Category Archives: Genetic medicine

Coronaviruses, one of a variety ofviruses that cause colds, have been making people cough and sneeze seeminglyforever. But occasionally, a new version infects people and causes seriousillness and deaths.

That is happening now with the coronavirus that has killed at least 26 people and sickened at least 900 since it emerged in central China in December. The World Health Organization is monitoring the viruss spread to see whether it will turn into a global public health emergency (SN: 1/23/20).

Among the ill are two people in theUnited States who contracted the virus during travels in China. A Chicago womanin her 60s is the second U.S. case of the new coronavirus, the Centers forDisease Control and Prevention confirmed January 24 in a news conference.

Officials are currently monitoring 63people across 22 states for signs of the pneumonia-like disease, includingfever, cough and other respiratory symptoms. Of those people, 11 have testednegative for the virus. Two, including the newest case and anotherpatient in Seattle, tested positive, the CDC reported (SN: 1/21/20).

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France reported two cases on January 24as well, the first in Europe.

Much still remains unknown about the new coronavirus (SN: 1/10/20), which for now is being called 2019 novel coronavirus, or 2019-nCoV. Lessons learned from previous coronavirus outbreaks, including severe acute respiratory syndrome, or SARS, and Middle East respiratory syndrome, or MERS, may help health officials head off some of the more serious consequences from this virus outbreak.

Coronaviruses are round and surroundedby a halo of spiky proteins, giving them a resemblance to a crown or the sunswispy corona.

Four major categories, or genera, ofcoronavirus exist. Theyre known by the Greek letters alpha, beta, delta andgamma. Only alpha and beta coronaviruses are known to infect people. Theseviruses spread through the air, and just four types (known as 229E, NL63, OC43and HKU1) are responsible for about 10 to 30 percent of colds around the world.

What makes a virus a coronavirus is onlyloosely enshrined in its DNA. The coronavirus designation is less about thegenetics and more about the way it appears under a microscope, says Brent C.Satterfield, cofounder and chief scientific officer of Co-Diagnostics, acompany based in Salt Lake City and Gujarat, India, that is developingmolecular tests for diagnosing coronavirus infections.

Coronaviruses genetic makeup iscomposed of RNA, a single-stranded chemical cousin of DNA. Viruses in thefamily often arent very similar on the genetic level, with some types havingmore differences between them than humans have from elephants, Satterfieldsays.

The new viruss proteins are between 70and 99 percent identical to their counterparts in the SARS virus, says KarlaSatchell, a microbiologist and immunologist at Northwestern University FeinbergSchool of Medicine in Chicago.

Usually coronavirus illnesses are fairly mild, affecting just the upper airway. But the new virus, as well as both SARS and MERS, are different.

Those three types of betacoronavirusescan latch onto proteins studding the outside of lung cells, and penetrate muchdeeper into the airway than cold-causing coronaviruses, says Anthony Fauci,director of the U.S. National Institute of Allergy and Infectious Diseases inBethesda, M.D. The 2019 version is a disease that causes more lung diseasethan sniffles, Fauci says.

Damage to the lungs can make the virusesdeadly. In 2003 and 2004, SARS killed nearly 10 percent of the 8,096 people in29 countries who fell ill. A total of 774 people died, according to the WorldHealth Organization.

MERS is even more deadly, claiming about30 percent of people it infects. Unlike SARS, outbreaks of that virus are stillsimmering, Fauci says. Since 2012, MERS has caused 2,494 confirmed cases in 27countries and killed 858 people.

MERS can spread from person to person,and some superspreaders have passed the virus on to many others. Mostfamously, 186 people contracted MERS after one businessman unwittingly broughtthe virus to South Korea in 2015 and spread it to others. Another superspreaderwho caught MERS from that man passedthe virus to 82 people over just two days while being treated in a hospitalemergency room (SN: 7/8/16).

Right now, 2019-nCoV appears to be less virulent, with about a 4 percent mortality rate. But that number is still a moving target as more cases are diagnosed, Fauci says. As of January 23, the new coronavirus had infected more than 581 people, with about a quarter of those becoming seriously ill, according to the WHO. By January 24, the number of reported infections had risen to at least 900.

An analysis of the illness in the first41 patients diagnosed with 2019-nCoV from Wuhan, China suggests that the virusacts similarly to SARS and MERS. Like the other two, 2019-nCoV causespneumonia. But unlike those viruses, the new one rarelyproduces runny noses or intestinal symptoms, researchers report January 24in the Lancet. Most of the peopleaffected in that first group were healthy, with fewer than a third havingchronic medical conditions that could make them more vulnerable to infection.

Coronaviruses are zoonotic, meaning theyoriginate in animals and sometimes leap to humans. The first 2019-nCoV infectionsdetected in December were in patients who had visited the Huanan seafood marketin Wuhan. The market was closed January 1, but health officials have yet todetermine from which type of animal the virus jumped to humans.

Bats are often thought of as a source ofcoronaviruses, but in most cases they dont pass the virus directly on tohumans. SARS probably first jumped from bats into raccoon dogs or palm civetsbefore making the leap to humans. All the pieces necessary to re-create SARSare circulatingamong bats, though that virus has not been seen since 2004 (SN: 11/30/17).

MERS, meanwhile, wentfrom bats to camels before leaping to humans (SN: 2/25/14). A paper published January 22 in the Journal of Medical Virology suggeststhat the new coronavirus has components from bat coronaviruses, but that snakes may havepassed the virus to humans. But many virologists areskeptical that snakes are behind the outbreak (SN: 1/24/20).

It depends on the coronavirus, butneither SARS or MERS have been able to sustain human-to-human transmission theway influenza viruses can, Fauci says. Thats because the viruses havent fullyadapted to infect humans, and maybe they never will, he says.

