Author Interviews, Cancer Research, Gender Differences, Genetic Research / 21.01.2020

MedicalResearch.com Interview with: Alejandro Cáceres PhD Juan R. González, PhD Barcelona Institute for Global Health (ISGlobal) Barcelona, Spain. MedicalResearch.com: What is the background for this study? What are the main findings? Response: Men have more risk and worse prognosis to cancer than women. There are many environmental factors but also biological differences. We find that the loss of function of six genes (DDX3Y, EIF1AY, KDM5D, RPS4Y1, UTY and ZFY) in chromosome Y is one of the biological factors for the differences between sexes in relation to cancer risk and prognosis.  (more…)
Author Interviews, Education, Genetic Research, PNAS / 20.01.2020

MedicalResearch.com Interview with: Per Engzell PhD Postdoctoral Prize Research Fellow Nuffield College, University of Oxford
Felix C. Tropf, PhD Assistant Professor in Social Science Genetics, CREST-ENSAE, Paris
MedicalResearch.com: What is the background for this study? Response: We know that parents and offspring often resemble each other in their socio-economic outcomes: higher-educated parents tend to have children who reach a similar level of education while children of disadvantaged families struggle in school. To the extent that this compromises equality of opportunity – that is, some children end up better educated only because of their social background – social policies aim to compensate for it and promote social mobility. At the same time, not all similarity between parents and offspring can be seen as equally troubling. A society that blocked entry to university for any child born to academics would achieve high mobility, but few of us would see it as a model of equal opportunity. So some channels of transmission then, it seems, are more fair than others. Although we may disagree where to draw the line, things like parents’ ability to pay for good neighborhoods, schools, or access to college appear clearly more troubling than the inheritance of traits that make for educational success. In this study, we ask whether societies that have achieved a high degree of intergenerational mobility have done so by limiting the reach of "nature" (inherited traits), "nurture" (other family advantages), or both. We do so by combining the rich literatures of social mobility research and behavior genetics, comparing variation across several cohorts of men and women in 10 countries.  (more…)
Author Interviews, Cognitive Issues, Genetic Research / 15.01.2020

MedicalResearch.com Interview with: Haining Zhu, PhD Department of Molecular and Cellular Biochemistry University of Kentucky, Lexington, Kentucky MedicalResearch.com: What is the background for this study? Response: Frontotemporal dementia is the most common type of early onset dementia impacting people between ages 40 and 65. It affects the frontal and temporal lobes of the brain, which leads to behavior and personality changes, difficulty speaking and writing, and eventual memory deterioration. A subgroup of patients with frontotemporal dementia have a specific genetic mutation that prevents brain cells from making a protein called progranulin. Although progranulin is not well understood, its absence is linked to the disease. (more…)
Author Interviews, Genetic Research, Heart Disease, JAMA, Weight Research / 08.01.2020

MedicalResearch.com Interview with: Ravi V. Shah, MD Cardiology Division, Department of Medicine Massachusetts General Hospital Boston, MA Venkatesh L. Murthy MD, PhD Division of Cardiovascular Medicine Department of Medicine and Frankel Cardiovascular Center University of Michigan Ann Arbor, MI MedicalResearch.com: What is the background for this study? Response: We were interested in evaluating how added information like fitness assessed on a treadmill exercise test, physical activity questionnaires and genetic risk scores could inform patients and doctors’ understanding of how an individuals BMI might change over time. We used one of the latest and broadest polygenic risk scores. We investigated the CARDIA cohort, a study sponsored by the National Heart, Lung, and Blood Institute, who were young adults aged 18 to 30 and have been followed serially for 25 years. (more…)
Author Interviews, Cancer Research, Genetic Research / 18.12.2019

