Author Interviews, Genetic Research, Nature, Thyroid / 24.11.2013

Yuri E. Nikiforov, M.D., Ph.D. Professor of Pathology Vice Chair for Molecular Pathology Director, Division of Molecular & Genomic Pathology Department of Pathology University of Pittsburgh Pittsburgh, PA 15213MedicalResearch.com Interview Yuri E. Nikiforov, M.D., Ph.D. Professor of Pathology, Vice Chair for Molecular Pathology Director, Division of Molecular & Genomic Pathology Department of Pathology, University of Pittsburgh Pittsburgh, PA MedicalResearch.com: What are the main findings of the study? Dr. Nikiforov: This is examined temporal changes in mutational profiles and standardized histopathologic features of thyroid cancer in the U.S. over the last four decades. It showed a significant change in molecular profiles of thyroid cancer during the past 40 years as it determined two major trends in changing the mutational make-up of thyroid cancer: a rapid increase in the prevalence of RAS mutations, particularly for the last 10 years, and continuous decrease in frequency of RET/PTC rearrangement. The rising incidence of RAS mutations points to new and more recent etiologic factors, probably of a chemical or dietary nature. The decreasing incidence of RET/PTC rearrangements, a known marker of high-dose environmental and medical radiation, suggest that the impact of ionizing radiation, at least as related to high-dose environmental exposures and historical patterns of radiation treatment for benign conditions, is diminishing. (more…)
Author Interviews, Autism, Genetic Research / 30.10.2013

Linda Brzustowicz, M.D. Professor and Chair Department of Genetics Rutgers University Piscataway, NJ 08854MedicalResearch.com Interview with: Linda Brzustowicz, M.D. Professor and Chair Department of Genetics Rutgers University,Piscataway, NJ 08854 MedicalResearch.com: What are the main findings of the study? Dr. Brzustowicz: The objective of this study was to search for locations in the human genome that impact language ability in individuals with autism as well as in their family members without autism.  To do this, we recruited families with an individual with autism and at least one other family member without autism but with a language learning impairment.  We identified two locations in the human genome that are linked to language ability in these families.  Importantly, these locations do not appear to be specific to language impairment in the individuals with autism, but are related to language ability in other family members as well.  This suggests that while individuals with autism may have new, or de novo, genetic variations that are important for risk of illness, they may also carry inherited genetic variation that influence the expression of their illness.  The effects of these inherited variants can also be seen in the language performance of family members without autism. (more…)
Author Interviews, Cognitive Issues, Genetic Research, Memory / 11.10.2013

Dr. Rebecca Todd Assistant Professor University of British Columbia Department of Psychology Centre for Interactive Research on Sustainability 4342A-2260 West Mall Vancouver, BC V6T 1Z4MedicalResearch.com Interview with: Dr. Rebecca Todd Assistant Professor University of British Columbia Department of Psychology Centre for Interactive Research on Sustainability 4342A-2260 West Mall Vancouver, BC V6T 1Z4 MedicalResearch.com: What are the main findings of the study? Answer: What we found, in essence, is that some individuals are genetically predisposed to see the world more darkly than others. We find that a common gene variant is linked to perceiving emotional events --especially negative ones --¬ more vividly than others. This gene variant has been previously linked (by other researchers) to emotional memory and the likelihood of experiencing intrusive, or “flashback” memories following traumatic experience. Our findings suggest that in healthy young adults this enhanced emotional memory may be because individuals are more likely to perceive what’s emotionally relevant in the first place. We've all heard of rose colored glasses, but this is more like gene-colored glasses, tinted a bit darkly. (more…)
Author Interviews, Genetic Research / 10.10.2013