Still, this is a family of viruses thatwas formerly just the common cold, he says. But now, in the last 18 years,weve had three examples of it jumping species and causing serious disease inhumans. He and colleagues wrote an article publishedJanuary 23 in JAMA to illustrate whatthey see as the growing threat from coronaviruses.

In Wuhan, the new coronavirus has beenable to transmit down a chain of up to four people, health officials said. Fivemembers of a family from Shenzhen, China caught the virus when they visitedinfected relatives in Wuhan, researchers report January 24 in the Lancet. Travelers have also carried thevirus from China to at least seven other countries, including the UnitedStates. No human-to-human transmission has yet been reported outside of China,the WHO said. All of the deaths have also been in that country.

Epidemiologists are franticallycalculating how infectious the new virus is, says Maimuna Majumder, acomputational epidemiologist at Boston Childrens Hospital and Harvard MedicalSchool.

The number that describes how manypeople a newly infected person is likely to pass a virus to is called R0,pronounced Rnaught (SN: 5/28/19). SARS, forinstance, had an R0 between two and five, meaning that in a fullysusceptible population an infected person could potentially spread the virus totwo to five others. (Highly contagious measles, in comparison, has a R0from 12 to 18.)

Estimates for the infectivity of the newvirus range from the WHOs estimate of 1.4 to 2.5 to a much bigger 3.6 to 4.0calculation from Jonathan Read of Lancaster University in England andcolleagues. Reads group estimates that only about5.1 percent of cases in Wuhan have been identified. The researchersreported the preliminary results January 24 at medRxiv.org.

Thats probably not because the Chinesegovernment is covering up how bad the outbreak is, Majumder says. Many peoplemay have had only mild symptoms or none at all. Those people probably wouldntgo to the doctor and get tested for the virus.

Majumder and Harvard colleague KennethMandl used a different method to calculate R0 for the new virus,estimating based on cases reported as of January 22 that its transmissibilityfalls from2.0 to 3.3. Their results were posted to SSRN on January 23.

Meanwhile, Christian Althaus and JulienRiou, both of the University of Bern in Switzerland, posted data to Githubsupporting their calculation that the new viruss infectivity is between 1.4 and 3.8. Each of thosecalculations was arrived at using different methods. While they are slightlydifferent, they overlap, and Majumder says shes reassured that the numbers aresimilar.

Similar infectivity to SARS doesnt meanthe new virus will spread like that one did.

Having SARS in [our] history can helpinform some these decisions that were going to make now. Back then, we wereless prepared than we are now, Majumder says.

For now, all doctors can do is treatsymptoms of the new disease. Researchers have also developed some experimentaltreatments based on SARS and MERS, including antibodies that may help combatthe infections, Fauci says.

Getting samples of the new virus mayallow researchers to develop monoclonal antibodies in the lab. Or scientistsmay be able to take immune B cells from people who already have recovered fromthe virus to produce antibodies to help other infected people.

Some antiviral medications have shown promise in treating MERS, and are being tested for their effectiveness against 2019-nCoV. Experimental vaccines, Facui wrote in JAMA, including some based on RNA, are also in the works.

Erin Garcia de Jesus contributed to reporting of this story.

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How the new coronavirus stacks up against SARS and MERS - Science News

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A never-before-seen virus detected in the Chinese city of Wuhan has claimed more than 50 lives and infected almost 2,000 Chinese citizens with a pneumonia-like illness, according to China's National Health Commission. The virus was first reported to the World Health Organization (WHO) on Dec. 31 and has been under investigation since. Chinese scientists have linked the disease to a family of viruses known as coronaviruses, which include the deadly SARS and Middle East respiratory syndrome (MERS).

On Friday, French authorities confirmed three cases inside the country, the first known cases in Europe. The same day, Australia announced its first confirmed case, and the US Centers for Disease Control and Prevention (CDC) announced a second case in the United States, this time in Chicago. There are now more than 60 patients under investigation for possible infection in over 20 US states, according toDr. Nancy Messonnier of the CDC. On Saturday, the State Department told employees at the US consulate in Wuhan to leave the city.

Scientists have yet to fully understand the destructive potential of the new virus, known as 2019-nCoV. Researchers and investigators are just beginning to figure out where it originated, how it's transmitted and how far it has spread.

As of Saturday, case numbers had skyrocketed to more than 1,900 in China and abroad. Chinese authorities also confirmed that health workers have been infected with the virus, suggesting that human-to-human transmission is possible.

Authorities are taking steps to guard against the spread of 2019-nCoV. On Thursday, a special WHO committee decided it was still too earlyto declare a public health emergency on a global level. On Saturday, though, Hong Kong declared a citywide emergency, its highest warning level, canceling all official Chinese New Year celebrations and extending school breaks for the holiday until Feb. 17. Also on Saturday, China said that starting Monday it would clamp down on travel for some of its citizens heading abroad, including suspending tour groups and temporarily halting the sale of flight and hotel packages.

The situation is rapidly evolving. We've collated everything we know about the mystery virus, what's next for researchers and some of the steps you can take to reduce your risk.

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Coronaviruses belong to a family known as Coronaviridae, and under an electron microscope they look like spiked rings. They're named for these spikes, which form a halo around their viral envelope.

Coronaviruses contain a strand of RNA in their envelope and can't reproduce without getting inside living cells and hijacking their machinery. The spikes on the viral envelope help them bind to cells, which gives them a way in. It's like blasting the door open with C4. Once inside, they turn the cell into a virus factory, using its molecular conveyor belt to produce more viruses, which are then shipped out. The virus progeny infect other cells and the cycle starts anew.

Typically, these types of viruses are found in animals ranging from livestock to household pets to wildlife such as bats. When they make the jump to humans, they can cause fever, respiratory illness and inflammation in the lungs. In immunocompromised individuals, such as the elderly or those with HIV-AIDS, such viruses can cause severe respiratory illness.

