DOCSLIB.ORG

RAPPORT ANNUEL Du Centre De Recherche Du CHU De Québec - Université Laval 2016-2017

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
RAPPORT ANNUEL Du Centre De Recherche Du CHU De Québec - Université Laval 2016-2017 RAPPORT ANNUEL du Centre de recherche du CHU de Québec - Université Laval 2016-2017 Table des matières MESSAGE DU PRÉSIDENT DU CONSEIL D’ADMINISTRATION ET DE LA PRÉSIDENTE- DIRECTRICE GÉNÉRALE DU CHU DE QUÉBEC ‒ UNIVERSITÉ LAVAL...................................... 4 MESSAGE DE LA VICE-RECTRICE À LA RECHERCHE, À LA CRÉATION ET À L’INNOVATION DE L’UNIVERSITÉ LAVAL ............................................................................................................... 5 MESSAGE DU DIRECTEUR DU CENTRE DE RECHERCHE .......................................................... 6 LA VISION, LA MISSION, LES VALEURS, LES OBJECTIFS .......................................................... 9 ORGANIGRAMME .......................................................................................................................... 10 STRUCTURE DU CENTRE DE RECHERCHE ................................................................................ 11 Bureau de direction du Centre de recherche ..................................................................................................13 Comité de gestion ..............................................................................................................................................13 INDICATEURS DES ACTIVITÉS DE RECHERCHE ....................................................................... 14 ENDOCRINOLOGIE ET NÉPHROLOGIE ....................................................................................... 16 Prix, reconnaissances et distinctions des chercheurs ..................................................................................16 Prix, reconnaissances et distinctions des étudiants .....................................................................................18 MALADIES INFECTIEUSES ET IMMUNITAIRES ........................................................................... 20 Prix, reconnaissances et distinctions des chercheurs ..................................................................................20 Prix, reconnaissances et distinctions des étudiants .....................................................................................22 MÉDECINE RÉGÉNÉRATRICE ...................................................................................................... 23 Prix, reconnaissances et distinctions des chercheurs ..................................................................................23 Prix, reconnaissances et distinctions des étudiants .....................................................................................24 NEUROSCIENCES ......................................................................................................................... 26 Prix, reconnaissances et distinctions des chercheurs ..................................................................................26 Prix, reconnaissances et distinctions des étudiants .....................................................................................27 ONCOLOGIE................................................................................................................................... 29 Prix, reconnaissances et distinctions des chercheurs ..................................................................................29 Prix, reconnaissances et distinctions des étudiants .....................................................................................31 REPRODUCTION, SANTÉ DE LA MÈRE ET DE L’ENFANT ......................................................... 32 Prix, reconnaissances et distinctions des chercheurs ..................................................................................32 Prix, reconnaissances et distinctions des étudiants .....................................................................................34 SANTÉ DES POPULATIONS ET PRATIQUES OPTIMALES EN SANTÉ ...................................... 35 Prix, reconnaissances et distinctions des chercheurs ..................................................................................35 Prix, reconnaissances et distinctions des étudiants .....................................................................................37 2 LES CHERCHEURS ....................................................................................................................... 39 Axe Endocrinologie et néphrologie .................................................................................................................39 Axe Maladies infectieuses et immunitaires .....................................................................................................40 Axe Médecine régénératrice .............................................................................................................................41 Axe Neurosciences ............................................................................................................................................42 Axe Oncologie ....................................................................................................................................................43 Axe Reproduction, santé de la mère et de l’enfant ........................................................................................44 Axe Santé des populations et pratiques optimales en santé ........................................................................45 Chercheurs cliniciens – Recherche hors axe .................................................................................................46 PUBLICATIONS .............................................................................................................................. 