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

Speakers

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.


Rare Disease Day Lecture and Networking Event – 28 Feb 2017

Rare Disease Day Cambridge Lecture and Networking Event
Tues 28 February 2017 from 6pm to 9pm
at Cambridge Judge Business School

FREE event. Register for tickets here

https://www.eventbrite.co.uk/e/rare-disease-day-cambridge-lecture-tickets-29971545700


Jointly hosted by

Cambridge Rare Disease Network

NIHR Rare Diseases Translational Research Collaboration


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 directly affected by rare disease
  • An opportunity to talk with researchers and professionals
  • To connect with other patients and carers
  • Drinks and nibbles after the speakers

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

About Rare Disease Day

2017 marks the 10th year that the internationally rare disease community will celebrate Rare Disease Day.

On 28 February 2017, 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.

FAQs

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

Cambridge Judge Business School (the old Addenbrookes) is located directly opposite the Fitzwilliam Museum on Trumpington Street. There is metered parking along Trumpington Street, or you may prefer to park at the Grand Arcade shopping centre’s car park, which is just five minutes’ walk from the School.

Cambridge Judge Business School is a ten-minute taxi ride from the rail station and taxis can be found outside the station entrance. Cambridge city centre bus station on Drummer Street, is less than 10 minutes’ walk from the School. Bicycle racks can be found at the front of the school.

Where can I contact the organiser with any questions?

Please contact Georgina Norris via email: gan23@medschl.cam.ac.uk alternatively Tel: 01223 254608

Alongside speakers listed below we’ll hear from the newly formed Cambridge Students4RareDiseases Group and Katy Baker, a University student living with  a rare condition called Scimitar Syndrome.

  • Professor Patrick Chinnery

    Professor Patrick Chinnery

    Co-Chair for NIHR Rare Diseases Translational Research Collaboration. Clinical Neurologist & Wellcome Trust Senior Fellow

  • Karen Harrison

    Karen Harrison

    Endocrine Project Manager for ALD LIFE. Karen is a carrier of ALD and parent to two affected sons, one who died aged 8.

  • Professor Stephen Jackson

    Professor Stephen Jackson

    Cambridge University Professor of Biology. Head of Cancer Research UK Laboratories at Gurdon Institute

  • Dr Nick Sireau

    Dr Nick Sireau

    CEO of AKU Society, has two sons affected by Black Bone Disease. Chairman of Findacure & member of Eurordis board of Directors


CRDN Summit 2016

Following the sell-out success of its first summit in 2015, the Cambridge Rare Disease Network is once again bringing international leaders and local experts together in Cambridge to bridge the gap between research, industry, business and patient groups.

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