Extremely pathogenic coronaviruses were behind SARS (severe acute respiratory syndrome) and MERS and were easily transmitted from human to human. SARS, which showed up in the early 2000s, infected more than 8,000 people and resulted in nearly 800 deaths. MERS, which appeared in the early 2010s, infected almost 2,500 people and led to more than 850 deaths.

The virus appears to have originated in the Huanan Seafood Wholesale Market in Wuhan, a Chinese city about 650 miles south of Beijing that has a population of more than 11 million people. The market sells fish, as well as a panoply of meat from other animals, including bats and snakes. The Wuhan market was shut down Jan. 1.

Markets have been implicated in the origin and spread of viral diseases in past epidemics, and a large majority of the people so far confirmed to have come down with this coronavirus had been to the Huanan Seafood marketplace in recent weeks. The market seems like an integral piece of the puzzle, but researchers will need to conduct a range of experiments and tests to confirm the virus' origin.

"Testing of animals in the Wuhan area, including sampling from the markets, will provide more information," said Raina MacIntyre, a head of the biosecurity research program at the University of New South Wales' Kirby Institute.

On Wednesday, areport in the Journal of Medical Virology by a team of Chinese researchers suggested snakes were the most probable wildlife animal reservoir for 2019-nCoV. The work examined the genetic code of the virus and compared it with that of two types of snakes, the many-banded krait and the Chinese cobra. The research demonstrated that the snakes' genetic code displayed a high level of similarity with the virus.

Shortly after, two preprint studies refuted these claims, suggesting 2019-nCoV likely originated in bats.

"We haven't seen evidence ample enough to suggest a snake reservoir for Wuhan coronavirus (2019-nCoV)," said Peter Daszak, president of nonprofit EcoHealth Alliance, which researches the links between human and animal health.

"This work is really interesting, but when we compare the genetic sequence of this new virus with all other known coronaviruses, all of its closest relatives have origins in mammals, specifically bats. Therefore, without further details on testing of animals in the markets, it looks like we are no closer to knowing this virus' natural reservoir."

On Thursday, a group of Chinese scientists uploaded a paper to pre-print website biorXiV studied the viral genetic code and compared it to the previous SARS coronavirus and other bat coronaviruses. They discovered the genetic similarities run deep: The virus shares 80% of its genes with the previous SARS virus and 96% of its genes with bat coronaviruses. Importantly, the study also demonstrated the virus can get into and hijack cells the same way SARS did.

All good science builds off previous discoveries -- and there is still a lot to learn about the basic biology of 2019-nCoV before we have a good grasp of exactly which animal vector is responsible for transmission.

Authorities have confirmed more than 1,900 cases as of Saturday. The bulk are in China, with a total of 10 cases reported in Taiwan, Hong Kong and Macau. Internationally, a handful of cases have been confirmed in Thailand, Japan, South Korea and the US, where aman in his 30s in Washington state and a woman in her 60s in Illinoiswere confirmed to have the disease. Further spread was confirmed Friday, with Australia announcing four cases and France announcing three. Canadian authorities announced its first 'presumptive' case on Saturday, a male in his 50s who had traveled through Wuhan.

Here's the breakdown as it stands:

You can track the spread of the virus with this handy online tool, which is collating data from a number of sources including the CDC, WHO and Chinese health professionals. (Note: There may be differences in our reports and the tracking tool)

National authorities in China continue to monitor more than 1,300 residents who visited the Wuhan market or have had prolonged contact with those presenting symptoms of the disease.

The death toll stands at 42.

Thefirst reported death in Hubei province was a 61-year-old manwho'd frequented the Wuhan market and had chronic liver disease and abdominal tumors.The second was a 69-year-old manwho went to a hospital with severe damage to multiple organs.

The virus has taken two lives outside the Hubei epicenter -- one person in Hebei province, more than 600 miles north of Wuhan, and another in Heilongjiang province, which is more than 1,500 miles from Wuhan and near the Russian border.

A study,published by the Imperial College London on Jan. 17, estimates the total number of 2019-nCoV cases could be much higher than reported, reaching over 1,700 cases. The work, led by Neil Ferguson, calculated how far the virus is likely to spread based on its incubation period and the amount of travel in and out of Wuhan since it was first detected.

A pedestrian in the city of Wuhan, China. The virus appears to have originated in Wuhan's Huanan Seafood Wholesale Market.

In short, science.

The Chinese Center for Disease Control and Prevention dispatched a team of scientists to Wuhan to gather information about the new disease and perform testing in patients, hoping to isolate the virus. Their work, published in the New England Journal of Medicine on Jan. 24, examined samples from three patients. Using an electron microscope, which can see in nanometers, and studying the genetic code, the team were able to visualize and genetically identify the novel coronavirus for the first time.

Understanding the genetic code helps researchers in two ways: It allows them to create tests that can identify the virus from patient samples, and it gives them potential insight into creating treatments or vaccines.

This is one of the major questions researchers are working hard to answer. Though the first infections were potentially the result of animal-to-human transmission, it's likely that human-to-human transmission has followed.

On Monday, the University of Minnesota's Center for Infectious Disease Research and Policy reported thathealth workers in China had been infected with the virus. During the SARS epidemic this was a notable turning point, as health workers moving between countries spread the disease.

Chinese authorities have since confirmed that health workers have been infected with the virus, suggesting human-to-human transmission.

"The major concern is hospital outbreaks, which were seen with SARS and MERS coronaviruses," MacIntyre said. "Meticulous triage and infection control is needed to prevent these outbreaks and protect health workers."

In Wuhan, authorities are rushing to build a thousand-bed hospital to treat coronavirus patients as the province struggles with hospital bed shortages. It's aiming to open the facility on Feb. 3, giving construction workers 10 days to get it ready.

