Back to homepage

Orphanet website UK entry point

Orphanet United Kingdom
Orphanet international services
  • An inventory and classification of rare diseases
  • An encyclopaedia
  • A directory of services: clinics, laboratories, research projects, registries, clinical trials, patient organisations
  • An inventory of orphan drugs
  • Guidelines, reports
  • A newsletter
Access these services in:
This page presents the news, events and documents of national significance.

To access all information on rare diseases, orphan drugs and expert services visit the main Orphanet portal (




Public Health England (PHE) hosts Orphanet-UK. PHE is an operationally autonomous executive agency of the Department of Health. It exists to protect and improve the nation's health and wellbeing, and reduce health inequalities. PHE achieves these through advocacy, partnerships, world-class science, knowledge and intelligence, and the delivery of specialist public health services.


Under the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), Orphanet UK operates to partly fulfil PHE's commitments to UK Strategy for Rare diseases -The UK Strategy for Rare Diseases 


The UK Implementation Plans: Implementation Plan 

Implementation Plan England 2019  

Implementation Plan Scotland 

Implementation Plan Wales 

Implementation Plan NI


The NCARDRS was launched on 1st of April 2015, as a resource to support patients, clinicians, service delivery, commissioning and public health. The service looks to engage patients, charities and public, therefore the documents below provide details on the importance of the service, the benefits and options for patients: 


NCARDRS under Public Health England




NCARDRS Patient Leaflet



Please contact us through





To update or register your activities, including registering expert resources, please follow the link below or send us an email using the address above.



To register rare disease expert centres that are not nationally designated, please see the link below for the criteria used.






How to Develop In Vitro Models for Rare Disease Research - Aug 2020


This online event will be a presentation by Healx – a Cambridge, UK artificial intelligence drug-discovery company, in collaboration with BitBio (a Cambridge, UK cell coding startup) and CureSHANK. This is an event to discuss and encourage rare disease research innovation. It is best suited to researchers, however, is open to all. The event is scheduled for 17:00 London time on 13/08/2020 and will take place on Zoom. Topics will include:

- What makes a good in vitro model
- The pros and cons of in vitro model system types
- The use of stem cell-derived models to measure the effectiveness of compounds
- How to initiate collaborations for reprogramming and modelling diseases using stem cells
- Q&A session

The registration form can be found here:


Further information on Healx (including their collaborations with patient groups and bio-pharma organisations) can be found here:




International Conference on Orphan Drugs, Rare Diseases and Conditions – 20 Aug 2020 [Online]

This event is designed to allow networking between academic and scholarly groups to improve visibility of rare diseases. The event is geared towards researchers, students, academics and those in the pharmaceutical industry. There will be a number of presentations and talks on cutting edge research for rare diseases including unpublished and experimental studies aimed to broaden the field.

Available at:




The 2020 Genetics Summit – 04 September 2020 [Online]

This event is aimed at patients, researchers, labs, non-profit organisations and geneticists. This is a great opportunity for professionals to network and for patients to discuss treatments and experiences with experts in the field. 

Link is available here:




Orphan Drugs & Rare Disease Congress – 14 September 2020

This event is taking place in London and it is focussed on networking between government, the biotech industry and non-profit organisations. There are also talks and discussions aimed at patients and patient-groups designed to steer future discussions and research. Key topics for the congress will include development, commercialisation, collaboration, pricing and government policy. See link here -




Global Patient Congress – Autumn (Exact Date TBC)

This event is focussed on patient organisations and is run by the International Alliance of Patients’ Organisations. This event is an excellent opportunity to network within the healthcare field and would be especially beneficial to rare disease patient organisations, allowing the sharing of expertise and experiences. Patient organisations can create networks which can more effectively, raise the profile of specific rare diseases.

Available at:




ORPHAN Europe 2020 – 09 October 2020

Orphan Europe 2020 is taking place in London. The event is primarily focussed on professionals and networking within the orphan disease industry. The conference will be an excellent opportunity for networking between organisations and industry leaders to promote orphan disease technology and business.

It is available here:




Orphan Drugs and Rare Diseases 2020 is taking place in London and focusses on promoting orphan drugs and improving the viability and economics of treatments for biotechnology companies and researchers. The goal of the conference is to accelerate development of orphan drugs to improve patient outcomes and quality of life.

This is available at:




Rare Fest 2020 – 28 November 2020

Rare Fest 2020 is a free virtual event which aims to be a very interactive exhibition. There is a focus on patient wellbeing and empowerment. This event is a great opportunity for rare disease patients to meet others who are affected by rare diseases and to celebrate science, technology and the organisations who focus on improving patients’ lives.





Access Orphanet services in the UK and other countries in:
Legal noticeContact us — Last updated on: 20-08-12