#rareshowcase - findacure · 2019-10-03 · groups interact with industry; making funding...
TRANSCRIPT
The Cambridge Rare Disease
Showcase
With thanks to our
sponsor
Supported by
24th August 2017 - Baroosh, Cambridge
Delegate Pack
#RareShowcase
We would like to welcome you all to The Cambridge Rare Disease
Showcase, where we will be highlighting innovations in the field of rare
diseases. Our programme features examples of current projects in the
local area, personal stories of living with a rare disease, and
overcoming barriers in rare research and treatment.
Thank you to our delegates who have taken on our lightning talk
challenge, and to all of you for your enthusiasm for the event. We
encourage everyone here to send their thoughts, ideas, and feedback
www.findacure.org.uk
@findacure_fdn @findacure_fdn findacurefoundation
Findacure is a UK charity that is building a rare disease community that
has the skills and knowledge to address patient needs, drive research,
and develop treatments.
Our vision is a world in which all rare diseases have treatments - made together with
patients, for patients.
We have two main aims...
To empower patient groups to build their patient communities,
develop as a charity, and drive treatment development.
We believe that patient groups have a fundamental role to play in addressing patient
needs and representing the patient voice in research. Any change for patient benefit
must include patients in the process.
To promote collaboration between rare disease stakeholders to
facilitate treatment development for all.
We truly believe collaboration between patients, clinicians, the pharmaceutical industry,
medical professionals, and other interest groups, is necessary for the rare disease
community to progress and confront its most pressing challenges. A unified rare disease
community is certainly better than the sum of its parts.
We hope you enjoy the evening!
Dr Rick Thompson - CEO, Findacure
An introduction to Findacure
Dr Rick Thompson joined Findacure in 2015, after completing his PhD in Evolutionary Biology
at the University of Cambridge. He oversees the charity’s strategy and development, leads
on the drug repurposing social impact bond and oversees major funding applications. He
also works to encourage industry engagement with rare disease patient groups, promoting
an open and collaborative approach to rare disease research.
Email: [email protected] Web: www.findacure.org.uk
Shelley Simmonds - Trustee, Action Duchenne
Living with Duchenne
Shelley is mummy to two children - April and Fraser. In 2014 at 11 months old, Fraser was
diagnosed with Duchenne Muscular Dystrophy – with no previous family history. Fraser has
not presented with Duchenne like other boys and his clinicians have never seen a Duchenne
boy like him before – he is rare within rare and for this reason they are also enrolled in the
100,000 Genomes Project. Shelley is a passionate patient advocate and fundraiser.
Email: [email protected] Web: www.facebook.com/fraserandfriends
Dr Jagtar Nijjar - NIHR Clinical Lecturer, Cambridge University
Inflammatory bone diseases beyond genetics
Dr Jagtar Singh Nijjar is a NIHR Clinical Lecturer in Rheumatology at the University of
Cambridge. He studied medicine at the University of Glasgow and was awarded the Brunton
and Robert Fullerton prize for the most distinguished graduate. His interests include
stratified medicine and how ‘omics based technologies can be combined with high-density
clinical data into clinically useful tools. One focus during his time at Cambridge is
investigating the pathogenesis of rare inflammatory bone diseases such as SAPHO and how
we can work with patients to set a research agenda in rare diseases.
Email: [email protected] Web: www.med.cam.ac.uk
Janet Bloor - Chair, Action Duchenne
Living with Duchenne
Janet’s association with Action Duchenne goes back 10 years, when her son Philip was
diagnosed with Duchenne Muscular Dystrophy. Having spent 25 years as a graphic designer,
she decided to go back to university to study law, and learn the advocacy skills she knew she
would need to fight for Philip’s rights. Her son, now 23, is currently on the Sideros Trial,
which has shown good results for respiratory stability for steroid naïve patients. Janet has
been Chair of Action Duchene for the last four years and is gearing up for their annual
International Conference, taking place in November, in Birmingham.
