#rareshowcase - findacure · 2019-10-03 · groups interact with industry; making funding...

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

to maryrose@findacure.org.uk.

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: rick@findacure.org.uk 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: shelley.simmonds@hotmail.co.uk 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: jsn33@medschl.cam.ac.uk 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: janet@jlblaw.co.uk 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: jenni.evans@costellomedical.com 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: fc426@cam.ac.uk 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: daviderose88@gmail.com 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: richard.leach@mawdsleys.co.uk Web: www.mawdsleys.co.uk

Name Email Job Title Company

Jo Balfour jo@camraredisease.org Conference And Events Director

Cambridge Rare Disease Network

Volker Balk vbalk@kudosresearch.com Head Of Kudos Health

Kudos Health Research

Janet Bloor janet@jlblaw.co.uk Chair Action Duchenne

Susana Borja Boluda susana.borjaboluda@addenbrookes.nhs.uk Senior Clinical Research Nurse

Addenbrookes Hospital

Ramsay Bowden arb63@cam.ac.uk Clinical Research Fellow

Gurdon Institute, University Of Cambridge

Andrew Davies andrew.davies@stipharm.com CEO STI Pharmaceuticals Ltd

Tony Dean tony.dean@synteracthcr.com Senior Director SynteractHCR

Rosemary Edridge rosemaryedridge@btinternet.com Pseudomyxoma Survivor

Jenni Evans jenni.evans@costellomedical.com Senior Analyst Costello Medical Consulting

Nicki Greenham info@mcs-aware.org CEO MCS - Aware

Janet Greenley janet.turberville-greenley@bch.nhs.uk Roald Dahl Rare Disease Nurse

Birmingham Children’s Hospital

Annabel Griffiths annabel.griffiths@costellomedical.com Consultant Costello Medical Consulting

Jacqueline Hussain jacqueline.hussain@bch.nhs.uk Roald Dahl Rare Disease Nurse

Birmingham Children’s Hospital

Ron Jortner info@masthead-bioscience.com Managing Director Masthead Biosciences

Basia Kondratowicz basia.kondratowicz@incresearch.com Director, Business Development

INC Research

Rupa Kumar rk505@cam.ac.uk University Of Cambridge

Amy Lafont asg55@cam.ac.uk Research Study Coordinator

Imagine ID

Richard Leach richard.leach@mawdsleys.co.uk Global BD Manager Mawdsley-Brooks

Danielle Machin danielle.machin@costellomedical.com Publication Manager

Costello Medical Consulting

Madhu Madhusudhan mmadhusudhan@lifearc.org Senior Business Manager (Charity)

LifeArc

Zara Miles zara.miles@themrn.co.uk Marketing Manager

Medical Research Network

Lucinda Moore lucimoore78@gmail.com Pseudomyxoma Survivor

Name Email Job Title Company

Catherine Morlet cmorlet@pharmaproject.co.uk Research Consultant

CMPM Ltd

Suzanne Morris su_morris@hotmail.com

Jagtar Nijjar jsn33@medschl.cam.ac.uk NIHR Clinical Lecturer in Rheumatology

University Of Cambridge

Louise Platts louise.platts@crfhealth.com Director, Business Development

CRF Health

Flóra Raffai flora@camsight.org.uk CEO Cam Sight

Libbie Read libbie@findacure.org.uk Fundraising & Comms Officer

Findacure

Steve Richardson info@mpgnddd.org.uk Chair of Trustees MPGN/DDD Support Group

Sandra Richardson sandra.brightskycakecompany@gmail.com Member MPGN/DDD Support Group

Mary Rose Roberts maryrose@findacure.org.uk Events Officer Findacure

Luke Robinson lrobinson@akceatx.com General Manager Akcea Therapeutics

David Rose daviderose88@gmail.com Volunteer Cambridge Rare Disease Network

Jemima Saunders jemima.saunders@nhs.net Roald Dahl Rare Disease Nurse

Birmingham Children’s Hospital

Patrick Short patrick@heterogeneous.co.uk CEO Heterogeneous

Shelley Simmonds shelley.simmonds@hotmail.co.uk Trustee Action Duchenne

Nick Sireau nick@sireau.net Chair Findacure

Richard Smith richard.smith@illingworthresearch.com Business Development Director

Illingworth Research Group

Jane Swainson swainson.jane@gmail.com Patient Representative

RDUK

Charlene Tang charleneostang@yahoo.com Undergraduate / Publicity Officer

University Of Cambridge / Students 4 Rare Disease

Rick Thompson rick@findacure.org.uk CEO Findacure

Tony Thornburn OBE thornburn927@btinternet.com Chairman Behçet’s Syndrome Society

Patricia Vazquez Rodriguez

pv283@medschl.cam.ac.uk PHD Student University Of Cambridge

Francesca Wicks fc426@cam.ac.uk 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:

rick@findacure.org.uk maryrose@findacure.org.uk libbie@findacure.org.uk

www.findacure.org.uk

Registered charity number: 1149646 66 Devonshire Road, Cambridge, CB1 2BL