48 Axe Endocrinologie et néphrologie .................................................................................................................48 Axe Maladies infectieuses et immunitaires .....................................................................................................60 Axe Médecine régénératrice .............................................................................................................................76 Axe Neurosciences ............................................................................................................................................83 Axe Oncologie ....................................................................................................................................................92 Axe Reproduction, santé de la mère et de l’enfant ......................................................................................102 Axe Santé des populations et pratiques optimales en santé ......................................................................107 Chercheurs cliniciens (Recherche hors axe) ................................................................................................129 COORDONNÉES .......................................................................................................................... 135 REMERCIEMENTS AUX PARTENAIRES .................................................................................... 136 Le présent Rapport annuel couvre la période du 1er avril 2016 au 31 mars 2017. 3 Message du président du conseil d’administration et de la présidente-directrice générale du CHU de Québec ‒ Université Laval Mesdames, Messieurs, Il nous fait plaisir de vous présenter le Rapport annuel 2016-2017 du Centre de recherche du CHU de Québec ‒ Université Laval, qui constitue une belle occasion de montrer à nouveau la vivacité des recherches orchestrées par tous ses membres, dont la curiosité et la détermination sont source d’inspiration et contribuent à l’amélioration des chances de guérison et de la qualité de vie des patients. La recherche est au cœur de la quadruple mission du CHU de Québec-Université Laval, une institution au service de la population, dont le personnel dévoué contribue à rendre notre grande organisation capable d’envisager l’avenir avec confiance et de se positionner avantageusement sur l’échiquier national et international des établissements universitaires. Nous profitons de cette occasion pour remercier chaleureusement tous les chercheurs et leurs équipes pour leur engagement indéfectible envers cette belle et grande mission qu’est la recherche. Bonne lecture ! Gaston Bédard Gertrude Bourdon Président du Conseil d’administration Présidente-directrice générale www.chudequebec.ca 4 Vice-Rectorat à la recherche, à la création et à l’innovation Message de la vice-rectrice à la recherche, à la création et à l’innovation de l’Université Laval Mesdames, Messieurs, La recherche est au cœur d’une multitude de décisions et d’actions, et ce rapport annuel met en lumière l’importante concentration de talents et de connaissances de notre établissement, tout en démontrant que l’union entre les différents types de recherche peut conduire à des percées scientifiques pouvant changer des vies et, ultimement, les sauver. L’excellence en recherche passe, entre autres, par l’ouverture à l’interdisciplinarité : en misant sur les forces de chacun, nous pourrons assurer l’avancement de nos missions, projeter le Centre de recherche du CHU de Québec-Université Laval vers de plus grands accomplissements et faire partie, aussi bien collectivement qu’individuellement, de ceux qui font la différence. Je suis fière de contribuer à offrir à nos chercheurs et à nos étudiants de nouvelles opportunités de faire avancer les sciences et les technologies de la santé. Je tiens à féliciter et à remercier tous ces partenaires que sont les membres du Centre de recherche qui, par leur travail
Load more

Recommended publications
  • Gene-By-Environment Interactions in Urban Populations Modulate Risk Phenotypes
    ARTICLE DOI: 10.1038/s41467-018-03202-2 OPEN Gene-by-environment interactions in urban populations modulate risk phenotypes Marie-Julie Favé1,2, Fabien C. Lamaze1, David Soave1, Alan Hodgkinson2,3, Héloïse Gauvin2,4, Vanessa Bruat1,2, Jean-Christophe Grenier 1,2, Elias Gbeha1, Kimberly Skead1, Audrey Smargiassi5, Markey Johnson6, Youssef Idaghdour7 & Philip Awadalla1,2,8,9 Uncovering the interaction between genomes and the environment is a principal challenge of 1234567890():,; modern genomics and preventive medicine. While theoretical models are well defined, little is known of the G × E interactions in humans. We used an integrative approach to compre- hensively assess the interactions between 1.6 million data points, encompassing a range of environmental exposures, health, and gene expression levels, coupled with whole-genome genetic variation. From ∼1000 individuals of a founder population in Quebec, we reveal a substantial impact of the environment on the transcriptome and clinical endophenotypes, overpowering that of genetic ancestry. Air pollution impacts gene expression and pathways affecting cardio-metabolic and respiratory traits, when controlling for genetic ancestry. Finally, we capture four expression quantitative trait loci that interact with the environment (air pollution). Our findings demonstrate how the local environment directly affects disease risk phenotypes and that genetic variation, including less common variants, can modulate individual’s response to environmental challenges. 1 Ontario Institute for Cancer Research, Toronto, ON M5G 0A3, Canada. 2 Sainte-Justine Research Center, Faculty of Medicine, University of Montreal, Montreal, QC H3T 1C5, Canada. 3 Department of Medical and Molecular Genetics, Guy’s Hospital, King’s College London, London, WC2R 2LS, UK.
