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Archive - Apr 2017

April 26th

Landmark Clinical Trial Supports Use of Drug Combination to Treat Eye Inflammation Associated with Juvenile Idiopathic Arthritis

A clinical trial funded by Arthritis Research UK and the National Institute for Health Research (NIHR) led by professors from the Universities of Liverpool and Bristol has discovered a drug combination that could help thousands of children with arthritis. Over 5,000 children and adolescents with Juvenile Idiopathic Arthritis (JIA) in the UK are likely to develop uveitis, a condition that causes inflammation in the middle layer of the eye. The drug combination discovery will help preventing them from serious complications, including blindness. The trial was the first of its kind in the world and the findings are a major step forward for children with JIA. The drug therapy has already been approved for use and the study is published today in The New England Journal of Medicine. The article is titled “Adalimumab Plus Methotrexate for Uveitis in Juvenile Idiopathic Arthritis.” The trial's Co-Chief Investigators, Professors Michael Beresford and A. V. Ramanan, and colleagues from across the UK, found that a drug called adalimumab, in combination with methotrexate, was an effective therapy in children and adolescents with JIA-associated uveitis. The majority (75 per cent) of those children treated with adalimumab experienced a significant reduction in eye inflammation. An early analysis of the data was so convincing that the trial was stopped early. In this randomized, placebo controlled trial on review of 90 of the target 149 patients with JIA-associated uveitis, the data and safety monitoring committee noted that the adalimumab group had evidence of a significantly lower risk of treatment failure than the placebo group.

April 26th

Five Weill Cornell Medical Students Win Prestigious Howard Hughes Fellowships; One Will Focus on Exosomes in Brain Cancer

Five Weill Cornell Medical College students have been named 2017 Medical Research Fellows from the Howard Hughes Medical Institute (HHMI). It’s the most HHMI fellowships awarded to Weill Cornell students since the award’s inception in 1989. The Institute offers the prestigious fellowship to develop exceptional medical, veterinary, and dental students into future physician-scientists. Third-year Weill Cornell medical students Sydney Ariagno, Aditi Gupta, Solomon Levin, Aaron Oswald, and Yoshiko Toyoda are among 79 students nationwide to receive the honor, which will provide them with a year of full-time, mentored laboratory research training. Fellows, funded by a $32,000 stipend and additional allowances for travel and other expenses, will share their research at the American Society of Clinical Investigation-Association of American Physicians Joint Meeting April 20-22, 2018, in Chicago. “This is a tremendous accolade and illustrates the growing importance of original research as a component of medical education at Weill Cornell Medicine,” said Dr. Anthony Brown, Director of Medical Research at Weill Cornell Medicine. “Our students are extremely talented and they have an extraordinary choice of faculty mentors to guide their research, be it in basic science, translational, clinical, or population-based studies.” Ariagno will work to develop a non-invasive blood test, based on identifying small tumor-secreted packages or exosomes, which can diagnose the most common malignant brain tumor in children, called medulloblastoma. By identifying the characteristics of the exosomes as the tumor develops, Ariagno hopes to be able to monitor the disease’s growth and predict its future progression. She will be mentored by Dr.

Obesity Amplifies Effects of Gene Variants Associated with Increased Risk of Non-Alcoholic Fatty Liver Disease (NAFLD)

