Sardinia as a model popula/on

Size: px
Start display at page:

Download "Sardinia as a model popula/on"

Transcription

1 Sardinia as a model popula/on Francesco Cucca francesco.cucca@irgb.cnr.it Institute for Genetic and Biomedical Research (IRGB), Italian National Research Council (CNR). Medical Genetics, University of Sassari. SardiNIA/progeNIA Università di Sassari

2 Why genetic studies in Sardinia?

3 Neighbour-joining tree of different European populations using the genetic distances computed from the distribution of the Y chromosome SNPs haplotypes CROATIA UKRAINE SARDINIA HUNGARY POLAND CATALONIA BASQUE COUNTRY GEORGIA ANDALUSIA CORSICA NORTH-CENTRAL ITALY ALBANIA GREECE LEBANON TURKEY SICILY CALABRIA

4 MOROCCO Y chromosome variation in Europe SAAMI UDMURT MARI CZECH AND SLOVAKIAN DUTCH UKRAINIAN FRENCH POLISH CROATIAN HUNGARIAN GEORGIAN CENTRAL-NORTHERN ITALIAN MACEDONIAN ALBANIAN SPANISH BASQUES CALABRIAN TURKISH SYRIAN ANDALUSIAN GREEK LEBANESE

5 H.n. 22 DE A1b1b2b E1a E1b1b1a1 E1b1b1b2 E1b1b1b1 F3 G2a2b 33 (AB)T 200 CT G2a3 I1a3a2 I2c I2a2a I2a1b I2a1a I2a1a I2a1a I2a1a J1c J2b J2a T L Q1a3c R2a1 R1a1a1 R1b1c R1b1a2 SNPs %

6 By courtesy of G. Manca

7 By courtesy of G. Manca

8 The Sardinian sequencing project

9 The Sardinian DNA sequencing project Why: 1)To correct for the initial circular ascertainment bias due to the indirect mapping approach 2) To incorporate into one experimental step both the initial detection and the so called fine mapping stages

10 Why in Sardinia? Size of the population at the foundation and during its history large enough to maintain high interindividual variability Lack of substantial population sub-structure, due to lack of large scale genetic flow from outside populations. Excellent depiction of genetic variation in Europe. Unique distribution of alleles at multiple loci due to founder effects

11 Milestones in 2 years: More samples, more SNPs Confirmed sites in dbsnp 132 Novel sites

12 FREQUENCY DISTRIBUTION OF THE DETECTED VARIANTS #Variants (Millions) MAF 0-0.5% 0.5-1% 1-5% 5-10% 10-50%

13 Satura/on, log scale FracKon of variants Data freeze 505 ID Data freeze 1123ID

14 Imputa/on quality on Sardinians Reference panel (sample size) 1000G Europeans (381) Sardinians (347) Sardinians (831) Sardinians (1488) Imputa/on accuracy (r 2 ) MAF 1-3% MAF 3-5% MAF >5%

15 Milestones in 2 years: More samples, less errors Heterozygous mismatch rate between sequence and Metabochip

16 Disegno Sperimentale Low Pass (~4x) sequencing, last data freeze: N=2,120 circa 3000 DNA Low- coverage Experimental design Sardinian Reference panel Array Data in all samples N. ~6,500 SardiNIA cohort N. ~10,000 MS, T1D, controls IMPUTATION Associa/on tes/ng 1000 Genomes

17 How to apply this information?

18 QuanKtaKve trait QualitaKve trait

19 Key ingredients 1) Deep analysis of the genetic information, capitalizing on the unique genetic features of the population 2) Careful selection of phenotypes (diseases and traits) in statistically well powered sample sets

20 Quan/ta/ve trait analysis

21 ProgeNIA Arzana Elini Ilbono Lanusei 21

22 Ra/onale Focus on geographically clustered towns to permit extensive phenotyping with enough power to find associations with traits (mainly quantitative). The structure of the project facilitates repeated visits (longitudinal studies), allows precise measures of heritability and simplifies imputation strategies.

23 The SardiNIA/ProgeNIA project ü It began in 2001, funded by the USA NIH/NIA ~7,000 volunteers, grouped in ~700 families. recruited from a cluster of 4 towns in the Ogliastra region Mainly focused on quantitative traits Longitudinal study repeated (and new) measurements every ~3 years

24 Enrollment, data collection Medical examination: Anthropometric measurements Height Weight Hip Waist BMI Cardiovascular Profile Blood pressure mesuared arms; lower legs; ankle Brachial Pressure Index Electrocardiogram Holter Monitor (24h) Echocardiogram

25 Enrollment, data collection Cardiovascular Profile Pulse Wave Velocity (PWV) SphygmoCor CP Central Blood Pressure Assessment and Management System Carotid Ultrasound

26 Enrollment, data collection Assessment of frailty Performance-based Assessments of Lower extremity Function walking speed in a four meter test Muscle strength testing by hand Grip strength A lower leg PQCT scan

27 ü Anthropometric Measurements Height, Weight, Hip, Waist, BMI ü Blood Chemistry and hematological parameters LDL, HDL, TG, Insulin, RBC, MCH, MCV, HbF, HbA2, Hb etc. ü Cardiovascular Traits quanktakve traits ü Bone mineral density and physical tests HR, SBP, DBP, PP, PWV, IMT, etc ü Personality Facets Neuroticism, Extraversion, Openess, Agreeableness, Coscientiousness, etc. ü Cytokines and pro-inflammatory molecules MCP-1, hscrp, IL-6, V-CAM, AGE etc. ü New traits under analysis: immuno-phenotypes (24)

28

29 A significant finding: LDL loci Immuno+MetaboChip Immuno+MetaboChip + sequence Also By GWAS, PCSK9 Also By GWAS, APOE Also By GWAS, LDLR Also By GWAS, SORT1 - log(p- value) Also By GWAS, APOB

30 A locus detected only by sequencing Immuno+MetaboChip Immuno+MetaboChip + sequence Only By Sequencing, HBB - log(p- value)

31 Hemoglobin- β Q39X variant Responsible for β0-thalassemia in homozygotes Protects against malaria in heterozygotes Rare in Europe, outside Sardinia Higher frequency in Sardinia (MAF ~5%) due to balancing seleckon effect against malaria Lowers LDL in heterozygotes (Maioli et al, 1989)

32 Q39X signal on is hard to detect using other approaches Affymetrix genotypes GWAS and HapMap, 1000G ImputaKon: No Signal Metabochip genotypes: Looks like a false posi/ve Singleton in 1000G and NHLBI ESP: Hard to impute Immuno+Metabochip + Sardinia panel: associa/on 4x10-18 with many surrounding SNPs Affymetrix + Sardinia Panel: associakon 2x10-8 with some surrounding SNPs True p- value aber genotyping ~10-23

33 The Immune system project analysis based on frac/ona/on of Immune cell subtypes by FACS: Current status report

34 Why assessing immune traits and disease?

35 Important features of the immune system have been discovered but there is still a large gap in understanding how the immune system functions and malfunction This lack of knowledge affects current therapies for many autoimmune diseases

36 Gaps in knowledge: Thus far the information about how the immune system is regulated derives largely from work in rodents, which cannot always be translated to humans. Genome-wide association scans (GWAS) have led to advances in the understanding of a number of complex immune-related diseases, but this information is still very partial and difficult to interpret mechanistically. Only some variants associated with quantitative variation of broadly classified cell populations and molecules have been identified, whereas very little is known about the genetic control of the levels of particular subsets of cells.

