Author Interviews, JAMA, Mental Health Research / 17.06.2014

Monika Waszczuk 1+3 PhD Student MRC SGDP Research Centre Institute of Psychiatry, King's College London DeCrespigny Park London UKMedicalResearch.com Interview with: Monika Waszczuk 1+3 PhD Student MRC SGDP Research Centre Institute of Psychiatry, King's College London DeCrespigny Park London UK MedicalResearch: What are the main findings of the study? Answer: Little is known about the genetic influences on the relationship between depression and anxiety disorders across development. We used two population-based prospective longitudinal twin and sibling studies to investigate phenotypic associations between the symptoms of these disorders, and tested genetic structures underlying these symptoms across three developmental stages: childhood, adolescence and early adulthood. We found that depression and anxiety disorder symptoms are largely distinct in childhood and are influenced by largely independent genetic factors. Depression and anxiety symptoms become more associated and shared most of their genetic etiology from adolescence. An overarching internalizing genetic factor influencing depression and all anxiety subscales emerged in early adulthood. These results provide preliminary evidence for different phenotypic and genetic structures of internalizing disorder symptoms in childhood, adolescence and young adulthood, with depression and anxiety becoming more associated from adolescence. (more…)
Author Interviews, Genetic Research, Mayo Clinic, Schizophrenia / 11.06.2014

Dr. Anders Nykjaer MD, PhD Mayo Clinic in Florida and Aarhus University in DenmarkMedicalResearch.com Interview with: Dr. Anders Nykjaer MD, PhD Mayo Clinic in Florida and Aarhus University in Denmark MedicalResearch: What are the main findings of the study? Dr. Nykjaer: It is well known that ADHD is a complex condition caused by a number of factors including genetic and environment. However, approximately 75% etiology is considered to be genetic and a large body of investigations suggests that it is multiple genes each with a moderate effect that is responsible for conferring susceptibility to ADHD. We have here found one single gene the dysfunction of which is sufficient to trigger the disease.  The gene encodes a receptor, SorCS2, which ensures correct wiring our reward system during embryonic development. Malfunction of the receptor causes ADHD-like symptoms in mice. It is well accepted that ADHD predisposes to psychiatric disorders and genetic reports have linked variations in the SorCS2 gene with schizophrenia. Studies are currently ongoing to evaluate if mutations disrupting the function of SorCS2 may also result in schizophrenia. If this is the case we have come closer to an explanation for the link between ADHD and psychiatric disorders. In the future when prenatal genetic screening becomes established, non-sense mutations in the SorCS2 gene can be used to predict that the child will develop ADHD with 100% certainty.   (more…)
Author Interviews, Dengue, Ebola, Genetic Research, Infections, NEJM, NIH / 24.04.2014

Sergio D. Rosenzweig, MD, PhD Director, Primary Immunodeficiency Clinic (PID-C) LHD, NIAID, NIH Head of the Infectious Diseases Susceptibility Unit at the Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases National Institutes of Health Bethesda, MD, 20892MedicalResearch.com Interview with: Sergio D. Rosenzweig, MD, PhD Director, Primary Immunodeficiency Clinic (PID-C) Head of the Infectious Diseases Susceptibility Unit at the Laboratory of Host Defenses, National Institutes of Allergy and Infectious Diseases National Institutes of Health Bethesda, MD, 20892 MedicalResearch.com: What are the main findings of the study? Dr. Rosenzweig: We diagnosed a disease called CDG-IIb in two siblings with severe development issues and very low levels of immunoglobulins, which include infection-fighting antibodies. These children were referred to the NIAID Primary Immunodeficiency Clinic through the NIH Undiagnosed Diseases Program. CDG-IIb is an extremely rare congenital disorder of glycosylation (CDG), with only one other case reported. The genetic defect of the disease disrupts glycosylation, the process for attaching and trimming sugars from proteins. Almost 50% of our proteins have sugars attached, and these are called glycoproteins. They include immunoglobulins and also some viral glycoproteins that are made when cells are infected by a virus. The spread of some viruses, including HIV and influenza, depend on viral glycoproteins in order to infect additional cells and form viral protective shields. We found that this type of virus was less able to replicate, infect other cells, or create adequate protective shields in CDG-IIb patient cells because of the glycosylation defect. In comparison, adenovirus, poliovirus, and vaccinia virus, which either do not rely on glycosylation or do not form protective glycoprotein shields, replicated normally when added to both CDG-IIb and healthy cells. (more…)
Author Interviews, Dental Research, Genetic Research / 23.03.2014

