Author Interviews, Biomarkers, Multiple Sclerosis / 05.04.2017

MedicalResearch.com Interview with: [caption id="attachment_33692" align="alignleft" width="200"]Dr. Chase Spurlock, Ph.D. Executive Officer at IQuity, Inc Nashville, Tennessee Dr. Chase Spurlock[/caption] Dr. Chase Spurlock, Ph.D. Executive Officer at IQuity, Inc Nashville, Tennessee IQuity is working to further develop RNA technologies that can be used to diagnose and treat Multiple Sclerosis. IQuity hopes to develop a ‘disease activity test’, which would help physicians determine when a patient is likely to relapse so that treatments can be timed for best effect.   MedicalResearch.com: What is the background for IQuity? What are its goals and mission? Response: IQuity, Inc. is a biotechnology company that focuses on the research and development of innovative specialty diagnostic technology, specifically for autoimmune diseases. Our research has shown that autoimmune patients have distinct RNA expression patterns in their blood, and we have figured out how to leverage machine learning methods to analyze these RNA expression patterns and test for the presence of diseases like multiple sclerosis, IBS/IBD (Crohn’s and ulcerative colitis) and fibromyalgia. We collected patient samples from around the globe to match their RNA profiles against healthy and sick patient profiles we identified through our previous research. These tests led to the development of IQIsolate, our technology that informs the suite of tests which, when used even at the earliest onset of symptoms, can give providers information to rule in or rule out a suspected autoimmune disease with more than 90% accuracy. Our mission is to relentlessly pursue innovation in specialized diagnostic and analytic technology, identifying complicated autoimmune and autoimmune-related diseases at the earliest signs of symptoms. We strive to enable providers to diagnose early and treat sooner in the disease progression to improve long-term outcomes, lower the overall cost of lifelong autoimmune diseases and minimize the uncertainty and fear patients experience during prolonged diagnosis periods.
Author Interviews, Biomarkers, Heart Disease / 31.03.2017

MedicalResearch.com Interview with: [caption id="attachment_33595" align="alignleft" width="141"]Szilard Voros, MD, FACC, FSCCT, FAHA CEO of Global Genomics Group Dr. Voros[/caption] Szilard Voros, MD, FACC, FSCCT, FAHA CEO of Global Genomics Group  MedicalResearch.com: What is the background for this study? What are the main findings? Response: Atherosclerotic coronary artery disease (ASCAD) is the leading cause of death and morbidity in the United States and worldwide, despite relatively successful medical therapies such as statins, like Zocor or Lipitor. A significant majority of patients with ASCAD present with sudden cardiac arrest, and the clinical evaluation of those patients who present with chest pain to their physicians is very inefficient. Based on current clinical guidelines, patients who present to their physician with complaints of new onset chest pain or its equivalent, such as exertional dyspnea should be assessed for the probability of the presence of significant ASCAD based on simple clinical predictors. Approximately 60% of such patients have an intermediate probability, and they are typically referred for initial non-invasive evaluation, such as a stress test with cardiac imaging, or for some other type of non-invasive test. Strikingly, no more that 5% of such stress tests performed in the United States are actually positive, and even when patients with positive stress test are taken for invasive coronary angiography, no more than 40% have significant ASCAD. A blood test that could serve as first step, as a “gatekeeper”, to non-invasive evaluation, would be highly desirable. Global Genomics Group, or G3, has performed one of the largest, unbiased, mass-spectrometry-based discovery studies in over 1,000 patients who underwent detailed cardiac CT to assess the presence or absence of ASCAD, by measuring over 1,000 metabolites from the blood. Using sophisticated bioinformatics tools, the researchers identified 8 important metabolites that were significantly abnormal in patients with ASCAD, and generated a biomarker signature for the detection of ASCAD based on those analytes, called “knowPLAQUETM”. The biomarker signature was generated in approximately 800 subjects, and was validated in an independent set of approximately 400 subjects, showing an area under the curve (“AUC”) of 0.82 for the diagnosis of Atherosclerotic coronary artery disease. This biomarker signature can be adapted relatively easily on commercial mass spectrometry platforms, and the researchers anticipate that this signature may be available for physicians to use by 2018. In addition to its diagnostic power, this biomarker signature also has uncovered important biological insights for the development of ASCAD, which can be leveraged for therapeutic purposes.
Author Interviews, Biomarkers, Heart Disease, JAMA / 30.03.2017

