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Archive for the ‘Genetic medicine’ Category

GW Pharmaceuticals submits Type II Variation Application to the European Medicines Agency (EMA) to expand the use of EPIDYOLEX, (cannabidiol) oral…

Friday, March 13th, 2020

LONDON, March 13, 2020 (GLOBE NEWSWIRE) -- GW Pharmaceuticals plc (NASDAQ:GWPH) ("GW", "the Company" or "the Group"), a world leader in discovering, developing and commercialising cannabinoid prescription medicines, today announces the submission of a Type II Variation Application to the European Medicines Agency (EMA) seeking approval of EPIDYOLEX, (cannabidiol) oral solution, for the treatment of seizures associated with Tuberous Sclerosis Complex (TSC), a rare genetic condition and a leading cause of genetic epilepsy. If approved, this will be the third licensed indication for GW's cannabidiol oral solution in Europe.

"This submission to the EMA is an important step for GW and furthers GW's mission to bring innovative cannabinoid medicines to patients with high unmet need," said Chris Tovey, GW's Chief Operating Officer. "We look forward to working with the EMA to demonstrate GW's cannabidiol oral solution's potential in this new indication and hope to make this rigorously tested cannabis-based medicine available to a new group of patients through a potential approval in due course."

TSC is a condition that causes mostly benign tumours to grow in vital organs of the body including the brain, skin, heart, eyes, kidneys and lungs, and in which epilepsy is the most common neurological feature. TSC is typically diagnosed in childhood.1

The Type II Variation Application is based on data from a positive Phase 3 safety and efficacy study. The study met its primary endpoint with patients treated with GW's cannabidiol oral solution 25 mg/kg/day experiencing a significantly greater reduction from baseline in TSC-associated seizures compared to placebo (49% vs 27%; p=0.0009). Results for the 50 mg/kg/day dose group were similar, with seizure reductions of 48% from baseline vs 26.5% for placebo (p=0.0018). All key secondary endpoints were supportive of the effects on the primary endpoint. The safety profile observed was consistent with findings from previous studies, with no new safety risks identified.

ADDITIONAL INFORMATION

About Tuberous Sclerosis Complex (TSC)Tuberous Sclerosis Complex (TSC) is a rare genetic condition that has an estimated prevalence in the EU of 10 in 100,000.2 The condition causes mostly benign tumours to grow in vital organs of the body including the brain, skin, heart, eyes, kidneys and lungs and is a leading cause of genetic epilepsy.1,3 TSC often occurs in the first year of life with patients suffering from either focal seizures or infantile spasms. It is associated with an increased risk of autism and intellectual disability.1 The severity of the condition can vary widely. In some children the disease is very mild, while others may experience life-threatening complications.4

About EPIDIOLEX/EPIDYOLEX (cannabidiol) oral solutionEPIDIOLEX/EPIDYOLEX (cannabidiol) oral solution, the first prescription, plant-derived cannabis-based medicine approved by the U.S. Food and Drug Administration (FDA) for use in the U.S. and the European Medicines Agency's (EMA) for use in Europe, is an oral solution which contains highly purified cannabidiol (CBD). EPIDYOLEX received approval in Europe in September 2019 for the treatment of seizures associated with Lennox-Gastaut syndrome (LGS) or Dravet syndrome in patients two years of age or older in conjunction with clobazam. In the U.S., EPIDIOLEX was approved in June 2018 by the FDA and is indicated for the treatment of seizures associated with LGS or Dravet syndrome in patients two years of age or older. A supplemental New Drug Application (sNDA) was submitted to the FDA in early 2020 for the treatment of seizures associated with Tuberous Sclerosis Complex (TSC). GW's cannabidiol oral solution has received Orphan Drug Designation from the FDA and the EMA for the treatment of seizures associated with Dravet syndrome, LGS and TSC, each of which are severe childhood-onset, drug-resistant syndromes.

About GW Pharmaceuticals plc Founded in 1998, GW is a biopharmaceutical company focused on discovering, developing and commercialising novel therapeutics from its proprietary cannabinoid product platform in a broad range of disease areas. The Company's lead product, EPIDIOLEX/EPIDYOLEX (cannabidiol) oral solution is commercialised in Europe by GW, and in the U.S. by the Company's subsidiary, Greenwich Biosciences. The Company has a strong pipeline of additional cannabinoid product candidates, with late-stage clinical trials in autism, schizophrenia, post-traumatic stress disorder (PTSD) and spasticity associated with multiple sclerosis (MS) and spinal cord injury. For further information, please visit http://www.gwpharm.com.

1 NIH Tuberous Sclerosis Fact Sheet. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. 2 Prevalence and incidence or rare diseases: Bibliographic data.https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf3 TS Alliance Website. https://www.tsalliance.org/. Accessed November 19, 2019.4 de Vries PJ, Belousova E, Benedik MP, et al. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. Orphanet J Rare Dis. 2018;13(1):157.5 Kwan P., Brodie M.J. Early identification of refractory epilepsy. N. Engl. J. Med. 2000;342(5):314319.6 French JA. Refractory epilepsy: clinical overview. Epilepsia. 2007;48 Suppl 1:3-7.

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Two Women Fell Sick From the Coronavirus. One Survived. – The New York Times

Friday, March 13th, 2020

The young mothers didnt tell their children they had the coronavirus. Mama was working hard, they said, to save sick people.

Instead, Deng Danjing and Xia Sisi were fighting for their lives in the same hospitals where they worked, weak from fever and gasping for breath. Within a matter of weeks, they had gone from healthy medical professionals on the front lines of the epidemic in Wuhan, China, to coronavirus patients in critical condition.

The world is still struggling to fully understand the new virus, its symptoms, spread and sources. For some, it can feel like a common cold. For others, it is a deadly infection that ravages the lungs and pushes the immune system into overdrive, destroying even healthy cells. The difference between life and death can depend on the patients health, age and access to care although not always.

The virus has infected more than 132,000 globally. The vast majority of cases have been mild, with limited symptoms. But the viruss progression can be quick, at which point the chances of survival plummet. Around 68,000 people have recovered, while nearly 5,000 have died.

The fates of Ms. Deng and Dr. Xia reflect the unpredictable nature of a virus that affects everyone differently, at times defying statistical averages and scientific research.

As the new year opened in China, the women were leading remarkably similar lives. Both were 29 years old. Both were married, each with a young child on whom she doted.

Ms. Deng, a nurse, had worked for three years at Wuhan No. 7 Hospital, in the city where she grew up and where the coronavirus pandemic began. Her mother was a nurse there, too, and in their free time they watched movies or shopped together. Ms. Dengs favorite activity was playing with her two pet kittens, Fat Tiger and Little White, the second of which she had rescued just three months before falling sick.

Before the epidemic, Ms. Deng had promised to take her 5-year-old daughter to the aquarium.

Dr. Xia, a gastroenterologist, also came from a family of medical professionals. As a young child, she had accompanied her mother, a nurse, to work. She joined the Union Jiangbei Hospital of Wuhan in 2015 and was the youngest doctor in her department. Her colleagues called her Little Sisi or Little Sweetie because she always had a smile for them. She loved Sichuan hot pot, a dish famous for its numbingly spicy broth.

Dr. Xia loved traveling with her family. She had recently visited Wuzhizhou Island, a resort destination off the southern coast of China.

When a mysterious new virus struck the city, the women began working long hours, treating a seemingly endless flood of patients. They took precautions to protect themselves. But they succumbed to the infection, the highly contagious virus burrowing deep into their lungs, causing fever and pneumonia. In the hospital, each took a turn for the worse.

One recovered. One did not.

Onset of virus & hospitalization

Ms. Deng, a Wuhan native who liked makeup and hanging out with her friends at Starbucks, had worked for eight years as a nurse, following her mothers career path. Dr. Xia, who was a favorite among elderly patients, spent long hours at the hospital helping to treat people suspected of having the virus.

The symptoms came on suddenly.

Dr. Xia had ended her night shift on Jan. 14 when she was called back to attend to a patient a 76-year-old man with suspected coronavirus. She dropped in frequently to check in on him.

Five days later, she started feeling unwell. Exhausted, she took a two-hour nap at home, then checked her temperature: It was 102 degrees. Her chest felt tight.

A few weeks later, in early February, Ms. Deng, the nurse, was preparing to eat dinner at the hospital office, when the sight of food left her nauseated. She brushed the feeling aside, figuring she was worn out by work. She had spent the beginning of the outbreak visiting the families of confirmed patients and teaching them to disinfect their homes.

After forcing down some food, Ms. Deng went home to shower, and then, feeling groggy, took a nap. When she woke up, her temperature was 100 degrees.

Fever is the most common symptom of the coronavirus, seen in nearly 90 percent of patients. About a fifth of people experience shortness of breath, often including a cough and congestion. Many also feel fatigued.

Both women rushed to see doctors. Chest scans showed damage to their lungs, a tell-tale sign of the coronavirus that is present in at least 85 percent of patients, according to one study.

In particular, Ms. Dengs CT scan showed what the doctor called ground-glass opacities on her lower right lung hazy spots that indicated fluid or inflammation around her airways.

The hospital had no space, so Ms. Deng checked into a hotel to avoid infecting her husband and 5-year-old daughter. She sweated through the night. At one point, her calf twitched. In the morning, she was admitted to the hospital. Her throat was swabbed for a genetic test, which confirmed she had the coronavirus.

Her room in a newly opened staff ward was small, with two cots and a number assigned to each one. Ms. Deng was in bed 28. Her roommate was a colleague who had also been diagnosed with the virus.

At Jiangbei Hospital, 18 miles away, Dr. Xia was struggling to breathe. She was placed in an isolation ward, treated by doctors and nurses who wore protective suits and safety goggles. The room was cold.

Day 1, hospitalization begins

After Ms. Deng was admitted to the hospital, she told her husband to take care of himself, reminding him of the 14-day incubation period for the virus. He assured her his temperature was normal. Dr. Xia asked her husband about the possibility of getting off oxygen therapy soon. He responded optimistically.

When Ms. Deng checked into the hospital, she tried to stay upbeat. She texted her husband, urging him to wear a mask even at home, and to clean all their bowls and chopsticks with boiling water or throw them out.

Her husband sent a photograph of one of their cats at home. Waiting for you to come back, he said.

I think itll take 10 days, half a month, she replied. Take care of yourself.

There is no known cure for Covid-19, the official name for the disease caused by the new coronavirus. So doctors rely on a cocktail of other medicines, mostly antiviral drugs, to alleviate the symptoms.

Ms. Dengs doctor prescribed a regimen of arbidol, an antiviral medicine used to treat the flu in Russia and China; Tamiflu, another flu medicine more popular internationally; and Kaletra, an HIV medicine thought to block the replication of the virus. Ms. Deng was taking at least 12 pills a day, as well as traditional Chinese medicine.

Arbidol, an antiviral medication, was prescribed to help alleviate Ms. Dengs symptoms.

Despite her optimism, she grew weaker. Her mother delivered home-cooked food outside the ward, but she had no appetite. To feed her, a nurse had to come at 8:30 each morning to hook her up to an intravenous drip with nutrients. Another drip pumped antibodies into her bloodstream, and still another antiviral medicine.

Dr. Xia, too, was severely ill, but appeared to be slowly fighting the infection. Her fever had subsided after a few days, and she began to breathe more easily after being attached to a ventilator.

Her spirits lifted. On Jan. 25, she told her colleagues she was recovering.

I will return to the team soon, she texted them on WeChat.

We need you the most, one of her colleagues responded.

In early February, Dr. Xia asked her husband, Wu Shilei, also a doctor, whether he thought she could get off oxygen therapy soon.

Take it easy. Dont be too anxious, he replied on WeChat. He told her that the ventilator could possibly be removed by the following week.

I keep on thinking about getting better soon, Dr. Xia responded.

There was reason to believe she was on the mend. After all, most coronavirus patients recover.

Later, Dr. Xia tested negative twice for the coronavirus. She told her mother she expected to be discharged on Feb. 8.

Day 4 to 16 after hospitalization

In the hospital, Ms. Dengs only contacts were her roommate and the medical staff. She added a caption to a photo with her doctor, saying laughter would help chase the illness away. Two tests indicated that Dr. Xia was free of the virus, but her condition suddenly deteriorated.

By Ms. Dengs fourth day in the hospital, she could no longer pretend to be cheerful. She was vomiting, having diarrhea and relentlessly shivering.

Her fever jumped to 101.3 degrees. Early in the morning on Feb. 5, she woke from a fitful sleep to find the medicine had done nothing to lower her temperature. She cried. She said she was classified as critically ill.

The next day, she threw up three times, until she was left spitting white bubbles. She felt she was hallucinating. She could not smell or taste, and her heart rate slowed to about 50 beats per minute.

On a phone call, Ms. Dengs mother tried to reassure her that she was young and otherwise healthy, and that the virus would pass like a bad cold. But Ms. Deng feared otherwise. I felt like I was walking on the edge of death, she wrote in a social media post from her hospital bed the next day.