MedicalResearch.com Interview with: Dr. Aaron Elliott, PhD CEO Ambry Genetics Dr. Elliott discusses The New York State Clinical Laboratory Evaluation Program (CLEP) approval of +RNAinsight™, a new genetic test for hereditary cancer risk.  MedicalResearch.com: What is the background for this announcement? What types of cancers can be genetically tested for predisposition? To whom should the testing be offered?  Response: The New York State Clinical Laboratory Evaluation Program (CLEP) has approved +RNAinsight™, which enables clinicians – for the first time ever – to conduct both DNA and RNA genetic testing at the same time. This is the first genetic testing advancement in over a decade to significantly increase the diagnostic yield (meaning the number of patients identified with a specific hereditary risk for cancer) in genes like BRCA1 and BRCA2. With +RNAinsight, Ambry is the first and only lab to offer this paired RNA and DNA genetic testing. Genetics may contribute to individuals’ risk of developing a number of cancers, including breast, ovarian, prostate, colorectal, and others. Approximately five to 10 percent of cancer cases are hereditary, according to the National Cancer Institute. The National Society of Genetic Counselors (NSGC) guidelines indicate who should receive genetic testing to learn whether they have increased risks to develop hereditary cancer. For example, someone with close family members who developed cancer at young ages may be a good candidate. (more…)
Author Interviews, Breast Cancer, Genetic Research / 15.12.2019

MedicalResearch.com Interview with: Dr. Julia Blanter, MD MS Icahn School of Medicine at Mount Sinai First author of the study MedicalResearch.com: What is the background for this study? Response: The Oncotype DX Breast Cancer Assay was developed to genetically profile patients with early stage, hormone positive breast cancer and predict their 10-year risk of distant recurrence. A high-risk recurrence score is associated with a benefit from adjuvant chemotherapy whereas a low risk recurrence score is associated with little to no benefit. BRCA mutated tumors have been associated with higher risk recurrence scores as compared to BRCA negative breast cancer patients. However, there have been minimal studies relating discordance to BRCA mutations. Discordance refers to a poorly differentiated or high-grade tumor with a low risk recurrence score. Prior studies demonstrated 7-19% discordance, or difference between recurrence score and tumor grade in breast cancer patients regardless of BRCA mutation status. It has been concluded that patients who exhibit discordance may benefit from additional therapy in conjunction with endocrine therapy. (more…)
Author Interviews, Autism, Genetic Research, Nature, Pediatrics / 10.12.2019

MedicalResearch.com Interview with: Dr. Stephen Scherer, PhD, FRSC Senior Scientist, Genetics & Genome Biology Director, The Centre for Applied Genomics SickKids Hospital Toronto MedicalResearch.com: What is the background for this study? Response: One of the most common questions we get from parents with a child with autism is, "what is the likelihood of having a second or third child with autism, and what is the chance others in our family will have kids with autism?". To help provide answers to these questions, we started the infant (or baby) siblings study ten years ago. Families having an older sibling with a diagnosis of autism were invited to enroll their next born for assessment and following to see if they also developed autism, and what the likelihood of that happening was. Biological samples like blood, and DNA from blood, were also collected and tested.  (more…)
Author Interviews, Cancer Research, Genetic Research, Pharmaceutical Companies / 26.11.2019

MedicalResearch.com Interview with: Ambry GeneticsRachid Karam, MD PhD Director, Ambry Translational Genomics Lab Ambry Genetics MedicalResearch.com: What is the background for this study? Response: Standard DNA testing for hereditary cancer risk excludes large portions of DNA, thereby missing some mutations. In addition, DNA testing can produce inconclusive results and fail to determine that an error in our DNA increases cancer risk. These limitations impact patients and their families because doctors may not have the information needed to recommend appropriate preventive, early detection, or therapeutic steps. Additionally, relatives may not be referred for genetic testing and obtain the care they would otherwise have gotten if they had learned they had mutations. The study looked at how the addition of RNA genetic testing to standard DNA testing for hereditary cancer risk was able to increase diagnostic yield. The study looked at the first 2,500 patients that received Ambry Genetics +RNAinsight™, paired RNA and DNA genetic testing for hereditary cancer risk. The data from this study showed that the addition of RNA genetic testing to DNA testing (1) identified new mutations that would have been missed with DNA testing alone, and (2) clarified inconclusive results as disease-causing. (more…)
Author Interviews, Genetic Research, Kidney Disease, Mineral Metabolism, Pediatrics / 10.11.2019