MedicalResearch.com Interview with: Stefan Kiechl, MD and Karin Willeit, MD Department of Neurology Medical University Innsbruck Innsbruck, Austria  MedicalResearch.com: What is the background for this study? Response: Atrial fibrillation (AF) is the most common cardiac arrhythmia and a major contributor to thromboembolic stroke and population morbidity and mortality. Aside from well-established risk factors such as age, heart failure, and hypertension, inflammation has been suggested to play a significant role in the pathogenesis of AF. This is evidenced by histologic studies that found marked inflammatory infiltrates in atrial biopsies of AF patients and by epidemiological studies demonstrating an association of circulatory inflammation markers with incident AF. Of note, an increased endocardial expression of vascular intercellular adhesion molecule 1 (VCAM-1), a mediator of leukocyte trafficking, during rapid atrial pacing was demonstrated which was shown to contribute to an inflammatory and prothrombotic environment within atrial tissue. Because it is still unclear whether inflammation related to AF is primarily a systemic or localized phenomenon, we sought to examine the association of 13 baseline inflammation markers with incident atrial fibrillation in the prospective population-based Bruneck Study and to replicate key findings in a second cohort, the SAPHIR Study.
Author Interviews, Biomarkers, Breast Cancer, Genetic Research, Yale / 29.03.2017

MedicalResearch.com Interview with: [caption id="attachment_33526" align="alignleft" width="133"]Tara Sanft, MD Assistant Professor of Medicine (Medical Oncology) Medical Director of Adult Survivorship Yale Cancer Center Survivorship Clinic Dr. Tara Sanft[/caption] Tara Sanft, MD Assistant Professor of Medicine (Medical Oncology) Medical Director of Adult Survivorship Yale Cancer Center Survivorship Clinic  MedicalResearch.com: What is the background for this study? Response: Previous studies have demonstrated the benefit of extended endocrine therapy (EET) for hormone receptor-positive (HR+) breast cancer in preventing late relapse, however that benefit is limited to 3-5% of women where late recurrence was prevented or staved off. However, EET has become common practice and as a result we are exposing many patients to risks of side effects and toxicities associated with anti-estrogen therapies when they may not be benefitting, and, conversely may not be treating the patients that might actually benefit. There is a real need to better identify the patients who are both at most risk of late distant recurrence, and most likely to benefit from EET. This prospective study included 141 patients with a mean age of 62. In the study, 83% of patients were postmenopausal, 73% were stage I. Breast Cancer Index (BCI) is a gene expression-based test and is the only currently available validated biomarker that is both prognostic for late distant recurrence and predictive for likelihood of benefit from EET. The purpose of this prospective study was to assess the impact of BCI on: physician EET recommendations; physician confidence; patient satisfaction, anxiety, and decision-conflict; and the cost impact of BCI.
ALS, Author Interviews, Biomarkers, Neurology / 24.03.2017

MedicalResearch.com Interview with: [caption id="attachment_33425" align="alignleft" width="168"]Mary-Louise Rogers, PhD Senior Research Fellow, Lab Head, Motor Neurone Disease and Neurotrophic Research Laboratory, Department of Human Physiology, Centre for Neuroscience, Flinders University, School of Medicine, South Australia, Australia Dr. Rogers[/caption] Mary-Louise Rogers, PhD Senior Research Fellow, Lab Head, Motor Neurone Disease and Neurotrophic Research Laboratory, Department of Human Physiology, Centre for Neuroscience, Flinders University, School of Medicine, South Australia, Australia MedicalResearch.com: What is the background for this study? What are the main findings? Response: ALS is a fatal neurodegenerative disease in which motor neurons, cells that control muscle activity such as walking, talking and breathing, gradually die off, resulting in paralysis. There is no cure for ALS. In a groundbreaking study published in the journal Neurology, and led by Mary-Louise Rogers, Ph.D., senior research fellow at Flinders University, Australia, and Michael Benatar, M.D., Ph.D, University of Miami, Miller School of Medicine,  have identified concentrations of p75ECD, the extracellular domain on the common neurotrophin receptor p75, as the first biological fluid-based biomarker for ALS progression. . Neurotrophin receptor p75 is a growth factor receptor for neurotrophins whom promote the survival of nerve cells. Under normal circumstances, it is highly expressed on motor neurons during development but decreases after birth. Following nerve injury, however, the expression of p75 is increased and the extracellular domain of p75 is detectable in urine. Dr Rogers and her Doctoral student Stephanie Shepheard hypothesized and then showed, that p75ECD is excreted into the urine of SOD1 mice, the most commonly used animal model of ALS. These findings empowered further investigation of p75ECD, showing raised levels in the urine of patients with ALS and that it might have potential as an ALS biomarker.
Author Interviews, Biomarkers, Exercise - Fitness, Osteoporosis / 23.03.2017

MedicalResearch.com Interview with: [caption id="attachment_33251" align="alignleft" width="117"]Pamela S. Hinton, Ph.D. Associate Professor & Director of Graduate Studies Department of Nutrition and Exercise Physiology Columbia MO 65211 Dr. Hinton[/caption] Pamela S. Hinton, Ph.D. Associate Professor & Director of Graduate Studies Department of Nutrition and Exercise Physiology Columbia MO 65211 MedicalResearch.com: What is the background for this study? What are the main findings? Response: This study builds on our previous work showing that weight-bearing, high-impact physical activity throughout the lifespan is associated with greater bone mass in men.  We previously conducted a 12-month randomized trial of the effectiveness of resistance training versus jump training to increase bone mass in men with low bone density of the hip or lumbar spine. The current study is a follow up study investigating how exercise might work to increase bone mass. The main findings are that exercise reduced circulating levels of a bone protein that inhibits bone formation (sclerostin) and increased levels of insulin-like growth factor-I (IGF-I), a hormone with osteogenic effects.
Author Interviews, Biomarkers, Breast Cancer, Genetic Research, Journal Clinical Oncology / 21.03.2017