Erica D. Watson, PhD Lecturer in Reproductive Biology Centre for Trophoblast Research Dept Physiology, Development and Neuroscience University of Cambridge Physiology Building, Downing Site Cambridge, CB2 3EG, United Kingdom MedicalResearch.com Interview with: Erica D. Watson, PhD Lecturer in Reproductive Biology Centre for Trophoblast Research Dept Physiology, Development and Neuroscience University of Cambridge, United Kingdom MedicalResearch.com:  What are the main findings of the study? Dr. Watson: It has been known for decades that maternal folate deficiency increases the risk for a diverse range of health problems in her children, such as spina bifida, heart defects and growth restriction. Despite this, the molecular mechanism of folate during development was not well understood. Our study is important because it shows that the inability to break down folate due to a mutation in the gene Mtrr can affect the health not only in the immediate offspring but also of the next generation. We used mice for the study as they metabolize folate similarly to humans and because folic acid deficiency or mutations in the genes required to break down folate in humans result in similar developmental abnormalities and diseases in mice. This enabled us to explore how the molecular mechanism of folate deficiency impacted development, thereby causing health problems. (more…)
Author Interviews, Genetic Research, Hip Fractures, Weight Research / 25.09.2013

Professor Tuan V. Nguyen Osteoporosis and Bone Biology Program Garvan Institute of Medical Research 384 Victoria Street, Darlinghurst NSW 2010 AustraliaMedicalResearch.com Interview with: Professor Tuan V. Nguyen Osteoporosis and Bone Biology Program Garvan Institute of Medical Research 384 Victoria Street, Darlinghurst NSW 2010 Australia MedicalResearch.com: What are the main findings of the study? Dr. Nguyen: We analyzed polymorphisms of the FTO (fat mass and obesity) gene in 934 elderly women of Caucasian background, and found that carriers of minor genotype (AA) of the SNP rs1121980 had a two-fold increase in the risk of hip fracture compared with carriers of major genotype (GG). Approximately 20% of women are carriers of the AA genotype. We estimate that about 17% of hip fracture cases could be attributed to the variation within the gene. (more…)
Author Interviews, Genetic Research, Metabolic Syndrome, Nature, Surgical Research, Weight Research / 13.09.2013

MedicalResearch.com Interview with: Koji Ikeda, MD, PhD Assistant Professor Department of Cardiology Graduate School of Medical Science, Kyoto Prefectural University of Medicine Kyoto, Japan MedicalResearch.com: What are the main findings of the study?  Dr. Ikeda: The main findings of this study is the identification of a novel mechanism that regulates glucose homeostasis and energy metabolism, provided by Ecscr. Consequently, Ecscr modifies the insulin sensitivity and the progression of obesity, indicating that Ecscr is a new target for the treatment of metabolic syndrome. (more…)
Author Interviews, Cognitive Issues, Diabetes, Genetic Research / 11.09.2013

MedicalResearch.com Interview with: Ramit Ravona-Springer M.D., Psychiatrist Director of Memory Clinic, Sheba Medical Center, Tel Hashomer, Israel MedicalResearch.com: What are the main findings of the study? Answer: In a cohort of elderly, cognitively normal type 2 diabetes (T2D) subjects, those with Haptoglobin (Hp) 1-1 genotype present lower cognitive performance compared to Hp 2 carriers (Hp 1-2 and Hp 2-2). The contribution of cardiovascular risk factors to cognition was significantly higher in subjects with Hp1-1 genotype compared to Hp 2 carriers. (more…)
Alzheimer's - Dementia, Author Interviews, Genetic Research, JAMA / 30.08.2013

Ekaterina Rogaeva, PhD Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, CanadaDepartment of Medicine, University of Toronto, Toronto, Ontario, CanadaCambridge Institute for Medical Research and Department of Clinical Neurosciences, University of Cambridge, Cambridge, EnglandMedicalResearch.com Interview with: Ekaterina Rogaeva, PhD Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, CanadaDepartment of Medicine, University of Toronto, Toronto, Ontario, CanadaCambridge Institute for Medical Research and Department of Clinical Neurosciences, University of Cambridge, Cambridge, England MedicalResearch.com: What are the main findings of the study? Answer: We tested the hypothesis that late-onset Alzheimer disease (AD) might be in part explained by the homozygosity of unknown loci. In a genome-wide study of a Caribbean Hispanic population with noticeable inbreeding and high risk of AD we assessed the presence of long runs of homozygosity (ROHs) – regions where the alleles inherited from both parents are identical. Our results suggest the existence of recessive AD loci, since the mean length of the ROH per person was significantly longer in AD cases versus controls, and this association was stronger in familial AD. (more…)
Author Interviews, Diabetes, Genetic Research, Heart Disease, JAMA / 28.08.2013