China defines a critically ill patient as someone with respiratory failure, shock or organ failure. Around 5 percent of infected patients became critical in China, according to one of the largest studies to date of coronavirus cases. Of those, 49 percent died. (Those rates may eventually change once more cases are examined around the world.)

While Dr. Xia appeared to be recovering, she was still terrified of dying. Testing can be faulty, and negative results dont necessarily mean patients are in the clear.

She asked her mother for a promise: Could her parents look after her 2-year-old son if she didnt make it?

Hoping to dispel her anxiety with humor, her mother, Jiang Wenyan, chided her: Hes your own son. Dont you want to raise him yourself?

Dr. Xia also worried about her husband. Over video chat, she urged him to put on protective equipment at the hospital where he worked. She said she would wait for me to return safely, he said, and go to the frontline again with me when she recovered.

Then came the call. Dr. Xias condition had suddenly deteriorated. In the early hours of Feb. 7, her husband rushed to the emergency room.

Her heart had stopped.

Day 17 after hospitalization

After being discharged, Ms. Deng briefly got to see her mother, who had been working at the hospital during her illness. She then went home to isolate herself for two weeks.

In most cases, the body repairs itself. The immune system produces enough antibodies to clear the virus, and the patient recovers.

By the end of Ms. Dengs first week in the hospital, her fever had receded. She could eat the food her mother delivered. On Feb. 10, as her appetite returned, she looked up photos of meat skewers online and posted them wishfully to social media.

On Feb. 15, her throat swab came back negative for the virus. Three days later, she tested negative again. She could go home.

Ms. Deng met her mother briefly at the hospitals entrance. Then, because Wuhan remained locked down, without taxis or public transportation, she walked home alone.

I felt like a little bird, she recalled. My freedom had been returned to me.

She had to isolate at home for 14 days. Her husband and daughter stayed with her parents.

At home, she threw out her clothing, which she had been wearing for her entire time in the hospital.

Since then, she has passed the time by playing with her cats and watching television. She jokes that she is getting an early taste of retirement. She does daily deep breathing exercises to strengthen her lungs, and her cough has faded.

The Chinese government has urged recovered patients to donate plasma, which experts say contains antibodies that could be used to treat the sick. Ms. Deng contacted a local blood bank soon after getting home.

She plans to go back to work as soon as the hospital allows it.

It was the nation that saved me, she said. And I think I can pay it back to the nation.

Day 35 after hospitalization

On Dr. Xias desk at work, her colleagues left 1,000 paper cranes a Chinese symbol of hope and blessings. Written on the wings was a message: Rest in peace, we will use our lives to continue this relay race and prevail over this epidemic.

It was sometime after 3 a.m. on Feb. 7 when Dr. Xia was rushed to intensive care. Doctors first intubated her. Then, the president of the hospital frantically summoned several experts from around the city, including Dr. Peng Zhiyong, head of the department of critical care at Zhongnan Hospital.

They called every major hospital in Wuhan to borrow an extracorporeal membrane oxygenation, or Ecmo, machine to do the work of her heart and lungs.

Dr. Xias heart started beating again. But the infection in her lungs was too severe, and they failed. Her brain was starved of oxygen, causing irreversible damage. Soon, her kidneys shut down and doctors had to put her on round-the-clock dialysis.

The brain acts as the control center, Dr. Peng said. She couldnt command her other organs, so those organs would fail. It was only a matter of time.

Dr. Xia slipped into a coma. She died on Feb. 23.

Dr. Peng remains baffled about why Dr. Xia died after she had seemed to improve. Her immune system, like that of many health workers, may have been compromised by constant exposure to sickness. Perhaps she suffered from what experts call a cytokine storm, in which the immune systems reaction to a new virus engulfs the lungs with white blood cells and fluid. Perhaps she died because her organs were starved of oxygen.

Back at Dr. Xias home, her son, Jiabao which means priceless treasure still thinks his mother is working. When the phone rings, he tries to grab it from his grandmothers hands, shouting: Mama, mama.

Her husband, Dr. Wu, doesnt know what to tell Jiabao. He hasnt come to terms with her death himself. They had met in medical school and were each others first loves. They had planned to grow old together.

I loved her very much, he said. Shes gone now. I dont know what to do in the future, I can only hold on.

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Two Women Fell Sick From the Coronavirus. One Survived. - The New York Times

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Aging eyes and the immune system – Science Magazine

Friday, March 13th, 2020

A central promise of regenerative medicine is the ability to repair aged or diseased organs using stem cells (SCs). This approach will likely become an effective strategy for organ rejuvenation, holding the potential to increase human health by delaying age-related diseases (1). The successful translation of this scientific knowledge into clinical practice will require a better understanding of the basic mechanisms of aging, along with an integrated view of the process of tissue repair (1).

The advent of SC therapies, now progressing into clinical trials, has made clear the many challenges limiting the application of SCs to treat disease. Our duty, as scientists, is to anticipate such limitations and propose solutions to effectively deliver on the promise of regenerative medicine.

Degenerating tissues have difficulty engaging a regulated repair response that can support efficient cell engraftment and restoration of tissue function (2). This problem, which I encountered when trying to apply SC-based interventions to treat retinal disease, will likely be an important roadblock to the clinical application of regenerative medicine approaches in elderly patients, those most likely to benefit from such interventions. I therefore hypothesized that the inflammatory environment present in aged and diseased tissues would be a major roadblock for efficient repair and that finding immune modulators with the ability to resolve chronic inflammation and promote a prorepair environment would be an efficient approach to improve the success of SC-based therapies (2, 3).

Immune cells, as sources and targets of inflammatory signals, emerged naturally as an ideal target for intervention. I chose to focus on macrophages, which are immune cells of myeloid origin that exist in virtually every tissue of the human body and which are able to reversibly polarize into specific phenotypes, a property that is essential to coordinate tissue repair (3, 4).

If there is an integral immune modulatory component to the process of tissue repair that has evolved to support the healing of damaged tissues, then it should be possible to find strategies to harness this endogenous mechanism and improve regenerative therapies. Anchored in the idea that tissue damage responses are evolutionarily conserved (5), I started my research on this topic using the fruit fly Drosophila as a discovery system.

The fruit fly is equipped with an innate immune system, which is an important player in the process of tissue repair. Using a well-established model of tissue damage, I sought to determine which genes in immune cells are responsible for their prorepair activity. MANF (mesencephalic astrocyte-derived neurotrophic factor), a poorly characterized protein initially identified as a neurotrophic factor, emerged as a potential candidate (6). A series of genetic manipulations involving the silencing and overexpression of MANF and known interacting partners led me to the surprising discovery that, instead of behaving as a neurotrophic factor, MANF was operating as an autocrine immune modulator and that this activity was essential for its prorepair effects (2). Using a model of acute retinal damage in mice and in vitro models, I went on to show that this was an evolutionarily conserved mechanism and that MANF function could be harnessed to limit retinal damage elicited by multiple triggers, highlighting its potential for clinical application in the treatment of retinal disease (2).

Having discovered a new immune modulator that sustained endogenous tissue repair, I set out to test my initial hypothesis that this factor might be used to improve the success of SC-based therapies applied to a degenerating retina. Indeed, the low integration efficiency of replacement photoreceptors transplanted into congenitally blind mice could be fully restored to match the efficiency obtained in nondiseased mice by supplying MANF as a co-adjuvant with the transplants (2). This intervention improved restoration of visual function in treated mice, supporting the utility of this approach in the clinic (7).

Next, my colleagues and I decided to address the question of whether the immune modulatory mechanism described above was relevant for aging biology and whether we could harness its potential to extend health span. We found that MANF levels are systemically decreased in aged flies, mice, and humans. Genetic manipulation of MANF expression in flies and mice revealed that MANF is necessary to limit age-related inflammation and maintain tissue homeostasis in young organisms. Using heterochronic parabiosis, an experimental paradigm that involves the surgical joining of the circulatory systems of young and old mice, we established that MANF is one of the circulatory factors responsible for the rejuvenating effects of young blood. Finally, we showed that pharmacologic interventions involving systemic delivery of MANF protein to old mice are effective therapeutic approaches to reverse several hallmarks of tissue aging (8).

A confocal fluorescence microscope image of a giant macrophage shows MANF (mesencephalic astrocyte-derived neurotrophic factor) expression in red.

The biological process of aging is multifactorial, necessitating combined and integrated interventions that can simultaneously target several of the underlying problems (9). The potential of immune modulatory interventions as rejuvenating strategies is emerging and requires a deeper understanding of its underlying molecular and cellular mechanisms.

One expected outcome of reestablishing a regulated inflammatory response is the optimization of tissue repair capacity that naturally decreases during aging (3). Combining these interventions with SCbased therapeutics holds potential to deliver on the promise of regenerative medicine as a path to rejuvenation (1).

PHOTO: COURTESY OF J. NEVES

GRAND PRIZE WINNER

Joana Neves

Joana Neves received undergraduate degrees from NOVA University in Lisbon and a Ph.D. from the Pompeu Fabra University in Barcelona. After completing her postdoctoral fellowship at the Buck Institute for Research on Aging in California, Neves started her lab in the Instituto de Medicina Molecular (iMM) at the Faculty of Medicine, University of Lisbon in 2019. Her research uses fly and mouse models to understand the immune modulatory component of tissue repair and develop stem cellbased therapies for age-related disease.

PHOTO: COURTESY OF A. SHARMA

FINALIST

Arun Sharma

Arun Sharma received his undergraduate degree from Duke University and a Ph.D. from Stanford University. Having completed a postdoctoral fellowship at the Harvard Medical School, Sharma is now a senior research fellow jointly appointed at the Smidt Heart Institute and Board of Governors Regenerative Medicine Institute at the Cedars-Sinai Medical Center in Los Angeles. His research seeks to develop in vitro platforms for cardiovascular disease modeling and drug cardiotoxicity assessment. http://www.sciencemag.org/content/367/6483/1206.1

FINALIST

Adam C. Wilkinson

Adam C. Wilkinson received his undergraduate degree from the University of Oxford and a Ph.D. from the University of Cambridge. He is currently completing his postdoctoral fellowship at the Institute for Stem Cell Biology and Regenerative Medicine at Stanford University, where he is studying normal and malignant hematopoietic stem cell biology with the aim of identifying new biological mechanisms underlying hematological diseases and improving the diagnosis and treatment of these disorders. http://www.sciencemag.org/content/367/6483/1206.2

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Aging eyes and the immune system - Science Magazine

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More Than 50% of People Expect Compensation for Genomic Data Sharing – HealthITAnalytics.com

Friday, March 13th, 2020

March 13, 2020 -Once people are aware of the issues surrounding genomic data sharing, collection, and security, individuals are more concerned with how their information will be used and expect to receive compensation for providing it, according to a survey published in PLOS One.

As the potential for personalized therapies continues to grow and genetic testing becomes more widely available, genomics entities have to find ways to advance the field while still protecting peoples genetic data.

The use of human genomic data collections is expanding, fueled by declining technological costs and enthusiasm for the promise of precision medicine, researchers said.

Accordingly, various organizations responsible for managing enormous genomic biobanks are developing and refining their governance systemsi.e., the organizational structures and policies that shape data collection, data integrity, data end uses, transparency, stakeholder input processes, and data securityseeking to balance the benefits of broad data use with the need to mitigate risk and meet societal responsibilities.

It's essential to measure the publics expectations surrounding the collection and use of genomic data, the research team stated. Prior research in this area has focused on the context of research biobanks owned by academic institutions, the group said, and has highlighted the idea that individuals providing their data are acting as altruistic donors.

READ MORE: Data Sharing Standards Needed to Address Patients SDOH

Findings in this context suggest that most participants, within the sole context of non-profit research biobanks, are generally willing to donate their data, are comfortable with indefinite use of their data, and are reassured by moderate privacy protections, the team said.

Yet the context of previous research presents an incomplete profile of public expectations for genetic database governance. We note that governance expectations for genetic databases in the future will be informed by two developing social phenomena: growing awareness of both the commercial value of genomic data and the emerging privacy risks for individuals providing data.

Researchers set out to assess individuals willingness to contribute genomic data to both nonprofit and for-profit organizations, as well as respondents views on genomic governance policies. The team provided 2,020 survey participants with a three-minute video created from mainstream coverage of genomic databases.

The group then asked participants questions about how governance policies or the ways genomic data is used, secured, and regulated would impact respondents willingness to provide data and the compensation they expect to receive.

The results showed that just 11.7 percent of respondents were willing to provide their data as an altruistic donation, while 50.6 percent said they would be willing to provide it if compensated with a payment of some amount. Nearly 38 percent said they were unwilling to provide it even if payment was available.

READ MORE: Can Healthcare Overcome Its Past Pitfalls to Leverage Genomic Data?

The researchers noted that these results contrast with previous surveys that focused on donating genomic data to academic research biobanks, which consistently report rates of willingness above 50 percent.

