Author Interviews, Dental Research, Genetic Research / 28.04.2019

MedicalResearch.com Interview with: 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. (more…)
Author Interviews, Genetic Research, Heart Disease, JAMA, Lipids / 25.04.2019

MedicalResearch.com Interview with: Florian Kronenberg, MD Division of Genetic Epidemiology Department of Medical Genetics, Molecular and Clinical Pharmacology Medical University of Innsbruck, Innsbruck, Austria MedicalResearch.com: What is the background for this study? Response: Lp(a) is one of the most prevalent lipoprotein risk factors for cardiovascular disease. Roughly 20% of the general Caucasian population have concentrations above 50 mg/dL and the 10% with the highest concentrations have a 2 to 3-fold increased risk for myocardial infarction. There is strong evidence from genetic studies that high Lp(a) concentrations are causally related to cardiovascular outcomes. Until recently there was no drug available which lowers Lp(a) without any effects on other lipoproteins. This has recently changed by the development of drugs that block the production of Lp(a) in an impressive way. These drugs have to be studied in randomized controlled trials whether they not only lower Lp(a) concentrations but also cardiovascular outcomes. For the planning of such studies it is crucial to estimate the amount of Lp(a) lowering required to show a clinical benefit. (more…)
Author Interviews, Cancer Research, Colon Cancer, Genetic Research, Surgical Research / 22.04.2019

MedicalResearch.com Interview with: Valentine N. Nfonsam, MD, MS, FACS Associate Professor of Surgery Program Director, General Surgery Residency Colon and Rectal Surgery Division of Surgical Oncology University of Arizona, Tucson  MedicalResearch.com: What is the background for this study? What are the main findings? Response: The overall incidence of colon cancer in the United states has gone down in the last few decades. However, there has been a significant increase in the incidence of sporadic colon cancer is young patients (<50 years old). The etiology of this phenomenon is likely multi-factorial. These young patients do present with more advanced disease and with aggressive features. We demonstrated in our study that the colon cancer tumor biology was different between young and older patients. We also singled out a particular gene, Cartilage oligomeric Matrix Protein (COMP) which was significantly over-expressed in young patients and demonstrated its role in cancer proliferation and metastasis and also its potential as a prognostic biomarker since we were able to detect it in plasma. (more…)
Author Interviews, Depression, Genetic Research, JAMA / 19.04.2019

MedicalResearch.com Interview with: Dr Kimberley Kendall MBBCh Wellcome Trust Clinical Research Fellow Professor James Walters MRC Centre for Neuropsychiatric Genetics and Genomics Professor, Division of Psychological Medicine and Clinical Neurosciences Cardiff University   MedicalResearch.com: What is the background for this study? Response: Copy number variants (CNVs) are the deletion or duplication of large sections of DNA. Large, rare CNVs have been shown to increase the risk of neurodevelopmental disorders including autism spectrum disorder (ASD), intellectual disability (ID), attention deficit/hyperactivity disorder (ADHD) and schizophrenia. However, the impact of these CNVs on risk of depression was unclear from the existing literature. (more…)
Author Interviews, Cancer Research, Genetic Research / 18.04.2019

MedicalResearch.com Interview with: Rachid Karam, PhD Director, Ambry Translational Genomics Lab Ambry Genetics  MedicalResearch.com: What is the background for this study? Response: DNA genetic testing (DGT) for hereditary cancer genes is now a well accepted clinical practice; however, the interpretation of DNA variation remains a challenge to laboratories and medical providers. RNA genetic testing (RGT) as a supplement to DGT is a means to clarify the clinical actionability of variants in hereditary cancer genes, improving our ability to accurately apply known strategies for cancer risk reduction. (more…)
Author Interviews, Genetic Research, Microbiome / 13.04.2019