Dr. Panos N. Papapanou: Professor of Dental Medicine; Chairman, Section of Oral and Diagnostic Sciences Director, Division of Periodontics Section of Oral and Diagnostic Sciences, College of Dental Medicine, Columbia University, New York, NY, USAMedicalResearch.com Interview with: Dr. Panos N. Papapanou: Professor of Dental Medicine; Chairman, Section of Oral and Diagnostic Sciences Director, Division of Periodontics Section of Oral and Diagnostic Sciences, College of Dental Medicine, Columbia University, New York, NY MedicalResearch.com: What are the main findings of the study? Dr. Papapanou: Gene expression signatures in gum tissues obtained from patients with periodontitis identified two fairly robust clusters, suggesting potential differences in pathobiologic processes between the two groups. In addition, the two clusters displayed differences in important features of the disease (e.g., the extent and severity of periodontitis, and the level of colonization by periodontal bacteria). These findings indicate that gene expression patterns may form the basis for a novel, pathobiology-based classification of periodontitis. (more…)
Author Interviews, Case Western, Chemotherapy, Genetic Research, Lung Cancer, UT Southwestern / 22.03.2014

Dr. Azi Gazdar, MD UT Southwestern Medical Center W. Ray Wallace Distinguished Chair in Molecular Oncology Research Hamon Center for Therapeutic Oncology, PathologyMedicalResearch.com Interview with: Dr. Azi  Gazdar, MD UT Southwestern Medical Center W. Ray Wallace Distinguished Chair in Molecular Oncology Research Hamon Center for Therapeutic Oncology, Pathology MedicalResearch.com: What are the main findings of the study? Dr. Gazdar: We describe the characteristics of lung cancers arising in subjects who inherited a germline mutation that predisposes to lung cancer.  The mutation is rare in the general populations, and is inherited equally by both sexes.  However it is a potent predisposing gene, and one third of the never smoking carriers will develop lung cancer.  Thus, about 1% of patients who develop lung cancer carry the germline mutation.  This figure may rise as awareness of the condition and its link to lung cancer is raised among doctors diagnosing lung cancer. However, lung cancers mainly develop in women who are lifetime never smokers.  Lung cancer development is much less common among smokers and men, although accurate figures are not yet available. So the risk among carriers is somewhat similar to the BRCA genes predisposing to breast cancer, where a female carrier has about a 50% lifetime chance of developing breast cancer. The specific germline mutation (known as T790M) occurs in a gene known as epidermal growth factor receptor (EGFR) gene.  Sporadic mutations in this gene usually predict for effective responses to a class of drugs known as tyrosine kinase inhibitors (TKIs), which are widely used in the treatment of lung cancer.  However, the T790M mutation, when it occurs in sporadic tumors not associated with germline inheritance are resistant to TKI therapy.  Thus the prediction is that lung cancers arising in carriers with the germline mutation would also be resistant to TKI therapy. (more…)
Author Interviews, Genetic Research, Lipids, University of Michigan / 19.03.2014

dr_cristen_j_willerMedicalResearch.com Interview with: Cristen J. Willer, PhD Assistant Professor Division of Cardiovascular Medicine, Dept of Internal Medicine Dept of Human GeneticsDept of Computational Medicine and Bioinformatics University of Michigan Ann Arbor, MI 48109-5618 MedicalResearch.com: What are the main findings of the study? Dr. Willer: We wanted to find new genes related to heart disease, so we examined the DNA of approximately 10,000 Norwegian individuals and found 10 genes that are important regulators of blood cholesterol levels. Nine of these were well known to be related to lipids, but one gene was new.  It turned out to be in a region we'd previously noticed to be related to cholesterol, but it was a big region and we hadn't been able to pinpoint the gene yet.  Using this new approach, focusing on DNA differences that result in slightly different proteins in people, we zeroed in on the gene.  We then altered this gene in mice, and saw the predicted changes in cholesterol levels in mice. (more…)
Author Interviews, BMJ, Brigham & Women's - Harvard, Genetic Research, Medical Research Centers, Nutrition, Weight Research / 19.03.2014