37 What have we measured so far? We measured 95 cells types, and considered absolute cell counts, but also percentage respect to parental and grandparental lineages. A total of 272 quantitative traits were available for analyses, broadly divided in the following classes: 87 General leukocyte sub-populations (B and T cells, Natural Killer, Monocytes and so on) 35 T-regulatory cells 19 Dendritic cells 131 T cells maturation stages

38

39 Level of all traits show high heritability Broad H2 Mean (Min-Max) Narrow H2 Mean (Min-Max) Treg 0.68 ( ) 0.45 ( ) DC 0.59 ( ) 0.37 ( ) MT 0.57 ( ) 0.35 ( ) TBNK 0.57 ( ) 0.36 ( ) ALL 0.62 ( ) 0.40 ( )

40 Heritability 40 16/03/2012 CNR

41 For each immune trait Disegno Sperimentale GWAS Affy+HapMap 1,403 individuals/~2.2 M markers GWAS I-Chip+M-Chip+sequence 1,628 individuals/~8.2 M markers Selection of independent lead SNPs Check overlaps with common autoimmune diseases (r2 >0.5) GWAS Catalogues Our own MS association data (~3,000 cases/~4,000 controls) List of lead SNPs-trait pair Create candidate gene list genes +/- 25Kb from lead SNP genes of csnps in LD with lead SNP genes affected by eqtls in LD with the lead SNP genes +/-100Kb involved in immune-related diseases (OMIM) Uniss CNR

42 GWAS - 53 associated loci Affy+HapMap Immunochip+Metabochip Sequencing 42 16/03/2012 CNR

43

44 Are the same DNA variants associated with these quantitative traits also associated with immune-related diseases?

45 Disease (GW significant) FACS GW significant Loci Traits (Indep) Celiac Disease 2 3 (1) Chronic kidney disease 1 3 (1) Chronic lymphocytic leukemia 1 2 (1) Hodgkin's lymphoma 1 8 (2) Multiple sclerosis 1 1 (1) Parkinson's disease 1 2 (1) Progressive supranuclear palsy 1 6 (2) Rheumatoid arthritis 2 7 (3) Systemic sclerosis 1 4 (2) Type 1 diabetes 2 9 (2) Ulcerative colitis 1 2 (1) Independent loci associated with diseases 5 Sample size: ~ 1600 individuals

46 @IL2RA gene association with CD25 cells Dendrou et al. studied the top T1D SNP rs (r2=0.77 with our top SNP) Uniss CNR

47 Associa/on in the SH2B3 gene region on chromosome 12q24 with the level of CD3+ posi/ve cells and other related traits Uniss CNR

48 To extend and better assess the association with immune related diseases: the Sardinian MS autoimmunity project Uniss CNR

49 Very low (< 30) Uniss Low (30-80) High (> 80) CNR Multiple Sclerosis prevalence (x 100,000) in various world-wide countries

50 Multiple Sclerosis prevalence in Europe and in some Mediterranean countries High risk Moderate risk Low risk 47 Pugliatti et al (EBC), Eur J Neurol Uniss CNR

51 T1D incidence (at age 0-14yrs x 100,000) in various world-wide countries High (> 20) Moderate (10-19) Low (5-9) Very low (< 4) Uniss CNR

52 T1D incidence in Europe and In some Mediterranean countries (at age 0-14yrs)* High risk Moderate risk Low risk *Adapted from EURODIAB Uniss CNR

53 THE AUTOIMMUNITY PROJECT ~3,500 healthy controls, recruited from all over the Island from the main transfusion blood centers Cases from mulkfactorial traits collected from hospitals and University clinics from all over the Island. Specifically: ~ 3,000 MulKple Sclerosis cases ~ 2,000 Type 1 Diabetes cases

54

55 CBLB gene: results using imputa/on from Sardinian sequencing

56 Immune cell phenotypes preliminary results Quantitative traits, represented by the levels of most of the immune cell populations, exhibit substantial heritability In a preliminary GWAS analysis we found a large number of genetic associations with these quantitative traits Some of these variants coincide with previously and newly detected MS and other autoimmune diseases associations, providing mechanistic clues for them

57 Conclusions: Excellent coverage of variation present in Europe The founder population augments the signal from gene variants rare elsewhere Found variants/genes are also important in other populations.

58 The SardiNIA/ProgeNIA Team Mariano Dei Sandra Lai Antonella Mulas Edoardo Fiorillo Valeria Orrù Magdalena Zoledziweska Maria Grazia Piras Monia Lobina Francesca Virdis Michele Marongiu Marco Masala Manuela Uda Serena Sanna Laura Crisponi Silvia Naitza Maria Grazia Pilia Liana Ferreli Francesco Loi Nicola Curreli Elen Balalci Stefano Loi Alessandro Deliatala Marco Orru Monica Lai Anna Cau Paola Loi Susanna Murino Lina Brundu Founded by Giuseppe Pilia and David Schlessinger with the constant support of Antonio Cao

59 Data and sample acquisition (patients) Marisa Marrosu Giulio Rosati Maurizio Melis Stephen Sawcer Jan Hillert Data and Sample Acquisition (controls) Maristella Piztalis Magdalena Zoledziweska Alessia Loi Sonia Sanna Roberta Piras Nazario Olla Mario Loviccu Fausto Poddie Data Base GianMauro Cuccuru Gianluigi Zanetti Luca Lianas Ilenia Zara

60 Statistical Team (Cagliari/Pula): Serena Sanna Carlo Sidore Maristella Steri Gabriella Sole Eleonora Porcu Giorgio Pistis Fabrice Danjou Maria Valentini Ilenia Zara Mauro Pala Sequencing team (Pula): Chris Jones Frederic Reinier Riccardo Berutti Rossano Atzeni Lidia Leoni Gianluigi Zanetti Marco Orrù Andrea Angius Fabio Busonero Roberto Cusano Francesca Urru Marco Marcelli Manuela Oppo Rosella Pilu Immunogenetics lab (Pula): Maristella Pitzalis Magdalena Zoledziewska Francesca Deidda