An international study based at the University of Texas (UT) Southwestern Medical Center has revealed a striking genetic-environmental interaction: Obesity significantly amplifies the effects of three gene variants that increase risk of nonalcoholic fatty liver disease (NAFLD) by different metabolic pathways. NAFLD, which in its most serious form can lead to chronic liver disease (cirrhosis) and liver cancer, is a growing problem associated with the obesity epidemic. Despite intense study, the relationship between obesity and NAFLD had remained unresolved. Of the three gene variants, or alleles, examined in this study, the strongest genetic-environmental interactions were found in the PNPLA3 gene variant, the first genetic cause of NAFLD ever identified. That variant was identified in The Dallas Heart Study, a longitudinal, multi-ethnic, population-based study directed by Dr. Helen Hobbs (photo), co-senior author of the Nature Genetics study published online on April 24, 2017. Her scientific partner, Dr. Jonathan Cohen (photo), a Professor of Internal Medicine, is also a senior author. The study’s first author is Dr. Stefan Stender, a postdoctoral researcher from Copenhagen University Hospital working in the Department of Molecular Genetics and the Eugene McDermott Center for Human Growth and Development at UT Southwestern. The Nature Genetics article is titled “Adiposity Amplifies the Genetic Risk of Fatty Liver Disease Conferred by Multiple Loci.” “While all obese individuals who have fatty liver disease would benefit from weight loss, our data suggest that those who have the risk allele in PNPLA3 are likely to benefit more,” said Dr. Hobbs, Director of the McDermott Center, a Howard Hughes Medical Institute (HHMI) Investigator, and a Professor of Internal Medicine and Molecular Genetics.

Mechanism Shared by Healing Wounds & Growing Tumors

Like an image in a broken mirror, a tumor is a distorted likeness of a wound. Scientists have long seen parallels between the two, such as the formation of new blood vessels, which occurs as part of both wound healing and malignancy. Research at The Rockefeller University offers new insights about what the two processes have in common—and how they differ—at the molecular level. The findings, described in the April 20, 2017 issue of Cell, may aid in the development of new therapies for cancer. The article is titled” Epithelial-Mesenchymal Micro-niches Govern Stem Cell Lineage Choices.” At the core of both malignancy and tissue mending are stem cells, which multiply to produce new tissue to fill the breach or enlarge the tumor. To see how stem cells behave in these scenarios, a team led by scientists in Dr. Elaine Fuchs’s lab compared two distinct types found within mouse skin. One set of stem cells, at the base of the hair follicle, differentiates to form the hair shaft; while another set produces new skin cells. Under normal conditions, these two cell populations are physically distinct, producing only their respective tissue, nothing else. But when Dr. Yejing Ge, a postdoc in the Fuchs lab, looked closely at gene activity in skin tumors, she found a remarkable convergence: The follicle stem cells expressed genes normally reserved for skin stem cells, and vice versa. Around wounds, the researchers documented the same blurring between the sets of stem cells. Two of the identity-related genes stood out. They code for so-called “master regulators,” molecules that play a dominant role in determining what type of tissue a stem cell will ultimately produce—in this case, hair follicle or skin.

Study Identifies “Night Owl” Gene Variant

If you’ve been a night owl all your life and mornings are your nemesis, you may be able to blame a gene mutation for all those late nights. Researchers at The Rockefeller University in New York City have discovered that a variant of the gene CRY1 slows the internal biological clock—called the circadian clock—that normally dictates when you feel sleepy each night and when you’re ready to wake. People with the so-called “night owl” variant of this gene have a longer circadian cycle than most, making them stay awake later, the team reported in the April 6 , 2017 issue of Cell. The article is titled “Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder.” “Compared to other mutations that have been linked to sleep disorders in just single families worldwide, this is a fairly impactful genetic change,” says senior author Michael W. Young, PhD, the Richard and Jeanne Fisher Professor and Head of Rockefeller’s Laboratory of Genetics. According to the new research, the mutation may be present in as many as one in 75 people in some populations. The Centers for Disease Control and Prevention (CDC) estimate that between 50 and 70 million adults in the U.S. have a sleep or wakefulness disorder. These conditions—ranging from insomnia to narcolepsy—can predispose people to chronic diseases including diabetes, obesity, and depression. People who self-categorize as night owls are often diagnosed with delayed sleep phase disorder (DSPD). Their 24-hour sleep-wake cycle is delayed, making them energetic long after most people have fallen asleep.