China hasshut down Wuhanto reduce the spread of the virus, canceling transportation leaving the city starting at 10 a.m. Thursday. The travel restrictions wereextended to four other cities (Huanggang, Ezhou, Chibi and Zhijiang) later that day, and constraints were announced in eight more cities on Friday -- impacting more than 35 million people.

The restrictions come during a busy travel period for China, when citizens typically travel for the Lunar New Year. Major public events Chinese capital Beijing have been canceled, and both Beijing's Forbidden City and Shanghai's Disneyland said they'd close from Saturday. All of the restrictions and closures will last indefinitely.

An electron microscopy image of the coronavirus that causes SARS.

Tedros Adhanom Ghebreyesus, the director-general of the World Health Organization, convened an emergency committee on Wednesday to determine whether this new virus constitutes a public health emergency.

"There was an excellent discussion during the committee today, but it was also clear that to proceed, we need more information," Ghebreyesus said during a press conferenceWednesday. A full replay of the press conference is below.

The emergency committee reconvened Thursday to continue to discuss the outbreak. On Thursday, the committee decided that it was still too early to declare a public health emergency.

"If WHO declares a public health emergency of international concern, it enables WHO greater powers for disease control using the International Health Regulations," MacIntyre said.

In the fall, anemergency committee met regarding the ebola virus epidemic in the Democratic Republic of the Congo. The meeting outlined key strategies and commitments to strengthen and protect against the spread of the disease.

The new coronavirus causes symptoms similar to those of previously identified disease-causing coronaviruses. In currently identified patients, there seems to be a spectrum of illness: A large number experience mild pneumonia-like symptoms, while others have a much more severe response.

On Jan. 24, prestigious medical journal The Lancet published an extensive analysis of the clinical features of the disease.

According to the report, patients present with:

Less common symptoms of coronavirus include:

As the disease progresses, patients also come down with pneumonia, which inflames the lungs and causes them to fill with fluid. This can be detected by an X-ray and was present in all 41 cases studied.

Coronaviruses are notoriously hardy organisms. They're effective at hiding from the human immune system, and we haven't developed any reliable treatments or vaccines that can eradicate them. In most cases, health officials attempt to deal with the symptoms.

"There is no recognized therapeutic against coronaviruses," Mike Ryan, executive director of the WHO Health Emergencies Programme, said during the Emergency Committee press conference Wednesday. "The primary objective in an outbreak related to a coronavirus is to give adequate support of care to patients, particularly in terms of respiratory support and multi-organ support."

That doesn't mean vaccines are an impossibility, however. Chinese scientists were able to sequence the virus' genetic code incredibly quickly, giving scientists a chance to study it and look for ways to combat the disease. According to CNN, researchers at the US National Institutes of Health are already working on a vaccine, though it could be a year or more away from release.

Notably, SARS, which infected around 8,000 people and killed around 800, seemed to run its course and then mostly disappear. It wasn't a vaccine that turned the tide on the disease but rather effective communication between nations and a range of tools that helped track the disease and its spread.

"We learnt that epidemics can be controlled without drugs or vaccines, using enhanced surveillance, case isolation, contact tracking, PPE and infection control measures," MacIntyre said.

With confirmed cases now seen in the US, Thailand, Japan, South Korea and potentially Australia, it's possible that 2019-nCoV could be spreading much further afield. The WHO recommends a range of measures to protect yourself from contracting the disease, based on good hand hygiene and good respiratory hygiene -- in much the same way you'd reduce the risk of contracting the flu.

Meanwhile, the US State Department has issued a travel advisory, urging people to "exercise increased caution in China." Awarning from the CDC advises people to "avoid nonessential travel."

A Twitter thread, developed by the WHO, is below.

This story was originally published Jan. 19 and is updated frequently as new information becomes available.

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Coronavirus death toll rises to 56, cases approach 2,000: Everything we know - CNET

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

What they will never forget is when everything changed.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

43.038902-87.906474

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

VANCOUVER, Washington, Jan. 21, 2020 (GLOBE NEWSWIRE) -- CytoDyn Inc. (CYDY), (CytoDyn or the Company"), a late-stage biotechnology company developing leronlimab (PRO 140), a CCR5 antagonist with the potential for multiple therapeutic indications, announced today that Alan P. Timmins, former President, Chief Operating Officer, and Board Member of Sarepta Therapeutics, Inc., a Nasdaq-listed company,has joined its board of directors as an independent director and chair of the boards Audit Committee.

Timmins brings a wealth of financial and operations experience to CytoDyns board. He previously served 16 years in various positions including President, Executive Vice President, Chief Operating Officer and Chief Financial Officer of Sarepta Therapeutics, Inc., a publicly traded life sciences technology company focused on precision genetic medicine. His leadership and drive contributed to a period of significant growth and he led several of the companys strategic, financing, M&A and out-licensing activities. He is currently the Vice President for Financial Affairs at the University of Portland, a position he has served in for over 8 years, focusing on all financial functions and on strategic planning and implementation across the organization. Earlier in his career, Timmins was a Senior Manager at PriceWaterhouseCoopers in the audit practice.

Timmins has also served as a member of boards of directors and as a volunteer for several public, private and not-for-profit companies, providing support in the areas of finance, business development, strategy, operations management and career planning, as well as doing guest lectures and seminars for area graduate and undergraduate students.

Over the course of his career, Alan has led major growth initiatives he was a key member of the team that built Sarepta Therapeutics into the company is it today, negotiating major commercial and governmental contracts, raising approximately $250 million, completing a strategic acquisition, and finalizing two out-licensing transactions,said Scott Kelly, M.D., CytoDyns Chairman of the Board. Alan has accumulated an impressive array of strategic, financial and commercial achievements and has demonstrated his ability to be a successful and trusted leader. His breadth of experience will be instrumental to the Audit Committee and to CytoDyn as a whole.

