This week Summerville Medical Center is celebrating the one year anniversary of consolidating obstetric and neonatal services across Trident Health system to one location at Summerville Medical Center.

We are honored to continue providing excellent care to our Lowcountry families close to home. said Dr. Beth Cook, Womens Services Medical Director for Summerville Medical Center and a local OB/GYN.

Combining more than 170 highly qualified clinicians and board-certified physicians, a comprehensive range of services for women and children, and facility resources onto one campus signaled a landmark moment for the health system in caring for Lowcountry women and children.

In the last year, the hospital has delivered more than 2,700 babies, including 36 sets of twins, and cared for more than 400 babies in the hospitals Level II neonatal ICU (NICU).

In the 26 years Summerville Medical Center has been open, we have been embraced by our community, said Dr. Beth Cook.

In 2018, Summerville Medical Center completed a $53 million womens and neonatal expansion in advance of the consolidation that provides patients with the highest quality care and the comforts of home. The new unit features a two story tower with 30 private postpartum rooms, 12 labor and delivery rooms, a 16-bed Level II neonatal ICU, Emergency Department OB suite, C-section suite, and more than $10 million in state-of-the-art technology.

Summerville Medical Center is proud to be the only Lowcountry hospital offering NICView technology, a 24/7 secure feed for families to watch their baby on any electronic device. Other additions such as wireless fetal monitoring and 55 Apple TVs in patient rooms provides families with the comforts of home while being in the hospitals care. In addition, the hospital provides families with special touches to celebrate the occasion with a celebratory meal for mom and partner, including sparkling grape juice in champagne flutes, a high end bath robe for mom, and a special raised on sweet tea and sunshine for their little one.

The hospital also has a Maternal Fetal Medicine Clinic that provides care for high risk expecting moms on their pregnancy journey, as well as genetic counseling and fertility services for women considering starting a family. The Maternal Fetal Medicine Clinic cared for more than 1,000 families in the last year.

We are experiencing significant growth in the Lowcountry, commented Angel Bozard, AVP of Womens & Childrens Services at Summerville Medical Center. As a result, Summerville Medical Center is committed to continue growing our facility, our services and our team so that moms and babies can receive excellent care in their own community. We are honored to have the most experienced providers of maternity and newborn care here at Summerville Medical Center.

Take a virtual tour of the new unit at http://www.TridentHealthsystem.com/momandbaby.

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Summerville Medical celebrates 1 year anniversary of obstetric consolidation - Journalscene.com

HIV, shown here budding from cell, remains stubbornly resistant to cure strategies because its DNA can lie silently in host chromosomes for years.

By Jon CohenJul. 7, 2020 , 9:00 AM

A 36-year-old man in Brazil has seemingly cleared an HIV infectionmaking him the proof of principle in humans of a novel drug strategy designed to flush the AIDS virus out of all of its reservoirs in the body. After receiving an especially aggressive combination of antiretroviral (ARV) drugs and nicotinamide (vitamin B3), the man, who asks to be referred to as the So Paulo Patient to protect his privacy, went off all HIV treatment in March 2019 and has not had the virus return to his blood.

The patients story is remarkable, says Steven Deeks, an HIV/AIDS clinician at the University of California, San Franciscowho was not involved with this study. But he and others, including the study leaders, caution that the success hasnt been long or definitive enough to label it a cure. Interesting anecdotes have long driven the HIV cure field, and they should be considered largely as hypothesis-generating observations that can simulate new areas of investigation, says Deeks, who also conducts HIV cure research.

Most people who suppress HIV with ARVs and later stop treatment see it come racing back to high levels within weeks. Not only did the So Paulo Patient not experience a rebound, but his HIV antibodies also dropped to extremely low levels, hinting at the possibility he may have cleared infected cells in the lymph nodes and gut.

Ricardo Diaz of the Federal University of So Paulo, the clinical investigator running the study, says he doesnt know whether the patient is cured. He has very little antigen, Diaz says, referring to HIV proteins that trigger the production of antibodies and other immune responses. But he notes his team has not sampled the mans lymph nodes or gut for the virus since he stopped treatment. Diaz discussed the patient today at a press conference for AIDS 2020, the 23rd International AIDS Conference taking place virtually this week, and he plans to present the study in full tomorrow.

Only two people are known to have been cured of their HIV infections:Timothy Ray Brown and a man who has asked to be referred to as the London Patient; both received bone marrow transplants as part of a treatment for cancers. The transplants cleared their infections and gave them new immune systems that resist infection with the virus. But bone marrow transplants are expensive, complicated interventions that can have serious side effects, making them an impractical cure for the 38 million people now living with the AIDS virus.

Other potential HIV cure cases have received intense media attention only to see the virus return after prolonged absences. Most soberingly, a baby in Mississippi who started ARVs shortly after birth stopped treatment at 18 months and was thought to be cured until the virus suddenly resurfaced more than 2 years later. Several adults who had bone marrow transplants and appeared to have been cured were not.

HIV has proven particularly difficult to eliminate because the virus weaves its genetic material into human chromosomes, where it can lie dormant, escaping the immune surveillance that typically eliminates foreign invaders. These silently infected cells may persist, perhaps indefinitely, because they have stem cell-like properties and can make clones of themselves. Researchers have come up with several strategies to flush reservoirs of cells that harbor latent HIV infections, but none have provedeffective.

