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Rare Disease Day Cambridge Lecture: CRDN & NIHR Bioresource

February 28, 2018 @ 5:30 pm - 8:00 pm

Rare Disease Day 2018 logo
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NIHR Rare Disease Day Cambridge Lecture
Weds 28 February 2018 from 6pm to 8pm
at University of Cambridge School of Clinical Medicine

Jointly hosted by

NIHR Cambridge Biomedical Research Centre
Cambridge Rare Disease Network

The evening highlights Rare Disease Day and Rare Disease Research 

Are you interested in Rare Disease research? 

Do you want to find out more about the research taking place in Cambridge in the field of Rare Disease?

If the answer is yes then this evening lecture and networking opportunity will be of interest to you.

It will Include:

  • Updates about rare disease research
  • Hearing from speakers directly affected by rare disease
  • An opportunity to talk with researchers and professionals 
  • To connect with other patients and carers
  • Refreshments on arrival and drinks reception following

With representatives from Rare Disease Community, Patients, charities and researchers the evening offers fantastic opportunities for networking and information sharing.



Professor David RowitchProfessor of Paediatrics and Head of Department, University of Cambridge  “Early detection and advanced therapy for childhood neurogenetic diseases in the UK”

Professor Patrick ChinneryHead of Department for Clinical Neurosciences “Mitochondrial Disease”

David Rose, CRDN Volunteer and GOSH speaker living with ultra-rare Occipital Horn Syndrome “My Patient Journey and What Research Means to Me” 

Dr Victoria ER Parker, Consultant in Endocrinolgy and member of the Segmental Overgrowth Study at WT-MRC Institute of Metabolic Science (IMS), Addenbrooke’s Hospital presenting the results of their clinical trial of sirolimus in PIK3CA related overgrowth

Professor Fiona Karet, Prof of Nephrology and Consultant in Renal Medicine at the School of Clinical Medicine, Cambridge whose team’s research explores kidney malfunction and mutations of genes in rare kidney conditions such as Gitelman Syndrome. They also study common inherited kidney disorders such as polycystic kidney disease.   

Dr Ian Roberts, Chief Technology Officer for Healx Ltd  “Drug re-purposing for Rare Diseases”

Dr Suthesh Sivaplaaratnam, Clinical Research Fellow at the University of Cambridge ” New gene discovery in bleeding disorders:From living room to supercomputers”  he will explain how they undertake family studies, why they are so useful and how data is used.                                                             

About Rare Disease Day

2018 marks the 11th year that the internationally rare disease community will celebrate Rare Disease Day.

On 28 February 2018, people living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases.


What are my transport/parking options for getting to and from the event?

Getting to the Clinical School Map and Directions

Car parking is available at a discounted rate of £3.60 (the cheaper all day rate) in car park 1 only, this is the closest car park to the Clinical School.  The entrance to car park 1 is opposite the Cambridge Blood Centre.

On entering the car park take a ticket from the machine at the barrier, there are 750 spaces (63 disabled spaces). Take the exit on the ground floor walking towards the Main Hospital. At the end of the ramp (covered walk way) you’ll find the Clinical School’s entrance directly across the road.

On returning to your car, go to the customer service desk on the ground floor. Show the attendant your Eventbrite ticket and for £3.60 they will give you a replacement ticket to use when exiting the car park.  

By Bus

There are lots of buses to the campus (Bus A stops close to the venue at outpatients).   For details visit http://www.stagecoachbus.com 

By Bicycle

There is parking for bicycles across from the Clinical School’s entrance and the outpatient area.

Where can I contact the organiser with any questions?

Please contact Georgina Norris via email: gan23@medschl.cam.ac.uk alternatively Tel: 01223 254608 or Jo Balfour via email: jo@camraredisease.org


William Harvey Lecture Theatre
University of Cambridge School of Clinical Medicine, Addenbrookes Hospital
Cambridge Biomedical Campus, Cambridgeshire CB2 0SP United Kingdom
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