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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
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Welcome to Orphanet UK 

This page features news, events and documents from the UK Orphanet team.

For information on rare diseases, orphan drugs and expert services please 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.


You can find out more about PHE and the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) on our Governance page


Please email us at





To update or register your activities, including registering expert resources, please follow the link below to Professor (our self service tool) or send us an email using the address above.


Orphanet Professor (Self Service Tool)



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








Curating the Clinical Genome – 12-14 May 2021 (Online)


This year’s Curating the Clinical Genome Conference provides an opportunity for the clinical genomics and biodata community to share best practices for the use of genomic data. The programme will be of interest to a wide group of clinicians and clinical scientists practising genomic medicine, medical genomics researchers, clinical genomics companies and data scientists interested in genomic data sharing.

Online session times will vary but will run in the afternoon for Europe and morning for the Americas.

For more information, visit the Wellcome Genome Campus website:






European Human Genetics Conference – 12-15 June 2021 (Online)

This event aims to provide a platform to share the most exciting advancements in human genetics and inspire the next generation of human geneticists.


Participants will have access to over 100 hours of live sessions, plus on-demand content which will be available for 3 months after the conference. In addition, attendees will be able to network with the top companies in the field of genetics.


For more information, please visit EHGC:






ESPE (European Society for Paediatric Endocrinology) 2021 – 22-26 September 2021 (Online)

ESPE 2021 will focus on the theme of Lifelong endocrine care through collaboration, discovery and innovation and will look at some of the most exciting discoveries being made in genetic/genomic research. The event provides unparalleled opportunities to network with peers from across the sector, helping to foster new collaborations worldwide.


For more information, please visit the ESPE website:






Rare Fest 2021 – 07 October 2021

Rare Fest is a free virtual event which aims to be more interactive than most other exhibitions. 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 lives.


The 2021 event has been scheduled for October 2021 - be sure to keep an eye out for more news closer to the time




For more information, please visit the Cambridge Rare Disease Network:





Rare 30 – 23 February 2021 (Online) 

This event is aimed at professionals and policymakers and is the result of a 2-year study into rare disease policies. Topics of discussion include access to healthcare, data and diagnostics. There will also be breakout sessions to provide an opportunity to discuss the policy recommendations put forward by the panel.


More information available here:



EURODIS Black Pearl Awards – 24 February 2021 (Online)

The EURODIS Black Pearl Awards recognise outstanding achievement in the rare disease community. This year there have been over 1700 nominations across a variety of categories. Voting is also open for awards in the Young Patient Advocate, Written Media and Visual and Audio Media categories. Join the event on the 24th of February to see the winners be announced.


More information available here:





Glasgow Webinar Series in Rare Conditions: What's new in Rare Conditions? – 25 February 2021 (Online)

This free event will provide an update on patient experience from Professor Faisal Ahmed, plus a discussion on the new UK Rare Diseases Framework (2021).


More information available here:




Rare Disease Day – 28 February 2021 (Global)

This is a global event to raise awareness of rare diseases and the impact they have on patients’ lives. Rare Disease Day was first launched in 2008, and last year 67 countries held over 260 events to raise money and awareness for rare diseases. If you would like to find a local event, please follow the links below the video.


More information on UK events available here:

Click here to post your 2021 Rare Disease Day event:





HDYO’s International Young Adult Virtual Congress – 13-14 March 2021 (Online)

This global event is aimed primarily at young adults aged 18-35 who have been impacted by Huntington’s Disease and will include two days of insightful talks, sharing, research updates, peer support and fun!


For more information, please visit the HDYO website:





Genomics of Rare Disease - 22-24 March 2021 (Online)

This event is aimed at researchers and will explore the latest findings in rare disease genomics. The focus will be on large-scale whole genome sequencing studies which have the potential to greatly impact our understanding of rare diseases. 


More information available at:




Last Updated: 06 April 2021


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Legal noticeContact us — Last updated on: 21-04-07