I am pleased to be joining the CytoDyn board of directors at this important time in the Companys development, said Timmins. Helping the Company reach its considerable potential in the important therapeutic areas of HIV, cancer and immunology will be a worthy and challenging goal, and I look forward to assisting management and the board in reaching that goal.

Scott Kelly, M.D. added, I would like to extend my sincerest gratitude to Michael Klump for serving on the board of directors of CytoDyn. Michael provided us with invaluable guidance and vision at a critical time for our company. Michael remains an ardent supporter of the science of CytoDyn and a significant investor. While Michaels increasing business responsibilities drove his decision to step down from our board, I am thrilled that he will remain an advisor to both the CEO and Chairman of the Board.

About Leronlimab (PRO 140)Leronlimab (PRO 140) is a humanized IgG4 monoclonal antibody that blocks CCR5, a cellular receptor that plays multiple roles with implications in HIV infection, tumor metastasis, and immune signaling.

In the setting of HIV/AIDS, leronlimab belongs to a new class of therapeutics called viral-entry inhibitors; it masks CCR5, thus protecting healthy T cells from viral infection by blocking the predominant HIV (R5) subtype from entering those cells. At the same time, leronlimab does not appear to interfere with the normal function of CCR5 in mediating immune responses. Leronlimab has been the subject of seven clinical trials, each demonstrating efficacy by significantly reducing or controlling HIV viral load in human test subjects. Leronlimab has been designated a fast track product by the FDA. The leronlimab antibody appears to be a powerful antiviral agent leading to potentially fewer side effects and less frequent dosing requirements compared with daily drug therapies currently in use.

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In the setting of cancer, research has shown that CCR5 plays a central role in tumor invasion and metastasis and that increased CCR5 expression is an indicator of disease status in breast cancer. Moreover, researchers have shown that drugs that block CCR5 can block tumor metastases in laboratory and animal models of aggressive breast and prostate cancer. CytoDyn is conducting additional research with leronlimab in the cancer setting and has initiated a Phase 1b/2 human clinical trial, as recently approved in 2018 by the FDA.

The CCR5 receptor also plays a central role in modulating immune cell trafficking to sites of inflammation and it is crucial for the development of acute graft-versus-host disease (GvHD) and other inflammatory conditions. Clinical studies by others have shown that blocking CCR5 using a chemical inhibitor can reduce the clinical impact of acute GvHD without significantly affecting the engraftment of transplanted bone marrow stem cells. CytoDyn is currently conducting a Phase 2 clinical study with leronlimab to further support the concept that the CCR5 receptor on engrafted cells is critical for the development of acute GvHD and that blocking this receptor from recognizing certain immune signaling molecules is a viable approach to mitigating acute GvHD. The FDA has granted orphan drug designation to leronlimab for the prevention of GvHD.

About CytoDynCytoDyn is a biotechnology company developing innovative treatments for multiple therapeutic indications based on leronlimab, a novel humanized monoclonal antibody targeting the CCR5 receptor. CCR5 appears to play a key role in the ability of HIV to enter and infect healthy T-cells. The CCR5 receptor also appears to be implicated in tumor metastasis and in immune-mediated illnesses, such as GvHD and NASH. CytoDyn has successfully completed a Phase 3 pivotal trial with leronlimab in combination with standard anti-retroviral therapies in HIV-infected treatment-experienced patients. CytoDyn plans to seek FDA approval for leronlimab in combination therapy and plans to complete the filing of a Biologics License Application (BLA) in the first quarter of 2020 for that indication. CytoDyn is also conducting a Phase 3 investigative trial with leronlimab (PRO 140) as a once-weekly monotherapy for HIV-infected patients and, plans to initiate a registration-directed study of leronlimab monotherapy indication, which if successful, could support a label extension. Clinical results to date from multiple trials have shown that leronlimab (PRO 140) can significantly reduce viral burden in people infected with HIV with no reported drug-related serious adverse events (SAEs). Moreover, results from a Phase 2b/3 clinical trial demonstrated that leronlimab monotherapy can prevent viral escape in HIV-infected patients, with some patients on leronlimab monotherapy remaining virally suppressed for more than five years. CytoDyn is also conducting a Phase 2 trial to evaluate leronlimab for the prevention of GvHD and a Phase 1b/2 clinical trial with leronlimab in metastatic triple-negative breast cancer. More information is at http://www.cytodyn.com.

Forward-Looking StatementsThis press releasecontains certain forward-looking statements that involve risks, uncertainties and assumptions that are difficult to predict. Words and expressions reflecting optimism, satisfaction or disappointment with current prospects, as well as words such as believes, hopes, intends, estimates, expects, projects, plans, anticipates and variations thereof, or the use of future tense, identify forward-looking statements, but their absence does not mean that a statement is not forward-looking. The Companys forward-looking statements are not guarantees of performance, and actual results could vary materially from those contained in or expressed by such statements due to risks and uncertainties including: (i)the sufficiency of the Companys cash position, (ii)the Companys ability to raise additional capital to fund its operations, (iii) the Companys ability to meet its debt obligations, if any, (iv)the Companys ability to enter into partnership or licensing arrangements with third parties, (v)the Companys ability to identify patients to enroll in its clinical trials in a timely fashion, (vi)the Companys ability to achieve approval of a marketable product, (vii)the design, implementation and conduct of the Companys clinical trials, (viii)the results of the Companys clinical trials, including the possibility of unfavorable clinical trial results, (ix)the market for, and marketability of, any product that is approved, (x)the existence or development of vaccines, drugs, or other treatments that are viewed by medical professionals or patients as superior to the Companys products, (xi)regulatory initiatives, compliance with governmental regulations and the regulatory approval process, (xii)general economic and business conditions, (xiii)changes in foreign, political, and social conditions, and (xiv)various other matters, many of which are beyond the Companys control. The Company urges investors to consider specifically the various risk factors identified in its most recent Form10-K, and any risk factors or cautionary statements included in any subsequent Form10-Q or Form8-K, filed with the Securities and Exchange Commission. Except as required by law, the Company does not undertake any responsibility to update any forward-looking statements to take into account events or circumstances that occur after the date of this press release.