When people were more informed, they were a lot more interested in requiring greater security for their data, and they were a little bit more hesitant to give it up, said Ifeoma Ajunwa, assistant professor of labor relations, law and history at Cornell University and co-author of the study.

The team also evaluated the dollar amounts that people were seeking in exchange for their data. The median reported value among individuals was $130, which mirrors the amount paid per genome in a recent commercial transaction summarized in the video shown to participants.

This finding suggests that the pre-survey video influenced perceptions and responses, reflecting what could happen as individuals encounter real-life information alerting them to the value of genetic data.

In addition to compensation, the survey asked participants how 12 specific policies would impact their willingness to provide genomic data. The three policies that made them most willing to provide it were the ability to request their data to be deleted; assurance that their data wouldnt be sold or shared; and requiring specific permissions to use the data.

READ MORE: FDA Recognizes Genomic Database to Advance Precision Medicine

The three policies that decreased willingness the most were selling database access to pharmaceutical firms; providing data to the federal government; and retaining the data indefinitely without a specified date for destruction.

These results demonstrate the importance individuals place on control when it comes to data sharing.

A common denominator across these governance policy findings is a preference for restrictions on sharing or reuse, unless permission is specifically granted by the individual, researchers said.

These preferences appear to pose a challenge for the goals and business models of many database-owning organizations, which often envision that their databases will serve multiple, not-necessarily-specified scientific and commercial purposes, through access arrangements with multiple outside partners. This tension appears to hold equally for commercial as well as public organizations.

The group concluded that based on these findings, a one-size-fits-all approach wont meet public expectations for genomic data governance. Future research will need to continually evaluate evolving attitudes about genomic databases.

People need to know the full worth of their genetic data in order to make an informed consent, Ajunwa said. How much is the data worth, what kinds of safeguarding are necessary, is it OK to have something in digital form and therefore more vulnerable? There are all of these outstanding questions to be answered.

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More Than 50% of People Expect Compensation for Genomic Data Sharing - HealthITAnalytics.com

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Research International Poor quality care and long hours may alter children’s genetic maps , researchers find Researchers – The Sector

Friday, March 13th, 2020

Researchers from the University of Exeter have found that increased levels of the stress hormone cortisol in babies and small children when separated from their parents, especially their mothers, may have a long term genetic impact on future generations.

In a commentary published by the Journal of the Royal Society of Medicine, the authors say that several studies show that small children cared for outside the home, especially in poor quality care and for 30 or more hours per week, have higher levels of cortisol than children who are cared for at home.

While cortisol release is a normal response to stress in mammals facing an emergency, sustained cortisol release over hours or days can be harmful, Professor Sir Denis Pereira Gray, Emeritus Professor of General Practice at the University of Exeter, who wrote the paper with two colleagues, said.

Raised cortisol levels are a sign of stress, something which Professor Gray said has been associated with children, particularly boys, acting aggressively. Not all children are affected, he said, but an important minority are.

Raised cortisol levels are associated with reduced antibody levels and changes in those parts of the brain which are associated with emotional stability.

Environmental factors interact with genes, so that genes can be altered, and once altered by adverse childhood experiences, can pass to future generations. Such epigenetic effects need urgent study, the authors said.

Professor Gray would like to see future researchers explore the links between the care of small children in different settings, their cortisol levels, DNA, and behaviour.

The research, and associated commentary, may be viewed here.

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Research International Poor quality care and long hours may alter children's genetic maps , researchers find Researchers - The Sector

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Why There Aren’t Enough Coronavirus Tests in the U.S. – Popular Mechanics

Friday, March 13th, 2020

Above: A researcher works in a lab that is developing testing for the COVID-19 coronavirus at Hackensack Meridian Health Center for Discovery and Innovation on February 28, 2020 in Nutley, New Jersey. (Photo by Kena Betancur/Getty Images)

There's a massive shortage of COVID-19 (Coronavirus) test kits in the U.S., as cases continue to skyrocket in places like Seattle and New York City. This is largely due to the failure of the Centers for Disease Control and Prevention (CDC) to distribute the tests in a timely fashion.

But it didn't have to be this way. Back in January and Februarywhen cases of the deadly disease began aggressively circulating outside of Chinadiagnostics already existed in places like Wuhan, where the pandemic began. Those tests followed World Health Organization (WHO) test guidelines, which the U.S. decided to eschew.

Instead, the CDC created its own in-depth diagnostics that could identify not only COVID-19, but a host of SARS-like coronaviruses. Then, disaster struck: When the CDC sent tests to labs during the first week of February, those labs discovered that while the kits did detect COVID-19, they also produced false positives when checking for other viruses. As the CDC went back to the drawing board to develop yet more tests, precious time ticked away.

"I think that we should have had testing more widely available about a month earlier," Dr. Carl Fichtenbaum, professor of clinical medicine at the University of Cincinnati's School of Medicine, tells Popular Mechanics. "That would have been more appropriate so that we could have identified people earlier on and used some of the mitigating strategies that were using now."

As the spread of Coronavirus continues to escalate in the U.S., private institutions like academic research hospitals are scrambling in a mad dash to come up with more test kits. And there is hope: The Cleveland Clinic says it has developed a diagnostic test that can deliver results in just hours, as opposed to the time it takes the existing CDC tests, which can take days.

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Testing for COVID-19 comes in two primary forms: You'll either have your throat swabbed if you're in the U.S., or perhaps have your blood drawn if you're in another country, like China. The different approaches ultimately come down to how scientists have developed the lab tests.

In the U.S., the CDC's diagnostic tool relies on polymerase chain reaction testing (PCR), which detects genetic material found in the virus's DNA. Unlike in other methods, the virus doesn't have to be alive for its presence to be detected.

"We take parts of the virus and we [test] whats called the conserved parts of the virus, parts that dont change a lot," Dr. Fichtenbaum explains. "There are always mutations. Were looking at the genetic code and we take a sequence of what we call primers, or things that will match up with that genetic code, and we put them through a series of steps where the primers will match the genetic code if [the virus] is present."

PCR testing is generally too advanced to be done at a hospital, and is more in the wheelhouse of clinical laboratory settings. There, researchers extract the sample's nucleic acidone of the four bases found in DNA sequencesto study the virus genome. They can amplify portions of that genome through a special process called reverse transcription polymerase chain reaction. That way, scientists can compare the sample to SARS-CoV-2, the virus that causes the novel coronavirus.

SARS-CoV-2 has almost 30,000 nucleotides in total, which make up its DNA. The University of Washington School of Medicine's PCR test hones in on about 100 of those that are known to be unique to the virus.

The researchers are looking for two genes in particular, and if they find both, the test is considered positive. If they only find one, the test is inconclusive. However, the CDC notes, "it is possible the virus will not be detected" in the early stages of the viral infection.

In some cases, Dr. Fichtenbaum says, it's possible to quantify the number of copies of the viral gene present. It could be one, 10, or 10 million, he says, and the higher that amount is, the more contagious you may be, or the further along you may be in the illness.

U.S. Centers for Disease Control and Prevention

As of press time, the CDC has directly examined some 3,791 specimens in Atlanta, according to data produced on Thursday afternoon, while public health laboratories across the country have tested another 7,288. Notably, some data after March 6 is still pending.

Regardless, with about 1,000 confirmed cases in the U.S., those figures suggest roughly one in 11 people tested have actually contracted the novel Coronavirus. Surely, if more tests were available, those numbers would be higher, Dr. Fichtenbaum says. Because of the CDC snafu and an initial muted reaction to the outbreak from President Trump's administration, we're about a month behind on the diagnostics front, he adds.

Piling onto other reasons, Dr. Karen C. Carrolldirector of the Division of Medical Microbiology at Johns Hopkins University School of Medicinebelieves that the test shortage is "complicated" by the fact that no one expected COVID-19 to spread so quickly in the U.S.

Not to mention, manufacturers are now low on supplies that academic labs, like hers, require to develop and distribute test kits, she tells Popular Mechanics.

During a Congressional hearing on Wednesday, Dr. Anthony Fauci, director of the National Institute of Allergy and Infectious Diseases, said the public health care system is failing to make tests available to people who may have contracted COVID-19.

"The idea of anybody getting [the test] easily the way people in other countries are doing it, we're not set up for that. Do I think we should be? Yes, but we're not," he said.

The silver lining: The CDC is now working in tandem with private labs to make more tests available. The concern then becomes how many tests these labs can actually perform each day. Experts estimate that most labs will have the capacity to complete about 100 tests per day, which just isn't good enough to contain COVID-19 at this point.

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Just because your doctor may have ordered you a COVID-19 test, that doesn't mean you'll actually receive one.

According to CDC guidelines, there are three general classes of patients who seek the diagnostic test, and it's up to the discretion of the health care systems to administer them. With limited supply, those are tough decisions. The classes are:

Testing can be quite restrictive, and people who aren't in a high risk category, or who have traveled to a country where there are cases of COVID-19but had no known exposure to the virusare turned away.

"Once we relax the standards for testing so that we can test on anyone we think appropriate, and its not as complicated, we'll be able to reduce the spread," Dr. Fichtenbaum says.

Right now in Ohio, where Dr. Fichtenbaum is based, doctors must fill out a four-page form and conduct in-depth tracing of a patient's movements before they can administer a test, he says. Not only is it time-consuming, but it may result in the patient not receiving a test at alland could have contracted the virus.

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To expedite the availability of diagnostics, the U.S. Food and Drug Administration (FDA) announced in late February that academic hospital systems had the green light to develop their own test kits.

The move allows these institutions to rely on their own internal validation upfront, rather than wait on the time-consuming FDA approvals process before using the tests. While FDA approval is still ultimately required under this policy, once the hospitals themselves have determined the tests are accurate and safe, they can begin using them.

Dr. Carroll of Johns Hopkins says that her lab went live with their own test yesterday. "Now, we have 15 days to send [the FDA] our validation package," she says. Her lab can now use the test to check for COVID-19 in patients that come to the medical center, but a few more things must also happen in tandem to satisfy the FDA's requirements.

Once a private lab sends in their validation package, which includes data collected during the test development, the FDA may call back with questions about the kit or ask for clarification. If the labs get radio silence for a while, that's normal, according to Dr. Carroll, but eventually, they must be granted what is known as an Emergency Use Authorization.

Under section 564 of the Federal Food, Drug, and Cosmetic Act, the FDA Commissioner may allow unapproved medical productslike privately developed COVID-19 teststo be used in an emergency for diagnosis, treatment or prevention when there are no better alternatives.

"I dont know how quickly they will get back to laboratories, they havent told us that," Dr. Carroll says.

Labs must also have close communication with their state health department laboratory, which is essentially the top lab in the state, she added. The FDA is requiring private institutions to send their first five negative and first five positive testing results to their state lab to ensure uniformity and effectiveness.

"A public health laboratory monitors certain communicable diseases," Dr. Carroll explains. "Some even offer testing for the community, like STDs such as Gonorrhea."

Other hospitals across the U.S. are making strides in test development, too. In Washington, where the CDC's faulty tests stymied the progress of testing, potentially aiding the community spread seen there, the University of Washington Medical Center has developed a COVID-19 test based on WHO recommendations, unlike the CDC. The hospital system has the capacity to conduct about 1,000 tests per day, and is working to ramp that up to 4,000 or 5,000 daily tests.

The Cleveland Clinic's test, meanwhile, should only take about eight hours to turn around a positive or negative result and should be ready by the end of March.

In a statement provided Thursday to Popular Mechanics, the Cleveland Clinic says it will soon have the capabilities to conduct on-site testing. "We are in the process of validating our testing capabilities and will soon send out more information."

Moving forward, Dr. Fichtenbaum expects the FDA to soon approve what's known as multiplex testing, which will allow labs to run 96 tests at once, rather than work with one specimen at a time.

"They need to approve that at each lab and theyre slow," says Dr. Fichtenbaum. But he anticipates the FDA will give the all-clear in the next few days. Then, it's just a matter of manufacturing the tests, which should happen rapidly.

In the meantime, community spread continues, despite self-quarantine measures, countless canceled events, and sweeping work-from-home policies. The number of positive cases is probably significantly higher than the data shows, says Dr. Fichtenbaum, which only worsens the contagion.

"I think that COVID-19 is probably more prevalent in our communities than we think," he says.

And the clinical microbiologists working tirelessly at the front lines in hospitals fully expect to meet demand. Dr. Heba Mostafa, assistant professor of pathology at Johns Hopkins University, tells Popular Mechanics that she expects to see testing ramp up and really meet demand over the course of the next four to eight weeks.

And Dr. Carroll says that the spirit of collaboration between academic medical centers has been refreshing. The University of Texas and the University of Washington have each helped out the Johns Hopkins effort, she says. They helped supply the genetic material necessary to complete their test's validation. Still, it's grueling.

"Our hospital is very happy that we went live yesterday, but of course now theyre interested in how many tests we can do," Carroll said with a laugh. "I sometimes feel that clinical microbiologists are the unsung heroes."