MedicalResearch.com Interview with: Anne Kuijer, MD Departments of Surgery and Radiology University Medical Center Utrecht and Thijs van Dalen, PhD Department of Surgery Netherlands Cancer Institute, Amsterdam MedicalResearch.com: What is the background for this study? What are the main findings? Response: In recent years it has become evident that clinicopathological factors fail to accurately determine prognosis in hormone receptor positive early stage breast cancer patients at intermediate risk of developing metastases. Gene-expression profiles, such as the 70-gene signature (MammaPrint) are therefore increasingly used for chemotherapy decision-making. In the current multicentre study we assessed the impact of 70-gene signature use on chemotherapy decisions in these patients. We demonstrated that, without the use of the 70-gene signature, half of patients was advised chemotherapy, which reflects the current controversy regarding chemotherapy benefit. Use of the 70-gene signature changed the chemotherapy advice in half of all patients and adherence to the 70-gene signature result was high.
Author Interviews, Biomarkers, Cancer Research, Genetic Research, Nature, UCSD / 07.03.2017

MedicalResearch.com Interview with: [caption id="attachment_32737" align="alignleft" width="153"]Kun Zhang, PhD Professor UCSD Department of Bioengineering La Jolla, CA 92093-0412 Dr. Kun Zhang[/caption] Kun Zhang, PhD Professor UCSD Department of Bioengineering La Jolla, CA 92093-0412 MedicalResearch.com: What is the background for this study? What are the main findings? Response: We have been interested in a type of chemical modification on the DNA, called CpG methylation, for years. This is like a decoration of DNA molecules that is specific to the cell type or tissue type. We were particularly interested in studying how such decoration spread along the DNA molecules. In this study, we did a very comprehensive search of the entire human genome for various human cell types and tissue types, and found close to 150,000 regions (called MHB in this study) in which adjacent CpG share the same decoration. We then went on to find out how many of such regions are unique to each normal cell/tissue type, and how many are specific to cancers. Then we took some of these highly informative regions as “biomarkers”, and showed that we can detect the absence or presence of cancer, and, in the latter case, where the tumor grow, in a patient’s blood.
Allergies, Asthma, Author Interviews, Biomarkers, Sleep Disorders / 07.03.2017

MedicalResearch.com Interview with: Rauno Joks, MD Associate Professor of Clinical Medicine Chief, Division of Allergy & Immunology Program Director, Allergy &Immunology Fellowship SUNY Downstate Medical Center MedicalResearch.com: What is the background for this study? What are the main findings? Response: There are circadian and circannular patterns to many diseases, including allergy and asthma. Humans spend roughly one-third of their lifetimes asleep. Your immune system never sleeps, but shifts its activity when you sleep. It is known that asthma disease activity can be worse at night - the reasons for this are complex, and may involve changes in allergic responses. We found, in a preliminary study of both adults with and without asthma, that longer duration of nighttime sleep was associated with lower levels of exhaled nitric oxide, a biomarker which is elevated in exhaled breath of those with allergic asthma. This may carry over into the afternoon as well, but the sample size was too small to fully conclude that.
Author Interviews, Biomarkers, Breast Cancer, Genetic Research, Race/Ethnic Diversity, Wistar / 28.02.2017

MedicalResearch.com Interview with: [caption id="attachment_32490" align="alignleft" width="200"]Maureen E. Murphy, Ph.D. Professor and Program Leader, Molecular and Cellular Oncogenesis Program Associate Vice President for Faculty Affairs Associate Director for Education and Career Development The Wistar Institute Philadelphia, PA 19104 Dr. Murphy[/caption] Maureen E. Murphy, Ph.D. Professor and Program Leader, Molecular and Cellular Oncogenesis Program Associate Vice President for Faculty Affairs Associate Director for Education and Career Development The Wistar Institute Philadelphia, PA 19104 MedicalResearch.com: What is the background for this study? What are the main findings? Response: The Murphy group discovered a coding-region variant of the p53 tumor suppressor gene, called Pro47Ser, that exists in individuals of African descent. In previous studies this group reported that this amino acid change reduces the ability of p53 to function as a tumor suppressor. In this study, African American women from two different large cohorts were assessed for the incidence of the Pro47Ser variant in pre-menopausal breast cancer. A modest but statistically significant association was found between Pro47Ser and pre-menopausal breast cancer.
Author Interviews, Biomarkers, Genetic Research, PLoS, Prostate Cancer / 23.02.2017

