OFFICIAL EVENT SPONSOR International Rare Disease Summit 2016 · 2017. 4. 24. · CRDN Launch Event – ‘Parent Entrepreneurship’ Judge Business School, Cambridge Did you know?

Cambridge International Rare Disease Summit 2016 Robinson College, Grange Road, Cambridge, CB3 9AN

OFFICIAL EVENT SPONSOR

Me

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RD

NThe Team

Advisory Group Members

Dr Nick Ibery

Steering Group Members

Dr Moharem El Gihani Sarah Dawson Dr Gemma Chandratillake

Thanks to our Conference Volunteers

Alev Sen

Karolina Zapadka

Ivan Christian

John Parkinson

Emily Leslie

Ekida Sarang

Trustees

Dr Nick Sireau

Founding Trustee

Flóra Raffai

Trustee

Prof Alan Barrell

Founding Trustee

Alastair Kent, OBE

Founding Trustee & incoming Chair

Kay Parkinson

Chief Executive Officer

Alma Daly

Accounts Executive

Jo Balfour

Conference & Events Director

Dr Tim Guilliams

Founding Director & outgoing Chair

Cambridge Rare Disease Network welcomes you to our second

international rare disease summit. We are proud to have brought

speakers from around the world, bringing new thinking to the

many issues affecting rare disease patients, including personal

testimonies, improved treatments, holistic care and much more.

We hope you have time to meet and mix with patients, industry,

health professionals and academics, as only through a

“collective intelligence” approach can we hope to improve

the lives of the 1 in 17 people affected by rare diseases.

By the time you leave our summit, our dedicated

sessions aim to have helped increase your

understanding of the challenges facing

patients and professionals alike.

Enjoy the day!

Welcome

Cambridge International Rare Disease Summit 2016

The programme features international guests and local experts covering

all the active sectors in rare disease research and advocacy.


Did you know?

Approx 3.5 million people

in the UK are affected by

rare disease

Rare disease UK

5

International Summit October 2016

#CRDN2016camraredisease.org

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Schedule for the Day

08:30 - 09:00 Registration and welcome coffee

09:00 - 09:20 Welcome AddressWelcome from CRDN: Kay Parkinson - CEO Dr Tim Guilliams - Founder & outgoing Chair, Alastair Kent - Trustee & incoming Chair

09:20 - 09:40 Keynote Avril Daly – Vice President of EURORDIS

09:40 - 10:00 Keynote Professor Patrick Maxwell - Regius Professor of Physic and Head of the School of Clinical Medicine of the University of Cambridge

10:00 - 11.10 Panel – Powerful Voices Chair - Alastair Kent OBE - Director of Rare Disease UK and Genetic Alliance, incoming Chair of CRDN

Daniel Lewi – Co-Founder and Charity Director of The Cure & Action for Tay-Sachs (CATS) Foundation

Karen Harrison – Endocrine Awareness Project Manager, ALD Life Dr Lucy McKay – Founding member of Students4RareDiseases Rebecca Stewart – Co-Founder and Editor of Rare Revolution Magazine and Co-founder of Teddington Trust

11:10 - 11:40 Coffee break

11:40 - 12.40 Panel – ‘Riding the personalised medicine wave to accelerate progress in rare disease treatment’Chair – Dr Paul Tunnah - CEO & Founder of pharmaphorum media

Emily Kramer-Golinkoff MBE - Co-Founder and Executive Board Member of Emily’s Entourage, US

Dr Richard Scott - Clinical Lead for Rare Disease at Genomics England Dr Birgitte Volck - Head of Research & Development for Rare Diseases, GlaxoSmithKline Dr David Pardoe - Associate Director & Head of Growth Projects MRC Technology

12:40 - 14:10 Lunch Networking Lunch Exhibition Stands SameButDifferent Photography Exhibition

Dr Nick SireauFounding Trustee

14:10 - 15.10 Round Table of Companies - breakout room sessionChairs – Dr Tim Guilliams, CEO of Healx, and Kay Parkinson, CEO of CRDN Inaugural group to include, amongst others:

Abcam and Milner Therapeutics Institute – Dr Jonathan Milner Horizon Discovery and Locus Genetics – Lydia Meyer-Turkson Sobi – Neil Dugdale Alexion Pharmaceuticals – Sarah Trafford-Jones Raptor Pharmaceuticals – Amjad Hussain Shire – Verity Thomas-James MRC Technology – Dr David Pardoe Geneadvisor – Dr Jelena Aleksic Royal Society of Medicine – Dr Nick Ibery New Philanthropy Capital – Rachel Wharton Findacure – Flóra Raffai Congenica – Dr Andy Richards CRDN – Dr Moharem El Gihani Pharmaphorum – Dr Paul Tunnah Biopointis Alliance – Anna Somuyiwa Patient Centred – Emma Sutcliffe Altogame – Eija Mäkirintala

14:10- 15:00 Short talks - International Innovation Chair – Dr Nick Sireau, Chairman of AKU Society and Findacure

