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TRANSCRIPT
Searching databases for
rare disease information
David OZIELEURORDIS
www.eurordis.org
EURORDIS Online Training
Part 1Characteristics of databases
3
Database definition
Collection of information,
concerning a defined domain,
organized ,
described with precise and specific keywords ( indexed)
4
Organisation and indexation of a databaseOrphanet
Fabry disease
Alpha-galactosidase A deficiency
Research programs
Clinical trials
Drugs
Clinics
Diagnosis
Texts on diseases
Persons
Anderson-Fabry diseaseLocation
Angiokeratoma, diffuse
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Organisation and indexation of a databasePubmed
Prophylaxis in bleeding disorders.
Oldenburg J.Thromb Res. 2011 Jan;127
Abstract
Author(s)
Location(s)
Journal
Editor
Title
Keywords (topics)
disease,…
Subheadings
Diagnosis, treatment,…Primary prophylaxis with coagulation factor concentrates has become the standard of care for children with hemophilia to reduce the risk of bleeding and related morbidity…
Date
6
Google Databases
1,000 billion pages collected
Selected resources
Full text Keywords + Full text
Variable quality Validated information
FreeAds
Fees
Various types / kinds
7
Bibliographic databases
Topics
Journal, Date, Title,
Authors
8
Directory (factual) databases
9
Numeric databases
10
Full text databases
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Part 2Rare disease databases
12
Major resources
• Orphanet
• NORD Rare disease database
• Genetics Home Reference
• Gene Reviews
• OMIM
• Medscape Reference
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Orphanet
• Portal
• 6,000 diseases
• 6 languages
• Directory of services
• Online encyclopaedia
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15
Major resources
• Orphanet
• NORD Rare disease database
• Genetics Home Reference
• Gene Reviews
• OMIM
• Medscape Reference
Major resources
16
Major resources
• Orphanet
• NORD Rare disease database
• Genetics Home Reference
• Gene Reviews
• OMIM
• Medscape Reference
Major resources
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Part 3Orphan drug information
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Designation and Marketing authorization
• Orphan drugs� Prevalence < 1 / 2,000 people
• Designation� Criteria
• EMA (European Medicines Agency)� COMP (Committee for Orphan Medical Products)
• Marketing authorization� Central authorization procedure
• U.S., Australia, Japan,…
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Orphan drugs
• List of orphan drugs
� European Medicines Agency (EMA)
� Orphanet
• Orphan drug databases
� Eudrapharm
� Orphanet
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Orphan drugs
• List of orphan drugs
� European Medicines Agency (EMA)
� Orphanet
• Orphan drug databases
� Eudrapharm
� Orphanet
Orphan drugs
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• Eudrapharm (EMA)� Drugs with marketing authorization� Europe� Centralized procedure� 1995
� Summary of Product Characteristics– European languages
– characteristics as agreed during the assessment pro cess– for health professionals – available for general public.
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• Orphanet� Orphan designation in Europe� Marketing authorization
– Europe– United States– Japan, Australia,...
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Part 4Clinical trial databases
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Clinical trials
• Research study
� New drug, new indication
� Medical device
• Safety
• Efficacy
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