To compare different reservoir-clearing strategies, Diaz and colleagues in 2015 recruited the So Paulo Patient and other individuals who had controlled their HIV infections with ARVs. The most aggressive approach, used in this man and four others, added two ARVs to the three they were already taking, in the hopethis would rout out any HIV that might have dodged the standard treatment. On top of this intensification, the study group received nicotinamide, which can, in theory, prod infected cells to wake up the latent virus. When those cells make new HIV, they either self-destruct or are vulnerable to immune attack.

After 48 weeks on this intensified schedule, the five trial participants returned to their regular three-drug regimen for 3 years, after which they stopped all treatment. Four saw the virus quickly return, but the So Paulo Patient has now gone 66 weeks without signs of being infected. Sensitive tests that detect viral genetic material did not find HIV in his blood. An even more sensitive test, which mixed his blood with cells that are susceptible to HIV infection, produced no newly infected cells.

Intriguingly, during the intensification period with nicotinamide, this man was the only one of the five who twice had the virus detected on standard blood tests. To Diaz, this suggests that latently infected cells had been roused, leading to blips of viral production. Im always trying to be a little bit the devils advocate, but in this case, Im optimistic, Diaz says. Maybe this strategy is not good for everybody because it only worked in one out of five here. But maybe it did get rid of virus. I dont know. I think this is a possibility.

Deeks says he does not know of any report, other than the two people cured by bone marrow transplants, of decreases in HIV antibody levels after stopping treatment. One large, outstanding question, he says, is whether the man indeed stopped taking his ARVs. I have not taken any HIV medication since March 30, 2019, the So Paulo Patient says. Diaz plans to confirm this by examining the mans blood for ARVs.

Another unknown is how soon the man started ARVs after becoming infected with HIV. Studies have shown that a small percentage of people who begin ARV treatment shortly after becoming infected have a better chance of controlling the virus for prolonged periods if they cease the drugs, presumably because they never built large reservoirs of infected cells. The So Paulo Patient started treatment 2 months after being diagnosed in October 2012. As with most people who become infected with HIV, he cannot say for certain when transmission occurred, but he suspects it was in June 2012. The only certainty is that he tested negative in 2010.

Its also unclear how nicotinamide would awaken silent infected cells. HIV DNA remains latent when it tightly spools around chromosome proteins known as histones. To make viral copies, it must unspool, and Diaz points to evidence that nicotinamide can trigger this unspooling in different ways.

Sharon Lewin, an HIV cure researcher who directs the Peter Doherty Institute for Infection and Immunity in Melbourne, Australia, finds the antibody response intriguing. But she underscores it is not a convincing, controlled experiment. We need to move beyond case reports of HIV remission, Lewin says. I would be super excited to see long term remission in multiple participants in a clinical trial. This is what the field needs to really advance.

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An intriguingbut far from provenHIV cure in the 'So Paulo Patient' - Science Magazine

Putting your employees and company culture first keeps the focus on inclusion and innovation, giving the company an incredible competitive advantage. At least thats the mantra at the heart of MyoKardia, a California-based biotech company that is developing precision medicine for cardiovascular diseases (CVDs).

We want to change the world for people with cardiovascular disease by taking a patient-focused, scientifically driven approach, Tassos Gianakakos, MyoKardias CEO, told BioSpace. When youre addressing hard problems, you need different opinions, approaches, and expertise at the table. That is the only way to effectively deliver on the mission.

Companies are at risk of getting it wrong when they dont focus on culture early on you need to launch out of the gate with a culture mindset, Gianakakos added. You get back what you put out there, so being a mission-driven, culture-valuing company will help draw in likeminded employees. That group genius is what enables remarkable improvements to health outcomes for society.

CVD, also called heart disease, is a blanket term used to describe many diseases that affect the heart or blood vessels. Globally, heart diseases are by far the number one killer in the world, with CVDs responsible for 17.9 million deaths worldwide. These conditions are highly prevalent throughout the population 30.3 million US adults have been diagnosed with CVDs.

Credit: WHO

We lose more people in the U.S. and around the world to cardiovascular conditions than any other disease, Gianakakos. MyoKardias entire purpose is to change that. We want to be the leading company developing precision medicine for CVDs. Our approach is different; were subtyping patient populations within these large, heterogeneous conditions so that we can identify effective, targeted therapeutics. The idea is to discover and develop medicines that have transformative potential for people.

MyoKardias late-stage pipeline focuses on two CVDs: hypertrophic cardiomyopathy (HCM), where the heart muscle becomes abnormally thick (hypertrophied), making it harder for the heart to pump blood; and dilated cardiomyopathy (DCM), where the hearts main pumping chamber (called the left ventricle) stretches and thins (dilates), making it harder for the heart to pump blood.

HCM is frequently caused by gene mutations in heart muscle proteins that cause the heart muscle to squeeze with more force than needed, leading to abnormal thickening over time. It is the most common inherited heart disease, occurring in about 1 in 500 people (over 650,000 people in the US). HCM is the most common cause of cardiac arrest (where the heart suddenly stops beating), in younger people. Although certain medications, like beta blockers and blood thinners, are used to treat some HCM symptoms, there arent any drugs that specifically address the underlying problem in HCM the genetic mutation-induced thickened heart muscle.