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New drugs are costly and unmet need is growing – The Economist

Friday, March 13th, 2020

Mar 12th 2020

BEING ABLE to see all the details of the genome at once necessarily makes medicine personal. It can also make it precise. Examining illness molecule by molecule allows pharmaceutical researchers to understand the pathways through which cells act according to the dictates of genes and environment, thus seeing deep into the mechanisms by which diseases cause harm, and finding new workings to target. The flip side of this deeper understanding is that precision brings complexity. This is seen most clearly in cancer. Once, cancers were identified by cell and tissue type. Now they are increasingly distinguished by their specific genotype that reveals which of the panoply of genes that can make a cell cancerous have gone wrong in this one. As drugs targeted against those different mutations have multiplied, so have the options for oncologists to combine them to fit their patients needs.

Cancer treatment has been the most obvious beneficiary of the genomic revolution but other diseases, including many in neurology, are set to benefit, too. Some scientists now think there are five different types of diabetes rather than two. There is an active debate about whether Parkinsons is one disease that varies a lot, or four. Understanding this molecular variation is vital when developing treatments. A drug that works well on one subtype of a disease might fail in a trial that includes patients with another subtype against which it does not work at all.

Thus how a doctor treats a disease depends increasingly on which version of the disease the patient has. The Personalised Medicine Coalition, a non-profit advocacy group, examines new drugs approved in America to see whether they require such insights in order to be used. In 2014, it found that so-called personalised medicines made up 21% of the drugs newly approved for use by Americas Food and Drug Administration (FDA). In 2018 the proportion was twice that.

Two of those cited were particularly interesting: Vitrakvi (larotrectinib), developed by Loxo Oncology, a biotech firm, and Onpattro (patisiran), developed by Alnylam Pharmaceuticals. Vitrakvi is the first to be approved from the start as tumour agnostic: it can be used against any cancer that displays the mutant protein it targets. Onpattro, which is used to treat peripheral-nerve damage, is the first of a new class of drugssmall interfering RNAs, or siRNAsto be approved. Like antisense oligonucleotides (ASOs), siRNAs are little stretches of nucleic acid that stop proteins from being made, though they use a different mechanism.

Again like ASOs, siRNAs allow you to target aspects of a disease that are beyond the reach of customary drugs. Until recently, drugs were either small molecules made with industrial chemistry or bigger ones made with biologynormally with genetically engineered cells. If they had any high level of specificity, it was against the actions of a particular protein, or class of proteins. Like other new techniques, including gene therapies and anti-sense drugs, siRNAs allow the problem to be tackled further upstream, before there is any protein to cause a problem.

Take the drugs that target the liver enzyme PCSK9. This has a role in maintaining levels of bad cholesterol in the blood; it is the protein that was discovered through studies of families in which congenitally high cholesterol levels led to lots of heart attacks. The first generation of such drugs were antibodies that stuck to the enzyme and stopped it working. However, the Medicines Company, a biotech firm recently acquired by Novartis, won approval last year for an siRNA called inclisiran that interferes with the expression of the gene PCSK9thus stopping the pesky protein from being made in the first place. Inclisiran needs to be injected only twice a year, rather than once a month, as antibodies do.

New biological insights, new ways of analysing patients and their disease and new forms of drug are thus opening up a wide range of therapeutic possibilities. Unfortunately, that does not equate to a range of new profitable opportunities.

Thanks in part to ever better diagnosis, there are now 7,000 conditions recognised as rare diseases in America, meaning that the number of potential patients is less than 200,000. More than 90% of these diseases have no approved treatment. These are the diseases that personalised, precision medicine most often goes after. Nearly 60% of the personalised medicines approved by the FDA in 2018 were for rare diseases.

Zolgensma is the most expensive drug ever brought to market.

That might be fine, were the number of diseases stable. But precision in diagnosis is increasingly turning what used to be single diseases into sets of similar-looking ones brought about by distinctly different mechanisms, and thus needing different treatment. And new diseases are still being discovered. Medical progress could, in short, produce more new diseases than new drugs, increasing unmet need.

Some of it will, eventually, be met. For one thing, there are government incentives in America and Europe for the development of drugs for rare diseases. And, especially in America, drugs for rare diseases have long been able to command premium prices. Were this not the case, Novartis would not have paid $8.7bn last year to buy AveXis, a small biotech firm, thereby acquiring Zolgensma, a gene therapy for spinal muscular atrophy (SMA). Most people with SMA lack a working copy of a gene, SMN1, which the nerve cells that control the bodys muscles need to survive. Zolgensma uses an empty virus-like particle that recognises nerve cells to deliver working copies of the gene to where it is needed. Priced at $2.1m per patient, it is the most expensive drug ever brought to market. That dubious accolade might not last long. BioMarin, another biotech firm, is considering charging as much as $3m for a forthcoming gene therapy for haemophilia.

Drug firms say such treatments are economically worthwhile over the lifetime of the patient. Four-fifths of children with the worst form of SMA die before they are four. If, as is hoped, Zolgensma is a lasting cure, then its high cost should be set against a half-century or more of life. About 200 patients had been treated in America by the end of 2019.

But if some treatments for rare diseases may turn a profit, not all will. There are some 6,000 children with SMA in America. There are fewer than ten with Jansens disease. When Dr Nizar asked companies to help develop a treatment for it, she says she was told your disease is not impactful. She wrote down the negative responses to motivate herself: Every day I need to remind myself that this is bullshit.

A world in which markets shrink, drug development gets costlier and new unmet needs are ceaselessly discovered is a long way from the utopian future envisaged by the governments and charities that paid for the sequencing of all those genomes and the establishment of the worlds biobanks. As Peter Bach, director of the Centre for Health Policy and Outcomes, an academic centre in New York, puts it with a degree of understatement: if the world needs to spend as much to develop a drug for 2,000 people as it used to spend developing one for 100,000, the population-level returns from medical research are sharply diminishing.

And it is not as if the costs of drug development have been constant. They have gone up. What Jack Scannell, a consultant and former pharmaceutical analyst at UBS, a bank, has dubbed Erooms lawEroom being Moore, backwardsshows the number of drugs developed for a given amount of R&D spending has fallen inexorably, even as the amount of biological research skyrocketed. Each generation assumes that advances in science will make drugs easier to discover; each generation duly advances science; each generation learns it was wrong.

For evidence, look at the way the arrival of genomics in the 1990s lowered productivity in drug discovery. A paper in Nature Reviews Drug Discovery by Sarah Duggers from Columbia University and colleagues argues that it brought a wealth of new leads that were difficult to prioritise. Spending rose to accommodate this boom; attrition rates for drugs in development subsequently rose because the candidates were not, in general, all that good.

Today, enthused by their big-science experience with the genome and enabled by new tools, biomedical researchers are working on exhaustive studies of all sorts of other omes, including proteomesall the proteins in a cell or body; microbiomesthe non-pathogenic bacteria living in the mouth, gut, skin and such; metabolomessnapshots of all the small molecules being built up and broken down in the body; and connectomes, which list all the links in a nervous system. The patterns they find will doubtless produce new discoveries. But they will not necessarily, in the short term, produce the sort of clear mechanistic understanding which helps create great new drugs. As Dr Scannell puts it: We have treated the diseases with good experimental models. Whats left are diseases where experiments dont replicate people. Data alone canot solve the problem.

Daphne Koller, boss of Insitro, a biotech company based in San Francisco, shares Dr Scannells scepticism about the way drug discovery has been done. A lot of candidate drugs fail, she says, because they aim for targets that are not actually relevant to the biology of the condition involved. Instead researchers make decisions based on accepted rules of thumb, gut instincts or a ridiculous mouse model that has nothing to do with what is actually going on in the relevant human diseaseeven if it makes a mouse look poorly in a similar sort of way.

But she also thinks that is changing. Among the things precision biology has improved over the past five to 10 years have been the scientists own tools. Gene-editing technologies allow genes to be changed in various ways, including letter by letter; single-cell analysis allows the results to be looked at as they unfold. These edited cells may be much more predictive of the effects of drugs than previous surrogates. Organoidsself-organised, three-dimensional tissue cultures grown from human stem cellsoffer simplified but replicable versions of the brain, pancreas, lung and other parts of the body in which to model diseases and their cures.

Insitro is editing changes into stem cellswhich can grow into any other tissueand tracking the tissues they grow into. By measuring differences in the development of very well characterised cells which differ in precisely known ways the company hopes to build more accurate models of disease in living cells. All this work is automated, and carried out on such a large scale that Dr Koller anticipates collecting many petabytes of data before using machine learning to make sense of it. She hopes to create what Dr Scannell complains biology lacks and what drug designers need: predictive models of how genetic changes drive functional changes.

There are also reasons to hope that the new upstream drugsASOs, siRNAs, perhaps even some gene therapiesmight have advantages over todays therapies when it comes to small-batch manufacture. It may also prove possible to streamline much of the testing that such drugs go through. Virus-based gene-therapy vectors and antisense drugs are basically platforms from which to deliver little bits of sequence data. Within some constraints, a platform already approved for carrying one message might be fast-tracked through various safety tests when it carries another.

One more reason for optimism is that drugs developed around a known molecule that marks out a diseasea molecular markerappear to be more successful in trials. The approval process for cancer therapies aimed at the markers of specific mutations is often much shorter now than it used to be. Tagrisso (osimertinib), an incredibly specialised drug, targets a mutation known to occur only in patients already treated for lung cancer with an older drug. Being able to specify the patients who stand to benefit with this degree of accuracy allows trials to be smaller and quicker. Tagrisso was approved less than two years and nine months after the first dose was given to a patient.

With efforts to improve the validity of models of disease and validate drug targets accurately gaining ground, Dr Scannell says he is sympathetic to the proposal that, this time, scientific innovation might improve productivity. Recent years have seen hints that Erooms law is being bent, if not yet broken.

If pharmaceutical companies do not make good on the promise of these new approaches then charities are likely to step in, as they have with various ASO treatments for inherited diseases. And they will not be shackled to business models that see the purpose of medicine as making drugs. The Gates Foundation and Americas National Institutes of Health are investing $200m towards developing treatments based on rewriting genes that could be used to tackle sickle-cell disease and HIVtreatments that have to meet the proviso of being useful in poor-country clinics. Therapies in which cells are taken out of the body, treated in some way and returned might be the basis of a new sort of business, one based around the ability to make small machines that treat individuals by the bedside rather than factories which produce drugs in bulk.

There is room in all this for individuals with vision; there is also room for luck: Dr Nizar has both. Her problem lies in PTH1R, a hormone receptor; her PTH1R gene makes a form of it which is jammed in the on position. This means her cells are constantly doing what they would normally do only if told to by the relevant hormone. A few years ago she learned that a drug which might turn the mutant receptor off (or at least down a bit) had already been characterisedbut had not seemed worth developing.

The rabbit, it is said, outruns the fox because the fox is merely running for its dinner, while the rabbit is running for its life. Dr Nizars incentives outstrip those of drug companies in a similar way. By working with the FDA, the NIH and Massachusetts General Hospital, Dr Nizar helped get a grant to make enough of the drug for toxicology studies. She will take it herself, in the first human trial, in about a years time. After that, if things go well, her childrens pain may finally be eased.

This article appeared in the Technology Quarterly section of the print edition under the headline "Kill or cure?"

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Scarborough brother and sister, aged 11 and 12, with the genetic cholesterol condition FH are helped by new clinic – Whitby Gazette

Friday, March 13th, 2020

The clinic helps children at risk of developing heart disease in the future due to high cholesterol.

They can now attend a ground-breaking clinic run by the familial hypercholesterolemia (FH) service at York Teaching Hospital NHS Foundation Trust.

FH is an inherited condition which can lead to extremely high cholesterol levels and is passed down through families in the genes.

The FH service, led by Dr Chandrajay, Consultant in Chemical Pathology and Metabolic Medicine, and Claire Tuson, Familial Hypercholesterolaemia Specialist Nurse, has recently extended their service to include children and adolescents.

Claire explained: Research has shown that children with FH start to develop a build-up of fatty plaque in their arteries before the age of 10. Once diagnosed, FH is easy to treat so it makes sense to work with families as soon as possible.

Last year, with the support of Consultant Paediatrician Dr Dominic Smith, we extended gene testing to all children aged 10 years old and over, who have a parent affected with FH. Testing children for FH could prevent a potentially fatal heart attack or stroke.

The first six children from York and Scarborough that were identified with FH have recently attended our new Yorkshire and Humber joint paediatric clinic for children and their families, which launched at the end of January.

FH is estimated to affect 1 in 250 people in the UK, including over 56,000 children.

It is an inherited disorder of cholesterol and lipid metabolism, caused by an alteration in a single gene where people have higher levels of bad cholesterol levels from birth. If left undetected and untreated FH can lead to the early development of heart and circulatory problems.

Kiera Pickering, aged 12, and her brother Connor, aged 11, from Scarborough, were two of the first children to attend the clinic.