MedicalResearch.com Interview with: G. Andrés Cisneros, Ph.D. Associate Professor Department of Chemistry Center for Advanced Scientific Computing and Modeling, University of North Texas MedicalResearch.com: What is the background for this study? What are the main findings? Response: The accurate maintenance of DNA is crucial, if DNA damage is not addressed it can lead to various diseases including cancer. Therefore, the question arises about what happens if enzymes in charge of DNA repair are themselves mutated. We previously developed a method to perform targeted searches for cancer-related SNPs on genes of interest called HyDn-SNP-S. This method was applied to find prostate-cancer SNPs on DNA dealkylases in the ALKB family of enzymes. Our results uncovered a particular mutation on ALKBH7, R191Q, that is significantly associated with prostate cancer. Subsequent computer simulations and experiments indicate that this cancer mutation results in a decreased ability of ALKBH7 to bind its co-factor, thus impeding its ability to perform its native function.
Author Interviews, Biomarkers, Pharmacology, Prostate Cancer / 19.02.2017

MedicalResearch.com Interview with: Teemu J Murtola, MD, PhD, adjunct professor University of Tampere, Faculty of Medicine and Life Sciences Tampere University Hospital, Department of Urology Tampere, Finland MedicalResearch.com: What is the background for this study? Response: A previous study called Prostate Cancer Prevention Trial (PCPT) showed that finasteride, which belongs to a drug group called 5alpha-reductase inhibitors lowers serum PSA and increases sensitivity of PSA to detect high-grade prostate cancer in men who had little or no symptoms of the lower urinary tract. We postulated that this effect would increase the accuracy and benefits of PSA-based prostate cancer screening. Finnish Randomized Study of Screening for Prostate Cancer was a large trial of over 80,000 men randomized either to be screened for prostate cancer with a PSA test at 4-year intervals or to be followed for prostate cancer incidence and mortality via national registries. Three consecutive screening rounds were commenced between 1996-2008. In the current study we compared the effects of PSA-based screening on prostate cancer risk and mortality separately among men who were using 5alpha-reductase inhibitors finasteride or dutasteride and among men who were not.
Author Interviews, Biomarkers, Genetic Research, Personalized Medicine, Prostate Cancer / 17.02.2017

MedicalResearch.com Interview with: [caption id="attachment_32155" align="alignleft" width="132"]Dr. John L. Gore, MD Associate Professor Adjunct Associate Professor-Surgery Department of Urology University of Washington Dr. John Gore[/caption] Dr. John L. Gore, MD Associate Professor Adjunct Associate Professor-Surgery Department of Urology University of Washington MedicalResearch.com: What is the background for this study? What are the main findings? Response: The rationale for our study derives from the uncertainty that both patients and clinicians confront when trying to make decisions about adjuvant therapy for prostate cancers found to have aggressive pathologic features at the time of radical prostatectomy. There is level 1 evidence in support of adjuvant radiation therapy in this setting, but several factors restrain providers from recommending adjuvant radiation. We found that interjecting a genomic test that predicts the risk of clinical metastases 5 years after surgery impacts the treatment recommended and helps men and clinicians feel more confident in the decision they are making or recommending.
Author Interviews, Biomarkers, Breast Cancer, Genetic Research / 17.02.2017

MedicalResearch.com Interview with: [caption id="attachment_32122" align="alignleft" width="114"]Carlos H. Barcenas M.D., M.Sc. Assistant Professor Department of Breast Medical Oncology MD Anderson Cancer Center Dr. Carlos Barcenas[/caption] Carlos H. Barcenas M.D., M.Sc. Assistant Professor Department of Breast Medical Oncology MD Anderson Cancer Center MedicalResearch.com: What is the background for this study? What are the main findings? Response: Over the last decade we have realized that we were over-treating many early stage breast cancer patients. In addition to the chemotherapy’s obvious side effects, there are also long term complications for breast cancer survivors. Since 2005, we are using a 21-gene-expression assay that predicts the risk of distant recurrence among early stage breast cancer patients. In 2015, initial results from the international clinical trial, TAILORx, found that women with hormone receptor positive, HER2 and lymph node negative early stage disease that had a low recurrence score (RS) of 0-10 from this assay could have chemotherapy omitted altogether. While these findings changed care for women with a low RS, questions remain regarding the management of women with an intermediate RS, defined by this trial as a RS of 11-25. For our retrospective, single-institution study we identified 1,424 stage I and II breast cancer patients with hormone receptor positive, HER2 and lymph node negative treated between 2005 and 2011 who underwent the 21-gene expression assay. The RS distribution was: 297 (21 percent) scored 0–10; 894 (63 percent) scored 11-25; and 233 (16 percent) scored >25. Of those groups, 1.7, 15 and 73.4 percent received chemotherapy, respectively. With a median follow up of 58 months, those with a RS of 11-25 had an invasive disease-free survival (IDFS) rate at five years of 92.6 percent, regardless if patients received chemotherapy or not. Among those patients who did not receive chemotherapy, the estimated rates of IDFS and overall survival was 93 percent and 98 percent, respectively, which was comparable to those who did receive chemotherapy.
Author Interviews, Biomarkers, Cancer Research / 15.02.2017