Positive results from a Phase III clinical trial of mavacamten, MyoKardias lead drug candidate for HCM, were announced in May. MyoKardia aims to submit a New Drug Application (NDA) submission with the FDA in the first quarter of 2021 and is planning for its first product launch.

DCMs causes may be varied in addition to genetics, a number of diseases are linked to left ventricle dilation, including diabetes, obesity, high blood pressure, infections, and drug and alcohol abuse. It is a common cause of systolic heart failure (where the heart isnt pumping blood as well as it should be). Medications such as angiotensin-converting enzyme (ACE) inhibitors, beta blockers, and blood thinners can successfully treat heart failure, but none of them are specific to the heart and have systemic side effects.

MyoKardias investigational drug danicamtiv is intended to increase heart contractions without interfering with the hearts ability to fill. The company recently reported encouraging data from their Phase IIa study of danicamtiv in chronic heart failure patients. They plan to advance into two new Phase II studies in specific patient populations: genetic DCM patients and systolic heart failure patients with paroxysmal or persistent atrial fibrillation (AFib).

BioSpace spoke to Gianakakos and Ingrid Boyes, MyoKardias Senior Vice President of Human Resources, about the companys pipeline, culture, and why building a culture of diversity and inclusion is foundational to a company.

(Boyes previously spoke to BioSpace in 2015 about what MyoKardia is looking for when theyre hiring.)

COMPANY CULTURE, DIVERSITY & INCLUSION

BioSpace: Why is company culture and diversity so important to a successful company? How do you promote diversity and inclusion at MyoKardia?

Gianakakos: The diseases we are tackling know no ethnic, gender or socioeconomic boundaries. So our company culture needs to reflect this. Our teams need to reflect this and the patients we are working to help. Its hard for us to see doing good science and achieving our mission any other way. And it goes beyond the science. To have a successful and meaningful company, we need to innovate more broadly in growth strategies, commercial models, and new ways to more effectively get our therapies to patients who need it around the world.

Im proud of how we embrace each others differences gender, ethnicity and race, orientation, socioeconomic status and beliefs -- and highlight the importance of company culture. Everyone at MyoKardia shares the same mission, the same values, but we embrace and value each persons differences. We want our employees to feel safe sharing their own voice and know that different points of view are valued and respected.

Boyes: Tassos passion for company culture is a large part of why I joined the company five years ago. As a Hispanic woman, its really important to me to create an environment where people can thrive and grow. We have fun while creating a valuable community. As employee number 50, I was able to focus on how to help build a company culture with Tassos that values diversity by building on employees experiences. We were very intentional about company culture and how we evolve it. Every voice at MyoKardia counts and every person plays an important role in improving CVD patients lives.

We actively seek input from our employees and encourage them to challenge the status quo. We also invite employees to lead activities and bring their unique perspectives to work.

Gianakakos: We want to bring great people who are passionate to the company and play to their strengths. Focusing on increasing their engagement and creating an energizing work environment allows employees to do their most creative and best work. Having people build the skills they want and need by cross-training and encouraging lifelong learning improves the connectivity and the innovation within the company.

We believe this is one of the key competitive advantages at MyoKardia connecting and supporting people to engage and excite them and ensuring they have a voice that is valued. Having diverse perspectives and a commitment to listening leads us to much better decisions and results.

What kind of diversity and engagement activities do you do both within MyoKardia and externally with the general public?

Boyes: We always strive to improve the culture by actively soliciting feedback from our employees though a number of channels, including engagement surveys. Implementing employee-led initiatives has brought great features into the companys culture, such as a womens forum that brings in external women speakers and identifies female role models, a green team focused on being more sustainable, and a community volunteer team that actively supports our community. All of these activities also help to develop valuable leadership skills regardless of title within our organization.

Gianakakos: Based on employee feedback, weve also implemented several policy changes, such as increasing the companys 401k match and giving each employee a six-week sabbatical once they have been with the company for six years.

Boyes: We want to be connected with diverse organizations and participate as much as possible externally connecting with others in the community with culture-focused passion. We are always looking to connect with driven people who share our company values.

Switching gears to the science, what does CVD drug development look like right now?

Gianakakos: In many ways, CVD is where oncology was 20 years ago there were no precision medicines and non-specific treatments such as chemotherapy and radiation were used regardless of cancer type. The number of drugs in development for CVDs is woefully low relative to its global burden. There are over 1,100 oncology drugs in development, but only 200 for cardiovascular diseases, despite CVDs killing more people annually than all cancers combined. In oncology today, precision medicine approaches have given us countless targeted therapies that have completely transformed patient care. We are making this happen today in CVD, where we feel may even have advantages over oncology given the many tools now available to monitor the heart, such as wearables and patches that measure the heart rate and rhythm.

What made you focus on precision cardiac medicine? Why now?

Gianakakos: Momentum around precision medicine in other disease areas was clearly growing and resulting in important advances when MyoKardia started eight years ago. The first cystic fibrosis drug that treated the underlying cause rather than the symptoms (ivacaftor) was just launched by Vertex and a few years prior to MyoKardia our founding investors were involved in launching several exciting new companies like Foundation Medicine, Agios and bluebird bio who were developing potentially game-changing targeted therapies.