Claire added: Its a real breakthrough to be able to identify and treat children with FH so early. Alongside dietary and lifestyle advice to maintain a healthy body weight, children can be considered for statin therapy from as young as 10 years old.

"Statin treatment can not only prevent, but potentially reverse, the build-up of cholesterol and allow children and young people to live a perfectly healthy life.

Despite the availability of genetic testing, more than 85 percent of people with FH in the UK are undiagnosed.

The British Heart Foundation estimates that currently only around 600 children in the UK have been diagnosed with FH, meaning that thousands more are not on treatment and remain unaware of their future risk of heart disease.

For more information about the FH clinics contact claire.tuson@york.nhs.uk

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Scarborough brother and sister, aged 11 and 12, with the genetic cholesterol condition FH are helped by new clinic - Whitby Gazette

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Reviewing Evidence on the Screening, Diagnosis, and Care of Familial Hypercholesterolemia – The Cardiology Advisor

Friday, March 13th, 2020

Familialhypercholesterolemia (FH) is one of the most clinically relevant monogenicdisorders contributing to the development of atherosclerotic cardiovasculardisease (ASCVD). The prevalence of FH was estimated to be 1 in 200 to 1 in 250 individualsin studies in which genetic testing was conducted on large community populationsamples.1 However, the disease often remains undetected and thusuntreated, with only 10% of individuals with FH receiving adequate diagnosisand treatment.2

Notingthe recent accumulation of studies on FH, the authors of a Nature ReviewsCardiology article sought tosummarize the key elements of a model of care for the condition that canbe adapted as new evidence emerges.1 Selected points are highlightedbelow.

Screening and detection. A combination of selective, opportunistic (eg, genetic screening of blood donors), systematic, and universal screening approaches is recommended to improve the detection of FH. Universal screening of children and childparent (reverse) cascade testing is potentially a highly effective method for detecting patients with FH at a young age, before they develop ASCVD32 [and] might be particularly relevant to communities with gene founder effects, noted the review authors. All children with FH should ideally be detected from the age of 5 years or earlier if homozygous FH (hoFH) is suspected.

Diagnosis. In the United States, elevated levels of low-density lipoprotein cholesterol (LDL-C) and a family history of FH are the main phenotypic criteria for FH diagnosis in children. Patients with hoFH, heterozygous FH (heFH), and polygenic hypercholesterolemia may also present with overlapping LDL-C levels, posing a challenge for the development of a standardized diagnostic tool for FH.

Genetic testing. Aninternational expert panel recently endorsed genetic testing in the care ofpatients with FH as it would [allow] a definitive diagnosis, improve[e] riskstratification, address the increasing need for more potent therapies, improve[e]adherence to treatments, and increase[e] the precision and cost- effectivenessof cascade testing.1,3 However, genetic testing remains underuseddue to issues such as cost, low access to genetic counseling, and lack ofclinician knowledge in this area.

Clinical risk assessment.Cumulative lifetime exposure to elevated LDL-C is the key factor driving ASCVDrisk in asymptomatic patients with FH, further underscoring the need for timelydiagnosis and risk stratification. In addition to phenotypic and geneticfactors, imaging of subclinical atherosclerosis, might be the most usefulclinical tool for assessing risk in FH.1 For example, imaging ofcoronary artery calcium can be used to predict coronary events in asymptomaticmiddle-aged patients with FH taking statins, and computed tomography coronaryangiography can be used to assess plaque burden and to intensify therapy.

Care of adults.Emerging evidence continues to support aggressive cholesterol-lowering therapyand lifestyle management in patients with FH from as young as 8 years tomaximally mitigate the cumulative cholesterol burden of risk. The review authorsemphasize the importance of patient-centered care and shared decision making,although health literacy is a challenge that may need to be addressed with somepatients.

Whilethere is insufficient evidence to develop strictly defined LDL-C treatmenttargets, current evidence-based recommendations stipulate that in adultpatients with FH, statin therapy and diet should initially be targeted toachieve a 50% reduction in LDL-cholesterol level and an LDL-cholesterol level<1.8 mmol/l (70 mg/dl) or <2.6 mmol/l (100 mg/dl) for primaryprevention, and <1.4 mmol/l (55 mg/dl) or <1.8 mmol/l (70 mg/dl) forsecondary prevention or for patients at very high risk.1

The addition of ezetimibe is indicated in patients who do not achieve the recommended LDL-C levels with statins alone. The use of a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor as a third-line therapy is recommended in those patients or in patients who are intolerant to statins. The addition of a PCSK9 inhibitor in patients with heFH can further reduce LDL-C levels by approximately 60% and lead to recommended treatment targets in more than 80% of patients. However, these agents should not be used during pregnancy, as they cross the placenta and their impact on fetal development has not yet been determined.

Care of children. Extensive evidence supports the treatment of FH starting in childhood, as [m]odest and sustained reductions in LDL- cholesterol levels from early life can have a major effect on reducing mortality associated with ASCVD. Initial therapy is based on lifestyle management in early childhood, with the addition of statins by age 10 years in children with HeFH and upon diagnosis in children with hoFH. Ongoing research is investigating the efficacy and safety of PCSK9 inhibitors in children with heFH or hoFH.4,5

Radical therapies and novel approaches. Lipoprotein apheresis may be required insevere cases of FH, including in pregnant women, and liver transplantationremains the only curative therapy for patients with severe hoFH.

In ongoing studies, an array of novel treatment approaches are being examined, including functional LDL receptor gene transfer therapy in patients with hoFH and targeted RNA-based therapies to lower elevated lipoporotein(a) levels.6-8

Reviewauthors also emphasized the importance of clinical registries, patient supportgroups and networks, and the need for structured research programs that areunderpinned by actionable dissemination and implementation strategies,research skills and training among service providers, and sustainable fundingmodels. They stated that a major challenge is translating new evidence intohealth policy and routine care. Systems approaches for supporting healthorganizations and providers in addressing these gaps in care and serviceprovision are essential.

We spoke with Seth Shay Martin, MD, MHS, associate professor ofmedicine at the Johns Hopkins University School of Medicine in Baltimore,Maryland, and director of the Advanced Lipid Disorders Program of the Ciccarone Center atJohns Hopkins.

Cardiology Advisor: What are examplesof the latest advances in knowledge or practice pertaining to FH?

Dr Martin: A big advance inpractice has been the introduction of PCSK9 inhibitors. When added to statinsand ezetimibe, this class of medications can lower LDL-C by 60% sometimes the reduction can be lower, but inmy experience the effect is commonly approximately 60%. This leads to patientscoming back to clinic really satisfied.

Cardiology Advisor: What is the optimalapproach for the treatment of these patients, and what are some of the toptreatment challenges?

Dr Martin: The optimal approach is to follow the 2018 American Heart Association/American College of Cardiology multi-society guidelines, which recommend a combination approach of lifestyle modification with first-line maximal statin therapy, followed by the addition of ezetimibe and PCSK9 inhibitors. The LDL-C threshold at which additional therapy should be considered is70 mg/dL in high-riskpatients with ASCVD and FH. In patients with isolated FH (termed severe hypercholesterolemia by the guidelines,based on LDL-C levels 190 mg/dL), the LDL-C threshold is 100 mg/dL.

Cardiology Advisor: What are otherrelevant treatment implications for clinicians who treat these patients?

Dr Martin: One of the joys intaking care of a patient with FH is taking care of a family. It is a geneticdisorder with a 50% chance of being passed from parent to child. It is key toperform cascade testing to identify other members of the family; family visitsto the clinic can be beneficial for all.

Cardiology Advisor: What are remaining needs in thisarea?

Dr Martin: There is a great need for increasing awareness and diagnosis rates for FH. This is what our center is working to do as partners of the FH Foundation and as a CASCADE FH Registry site.

References

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Pluristem and Charit University of Medicine Berlin Join Forces Targeting Potential Treatment for Respiratory and Inflammatory Intratissue…

Friday, March 13th, 2020

DetailsCategory: DNA RNA and CellsPublished on Friday, 13 March 2020 09:52Hits: 132

HAIFA, Israel I March 12, 2020 I HAIFA, Israel, March 12, 2020 - Pluristem Therapeutics Inc. (Nasdaq:PSTI) (TASE:PSTI), a leading regenerative medicine company developing a platform of novel biological products, today announced it has signed a collaborative agreement with the BIH Center for Regenerative Therapy (BCRT) and the Berlin Center for Advanced Therapies (BeCAT) at Charite University of Medicine Berlin to expand its existing framework and research agreement and conduct a joint project evaluating the therapeutic effects of Pluristems patented PLX cell product candidates for potential treatment of the respiratory and inflammatory complications associated with the COVID-19 coronavirus.

PLX cells are allogeneic mesenchymal-like cells that have immunomodulatory properties that induce the immune systems natural regulatory T cells and M2 macrophages, and thus may prevent or reverse the dangerous overactivation of the immune system. Accordingly, PLX cells may potentially reduce the fatal symptoms of COVID-19 induced pneumonia and pneumonitis. Previous pre-clinical findings of PLX cells revealed significant therapeutic effects in animal studies of pulmonary hypertension, lung fibrosis, acute kidney injury and gastrointestinal injury which are potential complications of the severe COVID-19 infection. Clinical data using PLX cells demonstrated the strong immunomodulatory potency of PLX cells in patients post major surgery. Taken together, PLX cells potential capabilities with the safety profile observed from clinical trials involving hundreds of patients worldwide potentially position them as a therapy for mitigating the tissue-damaging effects of COVID-19.

The collaboration with Charit researchers will allow us to expedite our program to potentially enable the use of PLX cells to treat patients infected with COVID-19 that have respiratory and immunological complications. The fact that PLX is available off-the-shelf, combined with our ability to manufacture large scale quantities, is a key advantage in case a large number of patients may need respiratory support. The primary target is to prevent the deterioration of patients towards Acute Respiratory Distress Syndrome (ARDS) and sepsis. We intend to start the joint collaboration immediately, with an aim to bringing much needed treatment to a rapidly expanding global health threat, stated Yaky Yanay, Pluristem President and CEO.

Prof. Hans-Dieter Volk, Director of the BCRT at Charite University Medicine Berlin, commented, Through our long-term collaboration with Pluristem, we have a thorough understanding of PLX cells and their mechanism of action. Charites unique knowledge, which includes research and clinical expertise in the immunopathogenesis of viral infections and critically ill patients, provides us an accelerated framework in which we believe PLX cells can be explored as a potential therapy for patients infected with COVID-19.

About BIH Center for Regenerative TherapiesThe BIH Center for Regenerative Therapies (BCRT) is a cooperative translational research institution of the Charit University Hospital in Berlin and the Berlin Institute of Health (BIH). The mission of the BCRT is to develop a translational platform for Regenerative Therapies from bench-to-bedside. The clinical platforms -- Immune, muskuloskleletal, and cardiovascular system -- are cross-linked by cross-field clinical fields (cachexia/sarcopenia, genetic diseases) and technology and translation support platforms. There are extended experiences in clinical trials with cell therapy, including phase 1-3 trials with PLX cells.

About Berlin Center for Advanced Therapies (BeCAT)The Berlin Center for Advanced Therapies is a spin-off of the BCRT focusing on translation of cell and gene therapies in the major research fields of regenerative medicine and cancer. It consists of four research fields (endogenous regeneration, tissue engineering, anti-cancer immunotherapy, and rare diseases) and three technology platforms (manufacturing, product characteristics and biomarker, and clinical development and regulatory affairs.

About Pluristem TherapeuticsPluristem Therapeutics Inc. is a leading regenerative medicine company developing novel placenta-based cell therapy product candidates. The Company has reported robust clinical trial data in multiple indications for its patented PLX cell product candidates and is currently conducting late stage clinical trials in several indications. PLX cell product candidates are believed to release a range of therapeutic proteins in response to inflammation, ischemia, muscle trauma, hematological disorders and radiation damage. The cells are grown using the Company's proprietary three-dimensional expansion technology and can be administered to patients off-the-shelf, without tissue matching. Pluristem has a strong intellectual property position; a Company-owned and operated GMP-certified manufacturing and research facility; strategic relationships with major research institutions; and a seasoned management team.

SOURCE: Pluristem Therapeutics

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Flagship Pioneering Announces the Launch of Repertoire Immune Medicines with Industry Veteran John G. Cox as Chief Executive Officer – Business Wire

Friday, March 13th, 2020

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Flagship Pioneering, a life sciences innovation enterprise, announced the launch of Repertoire Immune Medicines, a clinical-stage biotechnology company tapping the curative powers of our immune system to prevent, treat and cure cancer, autoimmune disorders and infectious diseases.

Repertoire Immune Medicines was formed by combining two Flagship companies the innovative and proprietary immune decoding platforms of Cogen Immune Medicines and the immuno-oncology platforms of Torque Therapeutics to create a fully integrated Immune Medicines company. At the helm is Chief Executive Officer John Cox, who most recently led the spin-off of Bioverativ (BIIV) from Biogen (BIIB), and its growth and successful acquisition by Sanofi (SNY).