CONTACTSMedia:Grace FotiadesLifeSci Communicationsgfotiades@lifescicomms.com(646) 876-502

Investors: Nader Pourhassan, Ph.D.President & CEOnpourhassan@cytodyn.com

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CytoDyn Appoints Alan Timmins as New Independent Director and Chair of the Audit Committee - Yahoo Finance

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

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

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

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

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

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

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

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

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

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

Maya23K / iStock

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

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

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

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

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

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

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

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

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

The researchers also did not control for age or gender.

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

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

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

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

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

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

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

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Autistic people have increased incidence of neurological problems - Spectrum

KING OF PRUSSIA, Pa., Jan. 22, 2020 /PRNewswire/--The Discovery Labs and Deerfield Management Company have formed The Center for Breakthrough Medicines, a Contract Development and Manufacturing Organization (CDMO) and specialty investment company, to alleviate the critical lack of capacity that is preventing patients from accessing critically needed cell and gene therapies. The CDMO is occupying over 40 percent of The Discovery Labs' 1.6 million square foot biotech, healthcare and life sciences campus in King of Prussia, PA.

The CDMO provides preclinical through commercial manufacturing of cell and gene therapies and component raw materials. It offers process development, plasmid DNA,viral vectors, cell banking, cell processing, and support testing capabilities all under one roof. The immense $1.1 billion facility will provide instant capacity as the largest known single source for accelerating the delivery and affordability of lifesaving and life-changing therapies from the bench to the patient's bedside.

The Company has initiated a substantial hiring effort targeting the best and brightest of the life sciences community including, experts in CGMP manufacturing. The Company expects to hire over 2,000 team members within the next 30 months.

The CDMO has retained Nucleus Careers, a cloud-based specialty life sciences human capital recruiting and retention management expert, to buildout the entire team. Nucleus has proprietary recruiting and retention software designed for large scale human capital buildouts of high growth companies.

In addition to developing the world's largest single-point cell and gene therapy manufacturing facility, The Discovery Labs is establishing THE COLONY which will provide custom built discovery labs, breakthrough funding, sponsored research agreements, housing and relocation for the world's leading iconic experts in cell and gene therapy.

THE COLONY will seek to work hand in hand with scientists from both academic and pharmaceutical institutions to unlock and expedite groundbreaking therapies.

Marco A. Chacn, Ph.D., Founder of Paragon Bioservices and Chairman of The Discovery Labs states, "musicians, artists, members of religious communities and great thinkers throughout time have formed colonies where freedom of thought and expression combined with unlimited dreams and potential have resulted in the world's greatest accomplishments." Dr. Chacn went on to say, "the goal of THE COLONY is to unshackle the potential of the world's greatest scientific minds."

The ability for the industry's greatest scientists to cohabitate, collaborate, cooperate, and communicate via technology and in person will create an exponential therapeutic "X FACTOR." THE COLONY seeks to unlock institutional barriers prohibiting the world's greatest scientists from moving at a pace necessary in today's ever-changing therapeutic revolution. THE COLONY will partner with the institutions where the scientists currently work by providing equity, license fees, and revenue sharing.

"The Center for Breakthrough Medicines will be serving companies from the earliest stages through commercialization. Its exceptional scale and offering will quickly relieve the production bottleneck for advanced therapies by reducing the time, complexity, and cost of commercializing vitally needed gene and cell therapies," noted Audrey Greenberg, Board Member and Executive Managing Director for The Discovery Labs.

The addition of this end-to-end manufacturing capability is expected to significantly enhance the offerings of The Discovery Labs in an area that has become one of the largest life sciences hubs in the world. Renovations are underway to construct a total of 86 plasmid, viral vector production, universal cell processing, CGMP testing, process development and cell banking suites. The viral vector and cell processing suites will be fully compliant with both U.S. Food and Drug Administration and European Medicines Agency standards. All suites will offer the flexibility to meet client-specific workflows and will be able to adapt quickly to meet demand. The Company is in the process of reserving capacity now for late 2020.

"Today brilliant scientists are advancing an unprecedented number of gene and cell therapy drug candidates. The real tragedy, however, is a scarcity of manufacturing know-how, which is complex and expensive," said Alex Karnal, Partner and Managing Director of Deerfield Management and a Board Member of the Discovery Labs. "With its visionary business model, it is hoped that The Center for Breakthrough Medicines will help realize the promise of cell and gene therapies in time to treat the many patients who need them."

The Discovery Labs provides a central campus where the world's greatest scientists can collaborate on new therapeutic discoveries to eradicate diseases affecting small and large segments of the global population. The Center for Breakthrough Medicines will work with these leaders, life sciences companies, large pharmaceutical companies, and academic and government institutions.