MedicalResearch.com Interview with: Kyung Mo Kim Senior research scientist Korea Polar Research Institute. Professor Gustavo Caetano-Anollés Carl R. Woese Institute for Genomic Biology University of Illinois Arshan Nasir Distinguished Fellow Los Alamos National Laboratory in New Mexico MedicalResearch.com: What is the background for this study? What are the main findings? Response: Horizontal gene transfer is the process by which unrelated microorganisms can exchange genes. The famous examples would be transfer of antibiotic resistance genes among bacteria that renders many commercially expensive antibiotics useless. From an evolutionary point of view, it complicates our understanding of how bacteria are related since even distantly-related bacteria can share genes and then cluster together on evolutionary trees. Thus better understanding horizontal evolution is important for both public health and our basic understanding of microbial taxonomy and evolution. There are some excellent existing methods of HGT detection that compare DNA features (e.g. GC%, codon usage) or statistical similarity between genomes to identify foreign genes. However, these methods work better to identify recently transferred genes. Transfers that happened millions or billions of years ago cannot be reliably detected since DNA sequences evolve over time during which foreign DNA can become more host-like. That is why we focused our attention on utilizing approaches that are based on sound evolutionary principles. If a gene is horizontally acquired, then a phylogenetic tree of that gene will be different from the reference or known tree of the organisms. The true phylogenetic tree of organisms describes how organisms have descended from a common ancestor through inheritance of genes. If a gene is acquired from a source outside the parents or from an unrelated organism, then there will be a conflict between gene tree and the reference/known species tree. This conflict can be indication of HGT. (more…)
Author Interviews, Epilepsy, Genetic Research, JAMA, Pediatrics / 12.04.2019

MedicalResearch.com Interview with: Dr. Ahmad Abou Tayoun, PhD Clinical Molecular Geneticist Director of the Genetics Laboratory Al Jalila Children’s United Arab Emirates MedicalResearch.com: What is the background for this study?   Response: In this study, we provide data in favor of using an exome-based testing approach, where parental samples can be readily accessible, for early onset epilepsy patients. The exome test includes all coding genes in the human genome. Although we perform exome sequencing on those patients, we demonstrate that a first tier analysis should include targeted interpretation of ~100 genes strongly associated with the disease. This analysis provides diagnoses in ~11% of the patients. Follow up parental testing on a limited number of patients (n=15) that had inconclusive results, revealed de novo (new mutations) variant status, leading to upgrade to positive reports in 7 patients and adding ~5% to the overall diagnostic yield. (more…)
Alcohol, Author Interviews, Genetic Research, Nature, University of Pennsylvania / 05.04.2019

MedicalResearch.com Interview with: Henry R. Kranzler, MD Professor of Psychiatry Perelman School of Medicine University of Pennsylvania MedicalResearch.com: What is the background for this study? What are the main findings? Response: Alcohol consumption and alcohol use disorder (AUD) are moderately heritable traits.  To date, genome-wide association studies (GWAS) have not examined these traits in the same sample, which limits an assessment of the extent to which genetic variation is unique to one or the other or shared. This GWAS examined a large sample (nearly 275,000 individuals) from the U.S. Veterans Affairs Million Veteran Program (MVP) for whom data on both alcohol consumption and alcohol use disorder diagnoses were available from an electronic health record.  We identified 18 genetic variants that were significantly associated with either alcohol consumption, AUD, or both. Five of the variants were associated with both traits, eight with consumption only, and five with alcohol use disorder only.  (more…)
Author Interviews, Diabetes, Genetic Research, JAMA, Mental Health Research, Schizophrenia / 03.04.2019