Lu Qi, MD, PhD, FAHA Assistant Professor of Medicine Harvard Medical School Assistant Professor of Nutrition Harvard School of Public HealthMedicalResearch.com Interview with: Lu Qi, MD, PhD, FAHA Assistant Professor of Medicine Harvard Medical School Assistant Professor of Nutrition Harvard School of Public Health

MedicalResearch.com: What are the main findings of the study? Answer: The main findings include, we for the first time identified a genetic variant predisposing to high risk of coronary heart disease in patients with type 2 diabetes, using genome-wide association (GWA) approach. More interesting, we demonstrated that the variant may affect expression of a gene involved in metabolism of amino acid glutamic acid, which has been related to insulin secretion and heart health in previous studies. (more…)
Author Interviews, Dermatology, Genetic Research, Nature / 23.08.2013

MedicalResearch.com Interview with: Joyce Y Tung Ph.D.MedicalResearch.com Interview with: Joyce Y Tung Ph.D. Research Team 23andMe Inc. Mountain View, California, USA MedicalResearch.com: What are the main findings of the study? Dr. Tung: 23andMe researchers identified four genetic markers that were significantly associated with the development of stretch marks, including one near the elastin (ELN) gene. This finding may further explain why some individuals are more susceptible to the skin condition. Given that loose skin is a symptom of syndromes caused by deletion or loss-of-function mutations in ELN, these results also support the hypothesis that variations in the elastic fiber component of the skin extracellular matrix contribute to the development of stretch marks. (more…)
Author Interviews, Breast Cancer, Genetic Research / 20.08.2013

Steven A. Narod, MD Women’s College Research Institute 790 Bay St, 7th Floor Toronto, ON, M5G 1N8 CanadaMedicalResearch.com Author Interview: Steven A. Narod, MD Women’s College Research Institute 790 Bay St, 7th Floor Toronto, ON, M5G 1N8 Canada MedicalResearch.com: What are the main findings of the study? Answer: We found that the survival of women with breast cancer and a brca1 mutation was similar to that of women with breast cancer and no mutation. (more…)
Alzheimer's - Dementia, Author Interviews, Genetic Research, Mental Health Research / 16.08.2013

MedicalResearch.com Interview with: Dr. Ramon Trullas Research Professor CSIC Institute of Biomedical Research of Barcelona MedicalResearch.com: What are the main findings of the study? Answer: The findings reported in this manuscript that we consider can be underscored are: 1) Asymptomatic subjects at risk of developing sporadic Alzheimer’s disease (AD), as well as symptomatic patients diagnosed with probable sporadic AD show a low concentration of circulating cell free mitochondrial DNA (mtDNA) in cerebrospinal fluid (CSF). 2) Pre-symptomatic subjects carrying pathogenic PSEN1 gene mutations which cause early onset familial AD, also exhibit low mtDNA content in CSF. 3) Reduced mtDNA content in CSF occurs in preclinical PSEN1 mutation carriers at least one decade before patients are expected to manifest clinical signs of dementia and well before any alteration in currently known AD biomarkers. 4)  Low mtDNA content in CSF distinguishes patients diagnosed with AD from either controls or patients with fronto-temporal lobar degeneration. These findings indicate that the amount of circulating cell-free mtDNA content in CSF may be a novel biomarker for the early detection of AD in the preclinical stage of AD. Moreover, the observation that low mtDNA content in the CSF is associated with both sporadic and familial forms of AD suggests that, independently of the etiology, regulation of mtDNA content is a converging factor in the pathophysiology of AD. (more…)
Alzheimer's - Dementia, Author Interviews, Genetic Research, Nature / 16.08.2013