61 Laura Crisponi Silvia Naitza Mara Marongiu Manuela Uda Paolo Moi Giusi Marini Angela Loi Francesca Crobu Loredana Porcu Susanna Porcu Wieslawa Mentzen Francesca Manchinu Maria Franca Marongiu Francesca Anedda Sonia Sanna Alessia Loi Michael Whalen Mauro Congia Matteo Floris Stefania Olla Silvana Urru Uniss CNR

62 Acknowledgements: David Schlessinger Goncalo Abecasis Giuseppe Pilia John Todd Paolo Zanella Uniss CNR

63 To the memory of Prof.Antonio Cao Father of modern pediatrics and geneics in Sardinia

64

How To Find Rare Variants In The Human Genome

How To Find Rare Variants In The Human Genome UNIVERSITÀ DEGLI STUDI DI SASSARI Scuola di Dottorato in Scienze Biomediche XXV CICLO DOTTORATO DI RICERCA IN SCIENZE BIOMEDICHE INDIRIZZO DI GENETICA MEDICA, MALATTIE METABOLICHE E NUTRIGENOMICA Direttore:

More information

Combining Data from Different Genotyping Platforms. Gonçalo Abecasis Center for Statistical Genetics University of Michigan

Combining Data from Different Genotyping Platforms. Gonçalo Abecasis Center for Statistical Genetics University of Michigan Combining Data from Different Genotyping Platforms Gonçalo Abecasis Center for Statistical Genetics University of Michigan The Challenge Detecting small effects requires very large sample sizes Combined

More information

Globally, about 9.7% of cancers in men are prostate cancers, and the risk of developing the

Globally, about 9.7% of cancers in men are prostate cancers, and the risk of developing the Chapter 5 Analysis of Prostate Cancer Association Study Data 5.1 Risk factors for Prostate Cancer Globally, about 9.7% of cancers in men are prostate cancers, and the risk of developing the disease has

More information

pyehr: a scalable clinical data management toolkit for biomedical research projects

pyehr: a scalable clinical data management toolkit for biomedical research projects pyehr: a scalable clinical data management toolkit for biomedical research projects Luca Lianas, Francesca Frexia, Giovanni Delussu, Paolo Anedda, Gianluigi Zanetti CRS4 Pula, CA, Italy firstname.lastname@crs4.it

More information

Genetics of Rheumatoid Arthritis Markey Lecture Series

Genetics of Rheumatoid Arthritis Markey Lecture Series Genetics of Rheumatoid Arthritis Markey Lecture Series Al Kim akim@dom.wustl.edu 2012.09.06 Overview of Rheumatoid Arthritis Rheumatoid Arthritis (RA) Autoimmune disease primarily targeting the synovium

More information

UNIVERSITÀ DEGLI STUDI DI SASSARI

UNIVERSITÀ DEGLI STUDI DI SASSARI UNIVERSITÀ DEGLI STUDI DI SASSARI Scuola di Dottorato in Scienze Biomediche Direttore: Prof. Andrea Piana XXVII CICLO DOTTORATO DI RICERCA IN SCIENZE BIOMEDICHE INDIRIZZO IN GENETICA MEDICA, MALATTIE METABOLICHE

More information

SNPbrowser Software v3.5

SNPbrowser Software v3.5 Product Bulletin SNP Genotyping SNPbrowser Software v3.5 A Free Software Tool for the Knowledge-Driven Selection of SNP Genotyping Assays Easily visualize SNPs integrated with a physical map, linkage disequilibrium

More information

Heritability: Twin Studies. Twin studies are often used to assess genetic effects on variation in a trait

Heritability: Twin Studies. Twin studies are often used to assess genetic effects on variation in a trait TWINS AND GENETICS TWINS Heritability: Twin Studies Twin studies are often used to assess genetic effects on variation in a trait Comparing MZ/DZ twins can give evidence for genetic and/or environmental

More information

NGS and complex genetics

NGS and complex genetics NGS and complex genetics Robert Kraaij Genetic Laboratory Department of Internal Medicine r.kraaij@erasmusmc.nl Gene Hunting Rotterdam Study and GWAS Next Generation Sequencing Gene Hunting Mendelian gene

More information

GAW 15 Problem 3: Simulated Rheumatoid Arthritis Data Full Model and Simulation Parameters

GAW 15 Problem 3: Simulated Rheumatoid Arthritis Data Full Model and Simulation Parameters GAW 15 Problem 3: Simulated Rheumatoid Arthritis Data Full Model and Simulation Parameters Michael B Miller , Michael Li , Gregg Lind , Soon-Young

More information

SeattleSNPs Interactive Tutorial: Web Tools for Site Selection, Linkage Disequilibrium and Haplotype Analysis

SeattleSNPs Interactive Tutorial: Web Tools for Site Selection, Linkage Disequilibrium and Haplotype Analysis SeattleSNPs Interactive Tutorial: Web Tools for Site Selection, Linkage Disequilibrium and Haplotype Analysis Goal: This tutorial introduces several websites and tools useful for determining linkage disequilibrium

More information

UKB_WCSGAX: UK Biobank 500K Samples Genotyping Data Generation by the Affymetrix Research Services Laboratory. April, 2015

UKB_WCSGAX: UK Biobank 500K Samples Genotyping Data Generation by the Affymetrix Research Services Laboratory. April, 2015 UKB_WCSGAX: UK Biobank 500K Samples Genotyping Data Generation by the Affymetrix Research Services Laboratory April, 2015 1 Contents Overview... 3 Rare Variants... 3 Observation... 3 Approach... 3 ApoE

More information

C-Reactive Protein and Diabetes: proving a negative, for a change?