MedicalResearch.com Interview with: [caption id="attachment_32032" align="alignleft" width="142"]Edwin Posadas, MD, FACP, KM Director, Translational Oncology Program Medical Director, Urologic Oncology Program Samuel Oschin Comprehensive Cancer Institute Dr. Edwin Posadas[/caption] Edwin Posadas, MD, FACP, KM Director, Translational Oncology Program Medical Director, Urologic Oncology Program Samuel Oschin Comprehensive Cancer Institute Clinical Chief, Division of Hematology/Oncology Associate Professor, Department of Medicine Cedars-Sinai MedicalResearch.com: What is the background for this study? What are the main findings of your work so far? Response: The technology we are using is called a NanoVelcro assay. This is a nanotechnology that can be used to isolate rare cells and cell-like particles in the blood stream. We have focused the use of the NanoVelcro on isolating circulating tumor cells (or CTCs). This technology is about 10 times more sensitive than that currently used in clinics. More importantly, because of some modification in our approach, we can now not only capture CTCs, but also examine them under the microscope and even analyze them using advanced molecular techniques. In this way, we take a classic and modern approach to our work. We firmly believe that there is much to be learned by studying the shapes of these CTCs. We in the cancer field have long known that shape and cellular function are intimately related. In fact, a young pathologist in our group readily recognized that patients with the most aggressive cancers had CTCs with small nuclei, which we verified in a larger study. We are now exploring the importance of these shape variations in CTCs by coupling this classic microscopy-driven approach with RNA characterizations, giving us insight into the molecular nature of the CTC. My collaborator, UCLA Professor Hsian-Rong Tseng, PhD, is a brilliant engineer who has found ways of altering the system to allow us to capture and release live cells for analysis. By using this system, we believe that one day we may be able to avoid performing invasive tissue biopsies to study a cancer.
Author Interviews, Biomarkers, Heart Disease, JAMA / 12.02.2017

MedicalResearch.com Interview with: [caption id="attachment_31832" align="alignleft" width="169"]Frederick L. Ruberg, MD Director, Cardiovascular Medicine Fellowship Training Program Director, Pilot Grants Program, Boston University Clinical and Translational Science Institute Director, Advanced Cardiac Imaging Program Section of Cardiovascular Medicine, Department of Medicine Department of Radiology Boston Medical Center Dr. Frederick Ruberg[/caption] Frederick L. Ruberg, MD Director, Cardiovascular Medicine Fellowship Training Program Director, Pilot Grants Program, Boston University Clinical and Translational Science Institute Director, Advanced Cardiac Imaging Program Section of Cardiovascular Medicine Department of Medicine Department of Radiology Boston Medical Center  MedicalResearch.com: What is the background for this study? What are the main findings? Response: ATTR cardiac amyloidosis is an under-recognized cause of congestive heart failure in older adults that results from the deposition of misfolded TTR protein in the heart. One cause of ATTR cardiac amyloidosis is a genetic abnormality, inherited from an affected patient’s parent, that causes the protein TTR to misfold. The most common genetically inherited cause of ATTR amyloidosis in the US is called Val122Ile (V122I), named for the specific mutation in the TTR gene, that is seen in approximately 3.5% of US African Americans. ATTR cardiac amyloidosis was once an untreatable disease, but now new drugs are in different stages of clinical trial testing. Thus, recognition is important to get patients on the right treatments. One of the principal reasons why the disease is under-recognized is that doctors don’t have proven and available diagnostic tests that can be applied in the outpatient clinic. This study demonstrated that a new point-of-care diagnostic test, using measurement of a blood protein called retinol binding protein 4 (RBP4) and other standard of care test information, can accurately diagnose ATTR cardiac amyloidosis. We demonstrated the validity of this test in two separate cohorts of patients with proven ATTR cardiac amyloidosis due to the Val122Ile mutation and control patients with heart failure but without amyloidosis.
Author Interviews, Biomarkers, Endocrinology, NIH / 10.02.2017

MedicalResearch.com Interview with: Mihail Zilbermint, M.D. Endocrinologist, Office of the Scientific Director Mihail Zilbermint, M.D. Endocrinologist, Office of the Scientific Director Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health  MedicalResearch.com: What is the background for this study? Response: Diagnosing Cushing Syndrome is often difficult and challenging.  Diagnosing hypercortisolemia, could require the use of a combination of any of these tests: 24-hour free urine cortisol monitoring, an overnight dexamethasone suppression test, and measurement of late night salivary cortisol.  Cortisol levels may change daily, requiring that testing be repeated.  Undiagnosed and untreated Cushing Syndrome greatly increases morbidity and mortality risk. Cortisol levels can be detected in hair samples.  Much like hemoglobin A1C is a long-term indicator of blood glucose levels, efforts have been made to determine if hair cortisol could serve as a long-term measure of the body’s glucocorticoid levels.  We sought to compare the results of cortisol levels for Cushing Syndrome patients with data from data on cortisol in hair segments, to gain further information on the role of sampling hair cortisol as an initial or supportive method for diagnosing Cushing Syndrome.
Author Interviews, Biomarkers, Breast Cancer, Cancer Research / 14.01.2017