This new manufacturing capability is a transformational addition to The Discovery Labs market offering and dovetails with The Discovery Labs biotech incubator, Unite IQ. Unite IQ offers immediate space to emerging life sciences companies and scientists giving them the ability to grow from startup to enterprise company on one campus. The incubator and accelerator space at Unite IQ provides a comprehensive home for startups with every resource needed to initiate business operations. Unite IQ tenants are expected to utilize the discovery, development, testing, and manufacturing capabilities of the Center for Breakthrough Medicines with seamless forward integration of processes and analytics, and seamless tech transfer from research lab to large scale production

The Emerging Field of Cell and Gene Therapy in Pennsylvania

The demand for clinical and commercial manufacturing capacity is acute and expected to remain that way. The current shortfall in manufacturing for cell and gene therapies is severely underserved with few approved products. There are currently approximately 1,100 advanced therapies in the pipeline pending FDA approval. This will greatly increase highly skilled manufacturing demand. Dr. Peter Marks, Director of the FDA Center for Biologics Evaluation and Research, states, "what keeps me up at night is will we be able to manufacture these on a scale that will allow us to bring the benefit of these therapies to patients?"He further added that "if we can help see cost of goods and ability to manufacture reproducibly improve, I think that'll be a big thing."All of this adds up to a supply constrained market that The Center for Breakthrough Medicines aims to help address.

With the potential to treat and even cure disabling, and deadly diseases, gene and cell therapies are ushering in a new era of medicine. These therapies may eventually be able to cure genetic conditions, such as cystic fibrosis, hemophilia A, and a range of cancers. The Philadelphia area has become the epicenter for the flourishing field of gene and cell therapy. Research from CBRE currently ranks the market among the top biotech clusters for medical research and health services. The cluster has become known worldwide as "Cellicon Valley"for its leadership in research and development of this rapidly evolving field. The Discovery Lab's suburban Philadelphia location offers a talent rich environment due to the area's preponderance of large pharmaceutical companies and the Philadelphia region's position boasting the top 10 universities and primary school systems in nation.

Over the past three years, multiple Philadelphia companies have received approvals for major breakthroughs in cell and gene therapy. In 2017, the U.S. FDA approved the first-ever CAR-T cell therapy, Novartis's Kymriah, which originated at the University of Pennsylvania. Shortly thereafter, the FDA gave landmark approval for the first-ever gene therapy to treat a genetic blindness condition to Spark Therapeutics, a start-up founded by researchers at Children's Hospital of Philadelphia. These discoveries and others in the pipeline are attracting billions of dollars of venture capital. The Greater Philadelphia Region set a recent record in venture capital financing.

The Discovery Labs Center for Breakthrough Medicines joins more than 25 healthcare, life sciences and tech-enabled companies that already call The Discovery Labs King of Prussia home.

Brian O'Neill, Founder of The Discovery Labs Center for Breakthrough Medicines, and Tony Khoury, Board Member of The Discovery Labs and Engineer at Project Pharma, will be speaking at the 2020 PhacilitateWorld Stem Cell Summit discussing The Future of Gene Therapy Manufacturing at 4 p.m. today at the Hyatt Regency in Miami, Florida.

Contact Audrey Greenberg at agreenberg@thediscoverylabs.com for more information about development services, manufacturing capacity, incubator space or leasing information at the property.

About The Discovery LabsPart of MLP Ventures, The Discovery Labs is a global provider of world-class cGMP manufacturing, turnkey laboratory solutions, critical materials and office space that support therapeutic products and services to the biotechnology and pharmaceutical industry so that groundbreaking medicines get to the patients that need them. The location in eastern King of Prussia is a prototype for a global rollout of The Discovery Labs, providing Big Pharma, emerging life sciences, consumer and technology companies flexible, end-to-end technical real estate and business infrastructure for the customer's entire lifecycle from discovery to delivery, including manufacturing capacity. It is the first fully integrated environment that merges technology and life sciences under one roof to drive innovation.

About Deerfield Management

Deerfield is a healthcare investment management firm committed to advancing healthcare through investment, information and philanthropy.

Media Contact:Tony DeFazio, DeFazio Communications(o) 484-534-3306 (c) 484-410-1354tony@defaziocommunications.com

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The Center for Breakthrough Medicines is Building the World's Largest Cell and Gene Therapy Contract Development and Manufacturing Organization (CDMO)...

22nd January 2020

Categories: Latest News

A new method undergoing trial in Manchester could save newborns from permanent deafness with a simple cheek swap, sparing more than 180 babies profound hearing loss a year and could save the NHS millions, reports award-winning health writer and Guardian contributor, Rachel Pugh.

The swab means that nurses can identify whether a premature baby would be genetically predisposed to being left deaf after treatment with gentamicin, a life-saving antibiotic used to treat 90,000 newborns a year. Guidelines say a baby should have gentamicin administered within an hour, though researchers have known for 25 years that the antibiotic could lead to deafness caused by a genetic variant which affects 1 in 500 people. Testing for it has traditionally taken days.

But now, in just 20 minutes a nurse working alone can establish, by placing cells from a babys cheek swab into a into a PC-sized molecular-diagnostic bedside machine, whether their infant patient has the genetic variant which rules out using gentamicin and if so to prescribe an alternative drug instead.

The test, which already has Health Research Authority, CE and ethical approval, has just started trials in neonatal intensive care units at St Marys Childrens Hospital Manchester and Liverpool Womens Hospital. Used across the NHS, it could save more than 180 babies a year from going deaf as a result of gentamicin.

Bill Newman, professor of Translational Genomic Medicine at the University of Manchester who is leading the trial, says that the technology could be used in future to identify how patients are affected by other drugs. Mr Newman whose team includes the developers of the testing equipment genedrive plc and parents of children treated in NICUs said:

Successful implementation of the gentamicin test will be a first in the integration of a rapid decision-making, genetic-based diagnostic in the UK NHS. It opens the door to getting much better outcomes for a number of other diseases too now that the test is out there.

In addition to saving families from the emotional anguish of a diagnosis of profound deafness, the success of the Pharmacogenetics to Avoid Loss of Hearing (PALoH) study will save the NHS an estimated 5m every year (including the cost of the test) in cochlear implantations and other hospital costs, according to health economists making up part of the team.

