Crick News

ISSUE 11

February 2014

Exploring rare diseases

Polycystic kidneys, CT scan

Polycystic kidneys, CT scan
© ZEPHYR/SCIENCE PHOTO LIBRARY

On February 20th, over 300 people attended the latest Crick symposium on the theme of 'Rare Diseases' at Senate House. There are over 6000 recognised rare diseases which are often chronic and life-threatening and have an enormous impact on the lives of patients and their families. At some point in their lives, it is estimated that 7% (4.2million) of the UK population will be affected by a rare disease.

This symposium examined the genetic information that predisposes an individual to a rare disease and explored the mechanisms of rare disease as well as introducing examples of current personalised medicine and therapeutic approaches. Scientists and clinicians from the Crick partners including UCL, King's and Sanger presented their research and guests also heard from the President of PKD International who spoke about her personal experience of living with polycystic kidney disease.

Phil Beales, from the UCL Institute of Child Health hosted the event:

"I thought the sympsosium went extremely well and I received many positive comments. The broad range of attendees including patients, school pupils, pharma representatives, IT specialists, as well as scientists, found the meeting enlightening, optimistic and potentially empowering (for patients with rare diseases)."

The next symposium will be held on the 9th June at King's College London on the subject of Optical Microscopy. Click here for the full programme and registration details.