Pint of Science Festival: Rare Disease, Treasure Your Exceptions!

We are hosting 2 evening events at Thirsty Cambridge on 14 and 16 May for the fabulous Pint of Science festival  #pint18. This an event which some of our team were involved in in Cambridge during its first year of conception and have watched it expand into 300 cities around the world sharing the wonders of the lab with the general public in the comfort of their local pub.

Tonight’s event features talks from 3 great speakers:

...

New Finding! Mutations outside of genes contribute to severe neurodevelopmental disorders

Patrick Short (PhD Student, Wellcome Trust PhD in Mathematical Genomics and Medicine)
@patrick_j_short 
The Deciphering Developmental Disorders project has sequenced the genome from nearly 10,000 families across the UK and Northern Ireland with one or more affected children. Despite these efforts, more than 50% of the families in this study remain without a genetic diagnosis.
Patrick will share new findings about how mutations are disrupting the expression of important genes in early brain development and highlight some of the global efforts to share data and sequence the genomes of hundreds of thousands of families
...

Rheum with a view: Through the looking glass into rare joint diseases

Dr Jagtar Singh Nijjar (NIHR Clinical Lecturer in Rheumatology at the University of Cambridge)
@JagtarNijjar 
Rare inflammatory bone diseases cause significant pain and swelling of bones
and joints. In partnership with the NIHR BioResource Jagtar will establish a
national patient cohort that will allow us to look into the genetics of these
diseases and also carry out clinical trials. In this talk he will explore what rare
diseases can teach us about the common and the immense power of patient
cohorts and patient participation in research.
...

Unpicking the Genetic basis of Intellectual Disability

Professor Lucy Raymond (Professor of Medical Genetics and Neurodevelopment and Honorary Consultant at the Cambridge Institute for Medical Research, University of Cambridge. Her group aim to identify and understand the genetic causes of intellectual disability and their work has identified a number of new syndromes and greater understanding of the sequence variation of the human genome.)
@imagineidnews 
The venue has disabled access and toilet. The @steakandhonour food truck will be outside the venue from 6pm if people want to arrive early to get food.

 


Pint of Science Festival – Rare Disease: The Genomic Revolution, Searching for a Cure for the 1 in 17

We are hosting 2 evening events at Thirsty Cambridge on 14 and 16 May for the fabulous Pint of Science festival  #pint18. This an event which some of our team were involved in in Cambridge during its first year of conception and have watched it expand into 300 cities around the world sharing the wonders of the lab with the general public in the comfort of their local pub.

Tonight’s event features talks from 3 great speakers:

...

Living with a Rare Neurological Disease: A Dad and Genetic Scientist Explores the Patient and Parent’s Perspective

Dr Charles Steward (Clinical Genomics at Congenica)
Genome sequencing and the 100,000 genomes project has led to breakthroughs in shortening the diagnostic odyssey and informing care for some with rare diseases. Charles, genetic scientist of 25 years and father to a child with a rare neurological condition, is involved in the project as a participant, parent and consultant. He explores the ups and downs faced by families trying to search for and understand the cause of their child’s disease.
...

Snip, snip, snip: Correcting Defects in the Genetic Blueprint

Dr James Thaventhiran (MRC Clinician Scientist Fellow, Uni of Cam, Dept of Medicine)
Many rare diseases are caused by a defect in the genetic blueprint that carries the instruction manual for life. Sometimes the mistake can be a single letter in the three billion letters that make up the genome, with devastating consequences. Gene editing using ‘molecular scissors’ that snip out and replace faulty DNA could provide an almost unimaginable future for some patients: a complete cure.
...

“It’s Not All in My Head!”: The Complex Relationship between Rare Diseases and Mental Health Problems

Rebecca Nunn (Medical Student at University of Cambridge)
Rebecca Nunn, Medical Student at the University of Cambridge and owner of a rare disease, argues that the common experiences of rare disease patients have impacts upon the way in which their psychiatric care should be offered and managed, and that sensitivity and understanding surrounding these issues should be considered a necessary part of effective care for rare disease patients.

Has disabled toilet and access. Snacks and food will be available at the the venue o from 6pm if people want to eat beforehand.


Rethinking rare diseases-treating the whole patient

Our CEO Kay Parkinson on patients and their families as experts, working collaboratively with other experts in rare disease, in an article in Pharmaphorum magazine.


NIHR ‘Think Research’ Rare Disease patients Day

 

Venue: The Light, Friends House, 173-177 Euston Rd, Kings Cross, London NW1 2BJ

Time: 10am to 4.00pm  

Help make our Rare Diseases Patient Day a success!

The day is a joint collaboration between NIHR Cambridge Biomedical Research Centre and NIHR BioResource for Translational Research. The aim of the day is provide insight and training in aspects of Rare Diseases research, as well as information-gathering and networking opportunities.

Who will be speaking and facilitating on the day?

See full programme details Patient Day Agenda

Attendees will select an individual session to attend in the morning and a different session in the afternoon.

Session 1- Social Media

Session 2- Working with Industry

Session 3 – Genomics

Session 4- Data and Research

Jo Balfour from Cambridge Rare Disease Network will be facilitating a lunchtime discussion session exploring how Rare Disease groups can work with young people in their respective disease areas. Come and join the conversation!


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.


CRDN trustee helps new mums learn genomics from home

Dr Gemma Chandratillake, CRDN trustee and East of England Genomics Education Lead, attended the No Isolation AV1 avatar breakout workshop at the CRDN Summit 2017 in October. Like others attending she quickly began to see applications for the robot beyond it’s original purpose, to reduce isolation for children living with long-term, chronic illness.  At the summit, Mio Kristiansen, from No Isolation, gave the audience an opportunity to see the robot in action at it sat on the stage during the afternoon talks, controlled from Edinburgh by Rare Disease carer and father, John Wallace. John was unable to leave his family to travel to the event so joined us via AV1, watching the action live on his laptop at home, and on one occasion, heckling the speaker and being told to be quiet!

So how did this inspire Gemma to help her students? Read the article and watch the recent Channel 4 news footage from Jon Snow here 

 


Patient Centred Focus at Genomics Festival 30-31 Jan 2018 – Front Line Genomics

In January 2018 CRDN visited the 2 day GenomicsFest at ExCel in London hosted by Front Line Genomics. We heard inspiring talks and made great connections for the future. It was exciting to see Rare Disease charities and individuals taking to the stage to share the importance of genomics in diagnosis and personalised treatment and to give the science a human side.

The Transforming Genetic Medicine Initiative have written a great blog about the patient centred focus of the festival which we share here.  Read on to see how rare disease charities, individuals and advocates had their say…….

Patient-centered focus at Festival of Genomics

Thanks to http://www.thetgmi.org for allowing us to share their blog


CRDN Summit 2017 – The Film

We collaborated with Lucia Tambini,  filmmaker producing films for charities including Oxfam, Tourettes Action, SeeAbility and Walk the Walk, to capture the essence of our annual summit in 2017 and what it is about our city of Cambridge which offers great opportunities to drive change in Rare Diseases.

The theme of CRDN2017 was ‘Re-imagining the Patient Journey’ and we worked hard to give patients and patient groups a platform and voice at the event through the Patient Journey Poster Exhibition and the Lightning Pitches element of the day.

For those who attended, take a look to see if you made it on film! For those who were unable to attend but are curious, watch the film and be inspired to attend this years RareFest event – a weekend of celebration of everything rare on 30 Nov and 1 Dec 2018.

Watch the CRDN Summit Film 2017