MedicalResearch.com Interview with: Prof Sabine Bahn MD PhD MRCPsych FRSB Cambridge Centre for Neuropsychiatric Research Jakub Tomasik, PhD Department of Chemical Engineering and Biotechnology University of Cambridge   MedicalResearch.com: What is the background for this study? What are the main findings?  Response: Schizophrenia patients are at increased risk of impaired glucose metabolism, yet the comorbidity between the two conditions cannot be fully explained by known risk factors such as obesity, smoking, stress or antipsychotic medication. Previous family and genome-wide studies have suggested that the co-occurrence between schizophrenia and impaired glucose metabolism might be due to shared genetic factors, as exemplified by increased risk of diabetes in first-degree relatives of schizophrenia patients, but the biological mechanisms underlying this association remain unknown. We examined the association between insulin resistance, schizophrenia polygenic risk and response to treatment in 58 drug-naive schizophrenia patients and 58 matched healthy individuals while controlling for a range of demographic (age, gender, body mass index), lifestyle (smoking, alcohol and cannabis use) and clinical (psychopathology scores, treatment drug) factors. We found that insulin resistance, a key feature contributing to the development of type 2 diabetes, significantly correlated with schizophrenia polygenic risk score in patients, with higher genetic risk of schizophrenia associated with increased insulin resistance. Furthermore, we found that patients with higher insulin resistance were more likely to switch medication during the first year of treatment, which implies lower clinical response.  (more…)
Author Interviews, Endocrinology, Genetic Research / 24.03.2019

MedicalResearch.com Interview with: Emily J. Gallagher, MD Assistant Professor of Medicine Endocrinology, Diabetes and Bone Disease Icahn School of Medicine at Mount Sinai  MedicalResearch.com: What is the background for this study? Response: Multiple Endocrine Neoplasia Syndrome Type 2 (MEN2) is an inherited endocrine disorder characterized by the development of pheochromocytoma, medullary thyroid carcinoma (MTC) and parathyroid tumors. It occurs due to activating missense variants in the RET gene. The estimated prevalence of MEN2 is 1 per 30,000 in the general population. Through a collaboration between The Center for Genomic Health, the Charles Bronfman Institute for Personalized Medicine, and the Division of Endocrinology at Mount Sinai, our aim was to investigate the prevalence and clinical manifestations of pathogenic RET variants in the multi-ethnic BioMe Biobank. The BioMe Biobank is an electronic health record-linked biobank with exome sequencing data available for more than 30,000 patients recruited across The Mount Sinai Health System. (more…)
Author Interviews, Genetic Research, JAMA, Prostate Cancer / 24.02.2019

MedicalResearch.com Interview with: Masaki Shiota MD, PhD Department of Urology Graduate School of Medical Sciences Kyushu University Fukuoka , Japan MedicalResearch.com: What is the background for this study? What are the main findings? Response:  3β-hydroxysteroid dehydrogenase-1 encoded by HSD3B1 is a rate-limiting enzyme required for all pathways of dihydrotestosterone synthesis, as well as converts abiraterone into Δ4-abiraterone (D4A), which blocks multiple steroidogenic enzymes and antagonizes the androgen receptor. A mutation (1245A>C) in HSD3B1 is shown to be resistant to proteasomal degradation, causing substantial accumulation of this enzyme and gain-of-function. Although the HSD3B1 (1245C) allele can be acquired by mutation, germ-line single nucleotide polymorphism (SNP; rs1047303) is also known to exist. Then, in this study, we investigated the significance of missense polymorphism in HSD3B1 gene among men treated with primary ADT or abiraterone. The results showed men carrying variant allele showed higher risk of progression in primary androgen-deprivation therapy, but vulnerable to abiraterone treatment. (more…)
Author Interviews, Genetic Research, Smoking, Tobacco / 22.02.2019