C-Reactive Protein and Diabetes: proving a negative, for a change? C-Reactive Protein and Diabetes: proving a negative, for a change? Eric Brunner PhD FFPH Reader in Epidemiology and Public Health MRC Centre for Causal Analyses in Translational Epidemiology 2 March 2009

More information

School of Nursing. Presented by Yvette Conley, PhD

School of Nursing. Presented by Yvette Conley, PhD Presented by Yvette Conley, PhD What we will cover during this webcast: Briefly discuss the approaches introduced in the paper: Genome Sequencing Genome Wide Association Studies Epigenomics Gene Expression

More information

Autoimmunity and immunemediated. FOCiS. Lecture outline

Autoimmunity and immunemediated. FOCiS. Lecture outline 1 Autoimmunity and immunemediated inflammatory diseases Abul K. Abbas, MD UCSF FOCiS 2 Lecture outline Pathogenesis of autoimmunity: why selftolerance fails Genetics of autoimmune diseases Therapeutic

More information

Factors for success in big data science

Factors for success in big data science Factors for success in big data science Damjan Vukcevic Data Science Murdoch Childrens Research Institute 16 October 2014 Big Data Reading Group (Department of Mathematics & Statistics, University of Melbourne)

More information

A map of human genome variation from population-scale sequencing

A map of human genome variation from population-scale sequencing doi:1.138/nature9534 A map of human genome variation from population-scale sequencing The 1 Genomes Project Consortium* The 1 Genomes Project aims to provide a deep characterization of human genome sequence

More information

A Multi-locus Genetic Risk Score for Abdominal Aortic Aneurysm

A Multi-locus Genetic Risk Score for Abdominal Aortic Aneurysm A Multi-locus Genetic Risk Score for Abdominal Aortic Aneurysm Zi Ye, 1 MD, Erin Austin, 1,2 PhD, Daniel J Schaid, 2 PhD, Iftikhar J. Kullo, 1 MD Affiliations: 1 Division of Cardiovascular Diseases and

More information

SNP Essentials The same SNP story

SNP Essentials The same SNP story HOW SNPS HELP RESEARCHERS FIND THE GENETIC CAUSES OF DISEASE SNP Essentials One of the findings of the Human Genome Project is that the DNA of any two people, all 3.1 billion molecules of it, is more than

More information

PUBBLICAZIONI 2015 PUBBLICAZIONI 2014

PUBBLICAZIONI 2015 PUBBLICAZIONI 2014 Classificazione delle pubblicazioni: = Biomarker discovery SD = Sistemi diagnostici = Food Technology PUBBLICAZIONI 2015 Distinctive Anthocyanin Accumulation Responses to High Temperatures and Natural

More information

Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs)

Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Single nucleotide polymorphisms or SNPs (pronounced "snips") are DNA sequence variations that occur

More information

Genomes and SNPs in Malaria and Sickle Cell Anemia

Genomes and SNPs in Malaria and Sickle Cell Anemia Genomes and SNPs in Malaria and Sickle Cell Anemia Introduction to Genome Browsing with Ensembl Ensembl The vast amount of information in biological databases today demands a way of organising and accessing

More information

Chromosomes, Mapping, and the Meiosis Inheritance Connection

Chromosomes, Mapping, and the Meiosis Inheritance Connection Chromosomes, Mapping, and the Meiosis Inheritance Connection Carl Correns 1900 Chapter 13 First suggests central role for chromosomes Rediscovery of Mendel s work Walter Sutton 1902 Chromosomal theory

More information

Workshop on Establishing a Central Resource of Data from Genome Sequencing Projects

Workshop on Establishing a Central Resource of Data from Genome Sequencing Projects Report on the Workshop on Establishing a Central Resource of Data from Genome Sequencing Projects Background and Goals of the Workshop June 5 6, 2012 The use of genome sequencing in human research is growing

More information

GENETIC STUDIES OF AUTOIMMUNE DISEASES. Benedicte Alexandre Lie Institute of Immunology Rikshospitalet University Hospital

GENETIC STUDIES OF AUTOIMMUNE DISEASES. Benedicte Alexandre Lie Institute of Immunology Rikshospitalet University Hospital GENETIC STUDIES OF AUTOIMMUNE DISEASES Benedicte Alexandre Lie Institute of Immunology Rikshospitalet University Hospital Autoimmune diseases Affects approximately 5 % of the population Results from an

More information

Replacing TaqMan SNP Genotyping Assays that Fail Applied Biosystems Manufacturing Quality Control. Begin

Replacing TaqMan SNP Genotyping Assays that Fail Applied Biosystems Manufacturing Quality Control. Begin User Bulletin TaqMan SNP Genotyping Assays May 2008 SUBJECT: Replacing TaqMan SNP Genotyping Assays that Fail Applied Biosystems Manufacturing Quality Control In This Bulletin Overview This user bulletin

More information

Discovery and Quantification of RNA with RNASeq Roderic Guigó Serra Centre de Regulació Genòmica (CRG) roderic.guigo@crg.cat

Discovery and Quantification of RNA with RNASeq Roderic Guigó Serra Centre de Regulació Genòmica (CRG) roderic.guigo@crg.cat Bioinformatique et Séquençage Haut Débit, Discovery and Quantification of RNA with RNASeq Roderic Guigó Serra Centre de Regulació Genòmica (CRG) roderic.guigo@crg.cat 1 RNA Transcription to RNA and subsequent

More information

The Functional but not Nonfunctional LILRA3 Contributes to Sex Bias in Susceptibility and Severity of ACPA-Positive Rheumatoid Arthritis

The Functional but not Nonfunctional LILRA3 Contributes to Sex Bias in Susceptibility and Severity of ACPA-Positive Rheumatoid Arthritis The Functional but not Nonfunctional LILRA3 Contributes to Sex Bias in Susceptibility and Severity of ACPA-Positive Rheumatoid Arthritis Yan Du Peking University People s Hospital 100044 Beijing CHINA

More information

Basics of Marker Assisted Selection

Basics of Marker Assisted Selection asics of Marker ssisted Selection Chapter 15 asics of Marker ssisted Selection Julius van der Werf, Department of nimal Science rian Kinghorn, Twynam Chair of nimal reeding Technologies University of New

More information

Major US Genomic Medicine Programs: NHGRI s Electronic Medical Records and Genomics (emerge) Network

Major US Genomic Medicine Programs: NHGRI s Electronic Medical Records and Genomics (emerge) Network Major US Genomic Medicine Programs: NHGRI s Electronic Medical Records and Genomics (emerge) Network Dan Roden Member, National Advisory Council For Human Genome Research Genomic Medicine Working Group

More information

Core Facility Genomics

Core Facility Genomics Core Facility Genomics versatile genome or transcriptome analyses based on quantifiable highthroughput data ascertainment 1 Topics Collaboration with Harald Binder and Clemens Kreutz Project: Microarray

More information

Normal and Abnormal Aging and the Brain. Joel Kramer, PsyD Saul Villeda, PhD Kristine Yaffe, MD

Normal and Abnormal Aging and the Brain. Joel Kramer, PsyD Saul Villeda, PhD Kristine Yaffe, MD Normal and Abnormal Aging and the Brain Joel Kramer, PsyD Saul Villeda, PhD Kristine Yaffe, MD The myth of cognitive decline The myth of cognitive decline Individual change varies Individual change varies

More information

Epigenetic variation and complex disease risk

Epigenetic variation and complex disease risk Epigenetic variation and complex disease risk Caroline Relton Institute of Human Genetics Newcastle University ALSPAC Research Symposium 2 & 3 March 2009 Missing heritability Even when dozens of genes