Email: [email protected] Web: www.actionduchenne.org
Jenni Evans - Senior Analyst, Costello Medical Consulting
Towards overcoming evidence development challenges in rare diseases
Jenni is a Senior Analyst in the Evidence Development Division at Costello Medical Consulting
Ltd. She holds a BSc in Biomedical Science and a PhD in Biological Science from the
University of Warwick. Jenni specialises in conducting literature reviews and has led
numerous reviews within the field of rare diseases. These reviews have ranged from
comprehensive systematic reviews for health technology assessment purposes to targeted
reviews to inform economic models or summarise expert opinion in the field.
Email: [email protected] Web: www.costellomedical.com
Francesca Wicks - Research Study Coordinator, Imagine ID
Rare disease diagnosis - so what does this mean for my child?
With a background in Medical Biochemistry and Intellectual Property law, Francesca began
her research career at King’s College London Department of Palliative care, Policy &
Rehabilitation. Here, she led several dissemination and engagement initiatives, and the
Institute’s Patient and Public Involvement group. Francesca joined the IMAGINE ID
international research project at the University of Cambridge in 2016 under Prof Lucy
Raymond. Over 1,600 people with intellectual disability that has a genetic cause have joined
so far.
Email: [email protected] Web: www.imagine-id.org
David Rose - Volunteer, Cambridge Rare Disease Network
What is Occipital Horn Syndrome?
David is a 28-year-old economics graduate from Cambridge who was diagnosed with
‘Occipital Horn Syndrome in 2016’, after an incorrect diagnosis of Ehlers-Danlos Syndrome at
the age of two. David is the only known person in the UK with this syndrome. He is
passionate about sharing his personal health journey. Currently, David is using his skills and
expertise as a volunteer for Cambridge Rare Disease Network and Great Ormond Street
Children’s Hospital. He is hoping to work in the rare disease field one day.
Email: [email protected] Web: www.camraredisease.org
Richard Leach - Global BD Manager, Mawdsley-Brooks
Accessing new medicines and treatments for rare diseases
Richard Leach is the Global Business Development Manager at Mawdsley-Brooks – a UK
pharmaceutical company that is the largest independent supplier of licensed and unlicensed
medicines to the UK’s National Health Service. Richard has a First Class honours degree in
Biotechnology and a career in the pharmaceutical industry since 1995. Richard has worked
for a variety of small biotech/pharma companies as well as multinational large pharma
including CMO, CRO, drug delivery, R&D and wholesale/distribution companies.
Email: [email protected] Web: www.mawdsleys.co.uk
Name Email Job Title Company
Jo Balfour [email protected] Conference And Events Director
Cambridge Rare Disease Network
Volker Balk [email protected] Head Of Kudos Health
Kudos Health Research
Janet Bloor [email protected] Chair Action Duchenne
Susana Borja Boluda [email protected] Senior Clinical Research Nurse
Addenbrookes Hospital
Ramsay Bowden [email protected] Clinical Research Fellow
Gurdon Institute, University Of Cambridge
Andrew Davies [email protected] CEO STI Pharmaceuticals Ltd
Tony Dean [email protected] Senior Director SynteractHCR
Rosemary Edridge [email protected] Pseudomyxoma Survivor
Jenni Evans [email protected] Senior Analyst Costello Medical Consulting
Nicki Greenham [email protected] CEO MCS - Aware
Janet Greenley [email protected] Roald Dahl Rare Disease Nurse
Birmingham Children’s Hospital
Annabel Griffiths [email protected] Consultant Costello Medical Consulting
Jacqueline Hussain [email protected] Roald Dahl Rare Disease Nurse
Birmingham Children’s Hospital
Ron Jortner [email protected] Managing Director Masthead Biosciences
Basia Kondratowicz [email protected] Director, Business Development
INC Research
Rupa Kumar [email protected] University Of Cambridge
Amy Lafont [email protected] Research Study Coordinator
Imagine ID