Traditionally, CVD clinical trials are massive, expensive, and often fail. When there is a lack of understanding of the underlying disease biology and its unclear exactly what the drug is doing, that can result in a large signal-to-noise ratio. This in turn, requires larger studies which are more expensive, and the therapies have to benefit large numbers of patients for the investment to make sense. This is a recipe that doesnt lead to innovative or efficient drug discovery. Identifying smaller, more homogenous subgroups of patients who all share the same disease pathology, and targeting them with drugs designed specifically to address the underlying disease biology is so powerful. Were matching the tailored treatment to address each persons underlying condition understanding how to identify the right drugs for the right patients.

CARDIOVASCULAR DISEASE DRUG DEVELOPMENT & MYOKARDIAS PIPELINE

What are the major knowledge gaps that need to be addressed to make precision cardiac medicine achievable for many patients? What does the landscape look like right now for precision cardiac medicine?

Gianakakos: There needs to be a cultural shift in the CVD field to move away from grouping broad heterogenous patients together, to focusing on smaller, well defined patient groups treated with targeted therapies and learning as much as we can from those that respond very well and, as importantly, those that do not.

Matching patient profiles to drugs that specifically address their underlying disease is key. Leaning on existing technology, such as wearables, genetic sequencing, imaging, and biomarker profiles to subtype CVD patients and deeply understand the biological drivers of disease will lead to critically important targeted therapies and much more effective clinical trials.

In terms of other precision cardiac medicine approaches in development, gene therapies are being explored. While that technology is maturing, most gene therapies for CVDs are still in early-stage research, but eventually could be helpful for certain sub-groups of patients with CVD.

Relative to other disease areas, like oncology, it has been challenging for companies to invest in new approaches to drug discovery and development in areas like CVD and neurology. However, given the staggering medical need, and with progress being made by companies like ours, I expect interest in CVD precision medicine to increase over the next 3-5 years.

What does MyoKardias pipeline look like?

Gianakakos: Our Phase III drug, called mavacamten (MYK-461), is for HCM. HCM is a genetic disease where the heart thickens due to excessive force of contraction cause by mutations in the heart muscle proteins. There are two common subtypes of HCM: obstructive, where the thickening also occurs near the base of the aorta and prevents (obstructs) blood from flowing well out of the heart; and non-obstructive, where the thick muscle makes it challenging for the heart to relax and fill, reducing the amount of blood flow out of the heart without physically obstructing blood flow. About one-third of HCM patients have the non-obstructive type.

Mavacamten is a small molecule that targets the heart muscle protein myosin reducing the excessive force of contraction, directly addressing the underlying cause of HCM. We announced positive data from our Phase III trial (EXPLORER-HCM) of mavacemten in about 250 symptomatic obstructive HCM patients and we are now able to move full steam ahead on our first regulatory submission for approval. Encouraging results from a Phase II trial (MAVERICK-HCM) of mavacamten in about 60 participants with symptomatic non-obstructive HCM were recently presented and we are going to be moving mavacamten forward in non-obstructive patients. We are also conducting a long-term extension study is also ongoing for patients who participated in either EXPLORER-HCM or MAVERICK-HCM.

We started hyper focused in a disease with a defined genetic background and will expand in a deliberate way into adjacent diseases with similar problems, such as heart failure with preserved ejection fraction. About 3 million people in the U.S. have problems filling and relaxing their hearts and we estimate that approximately 10% of them share similar pathology to HCM. Are these disease subtypes related? Do they have similar genetic mutations? We plan to start a Phase II trial in the next few months to explore if mavacamten can help that specific heart failure population and learn much more about this devastating form of heart failure.

We also have a Phase II molecule, called danicamtiv (MYK-491), for DCM that is designed to increase the force of contraction in the heart - the opposite of what mavacamten has been created to do. Danicamtiv is a small molecule that selectively increases the number of myosin-actin cross bridges, supporting heart muscle contractions to help the heart pump more efficiently. It has recently completed a Phase Ib/IIa trial in DCM or stable heart failure patients and has shown very promising early results. We are now moving into a separate Phase II study in DCM patients with certain genetic mutations. Among the most interesting new findings from our clinical study of danicamtiv is that it appears to have a direct effect on the performance of the left atrium. We were able to confirm and learn more about these findings in nonclinical studies, which is leading us to explore danicamtiv in patients with systolic dysfunction and atrial fibrillation.

MyoKardia has gone from startup to successfully completing our first Phase III trial in eight years. In the coming months, we will be submitting our first drug to the FDA this year, which if approved will bring the first every therapy designed specifically for HCM to people with this debilitating condition.

We design our therapies with the aim of targeting the underlying disease mechanism to treat and, in some cases, reverse the problem, actually slowing down or reversing disease progression. That allows patients to live full lives, free from fear and complications. We are very excited and remain super ambitious. The magic and special sauce is really our employees and our culture.

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MyoKardia: The Precision Cardiac Medicine Company with Diversity and Inclusion at its Heart - BioSpace

SAN DIEGO, July 08, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that two top cytogeneticists from leading institutions in The Netherlands and France presented their research data as part of a multicentric, international effort to compare data generated with Bionanos Saphyr system against gold standard cytogenetic methods consisting of karyotyping, FISH, and/or chromosomal microarray in patients with a variety of constitutional or inherited genetic disorders and in patients with leukemias. In back-to-back online presentations, each showed 100% concordance between Saphyr and standard cytogenetics along with other discoveries that extend the capabilities of the current standard of care.