Highly Sensitive LC-MS/MS Method for Early Screening of Colorectal Cancer

A highly sensitive method that can detect even the earlier stages of colorectal cancer has been developed by researchers in Japan. Researchers at the Shimadzu Corporation, the Kobe University Graduate School of Medicine, and the National Cancer Center in Japan have collaborated to develop a new screening method that comprehensively analyzes the metabolites in our blood. The results of this research were published in the online edition of Oncotarget, a U.S. scientific publication, on February 4, 2017. The article is titled “Investigations in the Possibility of Early Detection of Colorectal Cancer by Gas Chromatography/Triple-Quadrupole Mass Spectrometry.” Colorectal cancer is one of the most common causes of cancer death, and cases of this cancer are increasing in developed countries. In 2012, a group headed by Associate Professor Yoshida Masaru at Kobe University used gas chromatography-mass spectrometry (GC/MS) and clinical metabolomic analysis methods to analyze serum samples from colorectal cancer patients and healthy subjects. The group succeeded in identifying four metabolite markers that can be used to diagnose colorectal cancer and developed a highly reliable diagnostic prediction model using those markers. This model was considered to be more practical in comparison with existing tumor markers, but it lacked sensitivity and specificity when actually used as a screening method. Following this previous effort, a research team combining members from Shimadzu Corporation and Kobe University developed an analytical approach that enabled much more accurate measurement of metabolites in blood plasma. To achieve this, they used high-speed and high-sensitivity GC-MS/MS, which relies on Shimadzu's Advanced Scanning Speed Protocol (ASSP) and Smart MRM technologies.

Milken Institute Ranks Best U.S. Universities for Technology Transfer, Cites Research Funding & Tech Transfer As Catalysts for Economic Growth, Makes Four Policy Recommendations

On April 20, 2017, the Milken Institute released a new report ranking more than 200 universities across the United States for their prowess in developing basic research into new technologies, products, and companies – a process known as "technology transfer." The report "Concept to Commercialization: The Best Universities for Technology Transfer" ( also carries with it a clear policy recommendation: American research universities are among the nation's most powerful engines for domestic economic growth, and funding to sustain their research brings strong returns in the form of new industries, businesses, and jobs. "American economic vitality is fueled by invention," said Ross DeVol, chief research officer for the Milken Institute, who also authored the original 2006 study on the topic. "As a society, we understand our universities as the training ground for the next generation of leaders and doers, but we often overlook the benefits these institutions impart simply by bringing new ideas to life. Our study shows the impact of university research both locally and nationally is profound, and needs our support." The report found that university research funding supports the creation of both middle- and high-skill industry jobs through innovation, commercialization, and technology transfer, with varied and significant multiplier effects. As such, it makes four key policy recommendations:--Maintain basic scientific research funding. Basic research provides long-term economic benefits by allowing universities to take on research that has a low probability of quick commercial success, but potential to deliver a high reward and to create whole new industries.

April 25th

Promising Candidate for Generation of Photocatalysts for Next Generation of Solar Fuel Production from Earth-Abundant Elements; Process Reduces CO2 and Produces Energy from Incident Blue Light

A chemistry professor in Florida has just found a way to trigger the reduction of carbon dioxide with visible light in a synthetic material, turning greenhouse gases into clean air and producing energy all at the same time. The process has great potential for creating a technology that could significantly reduce greenhouse gases linked to climate change, while also creating a clean way to produce energy. "This work is a breakthrough," said University of Central Florida (UCF) Assistant Professor Fernando Uribe-Romo. "Tailoring materials that will absorb a specific color of light is very difficult from the scientific point of view, but from the societal point of view we are contributing to the development of a technology that can help reduce greenhouse gases." The findings of his research were published online on April 7, 2017 in the Journal of Materials Chemistry A. The article is titled “Systematic Variation of the Optical Bandgap in Titanium-Based Isoreticular Metal-Organic Frameworks for Photocatalytic Reduction of CO2 Under Blue Light.” Dr. Uribe-Romo and his team of students created a way to trigger a chemical reaction in a synthetic material called metal-organic frameworks (MOF) that breaks down carbon dioxide into harmless organic materials. Think of it as an artificial photosynthesis process similar to the way plants convert carbon dioxide (CO2) and sunlight into food. But instead of producing food, Dr. Uribe-Romo's method produces solar fuel. To see an explanation see this YouTube video: It is something scientists around the world have been pursuing for years, but the challenge is finding a way for visible light to trigger the chemical transformation.

