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Strategy uses particles to target gene in specific immune cells

Using dual-energy X-ray absorptiometry to identify fat (white) in the body, researchers at Washington University School of Medicine in St. Louis found excessive fat in a mouse that had consumed a high-fat diet for six weeks (left). The mouse on the right ate the same diet, but the researchers blocked the activity of a gene in specific immune cells, resulting in that mouse not becoming obese.

Disabling a gene in specific mouse cells, researchers at Washington University School of Medicine in St. Louis have prevented mice from becoming obese, even after the animals had been fed a high-fat diet.

The researchers blocked the activity of a gene in immune cells. Because these immune cells called macrophages are key inflammatory cells and because obesity is associated with chronic low-grade inflammation, the researchers believe that reducing inflammation may help regulate weight gain and obesity.

The study is published May 1 in The Journal of Clinical Investigation.

Weve developed a proof of concept here that you can regulate weight gain by modulating the activity of these inflammatory cells, said principal investigator Steven L. Teitelbaum, MD, the Wilma and Roswell Messing Professor of Pathology & Immunology. It might work in a number of ways, but we believe it may be possible to control obesity and the complications of obesity by better regulating inflammation.

When people are obese, they burn fewer calories than those who are not obese. The same is true for mice. But according to co-first author Wei Zou, MD, PhD, an assistant professor of pathology & immunology, the researchers found that obese mice maintained the same level of calorie burning as mice that were not obese after the research team deleted the ASXL2 gene in the macrophages of the obese mice and, in a second set of experiments, after they injected the animals with nanoparticles that interfere with the genes activity.

Despite high-fat diets, the treated animals burned 45% more calories than their obese littermates with a functioning gene in macrophages.

Exactly why this prevented obesity in the mice isnt clear. Co-first author Nidhi Rohatgi, PhD, an instructor in pathology, said it appears to involve getting white fat cells which store the fat that makes us obese to behave more like brown fat cells which help to burn stored fat. The strategy is a long way from becoming a therapy, but it has the potential to help obese people burn fat at rates similar to rates seen in lean people.

A large percentage of Americans now have fatty livers, and one reason is that their fat depots cannot take up the fat they eat, so it has to go someplace else, Teitelbaum said. These mice consumed high-fat diets, but they didnt get fatty livers. They dont get type 2 diabetes. It seems that limiting the inflammatory effects of their macrophages allows them to burn more fat, which keeps them leaner and healthier.

Zou W, et al. Myeloid-specific Axsl2 deletion limits diet-induced obesity by regulating energy expenditure. The Journal of Clinical Investigation, May 1, 2020.

This work was supported by the National Heart, Lung and Blood Institute; the National Institute of Arthritis and Musculoskeletal and Skin Diseases; the National Institute of Diabetes and Digestive and Kidney Diseases; the National Institute of Allergy and Infectious Diseases and the National Institute of Biomedical Imaging and Bioengineering of the National Institutes of Health (NIH). Grant numbers HL1388163, AR064755, AR068972, AR070975, HL38180, DK56260, P30 DK52574, P41 EB025815, HL073646, DK102691, AI019653, DK109668, DK056341, AR046523, DK111389 and P30 AR074992. Additional funding from the Physician-Scientist Training Program at Washington University School of Medicine and the Childrens Discovery Institute.

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

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Obesity prevented in mice treated with gene-disabling nanoparticles - Washington University School of Medicine in St. Louis

We partner with clients in life sciences and medical technology hubs around the world who are developing medical devices and diagnostic tools enabled by optics.

By Optikos Corporation

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Decades of service in the optics industry have given us aproven track recordof innovative and practical problem solvingthat serves the development needs of a diverse portfolio of clients.We know how to design products, assemblies and instruments that work for clients that range from medical start-ups to large institutions. The Optikos engineering team helps make our customers medical devices and diagnostic systems a reality while meeting high standards and requirements for performance and safety. Whether it is a unique microscopy system, gene sequencing platform, endoscopic instrument, or other type of optically based system.