MedicalResearch.com Interview with: Steve Estus PhD Dept. of Physiology University of Kentucky Office: Room 332 Sanders-Brown Building 800 S. Limestone Street Lexington, KY 40536-0230 MedicalResearch.com: What are the main findings of the study? Answer: We report evidence for the function of a Alzheimer's genetic  risk factor.  This protective allele of the polymorphism decreases the splicing efficiency of exon 2 in CD33, a receptor protein that regulates microglial activation.  Loss of exon 2 appears to produce a dormant CD33 protein, resulting in increased microglial phagocytosis activity.  Overall, these findings confirm and extend recent papers in Neuron and Nature Neuroscience  (discussed further in our report) that described decreased CD33 activity with the protective SNP allele. (more…)
Author Interviews, Genetic Research, Kidney Disease, Nature, University of Pennsylvania / 12.08.2013

MedicalResearch.com Interview with: Dr. Wen-Ya Ko, Ph.D. Postdoctoral Fellow, First author of the paper Department of Genetics School of Medicine University of Pennsylvania 426 Clinical Research Building 415 Curie Boulevard Philadelphia, PA 19104-6145Dr. Wen-Ya Ko, Ph.D. Postdoctoral Fellow, First author of the paper Department of Genetics School of Medicine University of Pennsylvania 426 Clinical Research Building 415 Curie Boulevard Philadelphia, PA 19104-6145 Dr. Sarah Tishkoff, Ph.D., Senior author of the paper David and Lyn Silfen University Professor Departments of Genetics and Biology School of Medicine School of Arts and Sciences University of PennsylvaniaDr. Sarah Tishkoff, Ph.D., Senior author of the paper David and Lyn Silfen University Professor Departments of Genetics and Biology School of Medicine School of Arts and Sciences University of Pennsylvania MedicalResearch.com: What are the main findings of the study?

 Answer: In humans the APOL1 gene codes for Apolipoprotein L1, a major component of the trypanolytic factor in serum.  The APOL1 gene harbors two risk alleles (G1 and G2) associated with chronic kidney disease (CKD) among individuals of recent African ancestry. We studied APOL1 across genetically and geographically diverse ethnic groups in Africa. We have discovered a number of novel variants at the APOL1 functional domains that are required to lyse trypanosome parasites inside human blood vessels. We further identified signatures of natural selection influencing the pattern of variation on chromosomes carrying some of these variants. In particular, we have identified a haplotype (a cluster of genetic variants linked along a short region of a chromosome), termed G3, that has evolved adaptively in the Fulani population who have been practicing cattle herding which has been historically documented as early as in the medieval ages (but which could have begun thousands of years earlier).  Many of the novel variants discovered in this study are candidates to play a role conferring protection against trypanosomiasis and/or to play a role in susceptibility of CKD in humans. (more…)
Asthma, Author Interviews, Genetic Research, Smoking, UCLA / 06.08.2013

MedicalResearch.com Interview with: Virender Rehan, MD Professor of Pediatrics Chief, Division of Neonatology Director, Neonatal Intensive Care Unit Director, Neonatal-Perinatal Fellowship Training Program Co-Director Perinatal Research Center Harbor UCLA Medical Center, David Geffen School of Medicine at UCLA Torrance, CA, 90502 MedicalResearch.com: What are the main findings of the study? Dr. Rehan: The main findings of the study include the likelihood of transmission of asthma to third generation offspring following maternal smoking during pregnancy even when child’s mother didn’t smoke. And these effects seem to be more profound in the upper airways of males compared to that in females. (more…)
Asthma, Author Interviews, Duke, Genetic Research, Lancet, NEJM / 10.07.2013