Lyme Disease Researchers Seek Consensus As Number of Cases Grows

Scientists have assembled a large body of knowledge about Lyme disease over the past 40 years, yet controversies remain and the number of cases continues to rise. In the United States, reported cases of Lyme disease, which is transmitted from wild animals to humans by tick bites, have tripled in the past 20 years. A multitude of interacting factors are driving the increase in Lyme disease cases, but their relative importance remains unclear, according to Marm Kilpatrick, PhD, a Professor of Ecology and Evolutionary Biology at the University of California (UC) at Santa Cruz. Nevertheless, he noted that there are a number of promising strategies for controlling the disease that have not been widely implemented. Dr. Kilpatrick is lead author of a paper published April 24, 2017 in Philosophical Transactions of the Royal Society B that examines the complex array of factors influencing the prevalence of Lyme disease And Identifies The Major Gaps In Understanding That Must Be Filled To Control This Important Disease. The Paper Is Titled “Lyme Disease Ecology In A Changing World: Consensus, Uncertainty And Critical Gaps For Improving Control.” Some of the unresolved issues are highly contentious, so Dr. Kilpatrick sought input for the paper from a wide range of Lyme disease researchers and developed a consensus on areas of agreement. "I wanted to address these big disputes. We've done so much work, let's identify what the gaps are and fill them so we can move on," he said. A key missing piece in the Lyme disease puzzle is that scientists lack a detailed understanding of what limits populations of the Ixodes ticks that transmit the disease. Deer are the most important hosts for adult ticks, so the ticks are mostly absent from areas with no deer. But efforts to control ticks by reducing deer populations have had mixed results.

JAMA Study & Planned Clinical Trials Offer Fresh Hope for Children with Rare Brain Disease (Glut1 Deficiency)

Anna Gunby can’t run around as smoothly as most 4-year-olds because her wobbly legs are affected by a rare brain disease that also hinders her intellect. She can’t identify colors. She can’t count objects. Her attention span is short. “But there’s definitely hope,” said Anna’s mother, Courtney Gunby. “Maybe one day she’ll be able to live on her own, operate a vehicle or go swimming by herself. There’s hope that she could have some sense of normalcy to her life.” A newly published study led by investigators in the University of Texas (UT) Southwestern’s Peter O’Donnell Jr. Brain Institute has offered novel insight into how a newly designed diet can help children like Anna cope with Glut1 deficiency – a rare disease that severely inhibits learning and muscle control by starving the brain of glucose, its main energy source. And scientists are already beginning to expand on the findings that were published in JAMA Neurology by testing an edible oil that smaller studies indicate can improve cognitive abilities in patients. Combining the new diet with the supplemental oil derived from castor beans could provide a life-changing treatment that trail blazes a brighter future for thousands of children in the U.S., who otherwise face a lifetime of stunted brain function. Patients with Glut1 deficiency usually can’t learn beyond an elementary school level and often can’t live independently as adults. “We’re talking about helping people be independent from their parents. The question every parent asks is, ‘Will my child be able to have an independent life when we’re gone?’ Right now it’s very questionable whether they’ll be able to achieve independence,” said Dr. Juan Pascual, Associate Professor of Neurology and Neurotherapeutics, Pediatrics, and Physiology at UT Southwestern Medical Center. Dr.