Summary of data presentations:

In a webinar originally hosted by LabRoots on Friday, June 22, Dr. Laila El Khattabi from the Cochin Hospital in Paris, France discussed how Saphyr improved structural variant detection for constitutional chromosomal aberrations in her research. The data originate from an international multi-center effort between the hospitals of Paris-Cochin, Lyon and Clermont-Ferrand and the Radboud University Medical Center in the Netherlands, as part of the first international consortium to validate Saphyr for constitutional cytogenetic analysis. The consortium compared the performance of Saphyr against the combination of karyotyping, FISH and array-based methods in 85 samples with a variety of constitutional aberrations including deletions, duplications, balanced and unbalanced translocations, inversions, ring chromosomes and aneuploidies in patients with intellectual disabilities and recurrent miscarriages. Saphyr showed 100% concordance with gold standard methods in these 85 samples. Dr. El Khattabi expressed the consortiums confidence in Saphyrs potential to largely replace standard cytogenetic testing methods in the future. A manuscript describing the study results will be submitted for publication in the coming weeks.

Dr. Alexander Hoischen from Radboud University Medical Center described how Bionano genome imaging identified likely pathogenic variants in 25% of unsolved rare disease cases analyzed with Saphyr. Dr. Hoischen presented two of these research cases, which involved families with undiagnosed genetic disorders. The first case involved a rare and aggressive childhood tumor named Atypical Teratoid Rhabdoid Tumor (ATRT) in which Saphyr detected an insertion in the SMARCB1 gene in a family affected by ATRT, while MLPA and next generation sequencing were unable to identify this variant. In a family affected by intellectual disability, Saphyr identified a single de novo deletion affecting the NSF gene, undetected by chromosomal microarray, whole exome and whole genome sequencing and long read sequencing. This deletion was confirmed to be de novo in the child through PCR validation. Finally, Dr. Hoischen provided an update on his retrospective comparative study on leukemias, which he presented at ESHG 2020 and is expected to be submitted for peer-review publication in the near future. The study showed 100% concordance between Bionanos Saphyr system and standard cytogenetics in 48 leukemia patients. Additionally, Saphyr identified novel events previously undetected by traditional cytogenetic methods, many of them being rare inter-chromosomal translocations causing gene fusions never described before, opening potential new avenues of research in precision medicine and drug development. Dr. Hoischen concluded that Saphyr has value in solving unanswered rare disease cases and has the potential to replace classical cytogenetics methods.

At the ESHG 2020 conference, Dr. Uwe Heinrich, representing MVZ Martinsried, Germany presented that Bionano was able to confirm all known large rearrangements in a cohort of patients with intellectual disability, developmental disorders and chromosomal aberrations. Drs. Hoischen and Heinrich announced that their respective teams are planning to seek accreditation for the Saphyr system, to start offering Bionanos genome imaging as part of a stepwise diagnosis, and to subsequently replace chromosomal microarray with Saphyr altogether later on.

Erik Holmlin, Ph.D., CEO of Bionano Genomics commented: We previously demonstrated the notable performance of Saphyr in leukemia studies across the globe, but the international study presented by Dr. El Khattabi demonstrates that Saphyr performs equally well in genetic diseases such as intellectual disabilities and subfertility. Saphyr showed 100% concordance with traditional cytogenetic methods and made additional discoveries in both leukemia patients and in those with constitutional disorders. We believe that Saphyr is capable of replacing traditional cytogenetic methods and consolidating these outdated methods into a single digital platform that is faster, less expensive and has lower manual labor needs, while providing greater accuracy than these methods.

A recording of the presentation by Drs. El Khattabi and Hoischen can be viewed at https://bionanogenomics.com/library/webinars/

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing. Bionanos Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. For more information, visitwww.bionanogenomics.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: our intentions, beliefs, projections, outlook, analyses or current expectations concerning the Saphyr System; the intended use of Saphyr by the institutions identified in this press release; expectations regarding the rate and extent of adoption of Saphyr in research and clinical settings; and the general effectiveness and utility of Saphyr, including its ability to replace traditional cytogenetic methods and enable discoveries that can contribute to treatment of disease. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

ContactsCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 430-7577arr@lifesciadvisors.com

Media Contact:Kirsten ThomasThe Ruth Group+1 (508) 280-6592kthomas@theruthgroup.com

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First Extensive Validation Study of Saphyr for Constitutional Genetic Disorders by European Consortium Shows 100% Concordance to Standard Cytogenetics...

Living through a global pandemic, we can take some comfort from the enormous collaborative research and development response that is taking place to find a way out from under the shadow of the COVID-19 crisis. Scientists around the world are working to find new diagnostics, treatments and vaccines to use in the fight against the coronavirus.

Nathalie Moll is the Director General of the European Federation of Pharmaceutical Industries and Associations (EFPIA).

The polar opposite of a pandemic, a rare disease may only affect a handful of patients in a particular country, but to the patient, their family, carers and clinicians, the impact of their condition can be just as devastating. Often genetic, discovered in childhood and frequently severe, rare diseases are some of the most significant scientific challenges in medicine. Typically they affect only 1 in 2,000 people, but there are more than 6000 rare diseases meaning around 30 million Europeans are living with some form of rare condition.

Rare diseases certainly dont attract the levels of media attention and interest that a public health crisis like COVID-19 does but for patients living with the 95% of rare diseases where no treatment options exist, the need for new diagnostics and medicines is every bit as real.

