Dr. Trimmer[/caption]
Dr. Casey Trimmer, PhD
Geneticist, was a post-doctoral fellow at the
Monell Center when the research was conducted
MedicalResearch.com: What is the background for this study?
Response: We detect odors using 400 different types of sensor proteins, called olfactory receptors, in our noses. An odor molecule activates a specific combination of these receptors, and this pattern of activation gives us information on what we're smelling--whether its floral or smoky, intense or weak, and how much we like it. However, how the system translates receptor activation to these perceptual features is largely unknown. Here, we take advantage of the extensive genetic variation in the OR gene family to understand the contribution of individual ORs to odor perception. By studying cases where the function of a particular OR is lost, we can examine what kinds of perceptual alterations occur, allowing us to link receptor to odor and understand what kind of information the receptor is encoding.
Data linking genetic variation to perceptual changes exist for only 5 ORs. Here, we examined the perceived intensity and pleasantness of 68 odors in 332 participants. We used next-generation genome sequencing to identify variants in 418 OR genes and conducted a genetic association analysis to relate this variation to differences in odor perception. We then use a cell-based assay to examine receptor function and investigate the mechanisms underlying our associations. Finally, we examined the contribution of single OR genotype, genetic ancestry, age, and gender to variations in odor perception.
Dr. DeFelice[/caption]
Nicholas B. DeFelice, PhD
Department of Environmental Medicine & Public Health
Icahn School of Medicine at Mount Sinai
New York, New York
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Effective allocation of public health resources during an outbreak is complicated and often reactive. Thus, it is important that we develop quantitative tools that can accurately and rapidly forecast the progression of an outbreak and provide decision support. Recently, several advancements have been made in the realm of infectious disease forecasting: it is a field that is growing in exciting directions. However, for these forecasting tools to work in real time, we must understand how the forecasting apparatus and observational network work in real time to ensure they are sufficient to support accurate operational predictions.
We previously showed that accurate and reliable forecasts of West Nile virus outbreaks can be made using surveillance data and a mathematical model representing the interactions between birds, mosquitoes and risk of human spillover. This model system was able to retrospectively forecast mosquito infection rates prior to the week of peak mosquito infection, and to forecast accurately the seasonal total number of human West Nile virus cases prior to when the majority of cases were reported.
For this study, we were interested in the data flow process and the question of whether appropriate infrastructure is in place to support real time forecasting. If this forecast system were made operational in real time, public health officials would have an evidence-based decision-support tool to help
1) actively target control of infected mosquito populations (i.e., larviciding and adulticiding),
2) alert the public to future periods of elevated West Nile virus spillover transmission risk, and
3) identify when to intensify blood donor screening.
Dr. Ahluwalia[/caption]
Dr. Jusleen Ahluwalia MD
Second-year Dermatology resident
University of California, San Diego
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Preadolescence is an interesting stage during which changes in microbial diversity can coincide with the development of acne. This study is the largest assessment of preadolescent acne microbiome in the literature to date.
In this study, we found that early acne in preadolescent females is characterized by an abundance of Streptococcus mitis, while later stages are characterized by a predominance of Cutibacterium acnes (formerly known as Propionibacterium acnes).
Prof. Hemmer[/caption]
Prof. Bernhard Hemmer MD PhD
Director of the Neurology Clinic
Technische Universität München
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: The course of multiple sclerosis (MS) is still highly unpredictable and reliable markers to predict disability progression are largely missing. We found that patients with a high IgG Index, which means that the produce large amount of IgG within the CNS, have a higher risk of disease worsening during the first 4 years. I would consider patients with an elevated IgG index at a higher risk to run a more severe disease course. The marker could be used together with others to guide treatment decisions after multiple sclerosis diagnosis.
Dr. Largent[/caption]
Emily Largent, PhD, JD, RN
Assistant Professor, Medical Ethics and Health Policy
Perelman School of Medicine
Leonard Davis Institute of Health Economics
University of Pennsylvania
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Public support for aid in dying in the United States is rapidly growing. As a result, we’re now seeing debates about whether to expand access to aid-in-dying to new populations – such as people with Alzheimer’s disease – who wouldn’t be eligible under current laws.
With those debates in mind, we asked currently healthy people who recently learned about their risk for developing Alzheimer’s disease dementia (i.e., due to the presence of amyloid, an Alzheimer’s disease biomarker) whether they would be interested in aid-in-dying.
Our findings suggest that about 20% of individuals with elevated amyloid may be interested in aid-in-dying if they become cognitively impaired.