More information

EHRs and large scale comparative effectiveness research

EHRs and large scale comparative effectiveness research EHRs and large scale comparative effectiveness research September 16, 2014 Dana C. Crawford, PhD Associate Professor Epidemiology and Biostatistics Institute for Computational Biology Single Nucleotide

More information

Technical Issues in Aggregating and Analyzing Data from Heterogeneous EHR Systems

Technical Issues in Aggregating and Analyzing Data from Heterogeneous EHR Systems Technical Issues in Aggregating and Analyzing Data from Heterogeneous EHR Systems Josh Denny, MD, MS josh.denny@vanderbilt.edu Vanderbilt University, Nashville, Tennessee, USA 2/12/2015 EHR data are dense

More information

Big Data for Population Health

Big Data for Population Health Big Data for Population Health Prof Martin Landray Nuffield Department of Population Health Deputy Director, Big Data Institute, Li Ka Shing Centre for Health Information and Discovery University of Oxford

More information

Potentials for EHR Phenotyping in SJS/TEN

Potentials for EHR Phenotyping in SJS/TEN Potentials for EHR Phenotyping in SJS/TEN Josh Denny, MD, MS josh.denny@vanderbilt.edu Vanderbilt University, Nashville, Tennessee, USA 3/3/2015 emerge goals To perform GWAS using EMR-derived phenotypes

More information

Introductory genetics for veterinary students

Introductory genetics for veterinary students Introductory genetics for veterinary students Michel Georges Introduction 1 References Genetics Analysis of Genes and Genomes 7 th edition. Hartl & Jones Molecular Biology of the Cell 5 th edition. Alberts

More information

Electronic Medical Records and Genomics: Possibilities, Realities, Ethical Issues to Consider

Electronic Medical Records and Genomics: Possibilities, Realities, Ethical Issues to Consider Electronic Medical Records and Genomics: Possibilities, Realities, Ethical Issues to Consider Daniel Masys, M.D. Affiliate Professor Biomedical and Health Informatics University of Washington, Seattle

More information

SAP HANA Enabling Genome Analysis

SAP HANA Enabling Genome Analysis SAP HANA Enabling Genome Analysis Joanna L. Kelley, PhD Postdoctoral Scholar, Stanford University Enakshi Singh, MSc HANA Product Management, SAP Labs LLC Outline Use cases Genomics review Challenges in

More information

Next Generation Sequencing: Technology, Mapping, and Analysis

Next Generation Sequencing: Technology, Mapping, and Analysis Next Generation Sequencing: Technology, Mapping, and Analysis Gary Benson Computer Science, Biology, Bioinformatics Boston University gbenson@bu.edu http://tandem.bu.edu/ The Human Genome Project took

More information

HLA-Cw*0602 associates with a twofold higher prevalence. of positive streptococcal throat swab at the onset of

HLA-Cw*0602 associates with a twofold higher prevalence. of positive streptococcal throat swab at the onset of 1 HLA-Cw*0602 associates with a twofold higher prevalence of positive streptococcal throat swab at the onset of psoriasis: a case control study Lotus Mallbris, MD, PhD, Katarina Wolk, MD, Fabio Sánchez

More information

Table 1: TSQM Version 1.4 Available Translations

Table 1: TSQM Version 1.4 Available Translations Quintiles, Inc. 1 Tables 1, 2, & 3 below list the existing and available translations for the TSQM v1.4, TSQM vii, TSQM v9. If Quintiles does not have a translation that your Company needs, the Company

More information

Genetics Lecture Notes 7.03 2005. Lectures 1 2

Genetics Lecture Notes 7.03 2005. Lectures 1 2 Genetics Lecture Notes 7.03 2005 Lectures 1 2 Lecture 1 We will begin this course with the question: What is a gene? This question will take us four lectures to answer because there are actually several

More information

Collaborative Association Study of Psoriasis. Gonçalo Abecasis, Anne Bowcock, James Elder, Jerry Krueger

Collaborative Association Study of Psoriasis. Gonçalo Abecasis, Anne Bowcock, James Elder, Jerry Krueger Collaborative Association Study of Psoriasis Gonçalo Abecasis, Anne Bowcock, James Elder, Jerry Krueger Psoriasis Chronic, inflammatory skin condition Characteristic lesions, can affect substantial proportion

More information

Focusing on results not data comprehensive data analysis for targeted next generation sequencing

Focusing on results not data comprehensive data analysis for targeted next generation sequencing Focusing on results not data comprehensive data analysis for targeted next generation sequencing Daniel Swan, Jolyon Holdstock, Angela Matchan, Richard Stark, John Shovelton, Duarte Mohla and Simon Hughes

More information

DNA Copy Number and Loss of Heterozygosity Analysis Algorithms

DNA Copy Number and Loss of Heterozygosity Analysis Algorithms DNA Copy Number and Loss of Heterozygosity Analysis Algorithms Detection of copy-number variants and chromosomal aberrations in GenomeStudio software. Introduction Illumina has developed several algorithms

More information

c u r r i c u l u m v i t a e

c u r r i c u l u m v i t a e c u r r i c u l u m v i t a e Personal information Name Address Marco Salvetti, MD and Centre for Experimental Neurological Therapies, University-S. Andrea Hospital, 1035 via di Grottarossa, 00189-, ITALY

More information

PhD SCHOOLS AND PhD COURSES UNIVERSITY OF CAGLIARI XXVI CYCLE ACADEMIC YEAR 2010/2011

PhD SCHOOLS AND PhD COURSES UNIVERSITY OF CAGLIARI XXVI CYCLE ACADEMIC YEAR 2010/2011 PhD SCHOOLS AND PhD COURSES UNIVERSITY OF CAGLIARI XXVI CYCLE ACADEMIC YEAR 2010/2011 PhD school in MATHEMATIC AND INFORMATIC SCIENCES Director: Prof. Marco Gaviano Website: http://phdmi.sc.unica.it/ PhD

More information

Logistic Regression (1/24/13)

Logistic Regression (1/24/13) STA63/CBB540: Statistical methods in computational biology Logistic Regression (/24/3) Lecturer: Barbara Engelhardt Scribe: Dinesh Manandhar Introduction Logistic regression is model for regression used

More information

Chapter 9 Patterns of Inheritance

Chapter 9 Patterns of Inheritance Bio 100 Patterns of Inheritance 1 Chapter 9 Patterns of Inheritance Modern genetics began with Gregor Mendel s quantitative experiments with pea plants History of Heredity Blending theory of heredity -

More information

A Genetic Analysis of Rheumatoid Arthritis

A Genetic Analysis of Rheumatoid Arthritis A Genetic Analysis of Rheumatoid Arthritis Introduction to Rheumatoid Arthritis: Classification and Diagnosis Rheumatoid arthritis is a chronic inflammatory disorder that affects mainly synovial joints.