Many of our clients turn to Optikos for additional engineering bandwidth or foraccess to the skills and experience their staff may not haveto develop an optically-based product or solution. When you need aflexible and scalable resource for engineering and assembly, we can work with you to quickly provide a powerful team during the most intense portions of a product development effort. We can then readily scale the team up or down according to the needs of the project.

Optikos clients are located worldwide, and our headquarters is in the greater Boston, MA area among the worlds top private- and public-sector healthcare innovators.The diverse nature of our clients and their applications requires our engineers to have the ability to adapt to the culture of an organization as well as to local and regional customs and regulations. Our teams have worked at the forefront of surgical and medical technologies, developing complicated designs that incorporate optics and photonics, opto-mechanics, software, electronics, and automation; and meet rigorous regulatory requirements, and we bring this experience to every new project we take on, no matter how large or small.

And when you transition to manufacturing, Optikos is well-positioned to help. Optikos leverages its world-renowned expertise in lens/sensor metrology and testing to ensure the performance and quality of what we design and manufacture. Well provide pilot production, test procedures, assembly instructions, and training to get you up and running quickly; well act on your behalf in identifying a manufacturer equipped to meet your needs; or well offer contract manufacturing at our facility. We do whatever is in our clients best interest.

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Optics makes amazing things possible in biological research and medicineand Optikos makes it happen - Mass Device

While researchers are working to advance drugs to treat COVID-19 and vaccines to give people immunity against the virus, the mental health impact of the pandemic will also have to be managed. This is where PGx testing may be most useful, experts in the field said.

"It is worthwhile to consider not just the utility of PGx in preventing hospitalization or changing the course of COVID-19 care," but also the impact it could have on managing "the burden on the patients that do survive a COVID-19 infection [and] those that are suffering from the isolation of social distancing, as well as the financial hardships," said David Thacker, a clinical pharmacogenetics content specialist at Translational Software.

According to a recent JAMA editorial, during the SARS outbreak in 2003, there was a greater incidence of post-traumatic stress syndrome and psychological distress among patients and doctors. In communities impacted by Hurricane Ike in 2008, around 5% of individuals met the criteria for major depressive disorder, while one in 10 adults in New York City had symptoms of the disorder after 9/11.

"In the context of the COVID-19 pandemic, it appears likely that there will be substantial increases in anxiety and depression, substance use, loneliness, and domestic violence; and with schools closed, there is a very real possibility of an epidemic of child abuse," wrote Sandro Galea from Boston University School of Public Health, Raina Merchant from the Perelman School of Medicine, and Nicole Lurie from the Coalition for Epidemic Preparedness Innovations in Norway.

A survey in March by the American Psychiatric Association found that more than a third of polled individuals said that the pandemic was seriously impacting their mental health, nearly half said they were scared about getting the virus, and 62% said they feared a loved one would get it. Meanwhile, calls to substance abuse and mental health help lines increased eightfold from February to March.

As the pandemic continues, people may increasingly turn to medications to deal with the psychological wounds left by the pandemic. Drugs to treat mental health conditions, including major depressive disorder, are some of the most widely prescribed drugs in the U.S., but they're also highly variable and associated with unwanted side effects.

As such, one of the main areas where PGx testing has seen uptake is for personalizing psychiatry drugs. Myriad Genetics recently published a meta-analysis involving more than 1,500 patients with major depressive disorder who were enrolled in four studies, which showed that patients who received treatment based on PGx information had significantly better outcomes than those who did not.

Although PGx testing in psychiatry is not without its naysayers, doctors may reach for such testing if the use of mental health drugs increases during or after the pandemic. Genomind, a mental health-focused PGx testing company, recently took a number of steps to make it easier for physicians to deliver psychiatric care during the pandemic. Doctors can order Genomind's PGx test and send a saliva collection kit to patient's homes, which can then be mailed to the lab for analysis. Through Genomind, doctors also have access to Sharecare's HIPAA-compliant telemedicine platform for free until September, which they can use to remotely see patients and discuss PGx test results, if ordered.

"The utility of PGx during the COVID-19 crisis is more important than ever," a spokesperson for the company said. "This service is helping enable critical mental health treatment during the pandemic and Genomind is doing its best to enable as many mental health professionals as possible."