MedicalResearch.com Interview with: Dennis Drayna, PhD Chief of the Laboratory of Communication Disorders and the Section on Genetics of Communication Disorders National Institute on Deafness and Other Communication Disorders Part of the National Institutes of Health MedicalResearch.com: What is the background for this study? Response: In the United States, there are striking racial differences in the rate of menthol cigarette use.  Tobacco use is a major preventable source of morbidity and mortality in the population, and menthol cigarette use by African Americans represents an important issue for attempts to address minority health disparities. There have been many studies that have documented the role of inherited factors that contribute to smoking or tobacco use.  However, no studies have examined the role of genetic factors specifically in menthol tobacco use.  The preference for menthol cigarettes among African Americans has previously been attributed to cultural factors or industry advertising practices directed at this group. In our study, we asked whether genetic factors could explain why African-American smokers choose menthol cigarettes over non-menthol cigarettes. Our initial hypothesis was that variation in genes that encode the known menthol receptors was important in this difference, although we designed our study to look at all 21,000 protein-coding genes in the genome. (more…)
Author Interviews, Dermatology / 19.02.2019

MedicalResearch.com Interview with: Eli Sprecher MD PhD Professor and Chair, Division of Dermatology Deputy Director General for R&D and Innovation Tel Aviv Sourasky Medical Center Frederick Reiss Chair of Dermatology Sackler Faculty of Medicine Tel Aviv University, Tel Aviv, Israel and MedicalResearch.com: What is the background for this study? Response: Central centrifugal cicatricial alopecia (CCCA) is a form of hair loss (alopecia) which is extremely common and affects one in every 20 women of African origin. It starts usually during the fourth decade of life. Because it can be inherited from mothers to their children, it is thought to have a genetic basis. On the other hand, it is known to mainly affect women who use to groom their hair intensively. Thus it was thought that the disease stems from some form of inherited susceptibility to the damage incurred to the hair follicle by grooming habits. In the study we published, we searched for the genetic basis of CCCA. In contrast with the common form of alopecia (androgenetic alopecia or female pattern alopecia), CCCA is associated with scarring of the scalp skin, which means that once hair is lost, it will likely not re-grow. (more…)
Author Interviews, Personalized Medicine, Weight Research / 19.02.2019

MedicalResearch.com Interview with: Ruth Loos, PhD The Charles Bronfman Professor in Personalized Medicine Director, Genetics of Obesity and Related Traits Program Co-Director, Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York, NY     MedicalResearch.com: What is the background for this study? Which type of body fat distribution carries greater risk of diabetes or other obesity-related health disorders? Response: Obesity broadly consists of two component; [1] there is overall body size (assessed using BMI) and [2] there is fat distribution (assessed using WHR). Both are “heritable”, which mean that they are in part determined by our genome (and the other part is determined by our lifestyle). Over the past 15 years, geneticists have used an approach to screen the whole genome of thousands of people to identify genetic variations that differ between e.g. obese people vs non-obese people. We have applied this approach to both components of obesity and have found so far that genes for “overall body size” seem to act in the brain, likely controlling hunger, satiety, reward, etc., whereas the genes that determine where in the body the excess fat will be stored when you gain weight (i.e. fat distribution) seem to act more “locally” at the fat cell level itself, determining the storage and release of fat.  (more…)
Aging, Author Interviews, Genetic Research / 12.02.2019

MedicalResearch.com Interview with: Yurii Aulchenko Co-founder and Chief Scientist of PolyOmica PolyOmica is a research & development company providing services and tools for quantitative genetics and functional genomics. Peter Fedichev Founder and Chief Science Officer of Gero Gero is a data-driven longevity company developing innovative therapies that will strongly extend the healthy period of life also known as healthspan MedicalResearch.com: What is the background for this study? What are the main findings? Peter Fedichev, Gero: Age is the most important risk factor behind age-related diseases and death. Lifespan has increased quite dramatically over the last 150-200 years mostly due to the eradication of early-life mortality. What we find, however, is that the healthspan, understood as the chronic diseases-free period, is also on the rise, but not so much. It appears that lifespan is modifiable by interventions, at least in lab animals. It is therefore crucial to understand if the biology behind human healthspan. Is it the same as that of lifespan? What are the molecular pathways and genetic factors controlling the healthspan? At the end, we would like to develop interventions that extend not only lifespan, but also the healthspan. Everyone wants to stay healthy! Yurii Aulchenko, PolyOmica: We studied the incidence of the most prevalent age-related diseases in the large UK Biobank, one of the best repositories of biologically and medically relevant data from a very large cohort of aging individuals. We observed that the incidence (the chances of) all the major diseases increased exponentially with age. The diseases risk doubling time was about eight years, same as the mortality doubling time from the Gompertz mortality law, discovered as early as in 1825 and used in life insurance ever since. The similar patterns of age-dependent risk acceleration suggest a major common driver behind the diseases, that is most plausibly aging itself. Peter Fedichev, Gero: The incidence of the diseases could, therefore, be used as a biomarker of aging process. We used the age at the onset of the first age-related disease (the end of healthspan) as the target for a genome-wide association study (GWAS) and identified as many as 12 genetic loci associated with human healthspan. (more…)
Author Interviews, Genetic Research, JAMA, Race/Ethnic Diversity, Stroke / 11.02.2019

