- Orphanet is an international portal for information on rare diseases and orphan drugs, with its headquarters in France. It began as a French pilot project in 1997 and became a Joint Action of the EU in 2000. - The portal includes an extensive database on rare diseases, with information on diagnoses, treatments, epidemiology and more. It aims to provide knowledge on rare diseases to healthcare professionals, researchers, patients and caregivers. - In the UK, Orphanet data was previously contributed through Manchester University but is now managed by Public Health England since 2015.

1. ORPHANET
Information Resource for Rare
Diseases and Orphan Drugs
Dr Ayo Akinrinmade, Public Health England
September, 2015.

2. • Orphanet is an international rare disease and orphan drug portal
• French (INSERM) pilot project in 1997 but became a Joint Action of EU in
2000
• Consortium of about 40 partner countries and France as headquarters
• UK contributed data for 10years through Manchester University but came
under Public Health England (PHE) in 2015
• PHE is an operationally autonomous executive agency of the UK’s
Department of Health established to protect and improve the nation’s
health, and reduce health inequalities.
2 Orphanet
Background

3. 3 Orphanet
Orpha.net
Orphadata
ORDO
Tools for
communication
and sharing
expertise
Evolutive
relational
knowledge DB
Scientific content -
expert validated &
integrated into
other resources
Orphanet database:Different applicationsfor different users

4. 4 Orphanet
• Orphanet nomenclature
• ORPHA code
Increase the
visibility of RD in
health information
systems
• Epidemiological data
• Expert resources & Orphan
drugs inventory
• Orphanet encyclopaedia
Provide knowledge
on RD to health
decision makers
• Orphanet classification
• Orphanet RD ontology
• Inventory of genes
Improve the
resources for
research on RD
field
Provide information
on RD to carers
and patients
Priority list for
epidemiological surveillance:
INVS
Collaboration with
EMA/Comp in the context of
the designation process
Collaboration with Rarecare
net
Integration into SNOMED-CT
 Integration into health
information system (France,
Germany…)
International Consortium of
Human Phenotype
terminologies
HPO
EBI: Population of ORDO
Cross-referencing:
- IUPHAR-BPS
- NCBI: Pubchem ; ClinVar;
MedGen & GTR
-- EBI: UniChem
Orphanet
objectives
Orphanet
products
Outcomes (scientific
collaborations 2014)

5. www.orpha.net
PDFs

6. 6
4 main sections
- Diseases ID card
- Disease summary
- Additional info on the RD
- Detailed info on the RD
& ‘suggest an update’ button
Orphanet
DiseaseTexts

7. National CongenitalAnomaly and Rare Disease
Registration Service (NCARDRS)
Vision
To develop and run a national congenital anomaly and rare disease
registration service for England
As a resource for:
Patients, families and carers, clinicians, researchers, commissioners
and public health professionals.
7 The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)

8. 8 The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)
• Only 49% of births are monitored
by 7 regional registers.
• Currently inequitable registration
and surveillance of congenital
anomalies across the population.
• Unable to provide comprehensive
outcome data for screening
programmes in England
Congenital Anomaly RegistrationAcross England and Wales

9. 9 The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)
Central
team
Norther
nY&H
office South
West &
Wesse
x office
London
& SE
office
West
Mids
officeEM &
SY
office
East
office
North
West
office
Oxford
office
Chief Medical Officer’s 2011 annual
report:
“Public Health England must ensure
nationwide coverage of the congenital
anomaly register.”
PHE’s mandate Establishing a federated Model

10. 10 The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)
November 2013

11. www.orpha.net