MedicalResearch.com Interview with: Tracy McGregor, MD MSCI Alnylam Pharmaceuticals Cambridge, Massachusetts  MedicalResearch.com: What is the background for this study?
  • Lumasiran is an investigational RNA interference (RNAi) therapeutic in development for the treatment of primary hyperoxaluria type 1 (PH1). PH1 is a rare life-threatening disease in which a enzymatic deficiency in the liver results in pathologic overproduction of oxalate, often leading to recurrent kidney stones and a progressive decline in kidney function, which typically culminates in end-stage renal disease (ESRD).Patients with ESRD are at a risk of systemic oxalosis, with oxalate depositing throughout the body, including the eyes, skin, bones, and the heart. Complications associated with ESRD and/or systemic oxalosis can be fatal. For patients with ESRD treatment options are limited and include intensive dialysis as a bridge to a dual liver/kidney transplant, highlighting the unmet need for new treatment options. 
(more…)
Author Interviews, Genetic Research, JAMA, Ophthalmology / 02.11.2019

MedicalResearch.com Interview with: Professor Jeremy A. Guggenheim School of Optometry & Vision Sciences Cardiff University, UKProfessor Jeremy A. Guggenheim School of Optometry & Vision Sciences Cardiff University, UK MedicalResearch.com: What is the background for this study? Response: Near-sightedness (myopia) usually develops during childhood and necessitates the use of glasses or contact lenses to correct blurry distance vision. It is also a risk factor for sight-threatening disorders such as glaucoma, retinal detachment and macular degeneration. Promising treatments designed to slow the progression of myopia are becoming available. Building on previous research suggesting that some individuals are genetically predisposed to near-sightedness, we investigated whether a genetic test could identify children at risk of developing myopia.  (more…)
Author Interviews, Cancer Research, Genetic Research, Pharmaceutical Companies / 23.10.2019

MedicalResearch.com Interview with: Ambry GeneticsRachid Karam, MD, PhD Ambry Genetics Aliso Viejo, California MedicalResearch.com: What is the background for this study? Response: DNA genetic testing is a powerful tool used to tailor medical care based on an individual’s cancer risk. However, even medical grade DNA genetic testing can produce inconclusive results, finding a change in our DNA to be a variant of unknown significance (a VUS) and failing to determine whether it increases cancer risk. When this happens, healthcare providers might not have the information needed to recommend appropriate preventive and early detection steps, or certain cancer treatments, and relatives may not be referred for genetic testing for their own care. In this study, investigators from Ambry, Dana-Farber Cancer Institute, Cedars-Sinai Medical Center, Rutgers Cancer Institute, and University of Kansas Cancer Center demonstrated that performing both DNA and RNA genetic testing reduces inconclusive results enabling clinicians to offer cancer screening and treatment resources to the right patients. (more…)
Author Interviews, Genetic Research, Pediatrics / 14.10.2019