During the last 4 years, these two Flagship Pioneering originated companies each advanced novel and complementary platforms protected by over 30 patent families. Through their combination, Repertoire Immune Medicines now has the unique capability to decipher human subject-derived antigen-T cell receptor (TCR) codes from healthy or diseased tissues in the context of the major MHC (HLA) types. These complexes dictate T cell activation or exhaustion, and their immunological codes can be used to design and clinically test a multitude of unprecedented therapeutic products based on precedented and specific mechanisms of T cell killing of antigen presenting tumor cells or infected cells.

Repertoire is pioneering a new class of therapies based on high throughput, high content interrogation of the intrinsic ability of T cells to prevent, or cure diseases, said Noubar Afeyan, Ph.D., Chief Executive Officer of Flagship Pioneering and Co-Founder and Chairman of the Board of Repertoire Immune Medicine. He continued, our products will be designed to leverage the highly evolved, potent and clinically-validated mechanism of the natural immune synapse to provide immune security to patients. With these ambitious goals in mind, we are pleased to have a proven leader, John Cox, as CEO to realize our shared vision to dramatically improve outcomes for those in need or at risk.

Repertoire has developed a suite of DECODE technologies that allows in-depth characterization of the immune synapse with unprecedented precision. The company leverages its functional response technologies to thoroughly understand the presentation of antigens in disease, de-orphan T cell receptors in the context of single-cell phenotypes, and curate vast amounts of data to enable deep-learning computational prediction models. By coupling single cell technologies with cellular and acellular antigen libraries, the company decodes CD4+ and CD8+ TCR-antigen specificity across selected T cell subsets from patients and from healthy individuals.

I am pleased to work with the Flagship Pioneering team to integrate these two pioneering companies into a fully formed immune medicines business, said John Cox, Chief Executive Officer of Repertoire Immune Medicines. Advancing rationally designed immune medicines into the clinic and eventually to commercialization offers tremendous potential for patients and long-term value for our shareholders.

Three DECODE discovery technologies are at the core of the companys immune synapse deciphering platform:

Decoding immune synapses relevant to a particular disease allows Repertoire to deploy the molecular codes to rationally design new immune medicines as disease-fighting TCRs and disease-associated antigens in its therapeutic products.

Repertoires DEPLOY technologies form a product-based platform that includes:

Repertoire is currently engaged in its first dose escalation safety trial with an autologous T cell product TRQ15-01, which leverages its proprietary PRIME platform to prepare the patients T cells and its proprietary TETHER platform to link an IL-15 nanogel immune modulator to the T cells.

The journey for Repertoire Immune Medicines commenced when Flagship Labs scientists contemplated how to rationally and efficiently direct the power of our T cells for therapeutics and cures. One origination group, led by David Berry, M.D., Ph.D., General Partner of Flagship Pioneering, focused on systematically unlocking antigen specific immune control. In parallel, another Flagship origination group, led by Doug Cole, M.D., General Partner of Flagship Pioneering, and based on the cytokine binding work from Prof. Darrell Irvines lab at MIT, focused on using autologous T cells to direct potent immune modulators to the tumor microenvironment.

To date, the combined companies raised over $220M to create and develop the DECODE discovery platform and DEPLOY product platform, and to initiate its first clinical trial of PRIME & TETHER T cells in cancer. Repertoires rapid advancement reflects its creative, dedicated and diverse team of over 120 professionals possessing expertise in immunology, experimental medicine, physics, computational science, material sciences, process engineering, bioengineering, protein design and applied mathematics.

ABOUT REPERTOIRE IMMUNE MEDICINESRepertoire Immune Medicines, a Flagship Pioneering company, is a clinical stage biotechnology company working to unleash the remarkable power of the human immune system to prevent, treat or cure cancer, autoimmune conditions and infectious diseases. The company is founded on the premise that the repertoire of TCR-antigen codes that drive health and disease represents one of the greatest opportunities for innovation in medical science. The company harnesses and deploys the intrinsic ability of T cells to prevent and cure disease. Repertoire scientists created and developed a suite of technologies for its DECODE discovery and DEPLOY product platforms that allow in-depth characterization of the immune synapse and the ability to rationally design, and clinically develop, multi-clonal immune medicines. The company is currently conducting experimental medicine clinical trials using autologous T cells primed against cancer antigens and tethered to IL-15. To learn more about Repertoire Immune Medicine, please visit our website: http://www.repertoire.com.

ABOUT FLAGSHIP PIONEERINGFlagship Pioneering conceives, creates, resources, and develops first-in-category life sciences companies to transform human health and sustainability. Since its launch in 2000, the firm has applied a unique hypothesis-driven innovation process to originate and foster more than 100 scientific ventures, resulting in over $30 billion in aggregate value. To date, Flagship is backed by more than $3.3 billion of aggregate capital commitments, of which over $1.7 billion has been deployed toward the founding and growth of its pioneering companies alongside more than $10 billion of follow-on investments from other institutions. The current Flagship ecosystem comprises 37 transformative companies, including: Axcella Health (NADAQ: AXLA), Denali Therapeutics (NASDAQ: DNLI), Evelo Biosciences (NASDAQ: EVLO), Foghorn Therapeutics, Indigo Agriculture, Kaleido Biosciences (NASDAQ: KLDO), Moderna (NASDAQ: MRNA), Rubius Therapeutics (NASDAQ: RUBY), Seres Therapeutics (NASDAQ: MCRB), and Syros Pharmaceuticals (NASDAQ: SYRS). To learn more about Flagship Pioneering, please visit our website: http://www.FlagshipPioneering.com.

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Flagship Pioneering Announces the Launch of Repertoire Immune Medicines with Industry Veteran John G. Cox as Chief Executive Officer - Business Wire

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Faculty members receive funding to advance stem cell research – UBC Faculty – UBC Faculty of Medicine

Friday, March 13th, 2020

By Stephanie Chow | March 12, 2020

Three Faculty of Medicine researchers Drs. Zachary Laksman, Bruce Verchere and Tim Kieffer have collectively received more than $1.6M from the Stem Cell Network (SCN) to advance their work in stem cell and regenerative medicine research.

The SCN investment, which will advance research collaborations across the country, aims to translate stem cell-based therapies from bench to bedside for the benefit of all Canadians.

Dr. Zachary Laksman, Department of Medicine, Division of Cardiology

UBC Collaborators: Dr. Glen Tibbits, Dr. Liam Brunham, Dr. Francis Lynn, Dr. Shubhayan Sanatani

Project: Pipeline Towards Stem Cell Driven Personalized Medicine for Atrial Fibrillation

Dr. Bruce Verchere, Department of Pathology & Laboratory Medicine

UBC Collaborators: Dr. Francis Lynn, Dr. Megan Levings, Tim Kieffer, Dr. Dina Panagiotopoulos, Dr. Brad Hoffman

Project: Genetic Manipulation of hES-derived Insulin-producing Cells to Improve Graft Outcomes

Dr. Tim Kieffer, Department of Cellular & Physiological Sciences

UBC Collaborators: Dr. James Piret, Dr. Megan Levings

Project: A Bioprinted Insulin-Producing Device for Diabetes

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Researchers Predict Potential Spread and Seasonality for COVID-19 Based on Climate Where Virus Appears to Thrive – Newswise

Friday, March 13th, 2020

Newswise Researchers at the University of Maryland School of Medicines Institute of Human Virology (IHV), which is part of the Global Virus Network (GVN), predict that COVID-19 will follow a seasonal pattern similar to other respiratory viruses like seasonal flu. They base this on weather modeling data in countries where the virus has taken hold and spread within the community.

In a new paper published on the open-data site SSRN, the researchers found that all cities experiencing significant outbreaks of COVID-19 have very similar winter climates with an average temperature of 41 to 52 degrees Fahrenheit, an average humidity level of 47 to 79 percent with a narrow east-west distribution along the same 30-50 N latitude. This includes Wuhan, China, South Korea, Japan, Iran, Northern Italy, Seattle, and Northern California. It could also spell increasing trouble for the Mid-Atlantic States and -- as temperatures rise -- New England.

Based on what we have documented so far, it appears that the virus has a harder time spreading between people in warmer, tropical climates, said study leader Mohammad Sajadi, MD, Associate Professor of Medicine at the Insitute of Human Virology at the UMSOM and a member of GVN. That suggests once average temperatures rise above 54 degrees Fahrenheit (12 degrees Celsius) and higher, the virus may be harder to transmit, but this is still a hypothesis that requires more data.

The team based its predictions on weather data from the previous few months as well as typical patterns from last year to hypothesize on community spread within the next few weeks. Using 2019 temperature data for March and April, risk of community spread could be predicted to occur in areas just north of the current areas at risk, said study co-author Augustin Vintzileos, PhD, Assistant Research Scientist in the Earth System Science Interdisciplinary Center at the University of Maryland, College Park. He plans to do further modeling of current weather data to help provide more certainty to the predictions.

Researchers from Shiraz University of Medical Sciences in Shiraz, Iran, and Shaheed Beheshti University of Medical Sciences in Tehran, Iran also participated in this study.

I think what is important is this is a testable hypotheses, said study co-author Anthony Amoroso, MD, UMSOM Associate Professor of Medicine and Associate Chief of Infectious Diseases who is also Chief of Clinical Care Programs for IHV. And if it holds true, could be very helpful for health system preparation, surveillance and containment efforts.

In areas where the virus has already spread within the community, like Wuhan, Milan, and Tokyo, temperatures did not dip below the freezing mark, the researchers pointed out. They also based their predictions on a study of the novel coronavirus in the laboratory, which found that a temperature of 39 degrees Fahrenheit and humidity level of 20 to 80 percent is most conducive to the viruss survival.

Through this extensive research, it has been determined that weather modeling could potentially explain the spread of COVID-19, making it possible to predict the regions that are most likely to be at higher risk of significant community spread in the near future, said Robert C. Gallo Co-founder & Director, Institute of Human Virology at the University of Maryland School of Medicine and Co-Founder and Chairman of the International Scientific Leadership Board of the GVN. Dr. Gallo is also The Homer & Martha Gudelsky Distinguished Professor in Medicine and Director, Institute of Human Virology at the University of Maryland School of Medicine, a GVN Center of Excellence. In addition to climate variables, there are multiple factors to be considered when dealing with a pandemic, such as human population densities, human factors, viral genetic evolution and pathogenesis. This work illustrates how collaborative research can contribute to understanding, mitigating and preventing infectious threats.

Dr. Gallo is a co-founder of the Global Virus Network, which is a consortium of leading virologists spanning 53 Centers of Excellence and nine Affiliates in 32 countries worldwide, working collaboratively to train the next generation, advance knowledge about how to identify and diagnose pandemic viruses, mitigate and control how such viruses spread and make us sick, as well as develop drugs, vaccines and treatments to combat them. The Network has been meeting regularly to discuss the COVID-19 pandemic sharing their expertise in all viral areas and their research findings.

This study raises some provocative theories that, if correct, could be useful in helping to direct public health strategies, said UMSOM Dean E. Albert Reece, MD, PhD, MBA, who is also University Executive Vice President for Medical Affairs and the John Z. and Akiko K. Bowers Distinguished Professor. Perhaps we should be conducting heightened surveillance and expending more resources into areas that currently have the climate that is conducive to community virus spread.

###

About the Global Virus Network (GVN)

The Global Virus Network (GVN) is essential and critical in the preparedness, defense and first research response to emerging, exiting and unidentified viruses that pose a clear and present threat to public health, working in close coordination with established national and international institutions. It is a coalition comprised of eminent human and animal virologists from 53 Centers of Excellence and nine Affiliates in 32 countries worldwide, working collaboratively to train the next generation, advance knowledge about how to identify and diagnose pandemic viruses, mitigate and control how such viruses spread and make us sick, as well as develop drugs, vaccines and treatments to combat them. No single institution in the world has expertise in all viral areas other than the GVN, which brings together the finest medical virologists to leverage their individual expertise and coalesce global teams of specialists on the scientific challenges, issues and problems posed by pandemic viruses. The GVN is a non-profit 501(c)(3) organization. For more information, please visit http://www.gvn.org. Follow us on Twitter @GlobalVirusNews

About the Institute of Human Virology

Formed in 1996 as a partnership between the State of Maryland, the City of Baltimore, the University System of Maryland and the University of Maryland Medical System, IHV is an institute of the University of Maryland School of Medicine and is home to some of the most globally-recognized and world-renowned experts in all of virology. The IHV combines the disciplines of basic research, epidemiology and clinical research in a concerted effort to speed the discovery of diagnostics and therapeutics for a wide variety of chronic and deadly viral and immune disorders - most notably, HIV the virus that causes AIDS. For more information, http://www.ihv.org and follow us on Twitter @IHVmaryland.

