems than those without the diagnosis. They also found that within identical twin pairs in which only one twin has autism, the twin with more neurological problems is more likely to be autistic than the neurotypical twin is.

In their analysis, the researchers weighted common problems such as headaches as equal to rarer problems such as heart defects. This approach may have affected the results, so the team should confirm the finding in a larger sample size, says Lior Brimberg, who was not involved in the research. Brimberg is assistant professor of neuroimmunology at the Feinstein Institute for Medical Research in Manhasset, New York.

The researchers also did not control for age or gender.

The fact that the study did not find an association between autism and gastrointestinal problems is surprising, notes Barbara McElhanon, assistant professor of pediatric gastroenterology at Emory University in Atlanta, Georgia, and a clinician at Childrens Healthcare of Atlanta.

The study may have missed this association because gastrointestinal problems, such as constipation, tend to be transient, she says, and may be more easily forgotten when responding to questionnaires than are persistent conditions such as epilepsy. Only 1.2 percent of the participants with autism and 0.8 percent of those without autism reported experiencing constipation both at the low end of prevalence estimates in the general public, which range from 0.7 to nearly 30 percent.

The study is also important in evaluating how much of autism and its traits are heritable versus environmental, Brimberg says.

Because identical twins share nearly all of their DNA, the association between autism and neurological problems in identical twins suggests that something beyond genetics, such as an interaction between genes and the environment, is at play in the origin of both conditions, Brimberg says.

Theyre almost sharing the same environment, theyre almost sharing the same genetics, and you still dont see 100 percent penetration of [autism], Brimberg says.

Brimberg notes that a study in July concluded that autism is 80 percent heritable2. I think this study suggests that, you know, not necessarily, she says.

The researchers hope to analyze a larger database, such as the Child and Adolescent Twin Study in Sweden, which has more than 32,000 participants. Ultimately, they say, they hope their work will help scientists identify autism subtypes and pathways that underlie the condition.

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Autistic people have increased incidence of neurological problems - Spectrum

SALT LAKE CITY, Jan. 22, 2020 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, announced that it has submitted a supplementary premarket approval (sPMA) application to the U.S. Food and Drug Administration (FDA) for its myChoice CDx test to help predict outcomes of women with first-line platinum responsive advanced ovarian cancer treated with GSKs PARP inhibitor Zejula (niraparib). Myriads filing is based on the positive results from the Phase 3 PRIMA trial of Zejula that was published online in the New England Journal of Medicine in September 2019.

The myChoice CDx test provides valuable molecular insights into tumors and helps identify women with ovarian cancer who are most likely to benefit from PARP inhibitors, said Nicole Lambert, president, Myriad Oncology. This regulatory submission represents another important step forward for precision medicine and ensuring that women have access to the most advanced therapies.

Myriad's myChoice CDx is the most comprehensive homologous recombination deficiency test, enabling physicians to identify patients with tumors that have lost the ability to repair double-stranded DNA breaks, resulting in increased susceptibility to DNA-damaging drugs such as platinum drugs or PARP inhibitors. The myChoice CDx test comprises tumor sequencing of the BRCA1 and BRCA2 genes and a composite of three proprietary technologies (loss of heterozygosity, telomeric allelic imbalance and large-scale state transitions).

About Ovarian CancerOvarian cancer affects approximately 22,000 women per year in the United States according to the American Cancer Society. Typically, ovarian cancer is diagnosed at later stages when it has metastasised to other areas of the body and only 20 percent of patients are diagnosed with early stage disease. Ovarian cancer is one of the deadliest cancers with approximately 14,000 deaths per year attributed to the disease. Patients with certain characteristics such as a family history of the disease, certain genetic mutations such as those in the BRCA1 and BRCA2 genes, obesity and endometriosis face a higher risk from ovarian cancer.

About Myriad GeneticsMyriad Genetics Inc. is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, Foresight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

GSK is commercializing ZEJULA. ZEJULA is a registered trademark of GSK.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to women getting access to the most advanced therapies; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

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Myriad Submits sPMA for myChoice CDx with Zejula in First-Line Platinum Responsive Advanced Ovarian Cancer - GlobeNewswire

January 23, 2020 - A Croatian group of scientists from the St. Catherine Special Hospital participated in the publication of yet another remarkable scientific paper, this time explaining the concept of pharmacogenomics testing based on the principles of artificial intelligence.

"Pharmacogenomics" is one of the world's leading scientific publications in the field of pharmacogenomics (PGx) and their latest issue included an article titled "Pharmacogenomics at the center of precision medicine: challenges and perspective in an era of Big Data".

The authors are a group of the Croatian and American scientists, led by Professor Dragan Primorac, who propose the model of the systematic introduction of PGx testing into clinical practice. Along with that, they propose the implementation of the concept into the health systems of various countries, using Artificial Intelligence (AI) models, as well as some sub-systems within the AI framework, such as so-called Machine Learning.

Through the specific algorithms analysing the data, the patients' data is compared with all the data already deposited in large databases (using the Big Data approach), with the goal of optimising diagnostic procedures, the prevention of disease on time, and personalised treatment. Unlike the typical model of machine learning where the algorithms are defined by certain parameters based on expert knowledge, the concept of AI primarily uses the neural networks, continually evaluating a large amount of data and processing it in a similar manner to human thinking.