Dr. Jones[/caption]
Steven J.M. Jones, Professor, FRSC, FCAHS
Co-Director & Head, Bioinformatics
Genome Sciences Centre
British Columbia Cancer Research Centre
Vancouver, British Columbia, Canada and
Jasleen Grewal, BSc.
Genome Sciences Centre
British Columbia Cancer Research Centre
Vancouver, British Columbia, Canada
MedicalResearch.com: What is the background for this study?
Response: Cancer diagnosis requires manual analysis of tissue appearance, histology, and protein expression. However, there are certain types of cancers, known as cancers of unknown primary, that are difficult to diagnose based purely on their appearance and a small set of proteins. In our precision medicine oncogenomics program, we needed an accurate approach to confirm diagnosis of biopsied samples and determine candidate tumour types for where the primary site of the cancer was uncertain. We developed a machine learning approach, trained on the gene expression data of over 10,688 individual tumours and healthy tissues, that has been able to achieve this task with high accuracy.
Genome sequencing offers a high-resolution view of the biological landscape of cancers. RNA-Seq in particular quantifies how much each gene is expressed in a given sample. In this study, we used the entire transcriptome, spanning 17,688 genes in the human genome, to train a machine learning method for cancer diagnosis. The resultant method, SCOPE, takes in the entire transcriptome and outputs an interpretable confidence score from across a set of 40 different cancer types and 26 healthy tissues.
Dr. Quynh-Nhu[/caption]
Quynh-Nhu Nguyen, MD
Department of Radiation Oncology
The University of Texas MD Anderson Cancer Center
Houston
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: This is the first non-spine bone metastases trial comparing higher dose single fraction radiotherapy vs multifraction standard fractionated radiotherapy for patients with painful bone metastases.
The results of this trial demonstrated more durable pain relief and superior local control for patients treated in the higher dose(12 Gy-16 Gy) single fraction RT compared to standard 30 Gy/10 fractions multifractionated regimen. This trial supports the previous multiple randomized trials which recommend single fraction should be standard palliative radiotherapy regimen for bone metastases. This trial is unique in that it addressed previous criticism that single fraction does not provide durable palliation with lower 8 gy single fraction and result in higher re-irradiation rates. This trial on the contrary with the utilization of modern radiotherapy techniques, demonstrated we can safely and more effectively deliver a higher single fraction radiotherapy regimen for improvement in the quality of life for patients. This higher dose should be the new standard single fraction regimen for patients who are functional and have a longer life expectancy.
Dr. Tucker[/caption]
Joan S. Tucker, Ph.D.
Senior Behavioral Scientist
RAND Corporation
Santa Monica, CA
MedicalResearch.com: What is the background for this study?
Response: In light of young adults’ expanding access to cannabis through legalization for recreational use, there has been growing interest in the co-use of cannabis with tobacco/nicotine products. Although existing data show that young adults who use cannabis products also tend to use tobacco/nicotine products, little is known about how these products are typically used together.
Existing research on co-use has mostly focused on combustible products, not accounting for the recent proliferation in cannabis and tobacco/nicotine product types and methods of use (e.g., vaping). Further, not much is known about whether there are important differences between types of co-use (e.g., using both products on the same occasion, one right after another, but not mixing them vs. using both products by mixing them in the same delivery device) in terms of heaviness of use, consequences from use, or associations with young adult functioning.
This study was designed as an important first step toward understanding cannabis and tobacco/nicotine co-use behavior among young adults and addressing these gaps in the research literature.
Dr. Schwartz[/caption]
Dr. Joseph A Schwartz PhD
Public Affairs and
Community Service, Criminology and Criminal Justice
University of Nebraska Omaha, Omaha, NE
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: My larger research agenda is focused on identifying the ways in which environmental and biological influences work collectively to shape behavioral patterns across major stages of the life course. I am particularly interested in identifying environmental influences that can change biological functioning or activity to result in behavioral change.
Brain injury was a natural progression of these interests since brain injury is expected to result in changes in the structure and functioning of the brain, which has been linked to meaningful changes in behavior. There have also been a sizable number of studies that indicate that justice involved populations experience brain injury at a rate that is between five and eight times what is observed in the general population. I was fascinated by this finding and thought that brain injury may be a good candidate influence to investigate further.
Dr. Mintzes[/caption]
Dr Barbara Mintzes PhD
Associate Professor
The University of Sydney Charles Perkins Centre and School of Pharmacy
Faculty of Medicine and Health
The University of Sydney
MedicalResearch.com: What is the background for this study?