    [Show full text]
  • ÉTUDES MÉDIATISÉES DANS LES MÉDIAS ET SUR LE WEB Édition Du 30 Janvier 2013
    Direction de la recherche du CHU Sainte-Justine ÉTUDES MÉDIATISÉES DANS LES MÉDIAS ET SUR LE WEB Édition du 30 janvier 2013 September 28, 2012 Study of Dr. Gregor Andelfinger and Dr. Marc-Phillip Hitz Major genetic discovery explains 10 percent of aortic valve disease READ THE PRESS RELEASE Researchers at the Sainte-Justine University Hospital Center and University of Montreal have identified genetic origins in 10% of an important form of congenital heart diseases by studying the genetic variability within families. "This is more than the sum of the genes found to date in all previous studies, which explained only 1% of the disease, says Dr. Marc-Phillip Hitz, lead author of the study published in PLoS Genetics, under the direction of Dr. Gregor Andelfinger, pediatric cardiologist and principal investigator leading an international research team, who calls this study "a very important step towards a molecular catalog, which ultimately may explain the evolution of disease in individual patients and allow to influence the progression of the disease." MEDIA COVERAGE : Genome Québec Science Daily Continental News UdeMNouvelles Medical X Press AlphaGalileo Biospace Bioscholar Muckrack Healthfitnessok Breakthrough Digest Medical News Cours de médecine (5979 personnes suivent cette page sur Facebook) October 31, 2012 Study of Dr. Grant Mitchell Confirmation of nitisinone efficacy for life-threatening liver disease READ THE PRESS RELEASE A consortium of Quebec researchers coordinated by the Medical Genetics Service of the Sainte- Justine UHC has just published the findings of a 25-year study on the treatment of tyrosinemia, a life-threatening liver disease of genetic origin, which is screened at birth in the province of Quebec, where it is much more frequent than anywhere else in the world.
    [Show full text]
  • Consent Environment and Nutrition
    The world within you Information brochure for participants ENVIRONMENT AND NUTRITION COMPONENT Production of this brochure has been made possible through a finacial contribution from Health Canada, through the Canadian Partneship Against Cancer. Introduction CARTaGENE, a research infrastructure consisting of a database and a biobank of biological samples, was designed to facilitate research in the field of health and genomics. Purpose of this Recontact CARTaGENE is again seeking your collaboration for a new component called “Environment and Nutrition.” This new component will allow CARTaGENE to add data to its database and thus provide new data for health and genomics research. This new component will allow the collection of detailed information on your eating habits and exposure to the environment. Environment and Nutrition We now know that the food we consume and the environment where we live are related to our state of health. However, we still know relatively little about these relationships and their impact on the health of individuals. The Environment and Nutrition component aims to increase our knowledge on this subject. The Environment and Nutrition component is divided into two modules. The Environment module comes first, and the Nutrition module will follow. Your consent given for the first phase of CARTaGENE’s data and sample collection included this option to be recontacted for further studies. The Environment and Nutrition component is such a study. Your participation remains voluntary however. Before making your decision, it is important that you read this brochure and the consent forms included so as to understand the implications of participating in either or both modules of this component.