Dr Olivier Menzel – President and Founder of BLACKSWAN Foundation, Switzerland Karsten R. Barton – Head of Department, Frambu - Centre for Rare Disorders, Norway Dr Alex MacKenzie – Care for Rare, Canada

15:00 - 16:00 Short Talks - Innovations in Health Chair – Dr Gemma Chandratillake, Education and Training Lead for the East of England Genomic Medicine Centre

Dr Lucy Raymond – Professor of Medical Genetics and Neurodevelopment University of Cambridge

Dr Larissa Kerecuk – Rare Disease Lead at Birmingham Children’s Hospital Professor Stephen Jackson – Senior Group Leader and Head of CRUK Laboratories, Gurdon Institute

Dr Femida Gwadry-Sridhar – Founder and CEO of Pulse Infoframe Inc

https://twitter.com/search?q=%23CRDN2016&src=typd

http://camraredisease.org

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16:00 – 16:20

16:20 -17:10

Afternoon break: ‘Unique Feet’ – A Tale of Rare Dancers

Panel ‘Bridging the Technology – Patient Gap’Chair – James Taylor - Director of Corporate Development, GlaxoSmithKline

Dr Jonathan Milner – Lead Investor and Director at Healx and Deputy Chairman at Abcam

Dr Andy Richards, CBE – Biotech Entrepreneur Julie Walters – Founder of Raremark Lydia Meyer-Turkson – Consultant Business Strategy, Horzon Discovery USA, and Co-Founder of Locus Genetics

17:10 - 17:30 Closing Keynote Ben Howlett MP - Chair of All Party Parliamentary Group (APPG) on rare, genetic and un-diagnosed conditions

17:30 – 19:00 Drinks reception Crausaz Wordsworth Building at Robinson College

19:00 – 22:00 Gala DinnerCrausaz Wordsworth Building at Robinson College

Ben Howlett MPAPPG

Schedule for the Day

CRDN Launch Event – ‘Parent Entrepreneurship’ Judge Business School, Cambridge

Did you know?

In the UK, 1 in 17 people will

be affected by a rare disease

at some point in their life

Rare disease UK



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SPEAKER PROFILES

Avril Daly is the CEO of Retina International the global patient-led umbrella group dedicated to the promotion of research into Rare and Inherited as well as Age-related forms of retinal degenerative conditions. She previously held the position of CEO at Fighting Blindness Ireland.

She is the Vice President of EURORDIS (Rare Disease Europe) and chairperson of the Genetic and Rare Disorders Organisation (GRDO), the Irish National Alliance for Rare Diseases. In 2011 Avril was appointed by the minister for health to the steering committee working towards the development of the Irish National Plan for Rare Diseases, (2014) and now sits on its oversight committee and represents the patient voice on the working group of the Clinical Programme for Rare Diseases at the Irish Health Service Executive (HSE). Avril was previously co-chair of the National Vision Coalition in Ireland. Avril was a founding board member of the Medical Research Charities Group (MRCG) and, the Irish Platform for Patients’ Organisations, Science and Industry (IPPOSI). Avril was diagnosed with the rare retinal condition Retinitis Pigmentosa in 1998.

Dr Gemma Chandratillake is trained as a molecular geneticist and genetic counsellor. She has a long-standing interest in rare genetic diseases, having used both fruit flies and worms to model alpha-1-antitrypsin deficiency and Niemann-Pick type C disease in the lab.

In Feb 2012, Gemma joined the Stanford University spinout company Personalis, Inc., and developed a clinical genomic sequencing test for the diagnosis of individuals with rare disease. Since moving back to the UK, Gemma has focused on healthcare professional education in genetics. She is the Education & Training Lead for the East of England Genomic Medicine Centre (NHS) and coordinates the Masters course in Genomic Medicine at the University of Cambridge.

At CRDN she is a member of the steering group interested in working with stakeholders (clinical, academic, industry, and families) to find creative ways to mainstream genomics within the NHS for the benefit of patients with rare disease.

Dr Gemma ChandratillakeEducation and Training Lead for the East of England Genomic Medicine Centre

Avril Daly Vice President of EURORDIS

Dr Femida Gwadry‐-Sridhar is the Co‐-Founder and CEO of Pulse Infoframe Inc. She has her PhD in Research Methodology, Health Economics, McMaster University. She is a pharmacist, epidemiologist and methodologist with over 25 years of experience in clinical trials, disease registries, knowledge translation, health analytics and clinical disease outcomes. She is the Founder of the first knowledge translation health informatics lab in North America in 2006, creating a collaborative ecosystem for interdisciplinary research. In 2008 this facility I‐THINK research developed a physical and virtual platform to support multidisciplinary research. The platform has evolved to enable the integration of clinical, imaging and histopathology data.

Under her guidance they have commercialized these ventures. More recently, Pulse has collaborated with international funding agencies advancing the requirements for rare disease registries. Collecting relevant and actionable data in rare disease is particularly important and the team at Pulse have addressed relevant questions about data sharing, governance, ontologies and patient reported outcomes- which are so key in understand real world evidence.