MedicalResearch.com Interview with: [caption id="attachment_31251" align="alignleft" width="150"]Ulrich Pfeffer, PhD Head of the Functional Genomics lab IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro Genova, Italy Dr. Ulrich Pfeffer[/caption] Ulrich Pfeffer, PhD Head of the Functional Genomics lab IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro Genova, Italy MedicalResearch.com: What is the background for this study? What are the main findings? Response: In recent years our knowledge on genetic variants that are associated with the risk to develop breast cancer has grown substantially. In addition to the two breast cancer genes, BRCA1 and BRCA2 we know approximately 100 other genes that are present in the population in two variants. In the presence of a single of these variants the breast cancer risk is slightly increased and several variants together determine a significant increase in risk. We also know that certain variants are associated with specific subtypes of breast cancer such as the estrogen receptor positive breast cancer. We show in our work for the first time that some of these variants are more frequent in breast cancers that carry a specific somatic, non-inherited, mutation. In particular, we show this for the most frequent somatic mutation in breast cancer, PIK3CA, a gene involved in the control of tumor metabolism and many other aspects, a fundamental gene. The knowledge of this association tells us a lot on cancer biology. But most important, it might help to design specific prevention strategies. Since when you carry a germline allele that is associated with a specific somatic mutation you know your risk of a specific molecular type of breast cancer and eventually you can do something specific to prevent it.
Author Interviews, Biomarkers, Cancer Research, ENT / 13.01.2017

MedicalResearch.com Interview with: [caption id="attachment_31235" align="alignleft" width="154"]Jacek Majewski PhD Associate Professor Department of Human Genetics McGill University and Genome Quebec Innovation Centre Montreal, Canada Dr. Jacek Majewski[/caption] Jacek Majewski PhD Associate Professor Department of Human Genetics McGill University and Genome Quebec Innovation Centre Montreal, Canada  MedicalResearch.com: What is the background for this study? Response: Our lab, in collaboration with Dr. Nada Jabado, has been investigating the molecular genetics of pediatric glioblastoma – a deadly brain cancer. Several years ago, in the majority of our patients’ tumors we discovered mutations in genes that encode histone proteins. Those mutations disrupt the epigenome - that is the way the DNA is modified, silenced, or activated in the cancer cells. It appears that epigenome-modifying mutations are particularly important in pediatric cancers, and our hypothesis is that they act by diverting the normal developmental pathways into unrestrained proliferation. Many other studies have highlighted the significance of epigenome disruption in a number of cancers.
Author Interviews, Biomarkers, JAMA, Prostate Cancer, Radiation Therapy / 13.01.2017

MedicalResearch.com Interview with: Trevor Royce MD MS Resident, Harvard Radiation Oncology Program MedicalResearch.com: What is the background for this study? What are the main findings? Response: Clinical trials in early prostate cancer take more than a decade to report on. Multiple early reporting endpoints have been proposed, but which one is best, remains unknown, until now. Of all the possible early endpoints examined, to date, how low a PSA blood test falls to, after treatment with radiation and hormonal therapy, appears to be the best, specifically, if the PSA doesn’t get below half a point, that patient is very likely to die of prostate cancer if given standard treatment for recurrence. Those men deserve prompt enrollment on clinical trials in order to properly save their life.
Author Interviews, Biomarkers, Critical Care - Intensive Care - ICUs, Infections, JAMA, Pediatrics / 11.01.2017

MedicalResearch.com Interview with: [caption id="attachment_31122" align="alignleft" width="140"]Halden F. Scott MD, Assistant Professor Departments of Pediatrics and Emergency Medicine University of Colorado School of Medicine Dr. Halden F. Scott[/caption] Halden F. Scott MD, Assistant Professor Departments of Pediatrics and Emergency Medicine University of Colorado School of Medicine MedicalResearch.com: What is the background for this study? Response: Sepsis, a dysregulated immune response to infection, is a leading cause of death for children. Survival depends on rapid diagnosis and timely delivery of life-saving resuscitative care, including fluids and antibiotics. However, it can be challenging to make an early diagnosis of sepsis in children. Millions of children present for emergency care of infection and fever every year, most of whom will not develop sepsis. Tools that assist providers in distinguishing the sickest children with infection at an early stage could enable the early delivery of life-saving treatments. Lactate is a clinically-available laboratory test that has played a critical role in improving the diagnosis and treatment of sepsis in adults. Sepsis may cause lactate levels to rise in the blood during sepsis, through reduced delivery of oxygen to the tissues, as well as through changes in how energy is produced and in how lactate is cleared by the kidney and liver. Data about lactate in pediatric sepsis, particularly early levels and whether it is associated with mortality, have been limited.
Aging, Author Interviews, Biomarkers / 09.01.2017