The Genedrive test costs around 60 per baby at the moment and was developed by the Manchester-based medical equipment company genedrive plc, in collaboration with Mr Newmans team. The development research took place at Manchester Biomedical Research Centre with 900,000 in funding from the National Institute for Health Research (NIHR) and support from the charity Action on Hearing Loss.

Mr Newman is convinced that the successful implementation of this trial will open the door to early detection of more common conditions. His team is already working with genedrive plc on a similar rapid bedside test for stroke patients to detect the one in 10 patients whose DNA makes them unable to metabolise clopidogrel, the common anti-platelet medication, and therefore have significantly worse outcomes. Models suggest similar tests could prevent several thousand of the 100,000 strokes suffered by people each year in the UK. It also opens up the possibility of using pharmacogenetics testing more widely by using biomarkers to target treatments more appropriately.

Mr Newman said:

It raises the long term possibility of developing a series of tests which might be given to everyone at the age of maybe 40 or 50 (when people start to develop health problems) to look at various genes that we know to be linked to specific drug outcomes. Health passports linked to electronic patient records might then be developed that contain information such as codeine does not work for this patient.

If the PALoH trial is successful, it could be rolled out across the NHS within a year, under National Institute for Health and Care Excellence (Nice) guidance. There is also interest in the bedside test from Australia, the USA, Israel and the Netherlands.

Health secretary Matt Hancock recently revealed ambitious plans for the NHS to introduce a form of DNA testing called whole exome sequencing for a range of inherited conditions at birth, to reduce their impact. It has currently been tried on 80 babies, and can provide a diagnosis in days rather than weeks.

Source: The Independent

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Manchester leading the way in the world's first emergency genetic test - Invest in Manchester

SAN FRANCISCO, Jan. 23, 2020 /PRNewswire-PRWeb/ -- ixLayer, a San Francisco based start-up is launching a first of its kind platform to simplify the complex relationship between precision health tests, physicians, and patients. The platform is the culmination of two years spent working closely with health systems, clinical laboratories, physicians, and patients. The venture backed company is funded by Health-tech focused firms such as Pear VC, FundRx, Village Global, and Maky Zanganeh & Associates.

"There has been a heavy focus on enabling direct to consumer genomics over the last couple of years, but we cannot forget that most of this testing is still being ordered in a clinic. We are now taking our expertise creating patient centric products within genomics and digitizing processes associated with ordering this complex testing in clinics. We want to make sure that both physicians and patients are at the center of everything we build." says CEO of ixLayer Pouria Sanae.

True to its name, the value of the platform is to be the "layer" of technology that brings together the key components needed to simplify the ordering and delivery of complex test results. These components include direct integrations into laboratories, on-demand genetic counseling services, integrations into electronic health records, patient engagement tools, and digital representation of patient health data.

The goal of the platform is to remove barriers to the adoption of precision medicine and speed up the launch and delivery of new diagnostic tools.

Current use cases of the platform include:

1. Providing an easy way for community physicians to work in partnership with labs to enroll patients into research studies involving diagnostic testing. The platform removes the burden of enrollment, patient education, sample collection, etc. from the physicians plate and gives the laboratory a dashboard with insight into what is happening at each site. This flow can also be used for enrolling patients into clinical trials and maintaining patient engagement, all through their patient portal.

2. Enabling large scale population health projects to roll out quickly without putting the burden of building infrastructure on the institution. The platform can easily engage community members and accelerate research and disease prevention at scale. By integrating with the health system electronic health record, the platform enables results from tests ordered virtually to be available directly to physicians.

3. Simplifying the process by which patients with rare diseases are engaged and identified. Many therapies today are based on biomarker testing which is typically only available in a physician's office. The ixLayer platform can be integrated into any patient website and walk a patient through the entire testing process. The platform is integrated with comprehensive physician and counseling services, who can then help triage that patient into local care for treatment.

ixLayer is partnering with the Innovation Institute and Invenio Genetics to streamline the delivery of genetic testing and results to its members. The first hospital to roll out testing on the ixLayer platform is Avera Health. Through ixLayer, Avera will offer genetic testing to over one million members.

"The most exciting part of this program is that these tests can be ordered online by physicians and results returned through the electronic record. Results will be available to patients and physicians to guide clinical care" says Joe Randolph CEO of Innovation Institute. "We saw a lot of precision medicine programs being launched in the market and realized one that recognized the patient and physician relationship is the best way to ensure appropriate patient care."

Looking forward, ixLayer is laser focused on improving the delivery of diagnostic testing. Whether testing is being offered through population health programs, the patient's physician, a consumer test, or a research study, ixLayer strives to provide optimal user experiences and transparency, "We want the platform to be a catalyst for dramatic change in the industry, getting patients engaged, and improving outcomes," Says Sanae.

Potential partners who are interested in learning more about how ixLayer is digitizing the ordering and delivery of precision health testing can visit:ixlayer.com/precision-health-testing platform-announcement

About ixLayer: Ixlayer powers the delivery of precision health testing for physicians, health systems, health focused companies, and pharmaceutical partners. The end to end solution brings together all of the components needed to deliver complex testing and results to patients. We are committed to improving outcomes and removing barriers to the access of precision medicine. For more information on Innovation Institute, please visit: ixlayer.com

About Innovation Institute: The Institute supports medical device innovation through its Innovation Lab where medical device and healthcare innovation solutions are developed. We also raise medical innovation funding to take the most important medical and healthcare innovations to the healthcare marketplace. We encourage innovators to submit their invention ideas to our Innovation Lab for cultivation. Our healthcare innovation experts provide the healthcare innovation support needed for success. The Lab sets forth local and global healthcare challenges to serve as facilitators of world healthcare innovation or world medical innovation.For more information on Innovation Institute, please visit: ii4change.com

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ixLayer launches first-of-its-kind precision health testing platform to improve delivery of diagnostic testing - Benzinga