Pharmacogenomics analyses a whole series of genes, or even the entire genome, and then studies the connections between the genetic predisposition of an individual and their reaction to a drug. It helps understand why some people respond to some medicines while others don't, why some people need to have the doses of their medicines adjusted to get the perfect therapeutic response, and it can even warn you if a patient won't respond to therapy at all or even when someone will experience toxic side effects.

The model proposed in the paper is based on the experiences by the St. Catherine Hospital and the PGx testing it has been performing in cooperation with OneOme American company (a spin-off company of the famous Minnesotan Mayo Clinic).

The testing uses the RightMed system and analyses 25 genes at the same time (CYP1A2, CYP2B6, CYP2C9, CYP2C19, the CYP2C cluster, CYP2D6, CYP3A4, CYP3A5, CYP4F2, COMT, DPYD, DRD2, GRIK4, HLA-A, HLA-B, HTR2A, HTR2C, IFNL4, NUDT15, OPRM1, SLC6A4, SLCO1B1, TPMT, UGT1A1, VKORC1), which are responsible for the synthesis of the enzymes important for the drug's metabolism (especially the genes of the enzymatic system of cytochrome P450), transport proteins, receptors, other proteins important for the functioning of drugs, as well as those from the HLA system, which is important for the reactions of oversensitivity to medicines.

The system allows for the prediction of the response of each patient for over 300 of the most frequently used medicines, and so the patients are given the possibility to find the one which will help them best. All of the algorithms used in the system related to the use of the genetic information and the selection of the drug and its dosage are following the Clinical Pharmacogenetics Implementation Consortium(CPIC) guidelines.

The algorithm of the analysis of genes responsible for the drug metabolism of each patient will sort them into five categories of metabolizers: slow, intermediary, normal, fast or very fast. The paper also includes a very detailed SWOT (Strength, Weakness, Opportunity, Threat) analysis of the proposed strategy, which can lead to a significant new step in the development of modern medical sciences.

The importance of the introduction of PGx methods into routine clinical practice is best confirmed by the information recently published in the leading American medical sciences journal, JAMA, in which it was said that in the US, more than 2 million hospitalized patients have serious side-effects from the drugs they were given annually, and over 100.000 of them die. Some estimate that the number is even higher today. Today, side-effects from drugs constitute the fourth cause of mortality in all populations. In the US, the health system spends 136 billion dollars a year to mitigate the damage done by the side-effects of drugs. European data shows that between 7 and 13 percent of patients get admitted into hospitals because of the side-effects of drugs, and 30 to 50 percent of patients do not respond to therapy at all.

Professor Dragan Primorac said that the "right therapy for the right patient at the right time" is the key phrase of personalized medicine, however that can't be achieved without an insight into the molecular status of the patient.

Our goal is to reduce the morbidity caused by the side-effects of drugs to the lowest possible level, as well as to integrate pharmacogenomics through the concept of AI with all the other diagnostic procedures into an integrated system which will lead to the optimisation of diagnostic and therapeutical procedures.

The proposed concept of the integration of PGx methods into clinical practice, developed by the scientists from the St. Catherine Special Hospital and the OneOme company, has attracted huge interest on the world's health market, and the first implementation of the model outside of Croatia is soon to start in German health institutions.

More here:
St. Catherine Hospital Scientists on Pharmacogenomics and Artificial Intelligence - Total Croatia News

Image: The ICR's Dr Valeria Cazzaniga in the lab

With the turn of a new decade many people are looking at the best things that came out of the last 10 years, from films, music and gadgets to the most innovative medical advances. But amongst all the retrospection, others are choosing to look ahead.

Recently, I attended the launch of a new reportpublished by University College London(UCL) aiming to set the agenda for cancer research and care in the 2020s. The report argues that over the next few years, our ability to better control cancer will not be the result of one or two major breakthroughs, but the accumulation of incremental advances in many different areas.

One reference I loved from the report was how the worldwide pursuit of better cancer treatments is arguably the biggest scientific project in history, dwarfing even the US moon landings of the 70s, and its true I can't fit all of the really exciting things coming for cancer over the next 10 years into one blog post!

Instead, Ive picked three topics mentioned in the report that have the potential to be instrumental for better cancer control in the next decade, and what the ICR is already doing to help.

Alongside its report, UCL surveyed more than 2,000 people about their attitudes towards cancer research and treatment in 2019. Perhaps not surprisingly, given that one in two of us will be diagnosed with the disease in our lifetime, half of the British population believe that tackling cancer is their biggest public health priority.

But, will there ever be a cure for cancer? This question gets asked of our researchers often, and was addressed in a recent blog postby our CEO, Professor Paul Workman. Cancer is a disease made up of more than 200 main types, and a plethora of other molecular subtypes, so its unlikely we will ever have a single cure.

During the report launch, Professor Charles Swanton of the UCL Cancer Institute spoke of the success of the past 20 years in understanding more about the complexity, diversity and instability of cancers and how they evolve to develop drug resistance.

Cancer evolution is the cause of a vast majority of cancer deaths, and at The Institute of Cancer Research, it will be a central area of focus over the next decade.

