Glossary of Terms – Definitions

AP’s Associated Partners
API Application Programming Interface
ATMP Advanced-Therapy Medicinal Products
BBMRI Biobanking and Biomolecular Resources research Infrastructure
BMS Biomedical Science
BRN Biospecimen Research Network
BYOD Bring Your Own Data
CDEs Common Data Elements
CiBiBa Connecting Biobanks
CIG Core Implementation Group
CTTV Centre for Therapeutic Target Validation
CWA Concept Web Alliance
DAC Data Analysis Centre
dbGaP database of Genotypes and Phenotypes
DCC Data Coordination Centre
DG SANCO DG santé Consommateurs
DM Data Mining
DMD Duchenne Muscular Dystrophy
DMP Data Management Plan
EATRIS European Infrastructure for Translational Medicine
EBB Euro BioBank
EC European Commission
ECRD The European Conference on Rare Diseases
ECRIN European Clinical Research Infrastructure Network
EFPIA European Federation of Pharmaceutical Industries and Associations
EGA European Genome-phenome Archive
EHDN European Huntington ’s Disease Network
EHR European Health Record
EHRs Electronic Health Records
EHRs European Health Registries
ELSI Ethical Legal and Social Issues
EMA European Medicines Agency
EMC Executive Management Committee
EMMA European Mouse Mutant Archive
ENA European Nucleotide Archive
ENGAGE European Network for Genetic and Genomic Epidemiology
EPIRARE European Platform for Rare Diseases Registries
ERA European Research Area
ERB Ethics Review Board
ERIC European Research Infrastructure Consortium
ERN European Reference Network
ERTC Eurordis Round Table of Companies
ESFRI European Strategic Forum for Research infrastructures
ESHG European Society of Human Genetics
EU European Union
EUCERD European Union Committee of Experts on Rare Diseases
EUDAT European Data Infrastructure
EUROPLAN European Project for Rare Diseases National Plans Development
EVA European Variation Archive
FAIR Findable, Accessible, Identifiable, Re-usable
FDA US Food and Drug Administration
FET-ICT Future and Emerging Technologies in Information and Communication Technologies
GB Governing Board
GRDR Global Rare Diseases Patient Registry and Data Repository
GUI Graphical User Interface
GUID Global Unique Identifier
GWAS Genome Wide Association Studies
HD Huntingtons Disease
hiPSCs Human Induced Pluripotent Stem Cells
HPO Human Phenotype Ontology
HTS High-throughput Screening
HTTPS Hypertext Transfer Protocol Secure
HVP Human Variome Project
IA Innovation Actions
ICD International Statistical Classification of Diseases and Related Health Problems
ICGC International Cancer Genome Consortium
IHEC International Epigenome Consortium
IMI Innovative Medicines Initiative
INB Spanish Institute of Bioinformatics
IP Intellectual Property
IPC Intellectual Property Committee
IPR Intellectual Property Rights
iPSC Induced Pluripotent Stem Cells
IRDiRC International Rare Disease Research Consortium
ISMB Intelligent Systems for Molecular Biology
ISO International Organization for Standardization
ITFoM IT Future of Medicine
JA Joint Action
JRA Joint Research Activity
JRC Joint Research Centre
KD Knowledge Discovery
LOPAC Library of Pharmacologically Active Compounds
LOVDs Leiden Open Variation Databases
LSDBs Locus Specific Databases
MIABIS Minimum Information About Biobank Data Sharing
miRNA Micro RNA
mRNA Messenger RNA
MS Member State
MT Management Team
NCATS National Center for Advancing Translational Sciences
NCBI National Center for Biotechnology Information
NCBO National Centre for Biomedical Ontology
NDAR National Database for Autism Research
NEMDBs National Ethnic Mutation Databases
NGS Next Generation Sequencing
NIH National Institutes of Health
NORD National Organization for Rare Disorders
OD Orphan Drug
OECD Organisation for Economic Cooperation and Development
OMIM Online Mendelian Inheritance in Man
OMP Orphan Medicinal Products
OPHG The Office of Public Health Genomics
ORDR Office of Rare Diseases Research
ORDO Orphanet Rare Disease Ontology
PAC Patient Advisory Council
PARENT Joint Action Cross Border PAtient REgistries iNiTiative
PEC Project Ethics Council
PPP Public-Private Partnership
RD Rare Disease
RD-HUB Rare Disease HUB
RD-ID Rare Disease Global Unique Identifier
RI Research Infrastructure
RTD Research and Technological Development
SAB Scientific Advisory Board
SNOMED Systematized Nomenclature of Medicine
SOPs Standard Operating Procedures
TACT TREAT-NMD Advisory Committee for Theraputics
TNA Translational Access
TNGB Telethon network of Genetic Biobanks
TRND Therapeutics for Rare and Neglected Diseases
UMD Predictor Universal Mutation Database Predictor
VA Virtual Access
VCF Variant Calling Format
VPN Virtual Private Network
WHO World Health Organisation
WP Work Package
WPL Work Package Leaders