Prof. Lu Qi, Assistant Professor, Department of Nutrition Harvard School of Public Health and Channing Division of Network Medicine Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MAMedicalResearch.com Interview with: Prof. Lu Qi, Assistant Professor, Department of Nutrition Harvard School of Public Health and Channing Division of Network Medicine Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA MedicalResearch.com: What are the main findings of the study? Dr. Lu Qi: In this study, we for the first time provide reproducible evidence from three large cohort studies to show that the association between regular consumption of fried foods and higher BMI was particularly pronounced among people with a greater genetic predisposition to obesity. On the other hand, the adverse genetic effects on BMI were also amplified by consuming more fried foods, the effects among those who ate fried foods more than four times a week was about twice as large compared with those who ate them less than once a week. (more…)
Author Interviews, Blood Pressure - Hypertension, Diabetes, Genetic Research, University of Pennsylvania / 05.03.2014

MedicalResearch.com Interview with: Brendan Keating D.Phil Assistant Professor, Dept of Pediatrics and Surgery, University of Pennsylvania Lead Clinical Data Analyst, Center for Applied Genomics Children's Hospital of Philadelphia,Brendan Keating D.Phil Assistant Professor, Dept of Pediatrics and Surgery, University of Pennsylvania Lead Clinical Data Analyst, Center for Applied Genomics Children's Hospital of Philadelphia Michael V. Holmes, MD, PhD, MSc, BSc, MRCP Transplant Surgery Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USAMichael V. Holmes, MD, PhD, MSc, BSc, MRCP Transplant Surgery Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA MedicalResearch.com: What are the main findings of the study? Answer: We found that individuals with a genetically-elevated BMI had higher blood pressure, inflammatory markers, metabolic markers and a higher risk of type 2 diabetes, although there was little correlation with coronary heart disease in this study population of over 34,500 European-descent individuals of whom over 6,000 had coronary heart disease. (more…)
Alcohol, Author Interviews, Genetic Research, University of Pennsylvania / 14.02.2014

Henry R. Kranzler, MD Professor, Department of Psychiatry Director of the Center for Studies of Addiction. University of Pennsylvania Perelman School of Medicine, PhiladelphiaMedicalResearch.com Interview with: Henry R. Kranzler, MD Professor, Department of Psychiatry Director of the Center for Studies of Addiction. University of Pennsylvania Perelman School of Medicine, Philadelphia MedicalResearch.com: What are the main findings of the study? Dr. Kranzler: The study had two main findings:
  • First, topiramate, at a maximal dosage of 200 mg/day, which is lower than the 300 mg/day used in prior treatment trials, substantially reduced the frequency of heavy drinking and increased the frequency of abstinent days more than placebo. The lower dosage was well tolerated.
  • Second, a variant in a gene that encodes a receptor subunit that binds topiramate moderated the response to topiramate. That is, C-allele homozygotes in the single nucleotide polymorphism rs2832407 in GRIK1, the gene encoding the GluK1 subunit of the kainate receptor, were the subgroup that accounted for the effects of topiramate on heavy drinking. This has important implications for the personalized treatment of alcohol use disorder, in that 40% of people of European ancestry have this genotype and, if confirmed, these findings would make it possible to screen people genetically to select an effective treatment.
(more…)
Author Interviews, Genetic Research, Psychological Science / 21.01.2014

Eric Lacourse, Ph.D. Professeur agrégé Département de sociologie Université de Montréal Groupe de Recherche sur l'Inadaptation Psychosociale chez l'enfant (GRIP) Centre de Recherche de l'Hôpîtal Ste-JustineMedicalResearch.com Interview with: Eric Lacourse, Ph.D.  Professeur agrégé Département de sociologie Université de Montréal Groupe de Recherche sur l'Inadaptation Psychosociale chez l'enfant  Centre de Recherche de l'Hôpîtal Ste-Justine MedicalResearch.com: What are the main findings of the study? Dr. Lacourse: The gene-environment analyses revealed that early genetic factors were pervasive in accounting for developmental trends, explaining most of the stability and change in physical aggression, ” Lacourse said. “However, it should be emphasized that these genetic associations do not imply that the early trajectories of physical aggression are set and unchangeable. Genetic factors can always interact with other factors from the environment in the causal chain explaining any behaviour.” (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, 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…)