This story first appeared in our sister publication, Genomeweb.

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Drug-gene testing could give experts insight into COVID-19 treatment - ModernHealthcare.com

Six weeks ago, with little fanfare, a network of geneticists launched an obscure but potentially game-changing initiative. Their aim: to learn why people with particular DNA profiles end up dying from the coronavirusor completely avoiding its effects. Ultimately, they want to devise ways for scientists to cook up new therapies that might alter how our nanosize genes operate as a way of reversing or accelerating the pathogens progress. Called the COVID-19 Host Genetics Initiative, the project now involves close to 700 scientists and researchers, worldwide, who are busily comparing DNA data from pandemic victims to literally millions of existing DNA profiles of millions of people.

To appreciate how our genes might be impacted by the onslaught of COVID-19, imagine this: that a tiny, invisible bug is hovering over the surface of a cell inside your bodysay a lung cell. You dont know it yet, but youve just been infected with SARS-Cov-2. Maybe it came from that jogger who whizzed past you on the sidewalk, or that tabletop you touched before rubbing your eyes. Whatever its source, there it is, circulating inside you: a fuzzy, sphere-shaped pathogen thats less than 1/1000 the width of a human hair. Prickly, with spikes on its outside, its searching for a place to plug into and enter your cell. Its a little like a key and a lock, where the key (the virus) wants to slip into the keyhole (a receptor on the cell) and then release a payload that will be up to no good.

Except that, in some people, the virus-key doesnt fit the lock and is blocked from entering the cell. In others, it slips right in, leading to illness and sometimes to rapid deterioration and even death. One potential differencesay geneticists who are working day and night to better understand how SARS-Cov-2 invades and attacks our cellsmight be because your DNA code differs from mine. Yours might inherently spurn the virus at the cellular level; mine might make me more susceptible.

So what determines who gets dangerously sick? We know that people who are older and have underlying diseases like diabetes and heart disease are at higher risk for having a bad response to COVID-19, explained Mark Daly, a 52-year-old geneticist and the director of the Institute for Molecular Medicine in Helsinki, Finland. Other factors include higher risk biases that involve ethnicity, class, vocation, geographic location, and the medical resources available at the time of treatment. And yet, according to Daly, this doesnt explain why relatively healthy people, including young people, are sometimes having severe and life-threatening reactions such as very high fevers, pneumonia, and difficulty with breathing that requires oxygen and sometimes a ventilator. Most likely this has something to do with differences in their genes.

Daly should know. With his Paul Reverelike ponytail, circular hippie glasses, and lean, determined face, hes a pioneer of modern genetics who was a key player during and after the Human Genome Project, the huge international effort in the 1990s and early 2000s that sequenced the first-ever human genome. And as the pandemic has been raging, Daly, a physicist, decided to help spearhead a remarkable hive-mind effort: the COVID-19 Host Genetics Initiative.

The project was announced on March 16 in a tweet posted by Dalys cohort Andrea Ganna: Goal: aggregate genetic and clinical information on individuals affected by COVID-19. The response was immediate. Within days, scientists from over 150 organizations in more than 30 countries on six continents agreed to join. Thats the ideal use of the hive mind: a conglomeration of big brains and, in this case, their disparate data sources, to solve one huge problem. Participants have come not only from Harvard and MIT (institutions with which Daly has ongoing affiliations) and the usual institutional suspects in North America, Europe, and the wealthier Asian countries, but also from the Qatar Genome Program, Vietnams SARS-Cov-2 Susceptibility Program, and CLHORAZbased in Burkina Faso.

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What Do Your Genetics Have to Do With Your Chances of Dying From Coronavirus? - Vanity Fair

LONDON--(BUSINESS WIRE)-- Vertex Pharmaceuticals Incorporated (Nasdaq: VRTX) today announced that the European Medicines Agencys (EMA) Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion for the label extension of KALYDECO (ivacaftor), to include the treatment of children and adolescents with cystic fibrosis (CF), ages 6 months and older weighing at least 5 kg who have the R117H mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Todays announcement is important for young people with CF, as early intervention and treatment of this devastating and progressive disease is key to keeping patients healthier longer, said Carmen Bozic, M.D., Executive Vice President and Chief Medical Officer at Vertex. This milestone also brings us one step closer to achieving our ultimate goal of bringing medicines forward to all people with CF.