More information

Summary and conclusions. Chapter 8. Summary and conclusions

Summary and conclusions. Chapter 8. Summary and conclusions Summary and conclusions Chapter 8 Summary and conclusions 153 Chapter 8 154 Summary and conclusions Summary This thesis describes an experimental study in healthy MZ and same-sex DZ twins and siblings

More information

The Human Genome. Genetics and Personality. The Human Genome. The Human Genome 2/19/2009. Chapter 6. Controversy About Genes and Personality

The Human Genome. Genetics and Personality. The Human Genome. The Human Genome 2/19/2009. Chapter 6. Controversy About Genes and Personality The Human Genome Chapter 6 Genetics and Personality Genome refers to the complete set of genes that an organism possesses Human genome contains 30,000 80,000 genes on 23 pairs of chromosomes The Human

More information

Genotyping and quality control of UK Biobank, a large- scale, extensively phenotyped prospective resource

Genotyping and quality control of UK Biobank, a large- scale, extensively phenotyped prospective resource Genotyping and quality control of UK Biobank, a large- scale, extensively phenotyped prospective resource Information for researchers Interim Data Release, 2015 1 Introduction... 3 1.1 UK Biobank... 3

More information

Project ideas of University of Udine for Horizon 2020 Health 2014/2015 www.uniud.it

Project ideas of University of Udine for Horizon 2020 Health 2014/2015 www.uniud.it Project ideas of University of Udine for Horizon 2020 Health 2014/2015 www.uniud.it The University of Udine is an Italian Public University founded in 1978 by National Law No. August 8, 1977 546, art.

More information

Varianti genetiche e interazione gene-asbesto nel mesotelioma pleurico

Varianti genetiche e interazione gene-asbesto nel mesotelioma pleurico Varianti genetiche e interazione gene-asbesto nel mesotelioma pleurico Tunesi Sara, Ferrante Daniela, Mirabelli Dario, Andorno Silvano, Betti Marta, Fiorito Giovanni, Guarrera Simonetta, Casalone Elisabetta,

More information

Healthy Aging Lab: Current Research Abstracts

Healthy Aging Lab: Current Research Abstracts Healthy Aging Lab: Current Research Abstracts Arsenic Exposure and Women s Health Environmental exposure to inorganic arsenic is an indisputable source of increased risk of several human cancers and chronic

More information

Chapter 8: Recombinant DNA 2002 by W. H. Freeman and Company Chapter 8: Recombinant DNA 2002 by W. H. Freeman and Company

Chapter 8: Recombinant DNA 2002 by W. H. Freeman and Company Chapter 8: Recombinant DNA 2002 by W. H. Freeman and Company Genetic engineering: humans Gene replacement therapy or gene therapy Many technical and ethical issues implications for gene pool for germ-line gene therapy what traits constitute disease rather than just

More information

Progress and promise in understanding the genetic basis of common diseases

Progress and promise in understanding the genetic basis of common diseases rspb.royalsocietypublishing.org Progress and promise in understanding the genetic basis of common diseases Alkes L. Price 1,2, Chris C. A. Spencer 3 and Peter Donnelly 3,4 Review Cite this article: Price

More information

HISTO TYPE SSP Immunogenetic Diagnostics. Robust and fast - validated Taq Polymerase included

HISTO TYPE SSP Immunogenetic Diagnostics. Robust and fast - validated Taq Polymerase included HISTO TYPE SSP Immunogenetic Diagnostics Robust and fast - validated Taq Polymerase included BAG Health Care the experts for HLA and blood group diagnostics HISTO TYPE SSP Diagnostics Highly standardised

More information

Hardy-Weinberg Equilibrium Problems

Hardy-Weinberg Equilibrium Problems Hardy-Weinberg Equilibrium Problems 1. The frequency of two alleles in a gene pool is 0.19 (A) and 0.81(a). Assume that the population is in Hardy-Weinberg equilibrium. (a) Calculate the percentage of

More information

Population Genetics and Multifactorial Inheritance 2002

Population Genetics and Multifactorial Inheritance 2002 Population Genetics and Multifactorial Inheritance 2002 Consanguinity Genetic drift Founder effect Selection Mutation rate Polymorphism Balanced polymorphism Hardy-Weinberg Equilibrium Hardy-Weinberg Equilibrium

More information

Simplifying Data Interpretation with Nexus Copy Number

Simplifying Data Interpretation with Nexus Copy Number Simplifying Data Interpretation with Nexus Copy Number A WHITE PAPER FROM BIODISCOVERY, INC. Rapid technological advancements, such as high-density acgh and SNP arrays as well as next-generation sequencing

More information

Biomedical Big Data and Precision Medicine

Biomedical Big Data and Precision Medicine Biomedical Big Data and Precision Medicine Jie Yang Department of Mathematics, Statistics, and Computer Science University of Illinois at Chicago October 8, 2015 1 Explosion of Biomedical Data 2 Types

More information

Marker-Assisted Backcrossing. Marker-Assisted Selection. 1. Select donor alleles at markers flanking target gene. Losing the target allele

Marker-Assisted Backcrossing. Marker-Assisted Selection. 1. Select donor alleles at markers flanking target gene. Losing the target allele Marker-Assisted Backcrossing Marker-Assisted Selection CS74 009 Jim Holland Target gene = Recurrent parent allele = Donor parent allele. Select donor allele at markers linked to target gene.. Select recurrent

More information

Single-Cell DNA Sequencing with the C 1. Single-Cell Auto Prep System. Reveal hidden populations and genetic diversity within complex samples

Single-Cell DNA Sequencing with the C 1. Single-Cell Auto Prep System. Reveal hidden populations and genetic diversity within complex samples DATA Sheet Single-Cell DNA Sequencing with the C 1 Single-Cell Auto Prep System Reveal hidden populations and genetic diversity within complex samples Single-cell sensitivity Discover and detect SNPs,

More information

A Public Cord Blood Bank for South Africa? i

A Public Cord Blood Bank for South Africa? i No. 42/2007 A Public Cord Blood Bank for South Africa? i By Dr Robert Crookes MBChB (Wits), Dip. Internal Medicine (American Board of Internal Medicine, USA) Transfusion Medicine Consultant. South African

More information

(1-p) 2. p(1-p) From the table, frequency of DpyUnc = ¼ (p^2) = #DpyUnc = p^2 = 0.0004 ¼(1-p)^2 + ½(1-p)p + ¼(p^2) #Dpy + #DpyUnc