MedicalResearch.com Interview with: Sandro Marini, MD Research Fellow Jonathan Rosand Laboratory Massachusetts General Hospital Boston, MA 02114 MedicalResearch.com: What is the background for this study? What are the main findings? Response: The epsilon(ε) 4 allele of the Apolipoprotein E (APOE) gene increases risk for Alzheimer’s disease (AD) and intracerebral hemorrhage (ICH). In both diseases, it is believed to increase risk through the deposition of beta-amyloid within the brain and blood vessels, respectively. The effect of APOE ε4 on both AD and ICH risk changes across populations, for unclear reasons. In our study, we confirmed the role of APOE ε4 for ICH risk in whites and found that the risk-increasing effect of the 4 allele is demonstrable in Hispanics only when balancing out the effect of hypertension. (more…)
ADHD, Author Interviews, Genetic Research, Mental Health Research, Pediatrics, Schizophrenia / 31.01.2019

MedicalResearch.com Interview with: Silvia Alemany, PhD first author Barcelona Institute for Global Health (ISGlobal), a centre supported by "la Caixa". In collaboration with co-authors: Philip Jansen,MD, MSc and Tonya White, MD, PhD Erasmus University Medical Center, Rotterdam MedicalResearch.com: What is the background for this study? Response: Individuals affected by psychiatric disorders can demonstrate morphological brain abnormalities when compared to healthy controls. Although both genetic and environmental factors can account for these brain abnormalities, we expect that genetic susceptibility for psychiatric disorders has the greatest influence on the development of the brain. Genetic susceptibility for psychiatric disorders can be estimated at the individual level by generating polygenic risk scores. Using this methodology, genetic susceptibility to psychiatric disorders and cognition has been associated with behavior problems in childhood. These findings suggest that heritable neurobiological mechanisms are at play in very early in the course of the illnesses. (more…)
Author Interviews, Genetic Research, Hearing Loss, JAMA, Karolinski Institute / 21.01.2019

MedicalResearch.com Interview with: Christopher R. Cederroth | Ph.D. Docent Associate Professor Experimental Audiology | Department of Physiology and Pharmacology Karolinska Institutet Sweden MedicalResearch.com: What is the background for this study? Response: Tinnitus is experienced is experienced by a large proportion of the population and affects more than 15% of the population worldwide (estimated 70 million people in Europe). However, for near 3% of the population, tinnitus becomes a chronic bothersome and incapacitating symptom. Severe tinnitus interferes with sleep, mood, and concentration and thus impacts life quality, ultimately leading to sick leave and disability pension. A high cost to society has been reported, and since the prevalence of tinnitus has been predicted to double in Europe by 2050, there is an important need for an effective treatment. And today there are none, with the exception of cognitive behavioral therapy, which helps coping with it but does not remove the tinnitus. There has been a number of innovative treatment approaches, but they are overall not successful and it is now agreed that it is likely because tinnitus is a heterogeneous condition – meaning that we cannot consider tinnitus a single entity but an ensemble of different forms or subtypes, which need to be defined. Tinnitus has always been considered a condition influenced by environmental factors, but our initial studies suggested the opposite. Adoption studies are excellent in showing the influence of shared-environment effects and establish a genetic basis for a disease or a trait. It allows to test the transmission of a trait between the adoptee and their biological or their adoptive parent. Transmission via the biological parent is expected to be due to a heritable genetic effect, while transmission via the adoptive parent is associated with home-environment, the so-called shared-environmental effect. We used medical registry data to identify tinnitus patients and adoptees. (more…)
Author Interviews, Genetic Research, Nutrition / 18.12.2018