While we share the goal of patients and the public in wanting cancer to be completely cured, focusing exclusively on curing cancer can risk overlooking some of the amazing progress that has already been made in the field with statistics showing that the average length of survival from cancer approximately doubled over a 10-year period as new targeted drugs, combination treatments and immunotherapies begin to improve long-term control.

As we begin the new decade, the ICR is launching the worlds first Darwinian drug discovery programme, within our new Centre for Cancer Drug Discovery, aimed at achieving further dramatic improvements in the proportion of patients whose disease can be controlled long term, as well as increasing the chances that patients will be cured.

We are building a new state-of-the-art drug discovery centre to develop a new generation of drugs that will make the difference to the lives of millions of people with cancer. Find out more about the Centre and about how you can help us finish it.

The Centre for Cancer Drug Discovery

At the ICR, our scientists are changing the way we think about cancer. We are combining advanced DNA sequencing and image analysis with evolutionary theory, mathematical modelling and artificial intelligence to understand and predict how cancers mutate and adapt to resist treatment.

The aim is to stay one step ahead of cancer, by creating new treatment strategies that anticipate, prevent and overcome evolution and drug resistance.

Advances in the technology to read peoples DNA have made it possible to sequence a patients whole genome or that of their tumour quickly and cheaply. That can allow researchers to predict how cancer will respond to treatment and to select the drug that is most appropriate for a patient and their tumour.

It is also increasingly possible to assess a persons risk of cancer by looking at their genetic information. These scientific advances are matched by a public appetite for genetics, which has seen enthusiastic participation in pilot studies and rather more controversially increased interest in direct-to-consumer genetic tests.

The Government have responded to increased knowledge of and interest in genetics with the imminent rollout of the NHS Genomic Medicine Service, which will embed genetic testing into primary care for the first time in the UK. The service will allow healthcare professionals to personalise treatments and interventions more than ever before.

The data gathered from this extensive testing will also be available for research once it has been anonymised so scientists can better understand cancer and its evolution. Its safe to say the Genomic Medicine Service is promising big things, and the NHS aims to embed genetic testing into routine healthcare by 2025 so watch this space!

One innovative way researchers at the ICR are using genetics to tailor cancer treatment is by looking at circulating tumour DNA DNA that has shed from tumours and circulates in the blood stream of a patient.

Circulating tumour DNA can be identified through a blood test, which is less painful than standard tissue biopsies and can often be a quicker and easier way to investigate tumour development in a patient and monitor treatment success. Results have been extremely promising.

One example is the plasmaMATCH clinical trial early results of which were released in December. In that study, ICR researchers looked at whether a blood test could detect traces of genetic faults that are known to drive breast cancer.

The study was so successful, scientists believe it is reliable enough to be routinely used by doctors in the clinic once it has passed regulatory approval.

As we learn more about cancers genetics and evolution, we start to understand the reasons for something that has been known for a long time that the more a cancer has progressed, the harder it is to treat. And that in turn is placing an increased emphasis on research to understand how cancer can be detected earlier or even prevented in the first place.

One way cancer can be detected earlier is by setting up dedicated screening programmes such as those that exist for breast cancer, bowel cancer and cervical cancer. The report from UCL called for enhanced screening programmes to improve early detection of lung cancer, but screening also has the potential to benefit many more cancer types in the future.

While screening programmes are estimated to save 10,000 lives a year in the UK through prevention and early diagnosis, there is also evidence that they are not reaching their full potential.

People live busy lives, and uptake of screening appointments is not as high as the Government would like. To address this, ministers asked Professor Sir Mike Richards, a former national cancer director, to review adult screening programmes in England.

One of the reviews key recommendations called for a new organisation to be set up that is able to manage all cancer screening under one roof. This could avoid unnecessary delays where multiple organisations are managing different aspects of the screening pathway, and might ensure accountability when things dont run smoothly.

Sir Mike also highlighted the value of targeted screening in his review. Targeted cancer screening programmes aim to identify people in the population who may have a higher risk of developing certain cancers based on factors such as genetics, lifestyle and environment. This information allows healthcare professionals to tailor screening programmes for smaller groups of people.

One example of this is with PSA testing in men which, while not proven useful in the general population, has been shown to be more effective in a smaller population of men those with a fault in their BRCA2 gene.

This research, from the IMPACT study, was conducted by researchers at the ICR. Regular screening using this test in men who have this particular gene fault could help identify those at risk of prostate cancer far sooner than current methods of diagnosis.

Targeted screening based on factors such as an individuals genetic profile will not only save the NHS money, but will avoid subjecting large numbers of people to unnecessary medical appointments.

Its an exciting time to work in the field of cancer research and treatment, and it seems pretty clear that the next 10 years are going to bring some revolutionary advances.

This blog post has highlighted just three areas where there are being dramatic advances I havent, for example, touched upon the great strides being made in areas such as precision radiotherapy, advanced imaging or AI.