(1-p) 2. p(1-p) From the table, frequency of DpyUnc = ¼ (p^2) = #DpyUnc = p^2 = 0.0004 ¼(1-p)^2 + ½(1-p)p + ¼(p^2) #Dpy + #DpyUnc Advanced genetics Kornfeld problem set_key 1A (5 points) Brenner employed 2-factor and 3-factor crosses with the mutants isolated from his screen, and visually assayed for recombination events between

More information

Novel Rheumatoid Arthritis Susceptibility Locus at 22q12 Identified in an Extended UK Genome-Wide Association Study

Novel Rheumatoid Arthritis Susceptibility Locus at 22q12 Identified in an Extended UK Genome-Wide Association Study ARTHRITIS & RHEUMATOLOGY Vol. 66, No. 1, January 2014, pp 24 30 DOI 10.1002/art.38196 2014 The Authors. Arthritis & Rheumatology is published by Wiley Periodicals, Inc. on behalf of the American College

More information

CCR Biology - Chapter 9 Practice Test - Summer 2012

CCR Biology - Chapter 9 Practice Test - Summer 2012 Name: Class: Date: CCR Biology - Chapter 9 Practice Test - Summer 2012 Multiple Choice Identify the choice that best completes the statement or answers the question. 1. Genetic engineering is possible

More information

Molecular typing of VTEC: from PFGE to NGS-based phylogeny

Molecular typing of VTEC: from PFGE to NGS-based phylogeny Molecular typing of VTEC: from PFGE to NGS-based phylogeny Valeria Michelacci 10th Annual Workshop of the National Reference Laboratories for E. coli in the EU Rome, November 5 th 2015 Molecular typing

More information

INNOVATION IN CNS DRUG DISCOVERY: FROM SMALL MOLECULES TO BIOLOGIC THERAPIES

INNOVATION IN CNS DRUG DISCOVERY: FROM SMALL MOLECULES TO BIOLOGIC THERAPIES INTERNATIONAL PhD PROGRAM IN NEUROPHARMACOLOGY UNIVERSITY OF CATANIA SUMMER SCHOOL OF NEUROSCIENCE (11) Undicesima Scuola Estiva di Neuroscienze (11) UNDER THE AUSPICES OF THE FEDERATION OF EUROPEAN PHARMACOLOGICAL

More information

Additional file 1. Progress of phase II clinical trials of Panagen

Additional file 1. Progress of phase II clinical trials of Panagen Additional file 1. Progress of phase II clinical trials of Panagen Documentation Phase II clinical trial of preparation Panagen was performed in compliance with the following documentation: Approval of

More information

Collect and label sample according to standard protocols. Gently invert tube 8-10 times immediately after draw. DO NOT SHAKE. Do not centrifuge.

Collect and label sample according to standard protocols. Gently invert tube 8-10 times immediately after draw. DO NOT SHAKE. Do not centrifuge. Complete Blood Count CPT Code: CBC with Differential: 85025 CBC without Differential: 85027 Order Code: CBC with Differential: C915 Includes: White blood cell, Red blood cell, Hematocrit, Hemoglobin, MCV,

More information

Tutorial on gplink. http://pngu.mgh.harvard.edu/~purcell/plink/gplink.shtml. PLINK tutorial, December 2006; Shaun Purcell, shaun@pngu.mgh.harvard.

Tutorial on gplink. http://pngu.mgh.harvard.edu/~purcell/plink/gplink.shtml. PLINK tutorial, December 2006; Shaun Purcell, shaun@pngu.mgh.harvard. Tutorial on gplink http://pngu.mgh.harvard.edu/~purcell/plink/gplink.shtml Basic gplink analyses Data management Summary statistics Association analysis Population stratification IBD-based analysis gplink

More information

SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE

SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE AP Biology Date SICKLE CELL ANEMIA & THE HEMOGLOBIN GENE TEACHER S GUIDE LEARNING OBJECTIVES Students will gain an appreciation of the physical effects of sickle cell anemia, its prevalence in the population,

More information

Name: Class: Date: ID: A

Name: Class: Date: ID: A Name: Class: _ Date: _ Meiosis Quiz 1. (1 point) A kidney cell is an example of which type of cell? a. sex cell b. germ cell c. somatic cell d. haploid cell 2. (1 point) How many chromosomes are in a human

More information

Online Supplement to Polygenic Influence on Educational Attainment. Genotyping was conducted with the Illumina HumanOmni1-Quad v1 platform using

Online Supplement to Polygenic Influence on Educational Attainment. Genotyping was conducted with the Illumina HumanOmni1-Quad v1 platform using Online Supplement to Polygenic Influence on Educational Attainment Construction of Polygenic Score for Educational Attainment Genotyping was conducted with the Illumina HumanOmni1-Quad v1 platform using

More information

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers.

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. Irene Catucci 1,2,12, Paolo Verderio 3,12, Sara Pizzamiglio 3,12, Siranoush Manoukian 4, Bernard Peissel 4, Daniela Zaffaroni

More information

UNIVERSITÀ DEGLI STUDI DI SASSARI

UNIVERSITÀ DEGLI STUDI DI SASSARI UNIVERSITÀ DEGLI STUDI DI SASSARI Scuola di Dottorato in Scienze Biomediche Direttore: Prof. Andrea Piana XXVII CICLO DOTTORATO DI RICERCA IN SCIENZE BIOMEDICHE INDIRIZZO IN GENETICA MEDICA, MALATTIE METABOLICHE

More information

Integration of genomic data into electronic health records

Integration of genomic data into electronic health records Integration of genomic data into electronic health records Daniel Masys, MD Affiliate Professor Biomedical & Health Informatics University of Washington, Seattle Major portion of today s lecture is based

More information

dixa a data infrastructure for chemical safety Jos Kleinjans Dept of Toxicogenomics Maastricht University

dixa a data infrastructure for chemical safety Jos Kleinjans Dept of Toxicogenomics Maastricht University dixa a data infrastructure for chemical safety Jos Kleinjans Dept of Toxicogenomics Maastricht University Current protocol for chemical safety testing Short Term Tests for Genetic Toxicity Bacterial Reverse

More information

UNIVERSITÀ DEGLI STUDI DI CAGLIARI FACOLTÀ DI MEDICINA E CHIRURGIA Dipartimento di Scienze Biomediche e Biotecnologiche

UNIVERSITÀ DEGLI STUDI DI CAGLIARI FACOLTÀ DI MEDICINA E CHIRURGIA Dipartimento di Scienze Biomediche e Biotecnologiche UNIVERSITÀ DEGLI STUDI DI CAGLIARI FACOLTÀ DI MEDICINA E CHIRURGIA Dipartimento di Scienze Biomediche e Biotecnologiche Dottorato di Ricerca in Terapia pediatrica e Farmacologia dello Sviluppo ( XXIII