The European Commission will now review the CHMPs positive opinion, and should they issue a favorable adoption, KALYDECO (ivacaftor) will be the first and only approved medicine in Europe to treat the underlying cause of CF in patients ages 6 months and older with the R117H mutation. In countries where long-term reimbursement agreements have been secured, KALYDECO (ivacaftor), if approved, would be available to eligible patients shortly after Marketing Authorization. In Germany, the medicine would be available at Marketing Authorization. In all other countries, we will work closely with relevant authorities in Europe to secure access for eligible patients quickly.

In Europe, KALYDECO (ivacaftor) is already approved for the treatment of people with CF ages 18 and older with the R117H mutation, and children ages 6 months and older weighing at least 5 kg who have one of the following mutations in the CFTR gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R.

About Cystic Fibrosis

Cystic Fibrosis (CF) is a rare, life-shortening genetic disease affecting approximately 75,000 people worldwide. CF is a progressive, multi-system disease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene. Children must inherit two defective CFTR genes one from each parent to have CF. While there are many different types of CFTR mutations that can cause the disease, the vast majority of all people with CF have at least one F508del mutation. These mutations, which can be determined by a genetic test, or genotyping test, lead to CF by creating non-working and/or too few CFTR proteins at the cell surface. The defective function and/or absence of CFTR protein results in poor flow of salt and water into and out of the cells in a number of organs. In the lungs, this leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage in many patients that eventually leads to death. The median age of death is in the early 30s.

About KALYDECO (ivacaftor)

Ivacaftor is the first medicine to treat the underlying cause of CF in people with specific mutations in the CFTR gene. Known as a CFTR potentiator, ivacaftor is an oral medicine designed to keep CFTR proteins at the cell surface open longer to improve the transport of salt and water across the cell membrane, which helps hydrate and clear mucus from the airways.

About Vertex

Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases. The company has multiple approved medicines that treat the underlying cause of cystic fibrosis (CF) a rare, life-threatening genetic disease and has several ongoing clinical and research programs in CF. Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency and APOL1-mediated kidney diseases. In addition, Vertex has a rapidly expanding pipeline of genetic and cell therapies for diseases such as sickle cell disease, beta thalassemia, Duchenne muscular dystrophy and type 1 diabetes mellitus.

Founded in 1989 in Cambridge, Mass., Vertex's global headquarters is now located in Boston's Innovation District and its international headquarters is in London, UK. Additionally, the company has research and development sites and commercial offices in North America, Europe, Australia and Latin America. Vertex is consistently recognized as one of the industry's top places to work, including 10 consecutive years on Science magazine's Top Employers list and top five on the 2019 Best Employers for Diversity list by Forbes.

Special Note Regarding Forward-looking Statements

This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, including, without limitation, Dr. Bozics statements in the second paragraph of this press release, and statements regarding our expectations for the approval and availability of KALYDECO in Europe, and our plans for securing access to KALYDECO for eligible patients in Europe. While Vertex believes the forward-looking statements contained in this press release are accurate, these forward-looking statements represent the company's beliefs only as of the date of this press release and there are a number of factors that could cause actual events or results to differ materially from those indicated by such forward-looking statements. Those risks and uncertainties include, among other things, that data from the company's development programs may not support registration or further development of its compounds due to safety, efficacy or other reasons, risks related to obtaining and commercializing KALYDECO in Europe, and other risks listed under Risk Factors in Vertex's annual report and quarterly reports filed with the Securities and Exchange Commission and available through the company's website at http://www.vrtx.com. Vertex disclaims any obligation to update the information contained in this press release as new information becomes available.

(VRTX-GEN)

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Vertex Receives European CHMP Positive Opinion for KALYDECO (ivacaftor) for Children and Adolescents With Cystic Fibrosis Between the Ages 6 Months...