Dr Gwadry‐Sridhar received a career scientist award from CIHR as a New Investigator in knowledge translation‐ coupled with an operating grant. Over the span of her career she has obtained more than $ 10 million in funding for research as a principal investigator or co‐investigator, published in top tier journals and had the privilege of working alongside the best in the world of medicine and business. She was a founding member of the ISPOR medication adherence group ‐providing an early glimpse into how to conduct research in adherence. She enjoys collaborating and has been fortunate to do so around the globe across different disciplines and cultures. This experience has resulted in a healthy understanding of the value of collaboration‐both as individuals and across the globe.

Dr Femida Gwadry‐-SridharCo‐-Founder and CEO of Pulse Infoframe Inc.

Did you know?

Rare diseases are not

uncommon. There are over

6,000 known rare conditions

Rare disease UK

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After studying for a degree at Durham University, and a Master’s from the University of Cambridge, Ben worked alongside the NHS as a senior healthcare consultant. Between 2007 and 2011, Ben served as a local councillor in Essex and between 2010 and 2013, he was the National Chairman of Conservative Future, the youth wing of the Conservative Party.

Ben was selected as a Conservative candidate at an open primary in 2013 and was elected as the Member of Parliament for Bath in May 2015. In Parliament, Ben is a member of the Women and Equalities Select Committee and the Petitions Select Committee. Ben is the Chair of All Party Parliamentary Group (APPG) on rare, genetic, and undiagnosed conditions.

Ben Howlett, Chair of APPG on rare, genetic and undiagnosed conditions

SPEAKER PROFILES

Karen is the Endocrine Awareness Project manager for the UK charity ALD Life, supporting patients and their families who are living with a diagnosis of adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN).

ALD is an X-linked hereditary condition which causes demyelination of the brain, which if not diagnosed and treated in a timely manner causes severe disability. There are several phenotypes of the condition with childhood onset cerebral ALD being the most severe, affecting boys between the ages of 4 and 10.

Karen is a carrier of ALD and has two affected sons, one who died aged 8.

Karen Harrison, Endocrine Awareness Project manager, ALD Life

Tim is a social entrepreneur passionate about startups, technology transfer and knowledge exchange. As Founder & CEO of Healx, he is excited about the challenge of delivering the next generation of therapeutics to rare disease patients in need.

He is also the Founding Director of the Cambridge Rare Disease Network, a non-profit aiming to foster dialogue, awareness and bring together the active stakeholders in the rare disease space. Tim is equally a Junior Associate Fellow of the Centre for Science and Policy (CSaP) at Cambridge University. Prior to Healx, Tim was the Director of Knowledge Exchange at Innovation Forum. He spent some time at the Department for Business, Innovation and Skills (BIS) working on University-Industry interactions and cluster dynamics in the area of Life Sciences. His PhD was obtained in the field of Biophysical Neuroscience at the University of Cambridge, where his research related to the development of camelid antibody fragments (Nanobodies) as potential therapeutic and biophysical tool for Parkinson’s disease. Before moving to Cambridge, Tim obtained an MEng in Bio-Engineering from the University of Brussels (VUB).

Dr Tim Guilliams, Founding Director of CRDN & CEO of Healx

Stephen Jackson FRS, FMedSci is Cambridge University Professor of Biology, Senior Group Leader and Head of CRUK Laboratories at the Gurdon Institute, and an Associate Faculty at the Sanger Institute.

Steve’s research has provided us with many principles by which cells respond to and repair DNA damage, and has indicated how DNA-repair dysfunction yields cancer and other diseases. Steve founded the companies KuDOS Pharmaceuticals (he was CSO 1997-2010) and MISSION Therapeutics (2010-date).

Three KuDOS drugs are now in clinical trials by AstraZeneca. One of these, olaparib/Lynparza, was recently approved for market in the USA and EU for ovarian cancer, and is in late-phase trials for various other cancers.

Professor Stephen Jackson, Senior Group Leader and Head of CRUK Laboratories, Gurdon Institute

Did you know?

Rare diseases can be

single gene, multifactorial,

chromosomal or non-genetic

Rare disease UK

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James has recently completed the divestment of the meningococcal vaccines business to Pfizer in a €150m transaction. As the head of the transaction team he led the auction process and deal discussions with the potential acquiring companies, the business carve-out from the GSK infrastructure, and the contract negotiations and approvals with the EC regulator.

James has led a number of significant transactions at GSK, including the strategic collaboration and equity investment with GlycoVaxyn Zurich leading to the $190m acquisition of the company. He also negotiated the in-licensing of the recombinant polio vaccine as part of the joint venture with India’s Biological E. James has been a key member of the Business Team for the DTP Neisseria products, developing the strategy and negotiations with Novartis, which has been a key part of the $6 billion acquisition completed this year.