MedicalResearch.com Interview with: [caption id="attachment_31077" align="alignleft" width="120"]Paola Sebastiani PhD Department of Biostatistics Boston University School of Public Health Boston, MA 02118 Dr. Paola Sebastiani[/caption] Paola Sebastiani PhD Department of Biostatistics Boston University School of Public Health Boston, MA 02118 MedicalResearch.com: What is the background for this study? What are the main findings? Response: Human life expectancy has increased steadily in the last century and has led to a growth of the elderly population and a need for prevention strategies and interventions that promote healthy aging. A challenge in assessing the effect of such interventions is ‘what to measure’ because people can age very differently from one another. Our study used 19 blood biomarkers that include for example cholesterol level and hemoglobin A1C to discover 26 biological signatures of aging in approximately 4,700 participants of the Long Life Family Study. These signatures are essentially patterns of values of the 19 biomarkers and we showed that one of these signatures is associated with better physical and cognitive functions, and reduced risk for disease and mortality compared to the most common signature in the study. Additional signatures predict varying risk for diabetes, cardiovascular and other aging-related diseases. We replicated these results in an independent data set. The associations of these biomarker signatures with physical and cognitive functions, and risk for morbidity and mortality support the conclusion that they capture different form of biological aging.
Author Interviews, Biomarkers, JAMA, Multiple Sclerosis / 07.01.2017

MedicalResearch.com Interview with: [caption id="attachment_31038" align="alignleft" width="200"]Prof Rogier Q Hintzen Neurologist/immunologist Head MS Centre ErasMS Dept of Neurology Erasmus MC, PB 2040 Rotterdam Prof Rogier Q Hintzen[/caption] Prof Rogier Q Hintzen Neurologist/immunologist Head MS Centre ErasMS Dept of Neurology Erasmus MC, Rotterdam MedicalResearch.com: What is the background for this study? What are the main findings? Response: Years ago, we identified soluble (s) CD27 as a biomarker for T cell activation in body fluids, as part of my PhD study. (J Immunol. 1991 Jul 1;147(1):29-35.) As we presume the neuropathology seen in MS is guided by T cells we were interested to be able to quantify the activity of such cells in a given patient. Cerebrospinal fluid (CSF) is as close as we can get to the site of the disease process in MS, therefore we focus on biomarkers in this compartment. We found clearly elevated levels of sCD27 in CSF of Multiple Sclerosis patients versus non-inflammatory controls. In this study we investigated whether at the moment of first attack of suspected Multiple Sclerosis, quantification of CSF sCD27 can predict further progression in to a diagnosis of MS and whether sCD27 levels are correlated with later attack frequency. Indeed, we found that high sCD27 measured at this early stage predicts a more rapid diagnosis of Multiple Sclerosis and a more aggressive disease course.
Author Interviews, Biomarkers, Heart Disease, JACC / 04.01.2017

MedicalResearch.com Interview with: [caption id="attachment_30915" align="alignleft" width="188"]Prof. Michele Emdin, MD, PhD, FESC Associate Professor of Cardiovascular Medicine Institute of Life Sciences Scuola Superiore Sant'Anna - Sant'Anna School of Advanced Studies Director, Cardiology & Cardiovascular Medicine Division Fondazione Toscana Gabriele Monasterio per la Ricerca Medica e di Sanità Pubblica Prof. Michele Emdin[/caption] Prof. Michele Emdin, MD, PhD, FESC Associate Professor of Cardiovascular Medicine Director, Cardiology & Cardiovascular Medicine Division Fondazione Toscana Gabriele Monasterio per la Ricerca Medica e di Sanità Pubblica CNR-Regione Toscana with the collaboration of Dr. Alberto Aimo, MD Institute of Life Sciences Scuola Superiore Sant'Anna - Sant'Anna School of Advanced Studies Pisa, Italy MedicalResearch.com: What is the background for these meta-analyses? Response: Soluble suppression of tumorigenicity 2 (sST2) is a novel and promising biomarker of heart failure (HF). It has been extensively studied in both stable chronic (CHF) and acute HF (AHF), demonstrating substantial potential as a predictor of prognosis in both settings (Dieplinger et al., 2015). An International Consensus Panel (Januzzi et al., 2015) and latest American College of Cardiology Foundation/American Heart Association (ACCF/AHA) guidelines (Yancy et al., 2013) support the use of sST2 assay for risk stratification in both CHF and AHF patients. By contrast, European Society of Cardiology guidelines do not provide specific recommendations on sST2 (Ponikowski et al., 2016). Because of ambiguity due to discordant conclusions and to the absence of a thorough revision of the literature and of rigorous meta-analyses of published studies up-to-date, we felt it worthwhile to carefully examine and meta-analyze evidence supporting measurement of sST2, in order to assess the prognostic role of this biomarker in CHF and AHF. Most of the groups originally publishing on the topic all over the world and representing the Gotha of clinical research on cardiovascular biomarker, accepted to directly contribute allowing the main Authors to achieve novel information by a guided statistical reappraisal, The final results furnish clinically significant support to the use of sST2 as a risk stratification tool either in the acute or in the chronic heart failure setting.
Author Interviews, Biomarkers, Cancer Research, JAMA / 29.12.2016