MedicalResearch.com Interview with: Denny Vågerö  PhD MSc CHESS, Centre for Health Equity Studies Department of Public Health Sciences Stockholm University, Stockholm, Sweden MedicalResearch.com: What is the background for this study? What are the main findings? Response: Transgenerational, epigenetic, response, has been shown in studies of animals and plants. Does it apply to humans? Previous findings of associations between grandparents early nutrition and grandchildren’s mortality have been controversial.  Two reasons for this: evidence in human studies has been based on rather small numbers and potential mechanisms are not very well understood. We have tested the hypothesis that there is “a male line transgenerational response” to nutritional events in pre-puberty in a study much larger than previous ones. We find support for this hypothesis in that boys who enjoyed unusually good access to food during their “slow growth period” (aged 9-12 years) seem to transmit a mortality risk on their grandsons but not granddaughters, in particular for cancer. (more…)
Author Interviews, Cancer Research / 12.12.2018

MedicalResearch.comInterview with:
Alexandra Avgustinova PhD
Postdoctoral fellow at the Institute for Research in Biomedicine (IRBBarcelona)

Dr. Avgustinova
Dr. Avgustinova

MedicalResearch.com:  What is the background for this study?

Response: The basis of this study was the strong association between closed chromatin and high mutation rate reported several years ago. We were surprised to see this observation being widely interpreted as a causal association, as it was largely based on correlative studies without experimental backing. Therefore we decided to experimentally test for the first time whether indeed altering chromatin opening would affect mutation rate or distribution within tumours.

MedicalResearch.com: What are the main findings?

Response: We found that, despite significantly increasing chromatin opening, loss of the histone methyltransferase G9a did not have any major influence on the mutation rate or distribution within cutaneous squamous cell carcinomas. These results demonstrate that chromatin opening does not play a major role in determining the mutation rate within tumours, and we speculate that other, confounded factors (e.g. replication timing or H3K36me3 levels) are likely causal for the observed association. This, however, remains to be proven experimentally.

Another major conclusion of our study was that although tumour initiation was delayed and tumour burden decreased in the absence of G9a, the tumours that did develop were highly aggressive due to selection for more aggressive tumour clones. This finding was contrary to many published reports suggesting G9a as a good candidate for clinical targeting, highlighting the need for long-term follow-up in pre-clinical studies.

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Author Interviews / 11.12.2018

MedicalResearch.com Interview with:

Kenneth H. Kraemer,M.D.
Chief DNA Repair Section
Laboratory of Cancer Biology and Genetics, Center for Cancer Research
National Cancer Institute

MedicalResearch.com:  What is the background for this study?

Response: At the National Cancer Institute, we have been examining patients with xeroderma pigmentosum (XP), a rare, recessively inherited, cancer-prone disease for many years. Therefore, with the increasing use of exome sequencing, we decided to see how closely"big data" corresponded with our clinical observations.  