Prior to joining GSK, he has held Board level commercial roles in UK BioPharma following an international career with AstraZeneca in Europe, China and USA. At Summit Plc, the publicly listed rare genetic diseases company, James was Chief Business Officer leading deals worth over $150m with Biomarin and the acquisition of Daniolabs. At Cellzome Inc, a proteomics platform company based in Cambridge UK he led partnership deals worth over $145m with Novartis, Johnson & Johnson and Bayer Healthcare. As CEO of Oxford Epigenetics the oncology company, James developed the business plan for the university spin-out and led the seed financing with Sofinnova. James has worked as a non-executive director with Karus Therapeutics, the IP Group (London) and ISIS Innovation (Oxford).

At AstraZeneca, James led the transaction team based in Hong Kong and China for a major joint venture investment near Shanghai and the corporate holding company and partnership with Sinopharm in Beijing. As part of this transaction he worked at senior levels with the Chinese regulator and also raised financing with Bank of China. As Head of Biotechnology BD at AstraZeneca’s plant genetics business he led the R&D commercialisation strategy and managed the BD team concluding partnership deals worth over $200m in the US, Europe and Japan with Incyte, Maxygen, JT Biosciences. He also held commercial roles during his early career in the USA and UK. James brings extensive business strategy experience and a track record of deal-making, broad international experience and leadership of business development teams.

James Taylor, Director of Corporate Development, GlaxoSmithKline

Dr Jonathan Milner, Lead Investor and Director at Healx and Deputy Chairman at Abcam, Cambridge. Having worked in the life science industry for over ten years as an academic researcher, Jonathan identified the market opportunity for supplying high-quality antibodies to support protein interaction studies, and in 1998, founded Abcam with David Cleevely and Professor Tony Kouzarides.

Jonathan is an experienced entrepreneur and investor and is passionate about supporting UK life science and high-tech start-ups. He has provided considerable investment and support to over 30 companies and has assisted three IPOs in joining AIM. A non-executive director of Healx Ltd, Horizon Discovery Group plc, GeoSpock Ltd and chairman of Axol Bioscience Ltd, Definigen Ltd, Repositive Ltd, GeneAdviser Ltd and PhoreMost Ltd.

Dr Jonathan Milner Lead Investor and Director, Healx, and Deputy Chairman, Abcam

Alastair Kent, OBE, Director of Genetic Alliance UK and Founder of Rare Disease UK. Alastair came to Genetic Alliance UK over 20 years ago because he was excited by the challenge that new knowledge in genetics created the idea that, for people affected by a genetic condition, yesterday’s science fiction is tomorrow’s clinical service improvement.

Trying to transform these possibilities into positive outcomes whilst reducing the potential for abuse is an incredible challenge, and Alastair feels incredibly privileged to work in this field.

The fact that Genetic Alliance UK is now a respected and authoritative voice for patients and families is something of which Alastair takes pride, and also a huge sense of responsibility. It is a challenge that excited him on the first day he became aware of the impact of genetic disorders and which continues to excite him today.

Alastair Kent, OBE Founder of Rare Disease UK and Director of Genetic Alliance UK

SPEAKER PROFILES

Did you know?

Approximately 50% of rare

diseases do not have a

disease specific foundation

supporting or researching

their rare disease

Rare disease UK

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Dr Larissa Kerecuk is very proud to be the Rare Disease Lead at Birmingham Children’s Hospital where she is developing the first Children’s Rare Disease Centre in the UK. This centre will provide a better integrated holistic care for children, young people and families affected by rare diseases as well as increasing access to research and new treatments. Larissa is the lead for the 100 000 Genome Project at Birmingham Children’s Hospital, the lead recruiter in the West Midlands, which will provide a diagnosis and personalised approach to many yet undiagnosed children.

As Consultant Paediatric Nephrologist, Larissa specialises in treating children with kidney diseases including those on dialysis, which requires a holistic approach. Larissa is also Renal Research and Transition Lead and places great importance in integrating care for all patients. Larissa is the founder and coordinator of the Autosomal Recessive Polycystic Kidney Disease Rare Disease Group in the UK and has established international collaborations with the US and Europe. Larissa also developed the Human Factors Course to improve patient safety. More recently Larissa has been appointed as the NIHR Clinical Specialty Lead for Paediatrics in the West Midlands and her vision is for research to become an integral part of everyday NHS care.

Dr Larissa Kerecuk Rare Disease Lead at Birmingham Children’s Hospital

Emily Kramer-Golinkoff MBE, a 31-year-old with advanced stage Cystic Fibrosis, is Co-Founder of Emily’s Entourage, a 501(c)3 that accelerates research for new treatments and a cure for Cystic Fibrosis, nationally recognized patient advocate and speaker.

Since 2011, Emily’s Entourage has raised over $2 million and led worldwide efforts to fast-track research and drug development on nonsense CF mutations like Emily’s. Named a White House Precision Medicine “Champion of Change,” Emily has given talks at The White House, TEDx, University of Pennsylvania’s Annenberg School for Communication graduation, and Stanford University’s Medicine X, where she is an ePatient Advisor. Her story has been featured on CNN.com, People.com, Time.com, Yahoo Health, CBS’s The Doctors, and more.

