ORPHANET

Information Resource for Rare

Diseases and Orphan Drugs

Dr Ayo Akinrinmade, Public Health England

September, 2015.

• 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 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 applications for different users

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)

www.orpha.net

PDFs

6

4 main sections

- Diseases ID card

- Disease summary

- Additional info on the RD

- Detailed info on the RD

& ‘suggest an update’ button

Orphanet

Disease Texts

National Congenital Anomaly 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 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 Registration Across England and Wales

9 The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)

Central team

NorthernY&H office South

West & Wessex office

London & SE office

West Mids office EM &

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 The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS)

November 2013

www.orpha.net