Rare Disease Day

Rare Disease Day - 2016

100,000 Genomes Project


Genomics England

This project is sequencing 100,000 DNA codes of patients, leading to better, earlier diagnosis and personalised care, for cancer, rare diseases and infectious diseases.

For more information on this ground-breaking project, please click here to visit the Genomics England website or download the PDF icon100K Genomes Project leaflet

If you have any enquiries regarding this project, please contact Samantha Lawrence by email or by telephone on 0207 566 2260.

Rare Disease Day Web Chat


Moorfields Eye Hospital

Moorfields Eye Hospital are hosting a live web chat with Professor Michel Michaelides, who is a Consultant Ophthalmologist specialising in retinal disease, inherited eye conditions and paediatric ophthalmology. The web chat is taking place on  12:30 to 13:30.

If you would like to contribute or watch the questions and answers for the Rare Disease Day live web chat, please click here.


  1. World Health Organisation Priority Eye Diseases: http://www.who.int/blindness/causes/priority/en/index3.html
  2. A comparison of the causes of blindness certifications in England and Wales in working age adults (16–64 years), 1999–2000 with 2009–2010, Liew G, Michaelides M, Bunce C, British Medical Journal, Feb 2014
  3. Leading causes of certifiable visual loss in England and Wales during the year ending 31 March 2013, Quartilho A, Simkiss P, Zekite A, Xing W, Wormald R, Bunce C, Eye, Jan 2016
  4. ©The data provided by Moorfields Eye Hospital, captured by the Certificate of Vision impairment (CVI) are Department of Health copyright and this work was made possible in collaboration with the Royal College of Ophthalmologists. Any views expressed in the publication are those of the author(s) alone and not necessarily those of the Department of Health.