MedicalResearch.com Interview with: Dr Nicole Van Bergen B Sc (Hon), PhD Senior Research Officer, Neurodevelopmental Genomics, Murdoch Children's Research Institute Honorary Fellow, Department of Paediatrics, The University of Melbourne Murdoch Children's Research Institute The Royal Children's Hospital Parkville, Victoria Australia  MedicalResearch.com: What is the background for this study? What are the main findings? Response: We are in an era when the price tag of genetic testing by next generation sequencing is becoming a cost-effective and rapid tool for medical diagnosis. The benefit to patients is often a more accurate and early diagnosis. Because we can do genetic analysis on blood or saliva, we don’t need to use more traditional invasive investigations such as biopsies, brain scans or other extensive imaging. We are reaching an unprecedented rate of discovery of new genes for rare disorders which will help solve the mystery for many previously undiagnosed conditions. An incredibly talented international team of researchers, led by the Murdoch Children’s Research Institute (MCRI) identified the underlying cause of a rare brain disorder in children. Together they identified that pathogenic mutations in a gene called NAXD cause severe neurological damage in children after an episode of mild fever or illness. Only six cases have been recorded worldwide and all the children died soon after suffering either a fever or illness. The research paper, ‘NAD(P)HX Dehydratase (NAXD) Deficiency: A Novel Neurodegenerative Disorder Exacerbated By Febrile Illnesses’ is published in the latest edition of the journal, Brain. MCRI lead laboratory researcher Nicole Van Bergen, said the research provides an excellent example of how new genetic testing technologies can be applied to solve the mystery of previously undiagnosed conditions. “By coupling the genetic testing information with sophisticated functional genomic approaches in the laboratory, we were able to pinpoint the exact cause of this disorder,”Dr Van Bergan said. “We used skin cells from patients, as well as other laboratory tools, to work out the gene that caused the children’s early death. (more…)
Author Interviews, Circadian Rhythm, Gastrointestinal Disease, Genetic Research, Weight Research / 13.10.2019

MedicalResearch.com Interview with: Marco Colonna, MD Robert Rock Belliveau MD Professor Pathology & Immunology Washington University School of Medicine Qianli Wang MD-PhD Student MSTP student Washington University School of Medicine MedicalResearch.com: What is the background for this study? Response: Many aspects of the mammalian digestive system including gut motility, nutrient absorption, and microbiota follow a daily rhythm. This circadian rhythm is generated by the cyclic expressions of molecular clock genes thought to be present in most cells. Group 3 innate lymphoid cells (ILC3) are lymphocytes residing in the intestinal mucosa that respond rapidly to activation in both homeostatic and inflammatory settings. Namely, ILC3s help maintain the mucosal barrier, regulate epithelial lipid transport, and protect against bacterial enteric infections. As tissue resident cells within the highly dynamic and rhythmic environment of the intestine, it may be advantageous for ILC3s to also be synchronized with the circadian rhythm.  (more…)
Author Interviews, Cancer Research, Genetic Research / 04.10.2019

MedicalResearch.com Interview with: Dr Ranjit Manchanda MD, MRCOG, PhD Professor & Consultant Gynaecological Oncologist NHS Innovation Accelerator (NIA) Fellow Integrated Academic Training Programme Director London Specialty School of Obstetrics & Gynaecology, Health Education England Cancer Research UK, Barts Centre | Queen Mary University of London Department of Gynaecological Oncology | Barts Health NHS Trust, Royal London Hospital London  MedicalResearch.com: What is the background for this study? Response: Current national and international guidelines recommend genetic-testing (for BRCA genes) in women with breast cancer (BC) who fulfil recognised/established clinical criteria which are based on a history of cancer in the patient and family. However 50% of BRCA carriers do not fulfil these criteria. Thus the current  family-history or clinical-criteria based approach misses half the people at risk. Additionally only 20%-30% of patients eligible tend to get referred for and access BRCA testing. Newer genes like PALB2 which cause breast cancer have been identified and can also be tested for. Knowing a patient’s mutation status (carrier identification) can have a number of benefits. After unilateral breast cancer, mutations carriers can choose contralateral prophylactic-mastectomy (CPM) or preventative mastectomy of the second breast to reduce their risk of developing contralateral breast cancer. Additionally they can opt for surgical prevention for ovarian-cancer (OC). Cancer affected carriers may become eligible for novel drugs (like poly-adenosine-diphosphate-ribose-polymerase (PARP) inhibitors) and other precision-medicine based novel drug therapies through clinical trials. A major advantage of genetic-testing is enabling testing relatives of breast cancer mutation carriers, to identify unaffected relatives carrying mutations who can benefit from early diagnosis and cancer prevention. Testing everyone instead of being restricted by family history will identify many more mutation carriers and their family members who can benefit from precision prevention. A large proportion of these cancers are preventable in known unaffected mutations carriers. (more…)
Antibiotic Resistance, Author Interviews, Cancer Research, Genetic Research, Journal Clinical Oncology, University Texas / 03.10.2019