Val Sheffield, the Roy J. Carver Chair in Molecular Genetics at the University of Iowa Roy J. and Lucille A. Carver College of Medicine, has been elected tothe 2020 class of the American Academy of Arts andSciences.

Sheffield was recognized for playing a key role in constructing human genetic maps and developing efficient disease-gene discovery approaches. This paved the way for the completion of the human genome project and significantly contributed to genetic discoveries in blinding eye diseases, obesity, hypertension, and neurological disorders, potentially leading to noveltherapies.

The American Academy of Arts and Sciences, founded in 1780 by John Adams and John Hancock, is both an honorary society that recognizes and celebrates the excellence of its members and an independent research center convening leaders from across disciplines, professions, and perspectives to address significant challenges. Elected members join with other experts in cross-disciplinary efforts to produce reflective, independent, and pragmatic studies that inform public policy and advance the publicgood.

This year, 276 new members were elected and include notable scientists, artists, scholars, and leaders in the public, nonprofit, and private sectors. Sheffield joins 58 other leaders in the medical sciences specialty. Academy members are nominated and elected by current members and chosen for excellence in their field and a record of continuedaccomplishment.

Sheffield is eager to contribute hisexpertise.

Genetic and genomic data are increasingly being integrated into the practice of medicine. With my expertise in human molecular and clinical genetics and genomics, Im hoping to be a useful resource to the academy, Sheffieldsays.

This is an incredible honor and well-deserved national recognition. We are extremely proud of Dr. Sheffield and his achievements, says Brooks Jackson, UI vice president for medical affairs and the Tyrone D. Artz Dean of the Carver College of Medicine.Given these turbulent times, it is especially gratifying to be able to celebrate hissuccess.

Sheffield joined the UI in in 1990 to perform research and practice clinical genetics in the Division of Medical Genetics for the UI Stead Family Department of Pediatrics. He has spent his entire career at Iowa, where he served as director of the Division of Medical Genetics for 22 years until stepping down in January 2020. He conducts scientific research related to human genetic diseases, however, he has recently converted a portion of his lab to join researchers across the world fighting the coronaviruspandemic.

Since the COVID-19 shutdown, I have switched some of my laboratory personnel to a COVID-19 project. We are trying to devise a simple method for collecting samples from patients for COVID-19 testing that doesnt require nasal swabs (in short supply) or use medical personnel to collect samples. The person being tested will self-collect the sample, thus saving on personnel and personal protective equipment. I am hoping to get FDA approval soon for this method so that it can be used to expand needed testing throughout Iowa, Sheffieldsays.

At the UI, Sheffield trains doctoral and medical students as a professor of pediatrics and a professor of ophthalmology and visual sciences. He also is an investigator for the UI Institute for Vision Research and practices medicine, caring for patients with human genetic disorders. He has co-authored more than 330 peer-reviewed scientific papers. He previously was an investigator for the Howard Hughes Medical Institute (HHMI), from 1998 to2016.

The members of the class of 2020 have excelled in laboratories and lecture halls, they have amazed on concert stages and in surgical suites, and they have led in board rooms and courtrooms, says academy President David W. Oxtoby. These new members are united by a place in history and by an opportunity to shape the future through the academys work to advance the publicgood.

Sheffield attended Brigham Young University, where he earned a bachelors degree in zoology and a masters degree in developmental biology. He received a doctoral degree in developmental biology and a medical degreewith honors from the University of Chicago. He was a resident in pediatrics and fellow in medical genetics at the University of California, SanFrancisco.

His research has been funded by the National Institutes of Health (NIH) for 29 consecutive years, as well as by the Roy J. Carver Charitable Trust. Sheffields honors include the E. Mead-Johnson Award for Pediatric Research and the Lewis Rudin Prize from the New York Academy of Science, and he is a member of the National Academy of Medicine. Sheffield is board certified by the American Board of Medical Genetics and Genomics in both clinical genetics and clinical moleculargenetics.

Sheffield joins the following UI faculty and administrators who havebeen elected members of the American Academy of Arts andSciences:

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Val Sheffield elected to the American Academy of Arts and Sciences - Iowa Now