Daniel Belsky, PhD NIA Postdoctoral Fellow Center for the Study of Aging and Human Development Duke UniversityMedicalResearch.com Interview with: Daniel Belsky, PhD NIA Postdoctoral Fellow Center for the Study of Aging and Human Development Duke University Polygenic risk and the development and course of asthma: an analysis of data from a four-decade longitudinal study MedicalResearch.com: What are the main findings of the study? Dr. Belsky : We looked to the largest-ever genome-wide association study of asthma (that study by the GABRIEL Consortium included more than 26,000 individuals) to identify genetic variants that could be used to construct a genetic profile of asthma risk. We then turned to The Dunedin Multidisciplinary Health and Development Study, a unique cohort of 1,000 individuals who have been followed from birth through their fourth decade of life with extensive measurements of asthma and related traits. We computed a “genetic risk score” for each person based on the variants identified in GWAS.  Then, we looked at who developed asthma, when they developed asthma, and what that asthma looked like in terms of allergic response and impaired lung function. What we found: (1) People with higher genetic risk scores were more likely to develop asthma and they developed asthma earlier in life. (2) Among children who developed asthma, the ones at higher genetic risk were more likely to have persistent asthma through midlife. (3) Genetic risk was specifically associated with allergic asthma that resulted in chronic symptoms of impaired lung function. (4) People with higher genetic risk score developed more severe cases of asthma. As compared to people with a lower genetic risk, they were more often absent from school and work because of asthma and they were more likely to be hospitalized for asthma. (5) The genetic risk score provided new information about asthma risk that could not be obtained from a family history. (more…)
Author Interviews, Cancer Research, Genetic Research, Lung Cancer / 26.05.2013

MedicalResearch.com Authors’ Interview: Sophie Rousseaux and Saadi Khochbin INSERM, U823; Université Joseph Fourier, Grenoble 1; Institut Albert Bonniot, Grenoble F-38700, France. MedicalResearch.com: What are the main findings of the study? Answer: We first discovered that all cancer cells lose the ability to maintain gene silencing and therefore activate genes that should normally remain silent. Although present in all cells, some genes are normally expressed (or “active”) only in one cell type. For example, normal lung cells do not express genes that are only active in germ cells (i. e., cells that will become spermatozoa), but lung cancerous cells activate some of these germ cells-specific genes. In this work we designed a specific approach to detect these aberrant gene expressions and found that they occur in all cancers of all origins. We then decided to exploit this phenomenon to help the detection of cancers and predict their evolution. For this purpose, we chose to focus on lung cancer to establish “a proof of principle”. We found that, among all the genes wrongly expressed in the tumour cells, the activation of 26 of them enabled us to identify the most aggressive lung cancers. Compared with the existing information currently available for doctors (i.e.; tumour size, its pathological subtype…), our approach brings much more precision in predicting the evolution of the tumours and the prognosis of the patients. (more…)
Author Interviews, Breast Cancer, Genetic Research, PNAS / 03.04.2013

MedicalResearch.com eInterview with Dr. Mathieu Lupien PhD Dr. Mathieu Lupien PhD Princess Margaret Cancer Centre, University Health Network Ontario Cancer Institute (OCI) Assistant Professor Department of Medical Biophysics University of Toronto Princess Margaret Cancer Centre, University Health Network Ontario Cancer Institute (OCI) Assistant Professor Department of Medical Biophysics University of Toronto MedicalResearch.com: What are the main findings of the study? Dr. Lupien: Approximately 50% of breast cancer patients fail to respond to the standard of care based on endocrine (hormonal) therapy. Our research identifies a mechanism that accounts for this resistance. Drugs against this mechanism are already tested for other diseases. Hence, our discovery should rapidly help reposition these drugs against endocrine therapy resistant breast cancer. (more…)
Author Interviews, Duke, Genetic Research, Leukemia, MD Anderson, UT Southwestern / 23.03.2013

MedicalResearch.com Author Interview: Jun J. Yang, Ph.D. Assistant Member Dept. of Pharm. Sci. St. Jude Children's Research Hospital 262 Danny Thomas Pl., MS313 Memphis, TN 38105 MedicalResearch.com: What are the main findings of the study? Dr. Yang: We performed a comprehensive survey of inherited genetic variations for their contribution to the susceptibility of acute lymphoblastic leukemia (ALL), the most common cancer in children. This is by far the largest study of its kind (in terms of the number of subjects involved), and also the first one to include multi-ethnic populations. We identified 4 genomic loci related to the predisposition to ALL, 2 of which contributed to racial differences in the incidence of ALL.  This study provided unequivocal evidence for inherited susceptibility of childhood ALL and pointed to novel biology of the pathogenesis of this disease. (more…)