MedicalResearch.com Interview with: Fangjian Guo, MD, PhD Department of Obstetrics and Gynecology Center for Interdisciplinary Research in Women’s Health University of Texas Medical Branch Galveston TX  MedicalResearch.com: What is the background for this study? What are the main findings?  Response: The identification of BRCA1/BRCA2 pathogenic variants in women susceptible to breast or ovarian cancer in the 1990s created an opportunity for targeted, individualized cancer prevention. BRCA testing in young women before cancer onset enables early detection of those with increased cancer risk and creates an opportunity to offer life-saving prophylactic procedures and medication. We used insurance claims data to assess the use of BRCA testing in unaffected young women <40 years of age between 2006 and 2017 and found that BRCA testing among cancer-free women under 40 has more than doubled in recent years. However, only about 25% of all BRCA testing done in 2017 was performed in unaffected young women under 40. (more…)
Author Interviews, ENT, Genetic Research, Pediatrics / 02.10.2019

MedicalResearch.com Interview with: Manvendra K Singh PhD Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School National Heart Research Institute, National Heart Center Singapore, Singapore MedicalResearch.com: What is the background for this study? What are the main findings?  Response: Craniofacial and cardiovascular abnormalities are the most common defects, contributing to more than one-third of the congenital diseases. Proper formation of these structures involves intricate processes such as proliferation, migration, and differentiation of neural crest cells (NCCs). Functional defects in NCCs result in craniofacial malformations, including cleft lip and/or cleft palate. Many transcription factors, chromatin remodelling factors, non-coding RNA and signalling molecules have been implicated in impaired neural crest development that result in cardio-craniofacial syndromes. However, the cell-autonomous role of splicing regulators in neural crest biology remains unclear and warrants further investigation. (more…)
Author Interviews, Genetic Research, JAMA, Mental Health Research / 30.09.2019

MedicalResearch.com Interview with: Dr Sophie Legge Research Associate MRC Centre for Neuropsychiatric Genetics and Genomics Division of Psychological Medicine and Clinical Neurosciences Cardiff University Cardiff MedicalResearch.com: What is the background for this study? Response: Psychotic experiences, such as hallucinations and delusions, are features of mental health disorders, such as schizophrenia and bipolar disorder, but they are also reported by approximately 5%-10% of the general population. Psychotic experiences are only considered to be symptoms of mental illness if there are other symptoms of that disorder. It is currently unclear what the genetic causes of psychotic experiences in the general population are, and whether these causes are related to the genetic causes of schizophrenia and other mental health disorders. Given that psychotic experiences are one of the key symptoms of schizophrenia, they may be more closely related than with other mental health conditions such as depression. (more…)
Aging, Author Interviews, Genetic Research / 28.09.2019

MedicalResearch.com Interview with: Lara Puhlmann, PhD student International Max Planck Research School NeuroCom Research Group Social Stress and Family Health MedicalResearch.com: What is the background for this study? Response: Studies are increasingly investigating ways to influence the length of telomeres (i.e., protective chromosomal caps), with the aim of improving a person’s health and aging trajectory. There is evidence that telomere length can change faster than previously thought, possibly taking just one to six months of mental or physical training to elongate. However, the broader biological implications of such short-term change in telomere length remain unclear.  (more…)
Author Interviews, Critical Care - Intensive Care - ICUs, Genetic Research, Infections, JAMA / 17.09.2019

MedicalResearch.com Interview with: QiPing Feng, PhD Division of Clinical Pharmacology Department of Medicine Vanderbilt University Medical Center Nashville, Tennessee MedicalResearch.com: What is the background for this study? Response: Sepsis is one of the leading causes of hospital mortality. Yet, there are no specific effective treatments for it. Recent information suggests that drugs that inhibit proprotein convertase subtilisin kexin type 9 (PCSK9) could have potential as a new treatment for sepsis. We used a genetic approach to test if variation in PCSK9 affected the risk of sepsis. In patients admitted to hospital with infection, neither variants in the PCSK9 gene nor predicted expression of PCSK9 were associated with risk of sepsis or poorer outcomes after sepsis.  (more…)
Author Interviews, Flu - Influenza, Genetic Research, PNAS / 10.09.2019