Response: When medicines are approved for marketing, the information available on rare serious harmful effects, longer-term effects, and outcomes in vulnerable populations is often limited. New serious safety concerns often arise when a medicine is already on the market. In many cases these can be managed for example through dose reductions or avoiding prescribing to at-risk patients. Drug regulatory agencies such as the US FDA often issue safety warnings to let health professionals and the public know about new evidence of potential harm and often to provide advice on how to avoid this.
We were interested to know how consistent these warnings are between different countries. This is a research project funded by Australia’s National Health and Medical Research Council and the Canadian Institutes of Health Research. We examined warnings for medicines in Australia, Canada the US and the UK over a 10-year period, from 2007 to 2016 inclusive. We were looking at how often regulators issue the same warning if the drug is approved for marketing at the time.
Dr. Grewal[/caption]
Keerat Grewal, MD, MSc, FRCPC
Schwartz/Reisman Emergency Medicine Institute
Mount Sinai Hospital
Toronto, ON
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Patients with cancer have complex care requirements and often use the emergency department. The purpose of our study was to determine whether continuity of care, cancer expertise, or both, impact outcomes among cancer patients in the emergency setting. Using administrative data we looked at adult patients with cancer who received chemotherapy or radiation therapy in the 30 days prior to an emergency department visit.
Dr. Lind[/caption]
Monica Lind, PhD,
Professor, Environmental toxicologist
Occupational and Environmental Medicine
Uppsala University Hospital
Visiting adress: Dag Hammarskjölds väg 60
Uppsala Sweden
MedicalResearch.com: What is the background for this study?
Response: Previous studies in workers exposed to very high levels of polychlorinated biphenyls (PCBs) have suggested hazardous health effects. However, circulating PCB levels are detected in almost all indivuduals in industrialized countries, but the health effects of moderately elevated levels as seen in the general population are not well established.
We investigated levels of PCBs in around 1,000 individuals, all aged 70 years, randomly chosen from the City of Uppsala, Sweden.
Dr. Hwang[/caption]
Dr Daniel Hwang PhD
Postdoctoral Research Fellow
The University of Queensland Diamantina Institute
MedicalResearch.com: What is the background for this study?
Response: The aim of the this study is to understand the genetic basis of human taste perception. In this international collaboration project, we started by collecting sensory data from twins in the Australia and USA since 2003. Based on the difference in the genetic relatedness between identical and non-identical twins, our previous studies have quantified the amount of genetic influence on sweet taste perception (https://doi.org/10.1017/thg.2015.42) as well as the other sensory phenotypes (https://doi.org/10.1093/chemse/bjs070).
Dr. Scurrah[/caption]
Katrina Scurrah PhD
Senior Research Fellow (Biostatistician), Twins Research Australia, and Melbourne School of Population and Global Health, The University of Melbourne and
Honorary Fellow, Murdoch Childrens Research Institute.
MedicalResearch.com: What is the background for this study?
Response: Oral health is an important component of general health and yet dental caries (decay) is still common in children (affecting up to one in three 5-6 year old children in Australia). Although we know that some genetic and lifestyle factors (such as diet) are important risk factors for caries, the relative importance of these is still unclear. Risk factors from pregnancy and very early childhood (even before teeth appear) might also be important. This study is the first to include prospectively measured data on health and well-being from pregnancy, birth and early childhood in a study of twin children. We analysed data from a cohort of 172 pairs of twin children to assess the effects of genes and environment on susceptibility to dental caries at six years-of-age.
Dr. LaRue[/caption]
Leah LaRue, PharmD, PMP
Associate Director, Clinical Affairs
Millennium Health
MedicalResearch.com: What is the background for this study?
Response: Drug overdose deaths continue to increase, despite the leveling off of prescription opioid use and policy changes limiting opioid prescribing. While fentanyl has garnered most of the attention, overdose deaths involving cocaine and methamphetamine also have increased markedly over the past few years. It is possible that those increases are due not just to those drugs, but to concomitant use with fentanyl.
To better understand what is causing this rapid increase in overdose deaths, it is important to characterize the emerging combination of other illicit drugs with fentanyl, which increases the risk of overdose. The purpose of this study was to determine whether rates of the combination of nonprescribed fentanyl with cocaine or methamphetamine have changed in urine drug test (UDT) results through time.