As the industry responsible for developing those new therapies, we are committed to achieving the crucial objective of finding new treatments for patients in areas of unmet medical need. It means supporting and strengthening the framework of incentives to drive further research into the next generation of treatments and cures for rare disease and paediatric treatments. Incentives drive investment, research and results. Results that mean new treatments and ultimately better outcomes for patients.

It is why EFPIA supports the existing European legislation on orphan medicines and paediatric medicines, while underlining the need to co-create vehicles to address issues around access to new treatments. Prior to the orphan legislation coming into force in 2000, there were just 8 treatments licensed for use to treat rare diseases, now there are 169, underlining the fundamental role that a predictable and stable incentives framework for research and development has. Any destabilisation of that framework threatens the investment in research and development in this area.

At the same time, faster, more equitable access to new rare disease treatments for patients across Europe is a shared goal and responsibility. Re-opening the Orphan Medicinal Product Regulation will not address the core challenges regarding unequal access and availability of orphan drugs within the EuropeanUnion. Addressing this challenge requires a structured dialogue with relevant stakeholders, Member States and the European Commission sensitive to their respective competence areas, to find solutions to introduce these ground-breaking treatments. That is why we reiterate the call to Member States and the Commission to set up a High-Level Forum composed of EU and national decision makers, patients, as well as the research and healthcare communities to find collaborative, multi-stakeholder solutions to these complex issues of access.

Considering the lack of innovation policy drivers in the Roadmap for the EUs Pharmaceutical Strategy, it is all the more critical that we maintain a stable and predictable incentives framework that can continue to support the development of new treatments for rare disease patients in Europe. We have to work together to ensure access to new treatments and technologies today, medical innovation in rare diseases for tomorrow and sustainable healthcare systems in a globally competitive Europe. Destabilising investment in the discovery and development of new treatments for patients living with rare diseases by re-opening a legislation, proven to be effective in stimulating the development of new treatments, cannot be the right approach.

One crystal clear lesson from the COVID-19 pandemic has been that the answer lies in medical innovation. This is equally true for patients living with rare diseases. Now is the time to re-build and re-invigorate rather than devalue Europes health research ecosystem, to make sure we address these challenges and #WeWontRest until we make treatments for rare diseases less rare.

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From pandemic to rare disease, medical innovation is the answer - EURACTIV

The roulette wheel that decides who lives and dies from the coronavirus is weighted by the type of blood coursing through the veins of victims, gifting some with innate resistance and dooming others to misery and torment.

Infectious-disease specialists say the worldwide pandemic is especially cruel to people with Type A blood, which apparently lacks certain compounds that help fight off the disease.

A study published June 17 in the New England Journal of Medicine found that people with Type A blood have a higher risk of contracting the disease and suffering complications. The analysis, conducted by an international team of scientists, also showed that people with Type O blood were at least partially protected from the virus.

It was one of several recent reports on the phenomenon, which epidemiologists say is not unique to COVID-19.

People with Type A blood ... are more likely to have severe disease and death than people with other types, said John Swartzberg, an infectious-disease specialist at UC Berkeley. It doesnt surprise me because we know that blood types are associated with other infectious diseases.

Blood type is determined by a gene that tells the body what blood cell proteins to make. The types, A, B, AB and O, have different antigens, which determine their properties, including weaknesses and strengths. A blood type that is positive means that persons red blood cells carry a protein called Rh, also known as the RhD antigen. Negative blood type does not.

Epidemiologists have long known that blood type plays a role in how peoples bodies react to infectious diseases, and Type A positive and negative appears to be among the most problematic.

For example, people with Type A blood have a higher chance of developing certain cancers, particularly stomach cancer. All the types of blood have agreeable and disagreeable qualities, but Type A is associated with higher levels of the stress hormone cortisol, according the National Institutes of Health.

Swartzberg said people with Type A blood are also more likely to contract the most virulent form of malaria, known as Plasmodium falciparum. The protozoan parasite that causes it is transmitted through the bite of a female mosquito.

On the other hand, people with Type O blood are less likely to develop inflammation during infections, suffer from heart disease, pancreatic cancer or contract parasitic diseases like P. falciparum.

The Journal of Medicine study sequenced the genomes of 1,980 COVID-19 patients in Spain and Italy who had suffered respiratory failure and compared their results with an approximately equal number of people who were not sick. The researchers concluded that people with Type A blood had as much as a 45% higher risk of getting severely ill from the coronavirus.

Another study, of more than 2,000 people in China in March, also found that blood group A had a significantly higher risk of coronavirus infection. That information aligns with other studies, most of them not yet peer reviewed.

In each case, Type O blood was linked to lower risk and less severe illness. A study by the genomics site 23andMe calculated that people with blood Type O were 9% to 18% less likely to contract COVID-19 than people with other types of blood.

Type O blood is handy in other ways. O positive is the most common blood type, and O negative is compatible with all other types of blood. Because O negative blood can be given to anybody, it is commonly used for transfusions.

Studies have shown that people with Type O blood also get fewer blood clots, a serious problem among COVID-19 patients.

SARS-CoV-2, the specific coronavirus that causes COVID-19, is essentially like a tiny parasite that uses its telltale spike proteins to latch onto the much larger human cells, like pepper on an egg. The virus uses the cells receptors to worm its way inside, where it replicates itself billions of times and spreads throughout the body.