Check back here in 2030, when Ill be doing a round-up of the best advances in cancer research from the last decade

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Science Talk - What's coming for cancer in the 2020s - The Institute of Cancer Research

Apex Market Research provides market research reports from more than four years. Here we have issued the research report on Global CRISPR And CRISPR-Associated Genes Market Market. The report shows the all leading market players profiles. The report represents the full market analysis of the CRISPR And CRISPR-Associated Genes market with SWOT analysis, fiscal status, present development, acquisitions, and mergers. The CRISPR And CRISPR-Associated Genes market report represents the major challenges and newer opportunities. In-depth the newer growth tactics influenced by the industry manufactures the shows the international competitive scale of this market sector. The report gives the closer views to the global vendors to understand the CRISPR And CRISPR-Associated Genes market trends and meanwhile, generate important tactical actions to boost their business. The report investigates industry growth and risk factors as well as keep updates regarding development task happening in the globe market.

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Thermo Fisher ScientificEditas MedicineCaribou BiosciencesCRISPR therapeuticsIntellia therapeutics, Inc.CellectisHorizon Discovery PlcSigma AldrichPrecision BiosciencesGenscriptSangamo Biosciences Inc.Lonza Group LimitedIntegrated DNA TechnologiesNew England BiolabsOrigene Technologies

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Genome EditingGenetic engineeringGRNA Database/Gene LibrarCRISPR PlasmidHuman Stem CellsGenetically Modified Organisms/CropsCell Line Engineering

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Biotechnology CompaniesPharmaceutical CompaniesAcademic InstitutesResearch and Development Institutes

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To redeem complete information to entrepreneurs about future products and technologies to be introduced in the market.To deliver access to unique information about top players of the Automotive Tyre market.The report focuses on feature about long-term and short-term strategies adopted by major players of the market along with their key developments.The report provides a country-wise analysis of the market helps to understand the market more precisely.To offer demand and growth trends of the market and segregation into segments.

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Global CRISPR And CRISPR-Associated Genes Market Insights 2019 Thermo Fisher Scientific, Editas Medicine, Caribou Biosciences, CRISPR therapeutics,...

USP18 deficiency is a rare genetic disorder that affects inflammation. It occurs in fewer than 1 in 1 million births.

A child with a rare genetic disorder called USP18 would normally be expected to survive for no more than a few weeks.

But thanks to the collaborative efforts of physicians and researchers in Saudi Arabia, France, and the United States, a young boy with this disease is now 3 years old and in remission.

USP18 deficiency is a rare genetic disorder that affects inflammation. It occurs in fewer than 1 in 1 million births.

In a report published earlier this week in The New England Journal of Medicine, members of this international team describe how they used supportive clinical care, rapid genetic diagnosis, and prompt treatment with a novel anti-inflammatory drug to keep the boy alive.

Such collaborative efforts are very important for managing rare disorders like USP18 deficiency, Dusan Bogunovic, PhD, co-corresponding author of the case report and an associate professor of microbiology and pediatrics at the Icahn School of Medicine at Mount Sinai in New York, told Healthline.

I dont think this can be stressed enough, he said.

Rare diseases by definition cannot be managed alone. Each requires expertise that very few people on the planet have, he continued.

Researchers in Bogunovics lab first described USP18 deficiency in 2016 as part of their work on rare inflammatory diseases in children.

They identified a very rare genetic mutation of the ubiquitin-specific peptidase 18 gene, which plays a role in regulating inflammation.

Mutations in this gene cause out of control inflammation that usually proves to be fatal in utero or shortly after birth.

Babies [with USP18 deficiency] present with what appears to be an infection but dont respond to antibiotics or antivirals, Bogunovic explained.

They have problems breathing. They have accumulation of fluid in the brain. They look like they are severely inflamed, he continued.

The boy in Saudi Arabia developed these problems in the first weeks of his life. He didnt recover after antibiotic and antiviral treatments.

After keeping him alive for months with supportive clinical care, physicians at King Saud University reached out to Bogunovic for help.

This was the start of a fruitful collaboration, in which experts across multiple institutions and countries worked together to rapidly develop a diagnosis and treatment plan.

To unravel the mystery of the boys symptoms, scientists conducted rapid genetic sequencing and protein testing.

These tests allowed the scientists to quickly identify a mutation in the USP18 gene that was interfering with protein function in the boys body.

Armed with this knowledge, they decided to try treatment with ruxolitinib. This oral drug belongs to a class of medications known as JAK inhibitors, which have potent anti-inflammatory effects.

After some trial and error, the boys treatment team found an effective dosage of the drug. Within 2 weeks, his symptoms began to quickly improve. Now, after 2 years of treatment, he remains symptom-free.

We showed that even with a disease like USP18 deficiency, sound clinical care and timely drug administration can rescue patients from what was previously considered a death sentence, Bogunovic said in a press release.

The teamwork between our two institutions and others around the world is a textbook case of science without borders, he added.

This case highlights the role that rapid genetic diagnosis can play in the management of not just USP18 deficiency, but also in the management of other rare genetic diseases.

To find the mutation that was responsible for the boys symptoms in Saudi Arabia, Bogunovics team used a next-generation method of genetic analysis known as whole exome sequencing.

Exome sequencing is a cost-effective DNA sequencing strategy that focuses on detecting genetic variants in the most critical regions of the human genome, the regions that contain genes and code for proteins, Stephen Montgomery, PhD, an associate professor of pathology and genetics at Stanford University, told Healthline.