Emily has a master’s degree in bioethics and certification in clinical ethics mediation from the University of Pennsylvania, where she also completed her undergraduate degree.

Emily Kramer-Golinkoff MBE,Co-Founder of Emily’s Entourage

SPEAKER PROFILES

Dan’s eldest daughter Amelie was diagnosed with Tay-Sachs in 2011 at 15 months of age and upon finding that there was no dedicated charity providing support for families affected by this disease he set set-up the Cure & Action for Tay-Sachs (CATS) Foundation with his wife Patricia.

Since the charity was launched, Dan has been able to grow The CATS Foundation so that it now offers a variety of services to its family members, including equipment, respite trips and funeral funding grants.

The charity was also recently nominated as the patient organisation for a clinical trial into Tay-Sachs using gene therapy and Dan is actively involved in this ground breaking work.

Daniel Lewi, Co-Founder, The CATS Foundation

Alex MacKenzie, an attending pediatrician at the Children’s Hospital of Eastern Ontario (CHEO) in Ottawa Canada, has served as the CEO and Science Director of the CHEO Research Institute as well as Vice President of Research for both CHEO and Genome Canada in addition to being founding scientist of the AeGera biotech company.

Presently he is Vice-Dean Research for the Department of Pediatrics at CHEO. Dr. MacKenzie’s laboratory has conducted translational research on the rare pediatric disorder spinal muscular atrophy over the past 25 years and, in recent years, has broadened its focus with its involvement in the enhance Care for Rare project to search for therapies for a larger number of rare diseases.

Dr Alex MacKenzie, Science Director of the CHEO Research Institute

Did you know?

80% of rare diseases have a

genetic component

Rare disease UK

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Patrick Maxwell is a clinician scientist and in 2012 was appointed Regius Professor of Physic and Head of the School of Clinical Medicine at Cambridge. He has been centrally involved in a series of discoveries that have revealed how changes in oxygenation are sensed, and how genetic alterations cause kidney disease. He holds Wellcome Trust and NIHR Senior Investigator Awards and has a research group in the Cambridge Institute for Medical Research.

He is a Fellow of the Royal College of Physicians and the Academy of Medical Sciences and is currently Chair of the MRC’s Molecular and Cellular Medicine Board.

Professor Patrick Maxwell, Regius Professor of Physic and Head of the School of Clinical Medicine at Cambridge

Dr Lucy McKay is a founding member of Students4RareDiseases - a national network of medical student societies that aim to increase understanding of rare diseases amongst future doctors. She trained at Barts and The London School of Medicine and Dentistry where she founded The Barts Rare Diseases Society and was president for 2 years.

She previously studied Human Genetics at Nottingham and has now completed her Foundation medical training. Lucy is currently taking a year out from medical training to work on the S4RD project, revise for Paediatric specialty exams and travel with her husband.

Lucy wants to encourage medical students to be inquisitive and think outside the box in order to improve a patient’s journey to a rare diagnosis

Dr Lucy McKay, Founder of Students4Rare Diseases

SPEAKER PROFILES

Dr Olivier Menzel graduated (B.Sc.) from the University of Geneva where he obtained a Master of Medical Genetics (M.Sc.) in 2001 and a PhD in 2006 from the University of Lausanne and EPFL at the Swiss Institute for Experimental Cancer Research (ISREC).

For seven years he directed the laboratory of pediatric surgery at the University Hospital of Geneva.

In parallel he created the BLACKSWAN Foundation, a Swiss foundation to support research on rare and orphan diseases worldwide, organized an international scientific conferences (RE(ACT) Congress)and launched an online platform for sharing scientific knowledge and crowdfunding (RE(ACT) Community).

In 2013 he obtained an Executive MBA from the HEC of Lausanne with a specialization in Management Healthcare. He acted as managing director of a company specialized in the identification, acquisition, development, marketing and sale of research programs for rare and orphan diseases and as director of the second largest group of private clinics in Switzerland. Now he is Managing Director at Think Rare Sàrl and fully involved in the BLACKSWAN Foundation activities.

Dr Olivier Menzel, President and Founder of BLACKSWAN Foundation

Dr David Pardoe has an extensive 25 year background in discovering new therapeutics and research tools and has been instrumental in delivering four candidate molecules to the clinic.

After leaving a management position at GlaxoSmithKline, David spent seven years working as a consultant across the healthcare value chain delivering new diagnostics, devices and drugs that create real benefit for patients.

David is now Head of Growth Projects at MRC Technology in the UK. He works with medical research foundations, academia and industrial partners to accelerate and promote new medicines to patients through the development of novel operational and funding models.

Dr David Pardoe, Head of Growth Projects at MRC Technology, UK

Did you know?