There are a variety of factors that influence vulnerability to a coronavirus infection, including old age, underlying medical conditions and possibly race, although the high mortality rate among minorities is more likely related to poverty and a lack of medical care. A study, published Wednesday in Nature, said Latinos and African Americans are three times more likely than white people to be infected by the coronavirus and nearly twice as likely to die.

Men are hospitalized and die from the virus more often than women, a disparity that researchers have linked to testosterone, the male sex hormone.

Researchers know that the coronavirus targets ACE2 receptors, a protein on the surface of human cells that normally helps regulate blood pressure. Peter Chin-Hong, a professor of medicine and infectious diseases at UCSF, said the genes that make the ACE2 receptors are next to the genes that provide the blood type codes.

Because they are so close to each other, they influence each other in ways we dont understand, Chin-Hong said. Things are next to each other for a reason.

Nobody knows exactly how the coronavirus operates, but some scientists believe the virus, when it infects a new host, carries with it genetic coding blood type antigens from its last victim. Apparently, Type O blood adapts better to the coronavirus coding.

Swartzberg said this may have something to do with the types of carbohydrates, or sugars, on the surface of red blood cells.

The Type A carbohydrate may facilitate the entrance of the (malarial) protozoan into the red blood cell, causing more severe infection, Swartzberg said. People with Type O blood, which doesnt have any of those carbohydrates, may be somewhat protected.

George Rutherford, a UCSF infectious-disease specialist, said Caucasians of Mediterranean descent have the highest percentage of Type A blood.

Most of these (blood type) observations are from Italy and Spain, which have had horrendous COVID outbreaks, Rutherford said.

A big puzzle is that blood type doesnt seem to matter when it comes to African Americans and other people of color. Type O blood is more common among African Americans a little more than half carry that type yet African Americans have disproportionately high infection rates. The same goes for Latinos, 57% of whom carry Type O blood.

Its an indication, Rutherford said, that socioeconomic problems like poverty, obesity and stress may be bigger factors in who gets the disease and how ill they become than blood type.

Peter Fimrite is a San Francisco Chronicle staff writer. Email: pfimrite@sfchronicle.com Twitter: @pfimrite

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If you have this blood type, studies show youre at higher risk for the coronavirus - San Francisco Chronicle

A federal program trying to recruit 1 million people for medical research is launching an effort to learn more about COVID-19. WUWM's Chuck Quirmbach reports.

A federal program trying to recruit 1 million people for medical research is launching an effort to learn more about COVID-19. The Medical College of Wisconsin and some other health care outlets in the state are part of the program called All of Us.

All of Us began during the Obama administration and could cost $1.5 billion nationally over a 10-year period.

READ:In Return For Some DNA, Program Promises Medicine Eventually 'Tailored To You'

So far, the National Institutes of Health (NIH) has gotten about 280,000 people to sign up for All of Us. Volunteering means allowing NIH confidential access to online medical records and to provide researchers with blood and urine samples. The hope is to build a diverse biomedical database that will lead to more individualized, or precision, disease prevention, treatment and care.

Enrollment for All of Us has been on hold for more than three months due to the COVID-19 pandemic. But program officials are about to start conducting antibody tests of the blood samples of at least the last 10,000 people who signed up for All of Us early this year.

Dr. Jeff Whittle is a professor of Medicine and the Medical College of Wisconsin's principal investigator for All of Us. He says the tests will look for antibodies, or disease-fighting proteins that formed in people who had the coronavirus at the time of giving the blood sample.

"It won't lead directly to effect treatment. It will help us to understand who are the higher-risk individuals for infection and at higher risk for becoming ill. It may help us target resources. It may help target testing. It may help us target vaccination because when a vaccine becomes available, there will be some groups that providers will be wanting to vaccinate sooner than others, Whittle said.

Whittle also told WUWM there may be a genetic link to how humans interact with the coronavirus."There may be markers on your cells, determined by genetics, that make you more or less likely to be infected. There may be aspects of how your immune system works, that are genetically determined, that may make you able to mount a more robust or less robust response."

Whittle says All of Us volunteers, in effect, already gave permission for their submitted blood samples to be tested for research. He says after the antibody study is conducted at Vanderbilt University, some participants may eventually be contacted for follow-up.

As for recruiting nationally 720,000 more people for All of Us, Whittle says people can call to begin preliminary sign-up. He says The Medical College of Wisconsin will schedule local appointments tobegin later this month.

Support for Innovation reporting is provided by Dr. Lawrence and Mrs. Hannah Goodman.

Do you have a question about innovation in Wisconsin that you'd like WUWM's Chuck Quirmbach to explore? Submit it below.

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COVID-19 Now Research Focus Of Health Database That Has Several Wisconsin Partners - WUWM

LOS ANGELES, July 7, 2020 /PRNewswire/ -- The Prostate Cancer Foundation (PCF) has collaborated with a consortium of 41 leading patient advocacy organizations, professional societies and industry partners to publish a white paper detailing recommendations for the use of testing terminology in precision medicine for patient education throughout the cancer community. Use of consistent language will significantly improve patient awareness and understanding of potentially life-saving testing options available for both new cancer diagnoses and progression or recurrence of disease. In prostate cancer, testing is a crucial tool that may reveal additional treatment options and/or information for a man's family about their own cancer risk.