More information

Potential Coeliac Disease. The Italian Baby-Study on Weaning and CD Risk. 15m 24m 36m Tot. 15m 24m 36m Tot. in a Large Cohort of at-risk Infants:

Potential Coeliac Disease. The Italian Baby-Study on Weaning and CD Risk. 15m 24m 36m Tot. 15m 24m 36m Tot. in a Large Cohort of at-risk Infants: Potential Coeliac Disease in a Large Cohort of at-risk Infants: The Italian Baby-Study on Weaning and Risk Veronica Albano Elena Lionetti, Carlo Catassi and The Italian Working Group on Weaning and Celiac

More information

CREA International company profile & project credentials

CREA International company profile & project credentials CREA International company profile & project credentials CREA International CREA International is an italian retail service design company which works with a team of professionals from different cultures

More information

Sample Reproducibility of Genetic Association Using Different Multimarker TDTs in Genome-Wide Association Studies: Characterization and a New Approach

Sample Reproducibility of Genetic Association Using Different Multimarker TDTs in Genome-Wide Association Studies: Characterization and a New Approach Sample Reproducibility of Genetic Association Using Different Multimarker TDTs in Genome-Wide Association Studies: Characterization and a New Approach Mara M. Abad-Grau 1 *, Nuria Medina-Medina 1, Rosana

More information

ITT Advanced Medical Technologies - A Programmer's Overview

ITT Advanced Medical Technologies - A Programmer's Overview ITT Advanced Medical Technologies (Ileri Tip Teknolojileri) ITT Advanced Medical Technologies (Ileri Tip Teknolojileri) is a biotechnology company (SME) established in Turkey. Its activity area is research,

More information

European Genome-phenome Archive database of human data consented for use in biomedical research at the European Bioinformatics Institute

European Genome-phenome Archive database of human data consented for use in biomedical research at the European Bioinformatics Institute European Genome-phenome Archive database of human data consented for use in biomedical research at the European Bioinformatics Institute Justin Paschall Team Leader Genetic Variation / EGA ! European Genome-phenome

More information

Genetic Epidemiology Core Laboratory

Genetic Epidemiology Core Laboratory 2012 CGM Report Genetic Epidemiology Core Laboratory 卓 越 成 員 Remarkable member Wei J. Chen 陳 為 堅 Professor/ / EDUCATION AND POSITION HELD Bachelor of Medicine, College of Medicine, National Taiwan University,

More information

14.3 Studying the Human Genome

14.3 Studying the Human Genome 14.3 Studying the Human Genome Lesson Objectives Summarize the methods of DNA analysis. State the goals of the Human Genome Project and explain what we have learned so far. Lesson Summary Manipulating

More information

Major Depressive Disorder: Stage 1 Genomewide Association in Population-Based Samples.

Major Depressive Disorder: Stage 1 Genomewide Association in Population-Based Samples. Major Depressive Disorder: Stage 1 Genomewide Association in Population-Based Samples. Patrick Sullivan 1, Danyu Lin 1, Jung-Ying Tzeng 4, Gonneke Willemsen 2, Eco de Geus 2, Dorret Boomsma 2 Jan Smit

More information

Multiple Sclerosis: a NZ Perspective. Dr Deborah Mason Neurologist Christchurch Hospital

Multiple Sclerosis: a NZ Perspective. Dr Deborah Mason Neurologist Christchurch Hospital Multiple Sclerosis: a NZ Perspective Dr Deborah Mason Neurologist Christchurch Hospital Multiple Sclerosis in NZ What is MS Epidemiology of MS in NZ Impact of the disease on PwMS Genetic and Environmental

More information

Roberto Ciccone, Orsetta Zuffardi Università di Pavia

Roberto Ciccone, Orsetta Zuffardi Università di Pavia Roberto Ciccone, Orsetta Zuffardi Università di Pavia XIII Corso di Formazione Malformazioni Congenite dalla Diagnosi Prenatale alla Terapia Postnatale unipv.eu Carrara, 24 ottobre 2014 Legend:Bluebars

More information

Gene Therapy. The use of DNA as a drug. Edited by Gavin Brooks. BPharm, PhD, MRPharmS (PP) Pharmaceutical Press

Gene Therapy. The use of DNA as a drug. Edited by Gavin Brooks. BPharm, PhD, MRPharmS (PP) Pharmaceutical Press Gene Therapy The use of DNA as a drug Edited by Gavin Brooks BPharm, PhD, MRPharmS (PP) Pharmaceutical Press Contents Preface xiii Acknowledgements xv About the editor xvi Contributors xvii An introduction

More information

Metabolic Syndrome Overview: Easy Living, Bitter Harvest. Sabrina Gill MD MPH FRCPC Caroline Stigant MD FRCPC BC Nephrology Days, October 2007

Metabolic Syndrome Overview: Easy Living, Bitter Harvest. Sabrina Gill MD MPH FRCPC Caroline Stigant MD FRCPC BC Nephrology Days, October 2007 Metabolic Syndrome Overview: Easy Living, Bitter Harvest Sabrina Gill MD MPH FRCPC Caroline Stigant MD FRCPC BC Nephrology Days, October 2007 Evolution of Metabolic Syndrome 1923: Kylin describes clustering

More information

Haematopoietic Chimerism Analysis after Allogeneic Stem Cell Transplantation

Haematopoietic Chimerism Analysis after Allogeneic Stem Cell Transplantation Haematopoietic Chimerism Analysis after Allogeneic Stem Cell Transplantation Dr Ros Ganderton, Ms Kate Parratt, Dr Debbie Richardson, Dr Kim Orchard and Dr Liz Hodges Departments of Molecular Pathology

More information

Validation and Replication

Validation and Replication Validation and Replication Overview Definitions of validation and replication Difficulties and limitations Working examples from our group and others Why? False positive results still occur. even after

More information

Groundbreaking Collaborative Clinical Trial Launched

Groundbreaking Collaborative Clinical Trial Launched Groundbreaking Collaborative Clinical Trial Launched For immediate release Media Contacts: June 16, 2014 Richard Folkers Alison Hendrie 9:00 a.m., EDT Foundation for the NIH Rubenstein Communications (301)

More information

MRC Technology Centre for Therapeutics Discovery

MRC Technology Centre for Therapeutics Discovery MRC Technology Centre for Therapeutics Discovery fast-tracking discovery and development of novel drugs from academia Dr Duncan Young Business Development Manager UbiFrance Symposium, October 2012 established

More information