Dr. Jaddoe[/caption]
Vincent W. V. Jaddoe, MD, PhD
Adjunct Professor of Epidemiology
Department of Epidemiology
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Childhood body fat may be affected by patterns of fetal and infant weight change. Children born small for gestational age (SGA) tend to have infant growth acceleration, whereas those born large for gestational age (LGA) tend to have infant growth deceleration. Little is known about fetal and infant growth patterns affecting visceral, liver, and pericardial fat, which are strongly associated with cardiometabolic disease in later life.
We assessed in a large population cohort study whether fetal and infant weight change was associated with not only general, but also organ fat at school age. We observed that fetal and infant weight change patterns were both associated with childhood body fat, but weight change patterns in infancy tended to have larger effects. Fetal growth restriction followed by infant growth acceleration was associated with increased visceral and liver fat.
Dr. Venkatesan[/caption]
Dr. Jay Venkatesan MD
President and CEO of Angion
Dr. Venkatesan discusses the recent announcement that ANGION, has received DOD funding for the study of ANG-3070, in treatment of CKD caused by focal segmental glomerulosclerosis,
MedicalResearch.com: What is the background for this announcement? Would you tell us a little about focal segmental glomerulosclerosis (FSGS)? How does ANG-3070 work to prevent kidney scarring?
Response: Angion has received a follow-on grant from the Department of Defense (DoD) for $4.76 million in support of the development of ANG-3070, our drug candidate for a form of chronic kidney disease known as focal segmental glomerulosclerosis (FSGS). This funding will allow us to expand our proof-of-concept data for ANG-3070 as a potential anti-fibrotic agent for slowing the progression of FSGS.
FSGS is a serious kidney disorder characterized by progressive scarring of the glomeruli, the filtering units of the kidney. There are approximately 80,000 cases of FSGS in the U.S. and Europe, involving both children and young adults. If uncontrolled, FSGS can lead to kidney failure, which may lead to the need for dialysis or a kidney transplant. No therapies exist that treat the underlying cause of FSGS. Therapies such as corticosteroids, immunosuppressants or diuretics are used, but are mainly supportive and a large proportion of patients progress to end-stage renal disease over a 5-10 year period of time.
ANG-3070 is an oral small molecule that selectively inhibits molecular pathways associated with scarring or fibrosis in the kidney and other organs. Our current preclinical study in collaboration with NEPTUNE aims to identify the “signalosome,” or human disease and drug response profile based on the genes, networks and pathways that correlate with the therapeutic activity of ANG-3070 in FSGS. Ultimately, this collaboration will allow us to develop a precision medicine approach to identify and treat patients in whom ANG-3070 is most likely to block the pathways causing FSGS.
Dr. Domenech de Cellès[/caption]
Dr. Matthieu Domenech de Cellès PhD
Biostatistics, Biomathematics, Pharmacoepidemiology, and
Infectious Diseases Unit, Institut Pasteur, Inserm U1181,
University of Versailles St-Quentin-en-Yvelines,
Versailles, France
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Most high-income countries now use acellular pertussis vaccines (called DTaP, which are sub-unit vaccines based on purified antigens of the bacterium Bordetella pertussis) to protect children against pertussis. Although clinical trials demonstrated the short-term effectiveness of DTaP vaccines, there was a growing concern that the duration of protection they conferred was not very long. Those concerns were mostly based on the results of a number of epidemiological studies, which showed that the relative risk of contracting pertussis increased substantially over time, typically by 20–40% every year since last vaccination.
Although such increases seem high, it was not immediately obvious how to interpret them—the more so because pertussis epidemiology is complex.
In our study, we developed mathematical models of pertussis epidemiology to try to understand what the results of recent epidemiological studies really meant about the effectiveness and the duration of protection of DTaP vaccines. The most interesting—and perhaps counterintuitive—finding of our study was that those results are fully consistent with highly effective DTaP vaccines, which confer long-term protection. This is a consequence of the fact that pertussis is highly contagious and that the immunity conferred by DTaP, though very high, is not perfect.
Dr. Yi Liu
Department of ophthalmology,
Beijing Tongren Hospital,
Beijing, P.R.China
MedicalResearch.com: What is the background for this study?
Response: Though rare, sports-related ocular traumas may result in devastating and disabling consequences. Badminton is popular in Southeast Asia, such as in Malaysia, Philippines, Indonesia, and China. It is in the leading cause list of sport-related ocular injury. Badminton related ocular injuries were also occurred and reported in western countries such as Canada, Australia. The popularity of badminton is partially because it is considered relatively safe, as it does not involve physical contact. The growing popularity of badminton has led to an increased incidence of physical and ocular injuries. Although the latter are uncommon, they can lead to significant ocular morbidity and some patients suffer a permanent decrease in vision, and even blindness.