This method relies on new technologies that allow scientists to rapidly sequence all of the bits of DNA that provide instructions for producing proteins. Those particular segments of DNA are known as exons. Together, they comprise a persons exome.

If a doctor or researcher wants to quickly sequence an individuals entire genome rather than just the exome, they can use a method known as whole genome sequencing.

Together these methods of rapid testing have revolutionized the diagnosis and management of rare genetic diseases.

Compared to more traditional methods of genetic sequencing, whole exome sequencing and whole genome sequencing are much less time consuming.

And although these tests arent cheap, they tend to be less expensive than the battery of specialist appointments and lab tests that patients might otherwise need to get to the bottom of a mysterious illness.

The way it used to work was, youd go see a specialist and they would order a test, and youd go see another specialist, and they would order a test and since there are over 10,000 genetic diseases, you can imagine that thats a lot of office visits, Dr. Stephen Kingsmore, president and CEO of Rady Childrens Institute for Genomic Medicine at Rady Childrens Hospital in San Diego, California, told Healthline.

Instead of that long diagnostic odyssey, doctors can now order a single sequencing test to check for every known genetic disease.

Instead of taking years to find out the rare genetic cause of a childs condition, you can now decode their genome in a day, Kingsmore said.

Make an immediate diagnosis, nip the disease in the bud, and get the appropriate treatment on board immediately, he said.

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How Doctors from Across the Globe Saved an Infant with Months to Live - Healthline

A rare, fatal genetic disease is treated with an existing immunotherapeutic drug.

Chest radiography after two months of ruxolitinib therapy showed sufficient improvement for weaning off of mechanical ventilation.The New England Journal of Medicine 2020 A three-year-old Saudi boy is in full remission from a fatal gene deficiency following treatment with a known immunotherapeutic drug. USP18 deficiency is an extremely rare genetic disorder that impairs the immune system, with prominent symptoms including respiratory failure, accumulation of fluid in the brain, and inflammation throughout the body.

We are in the renaissance period when it comes to rapid genetic diagnosis and experimental treatment of inherited disorders, says associate professor of paediatrics Dusan Bogunovic of the Icahn School of Medicine at Mount Sinai, New York. Now we know that USP18 deficiency is treatable with JAK inhibitors, if detected early.

In healthy individuals, the USP18 (ubiquitin-specific peptidase 18) gene codes for an enzyme that inhibits a part of the immune system called interferon signalling, curbing excessive inflammation. USP18 enzyme deficiency leads to abnormal inflammation across multiple tissues. The Saudi child was diagnosed with complete absence of USP18, and had been kept alive through extraordinary medical care by physicians in Saudi Arabia. Genetic and biochemical tests confirmed that oral administration of ruxolitinib, a Janus kinase (JAK) inhibitor drug used for treating certain bone marrow disorders, would be suitable for regulating the childs inflammation.

Within two months of ruxolitinib therapy, the boy was well enough to be weaned off of mechanical ventilation and is now, two years into therapy, in full remission of the clinical signs of the disorder. He is receiving follow-up treatment from an outpatient clinic and continues to grow normally, albeit with slower progress in his developmental milestones, the researchers say. The child will likely need to take ruxolitinib for the rest of his life.

Consultant paediatrician Abdullah Alangari at King Saud University, Saudi Arabia, says the study is a very good example of the value of international collaboration in helping critically ill patients and in advancing science.

Rare diseases cannot be managed alone, adds Bogunovic. Each requires expertise that very few people on the planet have, he says, commending the joint work by researchers in Saudi Arabia, France and the USA.

The clinical case study represents a significant milestone, says immunologist John Teijaro of Scripps Research Institute, USA, who was not involved in the study. This success should pave the way for utilizing ruxolitinib and other JAK inhibitors to treat additional autoimmune diseases where heightened interferon or cytokine signalling drive pathological manifestations.

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Research focuses on precisely how the disease develops in the brain

Anne Fagan, PhD, supervises staff scientist Matthew R. Amos as he analyzes samples for molecular signs of Alzheimer's disease. Fagan leads one arm of a long-running, international Alzheimers study aimed at understanding how the disease develops and progresses. Researchers at Washington University School of Medicine in St. Louis have received $29 million to continue the study known as the Dominantly Inherited Alzheimer Network for another five years.

For more than a decade, Washington University School of Medicine in St. Louis has led an international effort to better understand Alzheimers disease by studying people with rare genetic mutations that cause the disease to develop in their 50s, 40s or even 30s. The researchers have shown that the disease begins developing two decades or more before peoples memories begin to fade, as damaging proteins silently accumulate in the brain.

Now, the National Institute on Aging of the National Institutes of Health (NIH) has committed $29 million to support the effort known as the Dominantly Inherited Alzheimer Network (DIAN) for another five years, pending availability of funds. With the new funding, the network will add three new research initiatives to investigate more closely the changes that occur in the brain as the disease develops, which could lead to new ways to diagnose or treat Alzheimers.

The extraordinary accomplishments of the DIAN investigators and participants over the past decade have set the stage to understand the molecular changes that can cause Alzheimers disease, said DIAN director Randall J. Bateman, MD, the Charles F. and Joanne Knight Distinguished Professor of Neurology. The three new scientific projects will provide deep insights into how Alzheimers disease begins and progresses to dementia.