95% of over 6,000 rare

diseases still have no specific

treatment

Rare disease UK


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SPEAKER PROFILES

Karsten R. Barton’s first encounter within the field of rare disease was as a student in 1997, when he took his first job as an assistant at Frambu’s summer camps for youths with rare disorders. The following nine years he spent my summers working as camp leader and activity leader at camp.

In 2007 he began working as a Physiotherapist and leisure time consultant at Frambu.

From 2009 to present day, Karsten has have been Department manager. He is currently responsible for Frambu’s summer camps, daycare center and elementary school. He is educated as a Physiotherapist with an MSc in adapted physical activity, recreation and sports.

Karsten R. Barton, Head of Deptartment Frambu - Centre for Rare Disorders, Norway

Dr Richard Scott is Clinical Lead for Rare Disease at Genomics England where he works with the scientific and NHS clinical communities to maximise the clinical, transformational and research outputs of the 100,000 Genomes Project.

He is also Consultant in Clinical Genetics at Great Ormond Street Hospital for Children and an Honorary Senior Lecturer in the Genetics and Genomic Medicine Unit at the UCL Institute of Child Health.

Richard trained in medicine at Cambridge University and University College London. He specialised in Paediatrics and subsequently Clinical Genetics in London and completed his PhD on childhood cancer syndromes at the Institute of Cancer Research. His main interests are in the clinical and molecular diagnosis of rare dysmorphic, neurological and multisystem childhood disorders. He has a particular interest in the translation of new genomic technologies into clinical practice.

Dr Richard Scott, Clinical Lead for Rare Disease at Genomics England

Rebecca’s rare disease journey began in 2012 when it arrived, uninvited, into the family with the diagnosis of her sister’s son with Xeroderma Pigmentosum at just 13 months old.

Seeing a lack of information and support, especially for children, she founded the Teddington Trust which she runs with her sister Nicola. They run a number of education and health and well-being projects, as well as a dedicated patient guidance and support service. Their small charity is rapidly growing and now achieves global reach.

Frustrated by the barriers faced within the rare disease community in achieving meaningful and lasting awareness, equality, positive representation (without the sensational headlines), and access to research and drug developments, in a language that can be understood by all, Rebecca and Nicola have gone on to launch Rare Revolution Magazine. Their vision for the magazine is to create a platform for the rare disease community to find good quality information and a safe place to have their RARE voices heard.

Rebecca Stewart, Co-founder and Editor Rare Revolution Magazine and Co-Founder of Teddington Trust

Dr Paul Tunnah founded pharmaphorum in 2009, which has rapidly evolved and developed its services to drive better communication, connection and collaboration between the pharmaceutical industry and other healthcare stakeholders. He is a recognised author, speaker and moderator with a passion for helping organisations tell authentic stories that resonate, co-create solutions and unlock the power of digital and social media in connecting with customers and understanding markets. Prior to this, Dr Tunnah attained a BA in Biochemistry and DPhil in Biological Sciences from Oxford University, before working in commercial consulting for Datamonitor, IMS Health and SmartAnalyst.

Today, pharmaphorum’s expertise spans both publishing (www.pharmaphorum.com) and content marketing / communications consulting, including cross-stakeholder collaborative media (www.pharmaphorumconnect.com). The company’s capabilities are underpinned by the common strengths of extensive global networks, a firm finger on the pulse of changing market dynamics and deep expertise in creating engaging, relevant content.

Dr Tunnah can be contacted by emailing: [email protected] or tweeting @pharmaphorum.

Dr Paul Tunnah CEO, pharmaphorum

Did you know?

Approx 3.5 million people

in the UK are affected by

rare disease

Rare disease UK

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Dr Nicolas Sireau is Chairman and CEO of the AKU Society, a medical charity that works to find a cure for and support patients with AKU (also called Black Bone Disease), an ultra rare disease that affects his two sons (www.akusociety.org).

The AKU Society is a fast-growing patient movement, with formal patient groups in the UK, France, Italy, Germany, the Netherlands, Jordan, Belgium, Slovakia, North America and India. It is spearheading an international consortium of biotechs, pharma companies, universities, hospitals and clinical trial centres across Europe, the Middle East, Asia and North America. It works closely with the hospital and university in Liverpool.

Dr Sireau is Co-founder and Chairman of Findacure (www.findacure.org.uk), a new social enterprise that raises awareness into and helps patients with fundamental diseases: extreme and exceptional diseases that advance our understanding of medicine and help us discover potential new treatments (www.findacure.org.uk).

He is a committee member of Rare Disease UK, the national alliance of rare disease groups in the UK, and of the International Rare Disease Research Consortium (IRDiRC). He is also is a founding member of the Cambridge Rare Disease Network and a member of the EURORDIS board of directors.

He is a fellow of the Ashoka fellowship of social entrepreneurs and of the Royal Society of Arts. He is the editor of ‘Rare Diseases: Challenges and Opportunities for Social Entrepreneurs’ (Greenleaf, 2013) and co-editor of ‘The Rare Diseases Patient Group Handbook’ (forthcoming). He is co-founder of the Vincent Foundation for brain injury and a former non-executive Director of GenSeq, a bioinformatics company.