    [Show full text]
  • 2012–2017 Priorities for Public Health Genomics Stakeholder Consultation | Priorities Conference Report | September 2011 2012–2017
    PRIORITIES FOR PUBLIC HEALTH GENOMICS GENOMICS HEALTH PUBLIC FOR PRIORITIES 2012–2017 PRIORITIES FOR PUBLIC HEALTH GENOMICS STAKEHOLDER CONSULTATION | PRIORITIES CONFERENCE REPORT | SEPTEMBER 2011 2012–2017 PRIORITIES FOR PUBLIC HEALTH GENOMICS 2012–2017 STAKEHOLDER CONSULTATION | PRIORITIES CONFERENCE REPORT SEPTEMBER 2011 Funding for this project was made possible by the Centers for Disease Control and prevention through McKing Consulting Corporation, contract 200-2009-F-32675. The contents are solely the responsibility of the authors and do not necessarily represent the official views of CDC. PREFACE Priorities for Public Health Genomics 2012–2017 This report results from an initiative of the Office of Public Health Genomics, Centers for Disease Control and Prevention (CDC/OPHG) to recommend priorities to advance the field of public health genomics during the five year period 2012–2017. CDC/OPHG initiated three activities to develop these priority recommendations: (1) an extensive consultation of public health genomics stakeholders conducted by the Center for Public Health and Community Genomics at the University of Michi- gan School of Public Health , including a) analysis of a Request for Information (RFI) issued by the Department of Health and Human Services/ CDC, b) interviews of key informants from the public health system and c) informal discussions with community- and practice-based public health practitioners; (2) interviews of key informants from the non-profit and for-profit sectors conducted by Genetic Alliance; and (3) an all-day meeting held in Bethesda, MD on September 14, 2011, attended by over 70 leaders in the field of public health genomics, based in academic institutions, public health and health care organizations, and community-based organizations.
    [Show full text]
  • Thèse Numérique
    Université de Montréal The French Canadian founder population: lessons and insights for genetic epidemiological research par Héloïse Gauvin Département de médecine sociale et préventive École de Santé publique Thèse présentée à l’École de Santé Publique en vue de l’obtention du grade de Philosophiae Doctor (PhD) en Santé Publique option Épidémiologie Août 2015 © Héloïse Gauvin, 2015 Université de Montréal Faculté des études supérieures et postdoctorales Cette thèse intitulée : The French Canadian founder population: lessons and insights for genetic epidemiological research présentée par : Héloïse Gauvin a été évaluée par un jury composé des personnes suivantes : Dr. Anne-Marie Laberge, président-rapporteur Dr. Philip Awadalla, directeur de recherche Dr. Marie-Pierre Dubé, codirectrice de recherche Dr. Marie-Élise Parent, membre de jury Dr. Marc Tremblay, examinateur externe Dr. Guillaume Lettre, représentant du doyen de la FES Résumé La population canadienne-française a une histoire démographique unique faisant d’elle une population d’intérêt pour l’épidémiologie et la génétique. Cette thèse vise à mettre en valeur les caractéristiques de la population québécoise qui peuvent être utilisées afin d’améliorer la conception et l’analyse d’études d’épidémiologie génétique. Dans un premier temps, nous profitons de la présence d’information généalogique détaillée concernant les Canadiens français pour estimer leur degré d’apparentement et le comparer au degré d’apparentement génétique. L’apparentement génétique calculé à partir du partage génétique identique par ascendance est corrélé à l’apparentement généalogique, ce qui démontre l'utilité de la détection des segments identiques par ascendance pour capturer l’apparentement complexe, impliquant entre autres de la consanguinité.