MedicalResearch.com Interview with: Jacob S. Yount, PhD Associate Professor Department of Microbial Infection and Immunity The Ohio State University, College of Medicine Co-Director, Viruses and Emerging Pathogens Program OSU Infectious Diseases Institute MedicalResearch.com: What is the background for this study? Response: Genetic defects in a human protein known as IFITM3 are linked to hospitalization and death upon influenza virus infections.  IFITM3 is an immune system protein that can inhibit virus entry into cells and it is produced as an early response to virus infections.  In order to better study the role of IFITM3 during infections, we engineered a mouse model that lacks this protein.   (more…)
Author Interviews, Genetic Research / 09.09.2019

MedicalResearch.com Interview with: Prof. Dominic Furniss, DM MA MBBCh FRCS Nuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Science University of Oxford MedicalResearch.com: What is the background for this study? Response: We knew that there was a genetic component to handedness. Twin studies estimated that around 25% of the variation in handedness seen in the human population is down to genetic factors. Genetic factors associated with left handedness had been shown in specific patient populations, but this study has found factors in the general population and correlated them with functional brain imaging to shed more light on this fascinating subject. We have used both genetic and imaging data from the UK Biobank study to discover genetic variants that are related to left handedness. We have correlated these variants with changes in brain imaging, in particular showing increased functional connectivity between the language processing areas of the brain in left handers. The genetic variants that are associated with left handedness are also near to genes involved in forming the internal skeleton of neurons, and important in brain development, suggesting that being left handed is in part caused by a difference in brain development. It is clear, however, that there are also many non-genetic influences on whether a person is left handed or not. In addition, we confirmed previous observations that being left handed is associated with other neurological problems, such as schizophrenia, and protective of others, such as Parkinson's disease, and showed that this is related to shared genetic factors, and likely reflects differences in brain development.  (more…)
Author Interviews, Breast Cancer, Cancer Research, Genetic Research, JAMA, Ovarian Cancer, USPSTF / 28.08.2019

MedicalResearch.com Interview with: Dr. Carol Mangione, M.D., M.S.P.H., F.A.C.P. Division Chief of General Internal Medicine and Health Services Research Professor of Medicine Barbara A. Levey, MD, and Gerald S. Levey, MD, endowed chair in Medicine David Geffen School of Medicine University of California, Los Angeles (UCLA) Professor of public health at the UCLA Fielding School of Public Health.  MedicalResearch.com: What is the background for this study? What are the main findings? Response: Every year, too many American women are faced with the challenge of dealing with a cancer diagnosis related to potentially harmful mutations of the BRCA1 and BRCA2 genes.  However, the Task Force found that there are several steps women can take to determine if they’re potentially at increased risk for BRCA gene mutations – and if genetic counseling and BRCA testing are needed. It is important to note that while some women can benefit from risk assessment, counseling, and testing, these services are not for everyone. (more…)
Alzheimer's - Dementia, Author Interviews, Genetic Research, Memory / 23.08.2019

MedicalResearch.com Interview with: Dr. Claude Alain PhD Senior Scientist Baycrest's Rotman Research Institute  MedicalResearch.com: What is the background for this study? Response: Adults carrying a gene associated with a higher risk of Alzheimer’s disease had a harder time accessing recently acquired knowledge, even though they didn’t show any symptoms of memory problems.  MedicalResearch.com: What are the main findings?  Response: Researchers found that older adults carrying a specific strain of the gene, apolipoprotein E4, otherwise known as APOE4, weren’t able to tap into information they had just learned to assist them on a listening test. These findings suggest greater difficulty for these individuals to access knowledge from their memory to guide their attention in ways that would have improved their performance. This work could lead to the development of new ways to detect individuals at risk. (more…)
Author Interviews, Breast Cancer, Brigham & Women's - Harvard, Genetic Research / 19.08.2019