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Annals Internal Medicine, Author Interviews, Columbia, Genetic Research, Kidney Disease / 27.11.2018

MedicalResearch.com Interview with: Hila Milo Rasouly, PhD Postdoctoral research scientist Ali Gharavi Lab Columbia University MedicalResearch.com: What is the background for this study? Response: Genome sequencing is increasingly used in clinical medicine to help make a clinical diagnosis and make predictions about potential future complications. The diagnostic yield and limitations for different indications are still being worked out.  We are interested in studying the applications of genome sequencing for chronic kidney diseases. It is estimated that 10% of adults have chronic kidney disease (CKD), and amongst them, 10% are caused by single-gene (Mendelian) forms of disease. The American College of Medical Genetics and Genomics developed guidelines on how to interpret genetic variants in order to make a genetic diagnosis. Our lab has been engaged in studying the yield and impact of genetic testing for  CKD, and in the course of our research, we realized that a very large number of individuals have genetic variants that may be classified as pathogenic based on automated application of the guidelines. However, in majority of these cases, the genetic variant was much too frequent in the population to be plausibly disease-causing or did not match up well with the clinical diagnosis. This led us to wonder about the risk of false-positive genetic diagnosis. To analyze this risk for false-positive genetic diagnosis, we analyzed the genome sequence of 7,974 self-reported healthy adults. (more…)
Author Interviews, Genetic Research, NEJM, Pulmonary Disease, Rheumatology / 24.10.2018

MedicalResearch.com Interview with: Joyce S. Lee, MD Associate Professor Director, Interstitial Lung Disease Program Department of Medicine Division of Pulmonary Sciences and Critical Care Medicine University of Colorado School of Medicine MedicalResearch.com: What is the background for this study? What are the main findings?  Response: Rheumatoid arthritis (RA) is a common inflammatory arthritis that can be complicated by interstitial lung disease (ILD). Patients with RA-ILD share clinical characteristics with another ILD called idiopathic pulmonary fibrosis (IPF). Given the similar clinical phenotype, our goal was to see if these lung diseases (IPF and RA-ILD) shared a common genetic risk factor. The MUC5B promoter variant is the most common risk factor (genetic and otherwise) for the development of IPF. Our findings demonstrate the MUC5B promoter variant is also a strong risk factor for the development of RA-ILD among patients with RA. (more…)
Author Interviews, BMJ, Genetic Research, Pain Research, Pediatrics / 17.10.2018

MedicalResearch.com Interview with: "DNA model" by Caroline Davis2010 is licensed under CC BY 2.0Hakon Hakonarson, MD, PhD Corresponding Author Xiao Chang, PhD Lead Author The Center for Applied Genomics Children’s Hospital Philadelphia Philadelphia, Pennsylvania MedicalResearch.com: What is the background for this study? What are the main findings? Response: Migraine is a genetic disorder characterized by recurrent and intense headaches often accompanied by visual disturbances. Genome-wide association studies (GWASs) are a powerful hypothesis-free tool for investigating the genetic architecture of human disease. Currently, multiple GWASs have been conducted on European adults with migraine that have successfully identified several migraine susceptibility genes involved in neuronal and vascular functions. Considering the prevalence of migraines varies across ethnicities, the genetic risk factors may be different in patients of African ancestries and European ancestries. In addition, if migraine presents at an early age (childhood), it may reflect elevated biological predisposition from genetic factors or increased susceptibility to environmental risk factors. We performed the first GWAS to investigate the susceptibility genes associated with migraine in African-American children. The main out come was that common variants at the 5q33.1 locus in the human genome are associated with migraine risk in African-American children. The genetic underpinnings at this locus responsible for this finding are less relevant in patients of European ancestry.  (more…)
Author Interviews, Cannabis, Genetic Research, JAMA, Mental Health Research / 17.10.2018