Richard Leach [email protected] Global BD Manager Mawdsley-Brooks
Danielle Machin [email protected] Publication Manager
Costello Medical Consulting
Madhu Madhusudhan [email protected] Senior Business Manager (Charity)
LifeArc
Zara Miles [email protected] Marketing Manager
Medical Research Network
Lucinda Moore [email protected] Pseudomyxoma Survivor
Name Email Job Title Company
Catherine Morlet [email protected] Research Consultant
CMPM Ltd
Suzanne Morris [email protected]
Jagtar Nijjar [email protected] NIHR Clinical Lecturer in Rheumatology
University Of Cambridge
Louise Platts [email protected] Director, Business Development
CRF Health
Flóra Raffai [email protected] CEO Cam Sight
Libbie Read [email protected] Fundraising & Comms Officer
Findacure
Steve Richardson [email protected] Chair of Trustees MPGN/DDD Support Group
Sandra Richardson [email protected] Member MPGN/DDD Support Group
Mary Rose Roberts [email protected] Events Officer Findacure
Luke Robinson [email protected] General Manager Akcea Therapeutics
David Rose [email protected] Volunteer Cambridge Rare Disease Network
Jemima Saunders [email protected] Roald Dahl Rare Disease Nurse
Birmingham Children’s Hospital
Patrick Short [email protected] CEO Heterogeneous
Shelley Simmonds [email protected] Trustee Action Duchenne
Nick Sireau [email protected] Chair Findacure
Richard Smith [email protected] Business Development Director
Illingworth Research Group
Jane Swainson [email protected] Patient Representative
RDUK
Charlene Tang [email protected] Undergraduate / Publicity Officer
University Of Cambridge / Students 4 Rare Disease
Rick Thompson [email protected] CEO Findacure
Tony Thornburn OBE [email protected] Chairman Behçet’s Syndrome Society
Patricia Vazquez Rodriguez
[email protected] PHD Student University Of Cambridge
Francesca Wicks [email protected] Research Study Coordinator
Imagine ID
Upcoming
Working with Industry Workshop Friday 8th September - Royal Society, London
This workshop will explore the different ways patient groups can interact with pharmaceutical and
biotech industries. The day will feature four talks, which will outline: when, where and why patient
groups interact with industry; making funding partnerships with industry; advising industry; and
partnering with industry for research. This workshop is now sold out with a waiting list enabled. If
you would like to join the waiting list, please register here:
https://findacure-industry-workshop.eventbrite.co.uk
The Newcastle Rare Disease Showcase Tuesday 31st October - Centre for Life, Newcastle
Join us for a day-long event to celebrate and highlight rare disease projects taking place in Newcastle
and the North East. By providing a friendly forum for patient groups, researchers, clinicians and life
science professionals to come together, we hope to encourage collaborations within the rare disease
community to improve the future of rare disease science and healthcare. The day will feature talks
on rare bone disorders, neuromuscular disorders and rare skin cancers, and include an afternoon
networking session with lightning talks proposed by delegates. Early bird tickets are available until
Monday 11th September and is free to attend for patient groups and charities. You can register here:
https://findacure-newcastle-rare-showcase.eventbrite.co.uk
Peer Mentoring Scheme 2017-18 October 2017 - October 2018
Are you looking to set up or grow an advocacy group for your rare disease? Or are you a rare disease
professional looking to share your experience and skills? Our peer mentoring scheme is about to
entre its third year, and we are looking to recruit mentees and mentors for the 2017-18 cohort. This
is a year long programme that pairs mentees and mentors according to their needs and skills. If you’d
like to be a part of the programme’s next round and would like more information, please get in
touch. We will be opening applications in early September.
Watch this space!
Contact:
www.findacure.org.uk
Registered charity number: 1149646 66 Devonshire Road, Cambridge, CB1 2BL