We believe that the awareness of badminton-related ocular injuries is of great importance. The main purpose of this study was to summarize the clinical sports-related features of 85 patients with badminton related ocular injuries and made preventive recommendations to the general population from ocular injuries in badminton playing.
Dr. Malaspina[/caption]
Dolores Malaspina MD, MS, MSPH
Professor or Psychiatry, Neuroscience,
Genetics and Genomic Sciences
Icahn School of Medicine at Mt Sinai
Department of Psychiatry
New York, NY 10128, USA
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Schizophrenia is a severe disorder that presents in late adolescence or early adulthood with declining function, social withdrawal and psychotic symptoms such as auditory hallucinations and fixed false beliefs. It is a common condition, affecting 1% of the population, which can be not yet be prevented or cured. Its causes are still puzzling.
Evidence from many different research approaches now suggests that an overactive immune system plays some role in causing schizophrenia, but the origins of the immune dysfunction are not known.
We considered that too brief a period of sexual contact between parents could cause immune activation in offspring and thus be a risk factor for schizophrenia.
With repeated sexual contact the maternal immune system develops tolerance to genetic material from the father. Otherwise, inflammatory processes may restrict the placental blood supply between the fetus and mother.
Dr. Breithaupt[/caption]
Lauren Breithaupt, PhD
Department of Psychology
George Mason University
Fairfax, Virginia
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Our study provides novel insight into the relationship between the immune system and eating disorders characterized by chronic restriction (e.g., anorexia nervosa) and binge eating and/or purging (e.g., binge eating disorder, bulimia nervosa). These findings also add to the growing body of literature linking the immune systems broadly and mental disorders.
We found that infections in early childhood were associated with an increased risk of anorexia nervosa, bulimia nervosa, and other eating disorders such as binge eating disorder in adolescence. These relationships appear to be both time and dose-dependent, meaning that the onset of eating disorder diagnosis is greatest in the first three months following the infection, and the more infections, the greater the risk.
Dr. Connor[/caption]
Kip Connor, Ph.D.
Harvard Medical School
Associate Professor of Ophthalmology
Department of Ophthalmology
Massachusetts Eye and Ear
MGH ECOR Ophthalmology Representative
Associate Scientist
MedicalResearch.com: What is the background for this study?
Response: Classically, the retina and the central nervous system (CNS) have long been considered immunoprivileged sites within the body. This is not to say that these sites lack immunity; rather, they are capable of exhibiting a contained yet modifiable form of immunological response. Indeed, an intricate immune surveillance system exists within the retina that can interact with the retinal cellular milieu both during development and in response to injury or disease. While activation of this surveillance system can help protect and repair the delicate neural tissue of the retina in certain disease states, over-activation of this system can exacerbate disease pathology, thereby worsening vision loss.
Microglia are the resident immune cells of the central nervous system, including the retina, and are thought to function acutely in the homeostatic maintenance of the neuro-retinal microenvironment. However in chronic conditions, like autoimmune uveitis, we hypothesized that microglia become neurodegenerative.
In our current study we show for the first time a role for microglia in directing the initiation of this autoimmune disease by orchestrating the inflammatory response within the retina through the retinal vessels.
Dr. Zarrinpar[/caption]
Amir Zarrinpar, MD, PhD
Assistant Professor, Division of Gastroenterology
University of California, San Diego
MedicalResearch.com: What is the background for this study?
Response: Over the last decade, physicians are beginning to recognize obesity as a disease that requires specific attention; they are more engaged with treating obesity itself rather than its metabolic consequences (such as type 2 diabetes, high blood pressure, cholesterol problems, and/or non-alcoholic fatty liver disease). However, treating obesity is very difficult and many patients don’t succeed in getting the minimum weight loss (approximately 5%) needed to get beneficial health effects. Recent obesity treatment guidelines recommend avoiding placing patients who are obese on obesogenic medication, or medication that have weight gain as a significant side effect.
Despite this recommendation, we noticed many patients who seek treatment for obesity in our clinics are on obesogenic medications. We first noticed that about 40% of patients who are undergoing bariatric surgery at UCSD were prescribed an obesogenic medication. These patients had worse weight loss outcomes compared to patients who did not have any obesogenic medications published that study recently in the International Journal of Obesity.
We wondered whether these findings were specific to bariatric surgery or if patients who were undergoing behavioral treatment (that is, diet and exercise) also had poor weight loss outcomes if they were on obesogenic medications.