    [Show full text]
  • Challenges and Promises of Big Data in Healthcare
    FOCUS | REVIEW ARTICLE FOCUS | REVIEWhttps://doi.org/10.1038/s41591-019-0727-5 ARTICLE Axes of a revolution: challenges and promises of big data in healthcare Smadar Shilo1,2,3,4, Hagai Rossman 1,2,4 and Eran Segal 1,2* Health data are increasingly being generated at a massive scale, at various levels of phenotyping and from different types of resources. Concurrent with recent technological advances in both data-generation infrastructure and data-analysis methodolo- gies, there have been many claims that these events will revolutionize healthcare, but such claims are still a matter of debate. Addressing the potential and challenges of big data in healthcare requires an understanding of the characteristics of the data. Here we characterize various properties of medical data, which we refer to as ‘axes’ of data, describe the considerations and tradeoffs taken when such data are generated, and the types of analyses that may achieve the tasks at hand. We then broadly describe the potential and challenges of using big data in healthcare resources, aiming to contribute to the ongoing discussion of the potential of big data resources to advance the understanding of health and disease. ealth has been defined as “a state of complete physical, on the volume of data needed for a dataset to be considered big5, mental and social well-being and not merely the absence of other definitions are qualitative, focusing on the size or complexity disease or infirmity”1. This definition may be expanded to of data that are too large to be properly analyzed by traditional data- H 6 view health not as a single state but rather as a dynamic process analysis methods .
    [Show full text]
  • Genetic Determinants of Fat Intake and Risk Factors of Chronic Diseases
    Genetic determinants of fat intake and risk factors of chronic diseases Tongzhu Meng School of Human Nutrition McGill Univeristy Montreal, Quebec, Canada August 2020 A thesis submitted to McGill University in partial fulfillment of the requirements of the degree of Master of Science ¤ Tongzhu Meng, 2020 i TABLE OF CONTENTS TITLE PAGE………………………………………………………………………………….i TABLE OF CONTENTS…………………………………………………………….……....ii ABSTRACT……………………………………………………………………………….....iii RÉSUMÉ……………………………………………………………………………………...v ACKNOWLEDGMENTS……………………………………………………………….....vii CONTRIBUTION OF AUTHORS………………………………………………………..viii LIST OF TABLES……………………………………………………………………….......ix LIST OF FIGURES………………………………………………………………………......x LIST OF ABBREVIATIONS……………………………………………………………….xi CHAPTER 1: RATIONALE AND OBJECTIVES ….………………………………….....1 1.1 Rationale…………………………………………………………………………………2 1.2 Hypotheses ………………………………………………………………………………4 1.3 Objectives …………………………………………………………………………….....4 CHAPTER 2: LITERATURE REVIEW…………………………………………………....5 2.1 General taste……………………………………………………………………………..6 2.2 Taste physiology………………………………………………………………………....7 2.2.1 The taste system and taste bud cell types………………………………………...7 2.2.2 Signaling mechanisms of taste perception……………………………………...11 2.3 Fat taste…………………………………………………………………………………12 2.3.1 Fat taste receptor………………………………………………………………..13 2.3.2 Fat, diet and adiposity…………………………………………………………..15 2.3.3 Measurements of the oral fatty acid threshold, fat perception, fatty food liking...19 2.4 Types of fat and lipid absorption ……………………………….………………………20
    [Show full text]
  • Platform Abstracts
    American Society of Human Genetics 66th Annual Meeting October 18–22, 2016 VANCOUVER, CANADA PLATFORM ABSTRACTS Tuesday, October 18, 5:00-6:20 pm: Abstract #’s Friday, October 21, 9:00-10:30 am, Concurrent Platform Session D: 2 Featured Plenary Abstract Session I Ballroom ABC, #1-#4 48 Mapping Cancer Susceptibility Alleles Ballroom A, West #189-#194 West Building Building 49 The Genetics of Type 2 Diabetes and Glycemic Ballroom B, West #195-#200 Wednesday, October 19, 9:00-10:30 am, Concurrent Platform Session A: Traits Building 6 Interpreting Variants of Uncertain Significance Ballroom A, West #5-#10 50 Chromatin Architecture, Fine Mapping, and Ballroom C, West #201-#206 Building Disease Building 7 Insights from Large Cohorts: Part 1 Ballroom B, West #11-#16 51 Inferring the Action of Natural Selection Room 109, West #207-#212 Building Building 8 Rare Germline Variants and Cancer Risk Ballroom C, West #17-#22 52 The Many Twists of Single-gene Cardiovascu- Room 119, West #213-#218 Building lar Disorders Building 9 Early Detection: New Approaches to Pre- and Room 109, West #23-#28 53 Friends or Foes? Interactions of Hosts and Room 207, West #219-#224 Perinatal Analyses Building Pathogens Building 10 Advances in Characterizing the Genetic Basis Room 119, West #29-#34 54 Novel Methods for Analyzing GWAS and Room 211, West #225-#230 of Autism Building Sequencing Data Building 11 New Discoveries in Skeletal Disorders and Room 207, West #35-#40 55 From Gene Discovery to Mechanism in Room 221, West #231-#236 Syndromic Abnormalities Building
