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.


Parachute Jumping for CRDN

parachuteSix incredible ladies, Helena Baker, Zoe Napier, Emily Mortimer, Lisa Griffin, Caroline Churn and Juliette Newton will be parachute jumping for CRDN on the 4th June!! We’ll be there to cheer them on and watch them fly at Beccles Airfield, Norfolk. Please help our courageous ladies achieve their £1,800 fundraising target by donating through Helena’s Just Giving page, Emily’s Just Giving Page and Zoe’s Just Just Giving Page

So why CRDN?   Helena Baker is Vice President of the Nursing Medical Research Network and was one of the key speakers at our event in March 2016, where we discussed the potential need for a rare disease nursing service.

Helena BakerHelena was born with Fibular Hemimelia, a rare congenital disorder that left her, in her own words, with one leg shorter than the other– a tiny club foot, lots of missing ligaments in her leg and body, and a fierce determination not to let any of these problems stop her from doing what she wanted in life, except perhaps play hockey. Helena recalls growing up having more operations than hot dinners, but never received a diagnosis.

Eventually, just before she turned 50, she was told of her diagnosis. Doctors were clear there was nothing her mother could have done during pregnancy that would have changed the outcome. She is sure that having had a diagnosis earlier would have made a world of difference to her parents.

Helena has been recovering from more surgery having had her right leg amputatedHelena BakePNG below the knee last September and is currently learning to walk again. She is continuing to make a great recovery as she’s getting to grips with her new prosthetic leg.  Unfortunately there’s been a slight set back with Helena breaking her remaining ankle. Helena says “On the day, I’m not allowed to jump wearing my prosthetic leg and I’m also not allowed to land on my recently broken one remaining ankle.  So I’m going to land on my instructor who will be delighted.  I’m planning on testing them out beforehand for looks and comfort. “ Helena’s grit and good humour never cease to astound us. She reassured us  “we are approaching our impending doom in the spirit of total denial, all desperately trying to pretend that it’s not happening”.  That’s the spirit Helena!!

Because of her strong belief that having access to a rare disease nursing service would have been a huge support to her and her family, she has decided to take on a parachute jump on Sunday 4th June 2017 at Beccles Airfield alongside Zoe Napier, Emily Mortimer, Lisa Griffin, Caroline Churn and Juliette Newton, to help raise funds for CRDN towards their goal of establishing such a nursing service for those with rare diseases.

 

Thank you for your support and good luck and a huge thank you to Helena and her team!!


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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Rare disease diagnostics: bringing genomics to the clinic

Genomic medicine is changing our world. The rapid decrease of the price of DNA sequencing has opened up numerous new possibilities, and is starting to enter clinical practice.

However, even though we understand the genetic causes of 50% of rare diseases, early diagnostics remains a challenge. In the UK, it still takes an average of 6 years and visits to 8 doctors to get a diagnosis, and many people never get an answer at all.

By scanning through entire genomes at once, DNA sequencing has the potential to change this. Come discuss the opportunities and the challenges of this new technology in a clinical setting, with some of the experts in the field.

Speakers:

  • Dr Caroline Wright, Project Manager, DDD project
  • Dr Gemma Chandratillake, Genetic Counsellor and Product Manager, Personalis
  • Dr Fiona Nielsen, Founder of DNAdigest
  • Dr Sobia Raza, Science Programme Lead, PHG Foundation

Invited organisations:

  • Genomics England
  • DDD project
  • PHG Foundation
  • DNAdigest

Agenda

17.30: Doors open
18.00: Lecture/panel discussion and Q&As (10-15 min per speaker)
19.30: Wine reception
21.00: End of event