DIAN follows families with genetic mutations that all but guarantee that those who inherit the mutations will develop Alzheimers disease at young ages. While devastating for families, this genetic form of Alzheimers disease creates a rare opportunity for researchers to look for brain changes long before symptoms appear in people who carry such mutations, compared with their relatives who dont have the mutation.

Although the study follows only people with a rare genetic form of Alzheimers, its findings could apply to the millions of people living with the much more common late-onset Alzheimers, which appears after age 65. The brain changes that lead to memory loss and confusion are thought to be much the same in early- and late-onset Alzheimers.

Since the network was established in 2008, DIAN researchers have established 19 sites in eight countries representing North and South America, Europe, Asia and Australia with another five sites in four Latin American countries in the works. People from families with genetic forms of Alzheimers take part in observational studies to track changes to their brains over time. The network also has established a clinical trials unit to test investigational therapies to prevent or treat the disease.

Participants undergo assessments of their memory and thinking skills, provide DNA for genetic analysis, undergo brain scans, and give blood and cerebrospinal fluid so researchers can look for molecular signs of Alzheimers disease. With the help of such participants, researchers have begun to piece together a timeline of the brain changes that culminate in cognitive decline and dementia. First, the protein amyloid beta starts forming plaques in the brain up to two decades before symptoms arise. Later, tangles of tau protein form, and the brain begins to shrink. Only then do signs of confusion and forgetfulness appear.

In addition to supporting ongoing research efforts, the grant funds three new projects:

The study described in this press release is supported by the National Institute on Aging of the National Institutes of Health (NIH) under award number U19AG032438. The grant from the National Institute on Aging provides 95.4% of the funding for this study, with the remainder provided by the Alzheimers Association (3.3%) and a consortium of pharmaceutical companies (1.3%). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, ranking among the top 10 medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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$29 million for new phase of international Alzheimer's study Washington University School of Medicine in St. Louis - Washington University School of...

NUTLEY, N.J., Jan. 17, 2020 /PRNewswire/ --Genomic medicine's groundbreaking treatments, and its future promise, will be the focus of a full-day symposium at the Hackensack Meridian Health Center for Discovery and Innovation (CDI) on Wednesday, February 19.

This emerging discipline for tailoring active clinical care and disease prevention to individual patients will be the focus of presentations given by eight experts from medical centers in the U.S.A. and Canada.

"The Genomic Medicine Symposium convenes a diverse group of scientific experts who help serve as a vanguard for precision medicine," said David Perlin, Ph.D., chief scientific officer and vice president of the CDI. "At the Center for Discovery and Innovation, we are working to make genomics a central component of clinical care, and we are delighted to host our peers and partners from other institutions."

"The event is one-of-a-kind," said Benjamin Tycko, M.D., Ph.D., a member of the CDI working in this area, and one of the hosts. "We are bringing together great minds with the hope it will help inform our planning for genomic medicine within Hackensack Meridian Health and inspire further clinical and scientific breakthroughs."

Cancer treatments, neuropsychiatric and behavioral disorders, cardiometabolic conditions, autoimmune disease, infectious disease, and a wide array of pediatric conditions are areas where DNA-based strategies of this type are already employed, and new ones are being tested and refined continually.

The speakers come from diverse medical institutions and will talk about a variety of clinical disorders in which prevention, screening, and treatment can be informed through genomic and epigenomic data.

Among the speakers are: Daniel Auclair, Ph.D., the scientific vice president of the Multiple Myeloma Research Foundation; Joel Gelernter, M.D., Ph.D., Foundations Fund Professor of Psychiatry and Professor of Genetics and of Neuroscience and Director, Division of Human Genetics (Psychiatry) at Yale University; James Knowles, M.D., Ph.D., professor and chair of Cell Biology at SUNY Downstate Medical Center in Brooklyn; Tom Maniatis, Ph.D., the Isidore S. Edelman Professor of Biochemistry and Molecular Biophysics, director of the Columbia Precision Medicine Initiative, and the chief executive officer of the New York Genome Center; Bekim Sadikovic, Ph.D., associate professor and head of the Molecular Diagnostic Division of Pathology and Laboratory Medicine at Western University in Ontario; Helio Pedro, M.D., the section chief of the Center for Genetic and Genomic Medicine at Hackensack University Medical Center; Kevin White, Ph.D., the chief scientific officer of Chicago-based TEMPUS Genetics; and Jean-Pierre Issa, M.D., Ph.D., chief executive officer of the Coriell Research Institute.

The event is complimentary, but registration is required. It will be held from 8 a.m. to 4:30 p.m. at the auditorium of the CDI, located at 111 Ideation Way, Nutley, N.J.

The event counts for continuing medical education (CME) credits, since Hackensack University Medical Center is accredited by the Medical Society of New Jersey to provide continuing medical education for physicians.

Hackensack University Medical Center additionally designates this live activity for a maximum of 7 AMA PRA Category 1 Credit TM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

For more information, visit https://www.hackensackmeridianhealth.org/CDIsymposium.

ABOUTHACKENSACKMERIDIAN HEALTH

Hackensack Meridian Health is a leading not-for-profit health care organization that is the largest, most comprehensive and truly integrated health care network in New Jersey, offering a complete range of medical services, innovative research and life-enhancing care.