MedicalResearch.com Interview with: Dr. Nicole Karcher, PhD Post-doctoral scholar with the NIMH Training in Clinical Sciences fellowship Department of Psychiatry Washington University School of Medicine   MedicalResearch.com: What is the background for this study? What are the main findings? Response: For over fifteen years, researchers have debated the role that cannabis use plays in the development of both psychotic disorders as well as subthreshold psychotic symptoms, such as psychotic-like experiences (PLEs). There is still a lack of consensus regarding the nature of the association between cannabis use and psychosis risk, with some research finding evidence for genetic overlap, while other research finds evidence for potentially causal pathways. The current study examined data from twins and siblings from two different samples, the U.S.-based Human Connectome Project and the Australian Twin Registry, with a total of 4,674 participants. Overall, psychotic-like experiences were associated with three separate cannabis use variables [frequent (≥100 times) use, a Cannabis Use Disorder diagnosis, and current cannabis use]. Furthermore, the current research found evidence for both shared genetic and individual-specific contributions to the association between PLEs and these three cannabis use variables. More specifically, while the association between cannabis use and psychotic-like experiences was largely attributable to shared genetic factors, cannabis users were more likely to endorse PLEs in comparison to the relative who used cannabis less.  (more…)
Author Interviews, Genetic Research, PLoS, Smoking, Tobacco Research / 17.10.2018

MedicalResearch.com Interview with: "Photo booth: The Smoking Man" by simpleinsomnia is licensed under CC BY 2.0Pradeep G. Bhide, Ph.D. Professor | Jim and Betty Ann Rodgers Eminent Scholar Chair of Developmental Neuroscience Director, Center for Brain Repair Department of Biomedical Sciences Florida State University College of Medicine Tallahassee, FL MedicalResearch.com: What is the background for this study? What are the main findings? Response: Until now, much attention had been focused on the adverse effects of cigarette smoking by pregnant women on their children’s cognitive development. Some reports suggested that cigarette smoking during pregnancy can produce harmful effects in multiple generations of descendants (transgenerational effects). Not much had been known about the effects of paternal smoking, although more men smoke cigarettes than women. Our study shows that paternal nicotine exposure can be deleterious to the offspring in multiple generations. That is, cognitive function may be compromised in children and grandchildren of a nicotine-exposed male. Of course, our study was done in mice and not men.  However, since studies done in mice on maternal nicotine exposure produced results consistent with studies done in women and children, we believe that he findings from our present study likely can be extrapolated to humans.  (more…)
Author Interviews, Breast Cancer, Genetic Research / 10.10.2018

MedicalResearch.com Interview with: "JFK Plaza/ Breast Cancer Awareness" by nakashi is licensed under CC BY 2.0Univ.- Prof. Dr. Wolfgang Schreiner Section Biosimulation and Bioinformatics Center for Medical Statistics, Informatics, and Intelligent Systems Medical University of Vienna General Hospital WIEN / AUSTRIA MedicalResearch.com: What is the background for this study? What are the main findings? Response: The choice of correct individualized therapy for breast cancer depends on correct diagnosis: receptors for estrogen, progesterone and HER2 are determined routinely. However 5-10% of these routine diagnostics are inaccurate and may entail suboptimal therapy. We have paved the way for additional diagnostics from gene expression data so as to increase precision of diagnostics. (more…)
Author Interviews, Brigham & Women's - Harvard, Diabetes, Heart Disease, JACC / 02.10.2018

MedicalResearch.com Interview with: Scott David Solomon, MD Director, Noninvasive Cardiology Professor, Harvard Medical School Brigham and Women's Hospital  MedicalResearch.com: What is the background for this study? What are the main findings?  Response: The sodium glucose transport proteins are known to be important in regulating uptake of glucose. SGLT-1 is predominantly located in the gut and is responsible for uptake of glucose and galactose in the small intestine. Individuals born with severe mutations of this gene have severe malabsorption syndrome. We looked at genetic variants that lead to reduced function of the protein, but not complete loss of function, in a large cohort of individuals in the NIH funded Atherosclerosis Risk in Communities Study. We found that those with mutations in the gene had reduced glucose uptake, as measured by an oral glucose tolerance test, as well as less obesity, diabetes, heart failure and death. (more…)