MedicalResearch.com Interview with: Tengteng Wang, PhD, MSPH, MBBS Postdoctoral Research Fellow Department of Epidemiology Harvard T.H. Chan School of Public Health Channing Division of Network Medicine Brigham and Women's Hospital MedicalResearch.com: What is the background for this study? Response: Chronic inflammation is a key player in the development of multiple cancer types, including breast cancer. Aspirin is one of the major non-steroidal anti-inflammatory drugs (NSAIDs) which clearly has anti-inflammatory properties. Given this, substantial evidence from laboratory and population studies suggests that taking aspirin may reduce the risk of developing breast cancer. However, the association of aspirin use with death outcomes following breast cancer diagnosis remains inconclusive and inconsistent across studies. Therefore, we choose to focus on mortality outcomes in this paper and we hypothesized that the inconsistent results for aspirin in relation to mortality could be due to differences in the association by patients’ biological profiles, specifically DNA methylation profiles here.  (more…)
Author Interviews, Genetic Research, Heart Disease / 11.08.2019

MedicalResearch.com Interview with: Ambry GeneticsNancy Niguidula, MS, DPH Doctorate in Public Health in Toxicology Ambry Genetics   MedicalResearch.com: What is the background for this study? Response: The clinical presentations of many inherited cardiovascular conditions overlap; thus, genetic testing may clarify diagnoses, help with risk stratification, facilitate appropriate clinical management decisions, and aid in identifying asymptomatic, at-risk relatives. A large number of professional societies have developed practice guidelines and recommendations for genetic testing of cardiovascular diseases. These include international and collaborative expert panels that establish genetic screening and treatment recommendations by drawing on evidence-based medicine. To further strengthen the clinical utility of cardiovascular genetic testing, the American College of Medical Genetics and Genomics (ACMG) published a guideline for 59 genes with clinical actionability that should be reported if found on whole exome sequencing, even when unrelated to the testing indication. (more…)
Author Interviews, Cancer Research, Genetic Research / 08.08.2019

MedicalResearch.com Interview with: Upekha Liyanage MBBS |  PhD Student School of Medicine | University of Queensland Statistical Genetics Laboratory QIMR Berghofer Medical Research Institute MedicalResearch.com: What is the background for this study? What types of skin cancers are linked to these genes? Response: Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) collectively referred to as “keratinocyte cancers” are the commonest forms of cancers of the skin. Although these cancers are less aggressive than melanoma, due to their large numbers, they pose a significant burden to the healthcare expenditure. Also, these cancers are relatively understudied when compared with melanoma. Notably, BCC and SCC are not routinely reported in cancer registries. In Australia, Medicare data are used to estimate the incidence and costs associated with these cancers. Expenditure in Australia for the diagnosis, treatment and pathology, almost exceeds $700 million for both BCC and squamous cell carcinoma. In Unites States, the average annual cost for skin cancer including melanoma is approximately $8.1 billion. Previous research has led to identification of 29 BCC and 11 squamous cell carcinoma genetic risk variants and 7 of them overlap with both BCC and SCC risk. So, to strengthen the preventive efforts and to reveal new therapeutics, it is very timely and critical to explore more on the genetic susceptibility of these deadly cancers. We analysed ~48,000 cancer cases with ~630,000 skin cancer free controls from European ancestry population in Australia, UK and USA.  (more…)
Alzheimer's - Dementia, Author Interviews, Genetic Research / 31.07.2019

MedicalResearch.com Interview with: Dr. Amy Dunn, PhD Kaczorowski lab The Jackson Laboratory  MedicalResearch.com: What is the background for this study? What are the main findings? Response: Environmental factors, such as a poor diet, are known risk factors for Alzheimer’s disease. But the mechanisms are complex, and it is not known how such environmental perturbations interact with individual genetic variation to confer disease risk. Previous studies have not adequately addressed how the combination of genetic variant and environmental factors combine to alter cognitive response to a poor diet. To investigate gene-by-environment interactions, we fed either a normal diet or a high-fat diet to a genetically diverse Alzheimer’s disease mouse model population starting at six months of age and monitored metabolic and cognitive function. We observed accelerated working memory decline in the mice on the high-fat diet after eight weeks, with substantial gene-by diet effects on both cognitive and metabolic traits. Metabolic dysfunction was more closely related to cognitive function in mice carrying Alzheimer’s mutations than in those without. Interestingly, the high-fat diet affected metabolic function differently in female versus male mice.  (more…)
Author Interviews, Genetic Research, Heart Disease, Imperial College, JAMA / 12.07.2019