About the University of Maryland School of Medicine

Now in its third century, the University of Maryland School of Medicine was chartered in 1807 as the first public medical school in the United States.It continues today as one of the fastest growing, top-tier biomedical research enterprises in the world -- with 45 academic departments, centers, institutes, and programs; and a faculty of more than 3,000 physicians, scientists, and allied health professionals, including members of the National Academy of Medicineand the National Academy of Sciences, and a distinguished two-time winner of the Albert E. Lasker Award in Medical Research. With an operating budget of more than $1.2 billion, the School of Medicine works closely in partnership with the University of Maryland Medical Center and Medical System to provide research-intensive, academic and clinically based care for nearly 2 million patients each year. The School of Medicine has more than $540 million in extramural funding, with most of its academic departments highly ranked among all medical schools in the nation in research funding. As one of the seven professional schools that make up the University of Maryland, Baltimore campus, the School of Medicine has a total population of nearly 9,000 faculty and staff, including 2,500 student trainees, residents, and fellows. The combined School of Medicine and Medical System (University of Maryland Medicine) has an annual budget of nearly $6 billion and an economic impact more than $15 billion on the state and local community. The School of Medicine faculty, which ranks as the 8thhighest among public medical schools in research productivity, is an innovator in translational medicine, with 600 active patents and 24 start-up companies. The School of Medicine works locally, nationally, and globally, with research and treatment facilities in 36 countries around the world. Visitmedschool.umaryland.edu

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Researchers Predict Potential Spread and Seasonality for COVID-19 Based on Climate Where Virus Appears to Thrive - Newswise

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Sarepta Therapeutics (NASDAQ:SRPT) Cut to Sell at BidaskClub – Redmond Register

Friday, March 13th, 2020

Sarepta Therapeutics (NASDAQ:SRPT) was downgraded by investment analysts at BidaskClub from a hold rating to a sell rating in a report released on Friday, BidAskClub reports.

Several other brokerages also recently weighed in on SRPT. Robert W. Baird upped their price objective on Sarepta Therapeutics from $181.00 to $192.00 and gave the stock an outperform rating in a research report on Friday, December 20th. SVB Leerink restated a buy rating and set a $216.00 price objective on shares of Sarepta Therapeutics in a research report on Thursday, January 23rd. Nomura restated a buy rating and set a $230.00 price objective on shares of Sarepta Therapeutics in a research report on Tuesday, February 25th. Barclays reaffirmed a buy rating and issued a $202.00 target price on shares of Sarepta Therapeutics in a report on Sunday, December 15th. Finally, Goldman Sachs Group reaffirmed a buy rating and issued a $180.00 target price on shares of Sarepta Therapeutics in a report on Tuesday, December 24th. One investment analyst has rated the stock with a sell rating, one has assigned a hold rating, twenty-three have assigned a buy rating and one has assigned a strong buy rating to the companys stock. The company has an average rating of Buy and an average target price of $193.95.

Shares of SRPT stock opened at $94.19 on Friday. The company has a quick ratio of 4.90, a current ratio of 5.55 and a debt-to-equity ratio of 0.89. Sarepta Therapeutics has a twelve month low of $72.05 and a twelve month high of $158.80. The company has a market cap of $7.36 billion, a P/E ratio of -9.74 and a beta of 2.08. The business has a fifty day simple moving average of $117.59 and a 200 day simple moving average of $105.77.

In other news, Director Hans Lennart Rudolf Wigzell sold 5,000 shares of the stock in a transaction dated Wednesday, March 4th. The stock was sold at an average price of $116.89, for a total value of $584,450.00. Following the completion of the sale, the director now owns 18,792 shares of the companys stock, valued at $2,196,596.88. The sale was disclosed in a legal filing with the SEC, which is available at this link. Corporate insiders own 6.60% of the companys stock.

Several hedge funds have recently modified their holdings of SRPT. Amundi Pioneer Asset Management Inc. increased its stake in shares of Sarepta Therapeutics by 32.8% in the first quarter. Amundi Pioneer Asset Management Inc. now owns 154,611 shares of the biotechnology companys stock valued at $18,428,000 after buying an additional 38,194 shares during the period. Envestnet Asset Management Inc. increased its stake in shares of Sarepta Therapeutics by 34.6% in the third quarter. Envestnet Asset Management Inc. now owns 4,024 shares of the biotechnology companys stock valued at $303,000 after buying an additional 1,034 shares during the period. Janney Montgomery Scott LLC increased its stake in shares of Sarepta Therapeutics by 20.9% in the third quarter. Janney Montgomery Scott LLC now owns 4,930 shares of the biotechnology companys stock valued at $371,000 after buying an additional 852 shares during the period. Commonwealth Equity Services LLC increased its stake in shares of Sarepta Therapeutics by 15.8% in the third quarter. Commonwealth Equity Services LLC now owns 10,951 shares of the biotechnology companys stock valued at $824,000 after buying an additional 1,497 shares during the period. Finally, Russell Investments Group Ltd. increased its stake in shares of Sarepta Therapeutics by 6.5% in the third quarter. Russell Investments Group Ltd. now owns 14,928 shares of the biotechnology companys stock valued at $1,124,000 after buying an additional 915 shares during the period. 93.82% of the stock is owned by institutional investors.

About Sarepta Therapeutics

Sarepta Therapeutics, Inc focuses on the discovery and development of RNA-based therapeutics, gene therapy, and other genetic medicine approaches for the treatment of rare diseases. The company offers EXONDYS 51, a disease-modifying therapy for duchenne muscular dystrophy (DMD). Its products pipeline include Golodirsen, a product candidate that binds to exon 53 of dystrophin pre-mRNA, which results in exclusion or skipping of exon during mRNA processing in patients with genetic mutations; and Casimersen, a product candidate that uses phosphorodiamidate morpholino oligomer (PMO) chemistry and exon-skipping technology to skip exon 45 of the DMD gene.

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Worldwide Cell Therapy Market Projections to 2028 – The Largest Expansion Will Be in Diseases of the Central Nervous System, Cancer and Cardiovascular…

Friday, March 13th, 2020

DUBLIN, March 12, 2020 /PRNewswire/ -- The "Cell Therapy - Technologies, Markets and Companies" report from Jain PharmaBiotech has been added to ResearchAndMarkets.com's offering.

The cell-based markets was analyzed for 2018, and projected to 2028. The markets are analyzed according to therapeutic categories, technologies and geographical areas. The largest expansion will be in diseases of the central nervous system, cancer and cardiovascular disorders. Skin and soft tissue repair as well as diabetes mellitus will be other major markets.

The number of companies involved in cell therapy has increased remarkably during the past few years. More than 500 companies have been identified to be involved in cell therapy and 309 of these are profiled in part II of the report along with tabulation of 302 alliances. Of these companies, 170 are involved in stem cells.

Profiles of 72 academic institutions in the US involved in cell therapy are also included in part II along with their commercial collaborations. The text is supplemented with 67 Tables and 25 Figures. The bibliography contains 1,200 selected references, which are cited in the text.

This report contains information on the following:

The report describes and evaluates cell therapy technologies and methods, which have already started to play an important role in the practice of medicine. Hematopoietic stem cell transplantation is replacing the old fashioned bone marrow transplants. Role of cells in drug discovery is also described. Cell therapy is bound to become a part of medical practice.

Stem cells are discussed in detail in one chapter. Some light is thrown on the current controversy of embryonic sources of stem cells and comparison with adult sources. Other sources of stem cells such as the placenta, cord blood and fat removed by liposuction are also discussed. Stem cells can also be genetically modified prior to transplantation.

Cell therapy technologies overlap with those of gene therapy, cancer vaccines, drug delivery, tissue engineering and regenerative medicine. Pharmaceutical applications of stem cells including those in drug discovery are also described. Various types of cells used, methods of preparation and culture, encapsulation and genetic engineering of cells are discussed. Sources of cells, both human and animal (xenotransplantation) are discussed. Methods of delivery of cell therapy range from injections to surgical implantation using special devices.

Cell therapy has applications in a large number of disorders. The most important are diseases of the nervous system and cancer which are the topics for separate chapters. Other applications include cardiac disorders (myocardial infarction and heart failure), diabetes mellitus, diseases of bones and joints, genetic disorders, and wounds of the skin and soft tissues.

Regulatory and ethical issues involving cell therapy are important and are discussed. Current political debate on the use of stem cells from embryonic sources (hESCs) is also presented. Safety is an essential consideration of any new therapy and regulations for cell therapy are those for biological preparations.

Key Topics Covered

Part I: Technologies, Ethics & RegulationsExecutive Summary 1. Introduction to Cell Therapy2. Cell Therapy Technologies3. Stem Cells4. Clinical Applications of Cell Therapy5. Cell Therapy for Cardiovascular Disorders6. Cell Therapy for Cancer7. Cell Therapy for Neurological Disorders8. Ethical, Legal and Political Aspects of Cell therapy9. Safety and Regulatory Aspects of Cell Therapy

Part II: Markets, Companies & Academic Institutions10. Markets and Future Prospects for Cell Therapy11. Companies Involved in Cell Therapy12. Academic Institutions13. References

For more information about this report visit https://www.researchandmarkets.com/r/sy4g72

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Global Precision Medicine Market was Estimated to Grow at a Rate of 20.9% During the Forecast Period due to Increasing Focus of Healthcare Sector on…

Thursday, March 12th, 2020

The primary participants engaged in precision medicine market include Novartis, Qiagen, Biocrates Life Sciences, Pfizer, Eagle Genomics, Tepnel Pharma Services

PUNE, India, March 11, 2020 /PRNewswire/ -- Precision medicine is a healthcare model that enables the dynamic methodology of healthcare, with medical choices, diagnosis, policies, or items being custom-made to the specific patient. Methodologies involved in precision medicine majorly include molecular diagnostics, imaging, and analytics. The global precision medicine market is growing at a spectacular rate owing to growing online interactive forums, growing attempts to classify genes and advances in cancer biology which have become the key factors driving the growth of this sector. The basic concept of precision medicine is to understand the genetic makeup and variation at a population level, and further at an individual level, in order to tailor a medication that targets a specific gene type. Sequencing or characterizing genes is therefore the most important method of gathering information on genes and their possible mutations. Precision medicine includes the administration of panomic examination to examine the after effects of individual patient's disease and then to utilize targeted treatments to identify the individual patient's disease timeframe and to provide better diagnostic solutions.

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Technological advances in big data analysis and the introduction of new technologies will have a positive impact on the growth of the precision medicine market. It is anticipated that the attention of healthcare and diagnostic companies on providing several new oncology and respiratory technologies among others will help the overall growth of the industry. In addition, precision medicine software is specifically designed to develop precise medicines which are used in the treatment of chronic and genetic diseases to ensure faster recovery of patients. Massive demand for such software will increase the growth of the precision medicine market in healthcare companies for better patient engagement. Furthermore, rising applications in artificial intelligence is further advancing the precision medicine initiative. Machine learning algorithms are applied for changing genomic sequence and to analyze and draw conclusions from the massive volumes of patients' information.

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The detailed research study provides qualitative and quantitative analysis of precision medicine market. The market has been analyzed from demand as well as supply side. The demand side analysis covers market revenue across regions and further across all the major countries. The supply side analysis covers the major market players and their regional and global presence and strategies. The geographical analysis done emphasizes on each of the major countries across North America, Europe, Asia Pacific, Middle East & Africa and Latin America.

Key Findings of the Report:

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Precision Medicines Market:

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BridgeBio Pharma’s QED Therapeutics Announces Dosing of First Patients in Phase 3 and Phase 2 Clinical Trials of Infigratinib in Tumors with FGFR…

Thursday, March 12th, 2020

PROOF 302 Trial Enrolling Subjects with Invasive Urothelial Carcinoma with Susceptible FGFR3 Genetic Alterations

Ohio State University-Led Trial to Study Infigratinib for Treatment of Patients with Advanced or Metastatic Solid Tumors with FGFR Genetic Alterations

SAN FRANCISCO, March 12, 2020 (GLOBE NEWSWIRE) --BridgeBio LLC, Inc. (Nasdaq: BBIO) affiliate company QED Therapeutics announced today that patients have been dosed in separate Phase 3 and Phase 2 clinical trials of infigratinib in cancer indications.

The Phase 3 PROOF 302 trial sponsored by QED is studying infigratinib for the adjuvant (post-surgery) treatment of invasive urothelial carcinoma. A second, investigator-initiated trial, led by Sameek Roychowdhury, M.D., Ph.D., of The Ohio State University (OSU) Comprehensive Cancer Center, is studying infigratinib for the treatment of advanced and metastatic solid tumors with confirmed FGFR gene fusions/translocations or other FGFR alterations.

In the PROOF 302 trial, investigators are enrolling subjects with invasive urothelial cancer harboring susceptible FGFR3 genetic alterations who are at high risk of recurrence following surgical resection. Subjects will be randomized (1:1) to receive once daily oral infigratinib or placebo. The primary outcome is disease-free survival, and secondary outcomes include metastasis-free survival, overall survival, and safety and tolerability measures.

