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

Cambridge Rare Disease Day Lecture and Networking Event – 28 Feb 2018

You are invited to attend the Rare Disease Day Cambridge Lecture

Wednesday, February 28, 2018 from 5:30 PM8:00 PM

University of Cambridge School of Clinical Medicine, William Harvey Lecture Theatre

Jointly hosted by Cambridge Rare Disease Network and NIHR Cambridge Biomedical Research Centre

The evening highlights Rare Disease Day and Rare Disease Research

Are you interested in Rare Disease research?  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 involved in such research and those directly affected by rare disease
  • An opportunity to talk with researchers and professionals
  • Connecting 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 excellent opportunities for networking and sharing information and ideas


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 SivaplaaratnamClinical Research Fellow at the University of Cambridge ” New gene discovery in bleeding disorders: From living room to supercomputers”  explaining how his team undertakes 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.


Cambridge Rare Disease Network
Cambridge NIHR Bioresource Centre