Research shows that despite widespread acceptance of the importance of testing, actual testing rates lag far behind best-practice recommendations for both biomarker testing for somatic (acquired) mutations and other biomarkers, and for germline genetic testing for identifying germline (inherited) mutations (also known as variants). Analysis by The Consistent Testing Terminology Working Group (Working Group) indicates that language disparity is a primary obstacle to patient communication with providers about testing for their specific cancer type. Further, development of consistent language can increase patient understanding and communication, facilitate shared decision making, support value-based care and assure concordance in policy development.

"Both types of testing biomarker testing and genetic testing for inherited cancer risk are important in the care of prostate cancer patients," said Dr. Andrea Miyahira, Director of Global Research and Scientific Communications at PCF. "One example is the very recent approval of medications for men with advanced prostate cancer and certain mutations in their tumor or inherited mutations that would be revealed through testing. Therefore, clear terminology and understanding between patients and providers is all the more vital. PCF supports this valuable collaboration across cancer types."

The Working Group is a consortium of 20 cancer patient advocacy groups representing solid tumor and hematologic malignancies, three professional societies, and 18 pharmaceutical and diagnostic companies and testing laboratories. Over the course of many years, multiple activities, led by numerous individual patient advocacy organizations and professional societies have developed the groundwork for this effort. The Working Group has launched a multi-faceted dissemination and communications effort to ensure that its recommendations and supporting materials are widely available among all key stakeholders within the cancer ecosystem, including providers, patient advocacy organizations, guidelines agencies, payers, and policymakers.

In developing its recommendations, the Working Group, first convened in 2019 by LUNGevity Foundation, identified 33 terms related to biomarker, genetic and genomic testing that were being used in patient education and clinical care within the different cancer communities. In many cases, multiple terms were used to describe the same test. Various testing modalities, the source of testing samples, and the multiplicity of gene mutations currently identifiable by testing, were contributing factors in this often-confusing overlap.

In the final analysis, three umbrella descriptor terms emerged as recommendations from the Working Group's milestone exploration: "Biomarker testing" was selected as the preferred term for tests that identify characteristics, targetable findings or other test results originating from malignant tissue and blood; "genetic testing for an inherited mutation" and "genetic testing for inherited cancer risk" were selected as consensus terms for tests used to identify germline (inherited) mutations.

"Far too many patients across all cancer types are still missing out on essential tests for biomarkers and inherited mutations indicating cancer risk," said Michelle Shiller, DO, AP/CP, MGP, Co-Medical Director of Genetics at Baylor Sammons Cancer Center and Staff Pathologist at Baylor University Medical Center. "With rates of biomarker testing and genetic testing for an inherited mutation at sub-optimal levels for numerous patient populations, patients are not benefiting from biomarker-directed care or not learning about their inherited cancer risk. Confusion around testing terms is a driving factor in this undertesting and ultimately has a detrimental impact on patient care."

"When someone is diagnosed with cancer, they're swept into a whirlwind of bewildering words and complex, pressing decisions. Our Working Group's goal is to help calm that storm of confusion with clear and consistent language that facilitates communication and medical decision-making. A unified voice and message from providers, industry and the patient advocacy community about testing is absolutely vital to optimal cancer care," said Nikki Martin, Director of Precision Medicine Initiatives at LUNGevity Foundation.

An abstract on the Working Group's recommendations was published in May 2020 as part of the American Society of Clinical Oncology (ASCO) Annual Meeting Virtual Library. The White Paper can be viewed in its entirety athttp://www.commoncancertestingterms.org/.

About LUNGevity Foundation LUNGevity Foundation is the nation's leading lung cancer organization focused on improving outcomes for people with lung cancer through research, education, policy initiatives, and support and engagement for patients, survivors, and caregivers. LUNGevity seeks to make an immediate impact on quality of life and survivorship for everyone touched by the diseasewhile promoting health equity by addressing disparities throughout the care continuum. LUNGevity works tirelessly to advance research into early detection and more effective treatments, provide information and educational tools to empower patients and their caregivers, promote impactful public policy initiatives, and amplify the patient voice through research and engagement. The organization provides an active community for patients and survivorsand those who help them live better and longer lives.

Comprehensive resources include a medically vetted and patient-centric website, a toll-free HELPLine for support, the International Lung Cancer Survivorship Conference, and an easy-to-use Clinical Trial Finder, among other tools. All of these programs are to achieve our visiona world where no one dies of lung cancer. LUNGevity Foundation is proud to be a four-star Charity Navigator organization. Please visit http://www.LUNGevity.org to learn more.

About the Prostate Cancer Foundation The Prostate Cancer Foundation (PCF) is the world's leading philanthropic organization dedicated to funding life-saving prostate cancer research. Founded in 1993 by Mike Milken, PCF has raised more than $830 million in support of cutting-edge research by more than 2,200 research projects at 220 leading cancer centers in 22 countries around the world. Thanks in part to PCF's commitment to ending death and suffering from prostate cancer, the death rate is down more than 50% and countless more men are alive today as a result. PCF research now impacts more than 73 forms of human cancer by focusing on immunotherapy, the microbiome, and food as medicine. For more information, visit PCF.org.

Media Contact: Donald Wilson Prostate Cancer Foundation (310) 428-4730 press@pcf.org

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SOURCE Prostate Cancer Foundation

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The Prostate Cancer Foundation Collaboration With Pan-Cancer Consortium Clarifies And Promotes Consistent Use Of Common Terms For Biomarker And...