Hackensack Meridian Health comprises 17 hospitals from Bergen to Ocean counties, which includes three academic medical centers Hackensack University Medical Center in Hackensack, Jersey Shore University Medical Center in Neptune, JFK Medical Center in Edison; two children's hospitals - Joseph M. Sanzari Children's Hospital in Hackensack, K. Hovnanian Children's Hospital in Neptune; nine community hospitals Bayshore Medical Center in Holmdel, Mountainside Medical Center in Montclair, Ocean Medical Center in Brick, Palisades Medical Center in North Bergen, Pascack Valley Medical Center in Westwood, Raritan Bay Medical Center in Old Bridge, Raritan Bay Medical Center in Perth Amboy, Riverview Medical Center in Red Bank, and Southern Ocean Medical Center in Manahawkin; a behavioral health hospital Carrier Clinic in Belle Mead; and two rehabilitation hospitals - JFK Johnson Rehabilitation Institute in Edison and Shore Rehabilitation Institute in Brick.

Additionally, the network has more than 500 patient care locations throughout the state which include ambulatory care centers, surgery centers, home health services, long-term care and assisted living communities, ambulance services, lifesaving air medical transportation, fitness and wellness centers, rehabilitation centers, urgent care centers and physician practice locations. Hackensack Meridian Health has more than 34,100 team members, and 6,500 physicians and is a distinguished leader in health care philanthropy, committed to the health and well-being of the communities it serves.

The network's notable distinctions include having four hospitals among the top 10 in New Jersey by U.S. News and World Report. Other honors include consistently achieving Magnet recognition for nursing excellence from the American Nurses Credentialing Center and being named to Becker's Healthcare's "150 Top Places to Work in Healthcare/2019" list.

The Hackensack Meridian School of Medicine at Seton Hall University, the first private medical school in New Jersey in more than 50 years, welcomed its first class of students in 2018 to its On3 campus in Nutley and Clifton. Additionally, the network partnered with Memorial Sloan Kettering Cancer Center to find more cures for cancer faster while ensuring that patients have access to the highest quality, most individualized cancer care when and where they need it.

Hackensack Meridian Health is a member of AllSpire Health Partners, an interstate consortium of leading health systems, to focus on the sharing of best practices in clinical care and achieving efficiencies.

For additional information, please visit http://www.HackensackMeridianHealth.org.

About the Center for Discovery and Innovation:

The Center for Discovery and Innovation, a newly established member of Hackensack Meridian Health, seeks to translate current innovations in science to improve clinical outcomes for patients with cancer, infectious diseases and other life-threatening and disabling conditions. The CDI, housed in a fully renovated state-of-the-art facility, offers world-class researchers a support infrastructure and culture of discovery that promotes science innovation and rapid translation to the clinic.

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Hackensack Meridian Health Center for Discovery and Innovation to Host Genomic Medicine Symposium - P&T Community

A survey of industry professionals states they expect immuno-oncology therapies and personalised medicines to continue to shape the pharmaceutical industry in the coming year.

An outlook report suggests that industry stakeholders expect immuno-oncology and personalised medicine to be the most impactful trends shaping the pharmaceutical sector in 2020.

Claire Herman, Global Director of Therapy Analysis and Epidemiology at GlobalData which compiled the research report, revealed: For the second consecutive year, our survey found that a majority of respondents believe that immuno-oncology or personalised medicine are the top trends to watch, with 40 percent and 34 percent, respectively, selecting them as the most impactful areas of investment and innovation.

Herman added: Immuno-oncology drugs have become increasingly well-established as a pillar of cancer care. This growth has been driven by regulatory approvals in a range of new indications, a slew of development and marketing partnerships and exploration of new combination treatment strategies.

a majority of respondents believe that immuno-oncology or personalised medicine are the top trends to watch

Fern Barkalow, GlobalDatas Senior Director of Oncology and Hematology, explained: As the mechanisms underlying the action of various immuno-oncology combination approaches become better elucidated, these drugs will gain further traction in the treatment paradigms of a variety of cancers in 2020, moving into earlier lines of therapy, as well as demonstrating success in those cold tumours previously resistant to immuno-oncology treatment.

A range of pipeline products entering late-stage development in the personalised medicine market during 2020 should also drive similar growth in this field. Industry experts suggest personalised medicine is set to hit milestones such as trial completion and regulatory filings.

Herman continued that there is great enthusiasm for a change in treatment strategies towards an individualised, patient-centric disease management approach. She also stated that while R&D in these areas has seen some setbacks, overall expectations are extremely high across a range of disease areas, from oncology to neurology to rare genetic disorders Investment in targeted therapeutics has been building for over a decade, with no end in sight.

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Immuno-oncology and personalised medicine to drive pharma in 2020 - European Pharmaceutical Review

Centre for Cellular and Molecular Biology has brought the researchers together from both the United States and India, to work together in order to understand genetic diseases and their basis, among some other ethnic populations from other parts of the world to work for the workshop on Human Diversity and Health Disparities. This three days workshop started this Thursday.