MedicalResearch.com Interview with [caption id="attachment_30854" align="alignleft" width="160"]David A Mankoff, MD, PhD Dr. David Mankoff[/caption] David A Mankoff, MD, PhD Gerd Muehllehner Professor of Radiology Attending Physician University of Pennsylvania Health System PET Center Director Vice-Chair of Research, Department of Radiology University of Pennsylvania MedicalResearch.com: What is the background for this study? What are the main findings? Response: This review was designed to describe the current status of molecular imaging, especially positron emission tomography (PET) as a clinical tool for helping to direct precision oncology. We found that while there had been a number of promising methods tested in small, single research studies, the number of new molecular imaging tests translated to the clinic was small. In addition, the application of molecular methods as tools for therapeutic decision making (versus use for disease detections and staging) was even smaller. We noted that some recently published studies, including a few large multi-center trials, indicated the considerable potential of new molecular imaging tests to identify therapeutic targets for cancer treatment, to evaluate early response to targeted cancer therapy, and to predict downstream outcomes such as progression free survival. We made some observations and recommendations in the review for directing these potentially powerful imaging tools towards use as biomarkers for precision oncology.
AACR, Author Interviews, Biomarkers, Breast Cancer, Chemotherapy / 26.12.2016

MedicalResearch.com Interview with: Helena Jernström, PhD Associate Professor in Experimental Oncology Study Coordinator for Graduate studies Division of Oncology and Pathology Coordinator of the programmes in statistics and epidemiology for doctoral students at the Medical Faculty, Lund University Division of Oncology and Pathology, Department of Clinical Sciences, Lund Lund University Cancer Center/Kamprad Lund, Sweden MedicalResearch.com: What is the background for this study? Response: There is a need for better predictive markers to guide selection of therapy in breast cancer patients. Estrogen receptor beta (ER-beta) may confer prognostic information beyond what is currently obtained by the established clinical markers, including ER-alpha, which is routinely evaluated.
Author Interviews, Biomarkers, Multiple Sclerosis / 19.12.2016

MedicalResearch.com Interview with: [caption id="attachment_30641" align="alignleft" width="200"]Charles Bangham PhD ScD Division of Infectious Diseases, Department of Medicine Imperial College London London, UK Dr. Charles Bangham[/caption] Charles Bangham PhD ScD Division of Infectious Diseases, Department of Medicine Imperial College London London, UK MedicalResearch.com: What is the background for this study? Response: Multiple sclerosis (MS) is a neurological disease of the brain and spinal cord, often beginning in the 20s and 30s which can cause both attacks (relapses) and disability over time. Most people with the condition have intermittent episodes of illness at first, but about two-thirds go on to develop a progressive form, known as secondary progressive MS. In this form, there is a gradual loss of nerve cells in the brain, resulting in shrinkage of the brain and progressive disability. Neither the initiating cause of  Multiple sclerosis nor the reasons for this brain shrinkage are known, and existing treatments for the early phase of the condition are unsatisfactory.
Author Interviews, Biomarkers, Infections, JAMA, Neurological Disorders / 12.12.2016

MedicalResearch.com Interview with: Zanusso Gianluigi M.D.Ph.D. Department of Neurosciences, Biomedicine and Movement Sciences University of Verona Verona, Italy MedicalResearch.com: What is the background for this study? What are the main findings? Response: To determine RT-QuIC assay sensitivity and specificity in cerebrospinal fluid and olfactory mucosa in a large group of patients with a clinical diagnosis of probable, possible or suspect Creutzfeldt–Jakob disease (CJD) and controls. In these patients, RT-QuIC testing of CSF and olfactory mucosa provided a specificity and sensitivity of 100%. A softer swab for olfactory mucosa sampling provided the same sensitivity as using a brush .
Author Interviews, Biomarkers, Pediatrics, Pulmonary Disease / 02.12.2016

MedicalResearch.com Interview with: [caption id="attachment_30177" align="alignleft" width="164"]Prof. Henrik Verder Department of Pediatrics Holbaek University Hospital Denmark Prof. Henrik Verder[/caption] Prof. Henrik Verder Department of Pediatrics Holbaek University Hospital Denmark MedicalResearch.com: What is the background for this study? What are the main findings? Response: Respiratory Distress Syndrome (RDS) is a major cause of mortality and morbidity in premature infants. It can be effectively treated with surfactant, a therapy which reduces the effort needed to expand the lungs during inspiration and allow gas exchange to take place. Early surfactant treatment can help prevent the onset and impact of RDS, however, prophylactic treatment has been shown to be harmful and only necessary in half of all pre-term infants. This study provided data validating the efficacy of a lung maturity test (LMT) in identifying infants at risk of respiratory distress syndrome (RDS) who could benefit from early surfactant treatment.
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