    [Show full text]
  • Investigating the Causal Role of MRE11A P.E506* in Breast and Ovarian Cancer Islam E
    www.nature.com/scientificreports OPEN Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer Islam E. Elkholi1,2, Massimo Di Iorio3,4,5, Somayyeh Fahiminiya6, Suzanna L. Arcand6, HyeRim Han7, Clara Nogué7, Supriya Behl4,8, Nancy Hamel6, Sylvie Giroux9, Manon de Ladurantaye10, Olga Aleynikova11, Walter H. Gotlieb12,13, Jean‑François Côté1,2,14,15, François Rousseau9, Patricia N. Tonin4,6,16, Diane Provencher10,17, Anne‑Marie MesMasson10,15, Mohammad R. Akbari18,19, Barbara Rivera3,5,7* & William D. Foulkes3,4,5,6 The nuclease MRE11A is often included in genetic test panels for hereditary breast and ovarian cancer (HBOC) due to its BRCA1‑related molecular function in the DNA repair pathway. However, whether MRE11A is a true predisposition gene for HBOC is still questionable. We determined to investigate this notion by dissecting the molecular genetics of the c.1516G > T;p.E506* truncating MRE11A variant, that we pinpointed in two unrelated French‑Canadian (FC) HBOC patients. We performed a case–control study for the variant in ~ 2500 breast, ovarian, and endometrial cancer patients from the founder FC population of Quebec. Furthermore, we looked for the presence of second somatic alterations in the MRE11A gene in the tumors of the carriers. In summary, these investigations suggested that the identifed variant is not associated with an increased risk of developing breast or ovarian cancer. We fnally performed a systematic review for all the previously reported MRE11A variants in breast and ovarian cancer. We found that MRE11A germline variants annotated as pathogenic on ClinVar often lacked evidence for such classifcation, hence misleading the clinical management for afected patients.
    [Show full text]
  • Relaxed Selection During a Recent Human Expansion 20 Keywords: Range Expansion, Quebec, Mutation Load, Genetic Drift 21 * Equal Contribution
    Genetics: Early Online, published on November 29, 2017 as 10.1534/genetics.117.300551 1 Relaxed selection during a recent human 2 expansion 3 4 5 Peischl, S.1,2,3*, Dupanloup, I.1,2,4*, Foucal, A.1,2, Jomphe, M.5, Bruat, V.6, Grenier, J.-C.6, Gouy, A. 1,2, 6 Gilbert, K.J. 1,2, Gbeha, E.6, Bosshard, L.1,2, Hip-Ki, E.6, Agbessi,M.6, Hodgkinson, A.6,7, Vézina, H.5, 7 Awadalla, P.6,8, and Excoffier, L.1,2 8 1 9 CMPG, Institute of Ecology an Evolution, University of Berne, 3012 Berne, Switzerland 2 10 Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland 3 11 Interfaculty Bioinformatics Unit, University of Berne, 3012 Berne, Switzerland 12 4 Swiss Integrative Center for Human Health SA, 1700 Fribourg, Switzerland 5 13 Balsac Project, University of Quebec at Chicoutimi, Saguenay, Canada 6 14 Hôpital Ste-Justine, University of Montréal, Montréal, Canada 7 15 Department of Medical and Molecular Genetics, Guy's Hospital, King’s College London, London, UK 8 16 Ontario Institute for Cancer Research, Department of Molecular Genetics, University of Toronto, 17 Toronto Canada 18 19 Running title: Relaxed selection during a recent human expansion 20 Keywords: range expansion, Quebec, mutation load, genetic drift 21 * Equal contribution 22 Correspondence 23 Stephan Peischl & Laurent Excoffier 24 CMPG, Institute of Ecology and Evolution 25 University of Berne 26 Baltzerstrasse 6 27 3012 Berne, Switzerland 28 Email: [email protected] 29 [email protected] Copyright 2017. 30 Abstract 31 Humans have colonized the planet through a series of range expansions, which deeply impacted 32 genetic diversity in newly settled areas and potentially increased the frequency of deleterious mutations 33 on expanding wave fronts.