Researchers will be deliberating on the topics of genetic and also the epigenetic basis of the various forms of diabetes, cancer, neurological and also heart diseases in USA and in South Asia during the meet-ups. There will be also be a focused and a detailed discussions on personalized medicine and their advancements in the field of technologies to make its access possible for the nations.

Dr Keshav Singh, from the University of Alabama, Birmingham and Dr Thangaraj from CCMB, who were the Co-convenors of the meeting stated that the existing data on the genetic diseases that we have at this moment, is mostly based on the European populations and for the personalized medicine for such diseases to progress, it is important to understand these population and their specific genetics.

The workshop is currently being attended by almost 200 researchers mostly from India and US, where many of them are PhD scholars from promising universities, research institutes, hospitals and the life science companies that are based in both India and in the USA.

Rakesh Mishra, CCMB director said that the Variation in population, the differential susceptibility to genetic diseases and their response to the currently applied treatment methods is known. With the genome information that we have, we can come up with a precise and a personalized approach for not just a more effective but also an economical approach to the curing of these diseases.

The Department of Infectious Diseases at Kasturba Medical College and Hospital was introduced by Zelalem Temesgen, Director of Mayo Clinic, HIV program, U.S., here on Monday. An official statement gave here said that talking subsequent to introducing the office, Dr.

Cardiovascular diseases are very common between humans at old age. In our modern day, it is becoming even more common due to the unhealthy lifestyle and diets being used. Accordingly, it is important to treat these diseases carefully to prevent

Metabolic disorders are an important and critical diseases that should be handled wisely. These diseases are important due to the side effects they have on the body that could be dangerous. The cause of metabolic diseases are hard to know.

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CCMB to host an Indo-US workshop on the topic of genetic diseases - BPhrm Dv

The use of soybean oil has increased dramatically over the last few decades, to the extent that is has become the most widely consumed edible oil in the US and other Western nations. However, its rise has coincided with an alarming escalation in metabolic conditions like diabetes, insulin resistance, and obesity, and a new study indicates that this may be down to the way that soybean oil causes genetic changes in the brain.

Previous research has shown that mice fed a diet that is high in soybean oil are much more likely to develop these conditions than rodents fed on other fats like coconut oil. Further studies hinted that the culprit may be linoleic acid, as mice that consumed soybean oil that had been modified to lack this key ingredient were spared many of these harmful effects.

To better understand how soybean oil produces these negative consequences, scientists decided to investigate its impact on the expression of genes in the hypothalamus, a brain region that regulates metabolism and a range of other essential processes.

Mice were split into groups, of which one received a diet that was high in normal soybean oil, another consumed a diet high in soybean oil that lacked linoleic acid, and another was fed on a diet rich in coconut oil.

Writing in the journal Endocrinology, the study authors explain that soybean oil was found to modify the expression of around 100 different genes in the hypothalamus, affecting processes such as metabolism, neurological disease, and inflammation.

Among the altered genes were some that are associated with schizophrenia, depression, and Alzheimers disease, although by far the most affected was a gene that codes for the production of a hormone called oxytocin.

Oxytocin is sometimes referred to as the love hormone as it promotes social bonding and feelings of euphoria, and disruptions to its functioning have been linked to depression and autism. However, it also plays a key role in regulating body weight and glucose metabolism, and mice fed on soybean oil were therefore found to suffer from glucose intolerance, while those fed on coconut oil had no such problems.

Furthermore, the oxytocin gene was affected equally in mice that consumed regular soybean oil and the version that lacked linoleic acid, suggesting that the removal of this ingredient does not protect against the harmful effects of soybean oil.

With linoleic acid ruled out as the main driver of these harms, the researchers turned their attention to another compound found in soybean oil called stigmasterol. A further group of mice were fed a diet rich in coconut oil that had been modified to contain high quantities of stigmasterol, to see if this caused similar genetic changes within the hypothalamus.

Yet no such genetic alterations were found in the hypothalamus of these mice, indicating that stigmasterol is not to blame for the dangers of soybean oil.

Future research will now need to focus on determining which ingredient is responsible for these genetic changes, although study author Poonamjot Deol of the University of California, Riverside says that while many questions remain unanswered, some very concrete statements can be made off the back of this study.

"If there's one message I want people to take away, it's this: reduce consumption of soybean oil," she said in a statement.

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One Of The Most Common Ingredients In The Western Diet Has Been Found To Alter Genes In The Brain - IFLScience

Led by T. Rowe Funds and Viking Global Investors, the funding allowed Color to accrue a number of new partners, which now comprise Apple, Verily, Northshore University HealthSystem,the Teamsters Health and Welfare Fund of Philadelphia and Vicinity, and Sanford Health.

Color has also announced that it is now working alongside not-for-profit healthcare system Sanford Health to build on its Imagenetics genomics programme, which will, in turn, allow Sanford Health to embed genetic medicine directly into primary care, as well as to implement Colors digital tools to engage patients and streamline clinical reporting within its facilities.

Caroline Savello, Vice-President of Commercial for Color,commented: "In the last 18 months, we saw a huge acceleration with institutions around the world and across every type of player in the health ecosystem whether its hospitals or health systems, large-scale research programmes, payers, care delivery or employers who want to change the care delivery model for their population by understanding genetics across the population.

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Color raises further $75-million funding - ITIJ