Dr Sireau’s previous career was in international development, where he was CEO of SolarAid and Sunny Money, two award-winning non-profit social enterprises that he set up. Sunny Money is now the largest distributor of solar lanterns in Africa. He has also written several books on international aid.

Dr Sireau has a PhD in Social Psychology. His hobbies include writing novels and producing electronic music.

Dr Nicolas Sireau, Chairman of AKU Society and Findacure

SPEAKER PROFILES

Birgitte Volck, MD, PhD is, by 1 June 2016, Head of R&D, Rare diseases at GSK.

From 2012-2016 she was Chief Medical Officer and head of Development, leading Sobi’s portfolio of products and product candidates in rare diseases and speciality areas across hemophilia, inflammation, neonatology and genetics.

Furthermore, Birgitte held senior positions with Amgen, including Therapeutic Area Head, International R&D for Bone and Inflammation.

In addition, Birgitte held various senior medical affairs & R&D positions at Genzyme and Pharmexa. She has published a number of abstracts and papers on biochemical markers in arthritis, and is external lecturer at Copenhagen University.

Dr Birgitte Volck MD PhD,Head of R&D for Rare Diseases at GSK

Professor Lucy Raymond is Professor of Medical Genetics and Neurodevelopment at the Cambridge Institute for Medical Research. Her research goal is to characterise the genetic changes that are present in the DNA of individuals with intellectual disability, in order to understand the biological causes of these disorders. Her group conducts detailed analysis of the whole genome of individuals with intellectual disability and their families, identifying novel genes that contribute to intellectual disability. Professor Raymond leads several large-scale genome sequencing projects aimed at identifying genetic causes of rare diseases, and is also one of the leads for the ImagineID project, a long term study aimed at increasing understanding of the behaviour and mental health of children and young people who have intellectual disability due to a genetic cause. She is a Senior Lecturer at the University of Cambridge, and has been a consultant in medical genetics for over 10 years, providing clinical care at Cambridge University Hospitals.

Professor Lucy Raymond, Professor of Medical Genetics and Neurodevelopment, University of Cambridge

Did you know?

Approximately 50% of the

people affected by rare

diseases are children

Rare disease UK

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SPEAKER PROFILES

Kay Parkinson was the mother of two children who were diagnosed with the ultra rare disease Alström Syndrome when they were aged 18 & 15, having had four previous mis-diagnosis.

Both children died following heart and heart/kidney transplantations aged 25 and 29 respectively. She qualified as a lawyer in 1996 as a mature student, specialising in charity law.

In 1998 she founded the charity Alström Syndrome UK (ASUK). Kay served as their CEO for 15 years before stepping down in 2013 to start up Alström Europe (AS EU) charity.

In 2015 Kay joined the Cambridge Rare Disease Network as Chief Executive Officer. She believes all rare diseases need to work together for better diagnosis, treatments, services and a much needed higher public profile.

Kay Parkinson, CEO, CRON

Dr. Andy Richards, CBE has an established track record in founding and scaling up innovative Biotech and Healthtech companies in the UK. He is currently Chairman of Arecor, Congenica, Abcodia, and the Babraham Research Campus and is a Director of Ieso Digital Health, Silence Therapeutics plc, Cancer Research Technology (commercial arm of CR-UK), Cambridge Temperature Concepts, and Cambridge University Hospitals NHS Foundation Trust. He is an advisor to Cambridge Innovation Capital and the UCL Technology Fund.

His early career spanned positions with ICI (now AstraZeneca) and PA Technology, and he was a founder and executive director of Chiroscience plc. Since 1999 he has founded, invested in and helped to scale more than 25 innovative ventures including companies such as Vectura, Arakis, Cambridge Biotechnology Ltd and Geneservice. Andy is also a founder member of the Cambridge Angels and a trustee of the British Science Association.

Dr. Andy Richards CBE, Biotech Entrepreneur

Julie Walters, is the Founder and driving force of Raremark, which connects families affected by rare disease with up-to-date scientific information, community insights and clinical trials.

She has a first-class degree in molecular genetics from King’s College London and a background in popular journalism, including as a news editor on TV’s Good Morning Britain.

Outside Raremark, Julie is an area director with the Entrepreneurs’ Organization, which helps established entrepreneurs to learn and grow. She also serves as a trustee of the rare disease patient group Findacure.

Julie Walters, Founder and driving force of Raremark

Lydia Meyer-Turkson , MPhil MBA cofounded Locus Genetics Ltd around the need for clinically validated biomarkers of disease progression, drug safety and efficacy. The company is focused initially around a series of rare genetic diseases with an associated increased risk of cancer. The company has collaborations with the National Cancer Institute Bethesda to validate marker panels and access patient samples. Lydia has over 20 years of biomarker, diagnostic and cancer drug discovery commercial expertise at Epistem, Evotec and Quintiles and Becton Dickinson working in Europe and the US. Lately as Business Strategy Consultant for Horizon Discovery Ltd Lydia has been directly involved in setting up novel target discovery collaborations using CRISPR gene editing to find new drug targets for rare neurodegenerative diseases.