    [Show full text]
  • Leena Palotie-Peltonen, 1952&Ndash;2010
    European Journal of Human Genetics (2010) 18, 624–625 & 2010 Macmillan Publishers Limited All rights reserved 1018-4813/10 $32.00 www.nature.com/ejhg OBITUARY Leena Palotie-Peltonen, 1952–2010, visionary and role model Gert-Jan van Ommen1 European Journal of Human Genetics (2010) 18, 624–625; doi:10.1038/ejhg.2010.58 PhD and postgraduate networks as a part of Finnish, Nordic, European and transatlantic consortia and centres of excellence. Leena Peltonen started her career in Oulu, did her postdoctoral at Rutgers University, New Jersey, and returned to the National Institute of Public Health in Helsinki, becoming a professor at 39 years in 1991. Her main focus was the ‘Finnish Disease Heritage’, a group of ca. 40 rare recessive diseases including inborn errors of metabolism, collagen disorders, skin and eye diseases, enriched in Finland due to its unusual demographics: small groups of settlers, carrying limited sets of rare mutations, who populated 2000 years ago, as she would say, ‘the edge of the inhabitable world’. She has elucidated the causative genes and mechanisms behind two dozen of these, and assisted with finding the rest. This has allowed proper screening and counselling for those patients and families afflicted with these diseases, but ironically and to her disappointment, her very Finland lacks such a programme as yet. Leena Peltonen was a tireless ambassador of genetic studies in population isolates. Her vision and flamboyance, raising and employ- ing public awareness to the special field named ‘Finnish genetics’, has helped in developing Finland as one of the most advanced places worldwide in human medical genetics.
    [Show full text]
  • CPEG Fellowship Progress Report MANOUSAKI, Despoina CPEG
    CPEG Fellowship Progress Report MANOUSAKI, Despoina CPEG Fellowship Progress Report Manousaki, Despoina Dear CPEG Fellowship Committee, Thank you for your generous support, awarding me with the CPEG Fellowship in 2014.This Fellowship enabled me to continue my Master’s degree in the Department of Human Genetics in McGill University, and to transition to a PhD program in the same Department under the supervision of Dr Brent Richards. Dr Richards has been an amazing mentor to me and a perfect example of a clinician researcher and an academic center professor. Under his mentorship, I was involved in research projects in translational genomics that made impactful changes in clinical care. Thus, my postgraduate training provided me and keeps providing me with the skills to conduct my own future research. This will enable me to launch my career as an independent researcher and clinician in the field of pediatric endocrinology, and to continue working for a better care of our patients. Sincerely, Despoina Manousaki This report summarizes the research work I undertook during the one-year period funded by the CPEG Fellowship. Of note, this funding period started on May 1st 2016 (after an 8-month maternity leave), and ended in December 31st 2017 (interrupted by 8 months of a second maternity leave between January 1st 2017 and August 31st 2017). The primary focus of my research work during this year was the project summarized below, which is also the main axis of my PhD Thesis: PROJECT TITLE: The Role of Rare and Low-Frequency Genetic Variation in Vitamin D status Overview: The research proposal of the CPEG 2014 Fellowship application summarizes the rationale of this research project.
    [Show full text]