Many patients with invasive urothelial carcinoma will have their cancer recur within two years after surgery, said PROOF 302 trial lead Sumanta Pal, M.D., professor of medical oncology and therapeutics research at City of Hope Comprehensive Cancer Center. Correspondingly, I believe there are many patients who could benefit from an oral, post-surgery treatment option that targets FGFR3 alterations, the genetic driver of many urothelial carcinomas.

The Phase 2 study at OSU and selected sites within the Oncology Research Information Exchange Network (ORIEN)will evaluate the efficacy of infigratinib in patients who have advanced or metastatic solid tumors that are positive for FGFR1-3 gene fusions/translocations or other FGFR alterations. The open-label study will assess overall response rate as the primary outcome. Secondary outcomes include progression-free survival, best overall response, disease control rate, overall survival and measures of safety and tolerability.

Increasingly, oncologists are learning to classify their patients cancers based on genetic mutations, going beyond the origin of the tumor, noted Dr. Roychowdhury. Given the activity we have seen with infigratinib in FGFR2-fusion-driven bile duct cancers and FGFR3-altered urothelial carcinoma, our hope is that infigratinib will demonstrate similar activity in additional cancers that appear to be driven by alterations in FGFR. There appear to be multiple FGFR alterations that can drive cancer growthand we hope to see these patients benefit too.

For additional information on the PROOF 302 trial, including eligibility, patients should ask their physician, visit clinicaltrials.gov, or email PROOF302@QEDtx.com.

For additional information on the Phase 2 trial in metastatic solid tumors with FGFR gene alterations, including eligibility, patients should ask their physician, visit clinicaltrials.gov, or email OSUCCCClinicaltrials@osumc.edu.

About QED Therapeutics QED Therapeutics, an affiliate of BridgeBio Pharma, is a biotechnology company focused on precision medicine for FGFR-driven diseases. Our lead investigational candidate is infigratinib (BGJ398), an orally administered, FGFR1-3 selective tyrosine kinase inhibitor that has shown activity that we believe to be meaningful in clinical measures, such as overall response rate, in patients with chemotherapy-refractory cholangiocarcinoma with FGFR2 fusions and advanced urothelial carcinoma with FGFR3 genomic alterations. QED intends to submit a New Drug Application (NDA) with the United States Food and Drug Administration (FDA) for second and later-line cholangiocarcinoma in 2020. QED Therapeutics is also evaluating infigratinib in preclinical studies for the treatment of achondroplasia. We plan to conduct further clinical trials to evaluate the potential for infigratinib to treat patients with other FGFR-driven tumor types and rare disorders.

For more information on QED Therapeutics, please visit the companys website at qedtx.com.

About BridgeBio Pharma, Inc.

BridgeBio is a team of experienced drug discoverers, developers and innovators working to create life-altering medicines that target well-characterized genetic diseases at their source. BridgeBio was founded in 2015 to identify and advance transformative medicines to treat patients who suffer from Mendelian diseases, which are diseases that arise from defects in a single gene, and cancers with clear genetic drivers. BridgeBios pipeline of over 20 development programs includes product candidates ranging from early discovery to late-stage development. For more information, visit bridgebio.com.

BridgeBio Pharma Forward-Looking Statements

This press release contains forward-looking statements. Statements we make in this press release may include statements that are not historical facts and are considered forward-looking within the meaning of Section 27A of the Securities Act of 1933, as amended (the Securities Act), and Section 21E of the Securities Exchange Act of 1934, as amended (the Exchange Act), which are usually identified by the use of words such as anticipates, believes, estimates, expects, intends, may, plans, projects, seeks, should, will, and variations of such words or similar expressions. We intend these forward-looking statements to be covered by the safe harbor provisions for forward-looking statements contained in Section 27A of the Securities Act and Section 21E of the Exchange Act and are making this statement for purposes of complying with those safe harbor provisions. These forward-looking statements, including statements relating to expectations, plans, and prospects regarding QED Therapeutics regulatory approval process, clinical trial designs, clinical development plans, clinical trial results, timing and completion of clinical trials, clinical and therapeutic potential of infigratinib, reflect our current views about our plans, intentions, expectations, strategies and prospects, which are based on the information currently available to us and on assumptions we have made. Although we believe that our plans, intentions, expectations, strategies and prospects as reflected in or suggested by those forward-looking statements are reasonable, we can give no assurance that the plans, intentions, expectations or strategies will be attained or achieved. Furthermore, actual results may differ materially from those described in the forward-looking statements and will be affected by a number of risks, uncertainties and assumptions, including, but not limited to, QED Therapeutics ability to initiate and continue its ongoing and planned clinical trials of infigratinib, the availability of data from these trials, its ability to advance infigratinib in clinical development according to its plans, and the timing of these events, as well as those risks set forth in the Risk Factors section of BridgeBio Pharma, Inc.s most recent Annual Report on Form 10-K and our other SEC filings. Moreover, QED Therapeutics operates in a very competitive and rapidly changing environment in which new risks emerge from time to time. Except as required by applicable law, we assume no obligation to update publicly any forward-looking statements, whether as a result of new information, future events or otherwise.

QED Contact:Carolyn HawleyCanale Communicationscarolyn@canalecomm.com858-354-3581

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BridgeBio Pharma's QED Therapeutics Announces Dosing of First Patients in Phase 3 and Phase 2 Clinical Trials of Infigratinib in Tumors with FGFR...

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Vertex’s Trikafta: treating the genetic basis of cystic fibrosis – Pharmaceutical Technology

Thursday, March 12th, 2020

As the coronavirus reaches more than 100 countries and the WHO declares nCoV as a global pandemic, Pharmaceutical Technology lists the top ten most affected countries by the Covid-19 coronavirus outbreak in China, by the number of cases.

China, including Hong Kong and Macau, is the worst affected country by the novel coronavirus (nCoV) outbreak, officially named Covid-19 by the World Health Organization (WHO).

China witnessed more than 3,000 deaths and approximately 74% of the global coronavirus cases as of 09 March, which quickly came down to approximately 67% by 11 March as the number of cases in rest of the world surged.

Hubei is the most-affected province within China and Wuhan, the capital city of Hubei, is the city affected worst by the coronavirus. Hubei has witnessed more than 67,000 coronavirus-positive cases as of 11 March.

The number of cases in China, however, has been on the decline starting March due to the rapid control measures and response by the Chinese government.

Coronavirus is getting severe in Italy, making it the most-affected in Europe as well as outside Asia. Travel to Italy and Italians travelling to other countries during the outbreak has been traced to have caused Covid-19 spread.

Northern Italy, where the majority of the Italian Covid-19 cases are recorded, is kept on a high alert with affected cities locked-down. The Italian governments early measures such as closing educational institutions temporarily might have limited the spread, although the aged population remains a concern.

Coronavirus deaths in Italy raised sharply from 366 on 08 March to 631 on 10 March and further to 827 on 11 March. Total cases reached 12,462.

Iran, another country from where coronavirus spread to rest of the world, currently has more than 9,000 confirmed cases and has recorded 354 deaths. Iran has been suspected to have delayed acknowledging the spread of corona virus in their country and under-reporting the cases.

A number of countries have traced their coronavirus-infected having contracted the disease during travel to Iran. Many government officials and politicians including MPs in Iran have contracted coronavirus, some of who died.

Amid fears of further coronavirus spread, Iran announced the temporary release of approximately 70,000 prisoners, according to Mizan news agency.

South Korea is hit the most by coronavirus infection outside China due to its proximity to the latter. Coronavirus cases in South Korea started surging in February and are currently close to reaching 7,900.

Deaths due to coronavirus in South Korea reached 66. The country is being assisted by China, whose experience in containing the outbreak has resulted in controlling the local spread of the epidemic.

France is the second most-affected European nation by the 2019 coronavirus. Covid-19 nCoV cases in France have reached 2,284, while death toll got close to 50.

The French government has banned public gatherings involving more than 1,000 people. The popular Louvre Museum in Paris was temporarily closed as a precautionary measure. The Paris city has reported Covid-19 coronavirus-positive cases, apart from other regions including Amiens, Bordeaux, and Eastern Haute-Savoie.

A worker at Disneyland Paris was reported by Reuters as having contracted the coronavirus. France currently has only a few clusters with coronavirus. The ongoing outbreak remains a concern to the French tourism industry as coronavirus fears are resulting in a drop in visitors.

Since the first coronavirus case confirmed on 01 February, the Spanish Covid-19 nCoV-infected cases got closer to 1,000 in early hours of 09 March and rose sharply to 2,277 by 11 March.

Spain is the second most-affected European country with coronavirus. Spanish coronavirus death toll has increased to 55 making the government and citizens nervous.

Tourism, a crucial sector for Spain, is expected to face an adverse impact due to the global coronavirus fears. The Spanish government has advised companies to ask employees to work from home to avoid spread.

Germany, which borders France and Switzerland, also has hundreds of coronavirus-positive cases, which stand at 1,966 currently.

Similar to its neighbour France, Germany too banned public events involving huge crowds in order to prevent spread. Trade fair, The Hannover Messe, has been postponed due to the coronavirus outbreak situation.

Germany has reported three coronavirus deaths as of 11 March.

Coronavirus situation in the US is grim with the cases and deaths increasing fast. The US Covid-19 cases nearly doubled in two days, to cross 1,300 on 11 March, while the death toll passed 30.

Community spread and delayed testing is currently a major concern to Americans as enough test kits are not available across states.

The first coronavirus case in the US was confirmed on 21 January, but the cases surged from the second half of February.

Japan was among the countries that reported first coronavirus cases early following the Wuhan outbreak. In addition to the cases reported on cruise ship Diamond Princess docked in Japanese waters, the country reported 639 Covid-19 cases as of 11 March.

The Japanese governments response to containing the spread among those onboard the Diamond Princess cruise ship met with criticism.

Japan has witnessed 17 deaths due to coronavirus and is likely to feel an impact on travel and trade.

Switzerland, a popular tourist destination, is the fifth most affected European country by the novel coronavirus outbreak. The positive Covid-19 coronavirus cases in Switzerland, whose borders are close to Milan, Italy, crossed 650 on 11 March.

Some of the major cities in Switzerland, such as Geneva and Zurich, have reported confirmed coronavirus cases.

Three deaths have been reported in Switzerland due to coronavirus. The Swiss hotel and tourism industries will be affected if the coronavirus situation continues to stay for long.

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Vertex's Trikafta: treating the genetic basis of cystic fibrosis - Pharmaceutical Technology

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Viewpoint: Promise of genomics and precision medicine a ‘wave of hype without substance’ – Genetic Literacy Project

Thursday, March 12th, 2020

An undeclared civil war is breaking out in biomedicine.On one side is precision medicine, with its emphasis on tailoring treatments to ever-narrower groups of patients. On the other side is population health, which emphasizes predominantly preventive interventions that have broad applications across populations.

Which vision will provide the most durable and efficient path to improved health for all?

Disregarding the breakthrough announcements that appear on a regular basis, the question of whether precision medicine will lead to better health for all remains an open one.

We believe that genomics and precision medicine have ridden a wave of hype without substance for far too long. Unless they are able to go well beyond their thin record of empirical success and demonstrate their effectiveness in meeting the actual health needs of populations, they will be marginal players with regard to any lasting impact on the health of the public.

Fortunately, it appears that the tide is beginning to turn toward population health, especially as a more balanced perspective of the value ofpolygenic risk scores one of the most widely advocated innovations of the precision medicine movement is beginning to emerge.

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Viewpoint: Promise of genomics and precision medicine a 'wave of hype without substance' - Genetic Literacy Project

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Modern genetic tools are helping to control the most critical pig diseases – The Pig Site

Thursday, March 12th, 2020

Modern genetic technology has provided new tools to allow the use of genomic selection for disease resilience. Speaking to Farmscape, Dr John Harding, a Professor with the Western College of Veterinary Medicine, notes scientists have been looking at disease resilience or resistance for the last 20 to 30 years.

"One of the most historic examples that I can remember in my career is the identification of the halothane gene and how we've used it since the early 1990s to eliminate porcine stress syndrome from the pig industry," says Dr Harding.

"There are other examples of single mutations, including the FUT1 gene. It codes for E. coli and has been used to help control post weaning diarrhoea back 15 to 20 years ago.

"We see more recent examples which are really related more to resilience. That is the PRRS WUR SNP which codes for the GBP5 protein which has been used by some of the breeding companies to create animals that are more resilient to PRRS.

"There's a similar gene called synaptogyrin which has been used for PCV2 resilience now.

"We're not seeing that one in the industry quite yet but I'm sure it will come quickly and then we've got the whole aspect of gene editing with the Prather group editing out the CD163 gene, making pigs that are completely resistant to PRRS infection. That's very exciting.

"Whether that comes to market is another big question that the regulators and industry will have to struggle with over the next couple of years.

"More recently, what we're involved with is more general disease resilience and we have set up a project in Quebec to look at resilience to many diseases and that's through a natural challenge model system."

Dr Harding says scientists will continue their work so stay tuned.

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Modern genetic tools are helping to control the most critical pig diseases - The Pig Site

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