Lydia Meyer-Turkson MPhil MBA, CEO Locus Genetics Ltd

Did you know?

Around five new rare diseases

are described in medical

literature each week

Rare disease UK

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Healx is a social enterprise focused on identifying next-generation drug repositioning opportunities for rare and orphan diseases. Our unique model places patient groups and charities central in the development process. We believe in working hand in hand with them to develop a cure together. Healx uses state-of-the-art technology from Cambridge University. The combination of machine learning with advanced ‘Omic analytics allows us to identify hidden links between drugs and diseases. This approach selects drug repositioning candidates with a much higher probability of success, which has been validated in a number of different disease areas.

Visit websitewww.healx.io

PLATINUM SPONSOR

Horizon Discovery combines deep scientific experience in translational research with a precision gene-editing platform incorporating rAAV, CRISPR and ZFN technologies. Horizon supplies genetically-defined cell lines, in vivo models, custom cell line generation, molecular reference standards, and contract research services to over 1,000 academic, clinical and biopharmaceutical organizations.

SILVER SPONSOR

Visit websitewww.horizondiscovery.com

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Alexion is a global biopharmaceutical company focused on developing and delivering life-transforming therapies for patients with devastating and rare diseases. Patients with these life-threatening diseases often have no effective treatment options, and they and their families suffer with little hope. Our goal is to deliver medical breakthroughs where none currently exist. We are driven because we know people’s lives depend on our work.

As we continue to expand our operations into additional countries, Alexion is advancing the most robust rare disease pipeline in the biotech industry, with highly innovative product candidates in multiple therapeutic areas. Alexion is establishing a premier global metabolic rare disease franchise with two potential therapies in late-stage development for hypophosphatasia (HPP) and Lysosomal Acid Lipase Deficiency (LAL Deficiency, or LAL-D). In addition, as the global leader in complement inhibition, we are strengthening and broadening our portfolio of complement inhibitors across diverse platforms.

Alexion was established in the U.S. in 1992 and became a public company in 1996 (NASDAQ: ALXN). We were added to the NASDAQ-100 Index in 2011 and to the Standard & Poor’s 500 Index in 2012.

Sobi is a leading integrated biopharmaceutical company dedicated to bringing innovative therapies and services to improve the lives of rare disease patients and their families. Their research and product portfolio is primarily focused on haemophilia, inflammation and genetic and metabolic diseases. They market and make available across Europe, the Middle East, North Africa and Russia a portfolio of specialty and rare disease products for partner companies. They have world-class capabilities in protein biochemistry and biologics manufacturing development - validated by leading industry partners and manufacture the drug substance for the haemophilia treatment ReFacto AF/Xyntha® for the global market.

SILVER SPONSOR SILVER SPONSOR

Visit websitewww.alexion.com

Visit websitewww.sobi.com

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MRC Technology is an independent life science medical research charity committed to improving the odds of positive patient outcomes everywhere.

As a champion for human health, MRC Technology partners with academic, biotechnology, pharmaceutical, and charity organisations to move promising medical research forward into viable and accessible patient treatments. Our people combine commercialisation and IP management skills with diagnostic and drug discovery expertise, specialising in small molecule and therapeutic antibodies.

MRC Technology projects have led to the approved drugs Tysabri®, Actemra®, Entyvio® and Keytruda®, changing the lives of countless patients by harnessing the potential of science.

BRONZE SPONSORS

Raptor Pharmaceuticals (NASDAQ: RPTP) is a commercial-stage, global biopharmaceutical company committed to developing and commercializing life-altering therapeutics for orphan diseases. Our focus is to help patients with rare, debilitating, and potentially fatal diseases by leveraging our deep understanding of cellular metabolic pathways to develop medicines that address serious unmet medical needs.

Shire Pharmaceuticals Limited (Shire UK) is an indirect wholly owned subsidiary of Shire plc, a global specialty biopharmaceutical company that works closely with specialist physicians, nurses, pharmacists and other healthcare professionals to develop and market medicines that aim to improve quality of life for patients, their families and carers.

Visit websitewww.mrctechnology.org

Visit websitewww.raptorpharma.com

Visit websitewww.shire.com



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PARTNERS



Twitter: @camraredisease

Facebook: www.facebook.com/CambridgeRareDisease

LinkedIn: https://www.linkedin.com/groups/Cambridge-Rare-Disease-Network-8234547

Website: http://camraredisease.org/

Email: [email protected]


Documents

OFFICIAL EVENT SPONSOR International Rare Disease Summit 2016 · 2017. 4. 24. · CRDN Launch Event – ‘Parent Entrepreneurship’ Judge Business School, Cambridge Did you know?