MedicalResearch.com Interview with: Ben Cordon, PhD NIHR Post-doctoral Academic Clinical Fellow Specialist Registrar training in cardiology  James S. Ware, PhD, MRCP  Reader in Genomic Medicine Group head within the Cardiovascular Genetics & Genomics Unit Imperial College London     MedicalResearch.com: What is the background for this study?   Response: Non-ischaemic dilated cardiomyopathy is a common cause of heart failure and carries the risk of life-threatening ventricular arrhythmia. An implantable cardioverter defibrillator (ICD) can be life-saving in this condition. However, the decision to implant an ICD is not one that can be taken lightly - ICD insertion carries its own risks, such as infection or inappropriate shocks, and our ability to predict who will benefit from a device is currently far from perfect. Genetic sequencing is affordable and widely available and for DCM, like many diseases, it is hoped that genetic stratification may one day help deliver personalised management. In DCM, variants in the Lamin A/C gene for example are known to cause a phenotype with early and severe arrhythmias and, as a result, international guidelines advocate a lower threshold for ICD insertion in these patients. However, Lamin A/C is an infrequent cause of DCM. The commonest known genetic cause of DCM are protein-truncating variants in the gene encoding Titin (TTNtv), accounting for ~15% of DCM cases. We wanted to know if this group had a higher risk of arrhythmia than the general DCM population. Earlier work from our group on this topic found that patients with TTNtv-associated DCM were more likely to have a clinical history of arrhythmia (composite of atrial and ventricular arrhythmia, including NSVT), at the time of their initial DCM diagnosis. But it was unclear if this was driven by ventricular arrhythmia, atrial arrhythmia, or both or if it would translate into a long-term risk of potentially dangerous ventricular arrhythmia of the sort for which an ICD can be life-saving. In another study we analysed a larger cohort of ambulant DCM patients but did not find an increased risk of ventricular arrhythmia – but this was a relatively low-risk group, with comparatively mild symptoms (NHYA I/II heart failure) and moderately impaired LV function. As a result, the overall arrhythmic event rate was low, meaning that the power to detect differences between the TTNtv and non-TTNtv groups was reduced. (more…)
Author Interviews, Cost of Health Care, Genetic Research, Personalized Medicine / 02.07.2019

Dr. Winegarden
Dr. Winegarden

MedicalResearch.com Interview with:

Wayne Winegarden, Ph.D.
Director, Center for Medical Economics and Innovation
Pacific Research Institute

MedicalResearch.com:  What is the background for this poll? Would you tell us a little about the Center for Medical Economics and Innovation? 

Response: Recent press reports have focused on how extensive innovative gene therapies can be.  PRI was interested in learning where Americans stand on these cures of the future, and commission a new national opinion survey to find out.

The Center for Medical Economics and Innovation is a new center launched by PRI this spring to research and advance policies showing how a thriving biomedical and pharmaceutical sector benefits both patients and economic growth. Medical innovation is an important driver of economic growth, responsible for over $1.3 trillion in economic activity each year. As the Milken Institute has found, every job in the biomedical sphere supports another 3.3 jobs elsewhere in the economy.

Among the activities of the Center – which can be accessed at www.medecon.org – are providing free-market analysis to evaluate current policy proposals, producing easy-to-understand data and analysis on current trends in medical science, breaking down complex issues like pharmaceutical and biomedical pricing structures, and demonstrating the benefits that market-based reforms can offer patients and the U.S. health care system.  (more…)