Stevenage Bioscience Catalyst: annual lecture 2014
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Presentation by Sir Mark Walport at the first annual lecture of the Stevenage Bioscience Catalyst on 24 July 2014.
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Stevenage Bioscience Catalyst: annual lecture 2014
- 1. Stevenage Bioscience Catalyst 1st Annual Lecture 24 July 2014 Sir Mark Walport, Chief Scientific Adviser to HM Government
- 2. Role of the Chief Scientific Adviser to HM Government • Report to the Prime Minister and Cabinet • Responsible for the quality of all S&T advice across the whole of Government • Lead a network of departmental Chief Scientific Advisers • Head of the Science and Engineering Profession in the Civil Service • Supported by the Government Office for Science 2 Stevenage BioScience Catalyst 1st Annual Lecture (credit: Murat Taner / Getty Images)
- 3. Government Priorities • Wellbeing, health & resilience – including security and infrastructure • Knowledge translated to economic advantage • The right science for emergencies • Underpinning policy with evidence • Advocacy and leadership for science 3 Stevenage BioScience Catalyst 1st Annual Lecture (credit: Getty Images)
- 4. Knowledge to Growth Electric incandescent lighting by Edwin J. Houston and A. E. Kennelly 1896 www.openlibrary.org Thomas A. Edison (credit: KMJ/Wikimedia Commons) • Imagination • Innovation • Entrepreneurship • Business Skills • Manufacturing, branding, marketing and distribution 4 Stevenage BioScience Catalyst 1st Annual Lecture
- 5. 5 Stevenage BioScience Catalyst 1st Annual Lecture • Imagination • Innovation • Entrepreneurship • Business Skills • Manufacturing, branding, marketing and distribution We are good at these… …what’s holding us back? Knowledge to Growth
- 6. 6 Stevenage BioScience Catalyst 1st Annual Lecture • Imagination • Innovation • Entrepreneurship • Business Skills • Manufacturing, branding, marketing and distribution Catalysis TSB Technology transfer Regulation Capital markets Continuity of Funding Procurement and ‘good customers’ Standards Skills & Leadership Knowledge to Growth
- 7. Towards an integrated healthcare economy to accelerate medical innovation 7 Stevenage BioScience Catalyst 1st Annual Lecture Key Government players in implementing the UK Life Sciences Strategy: Industry NHSUniversities Clinical Research Working closely with : Better Regulation Executive
- 8. The Strategy for UK Life Sciences • A successful, competitive UK Life Sciences sector can improve the lives of UK patients, efficiency in the NHS, and benefit the UK economy contributing to long-term sustainable growth • Strategy for UK Life Sciences published alongside Innovation, Health and Wealth in December 2011. Core focus on: 1. Building a life science ecosystem 2. Attracting, developing and rewarding the best talent 3. Overcoming barriers and creating incentives for the promotion of health care innovation • Two years on: £2bn of investment announced by Life Sciences companies in UK 8 Stevenage BioScience Catalyst 1st Annual Lecture A vision to strengthen the health and life science sector through collaboration between academia, NHS and indusry
- 9. The UK Life Sciences Industry • UK has one of the strongest and most productive life sciences industries in the world - £50 bn turnover - ~6% of global sales • Nearly 5000 Life Sciences companies (inc non-manufacturing and service companies) employing ~175,000 people • 4 main sectors: Pharmaceuticals; medical technology (devices and diagnostics) and medical and industrial biotechnology 9 Stevenage BioScience Catalyst 1st Annual Lecture (credit: Sanger Institute)
- 10. Knowledge to Growth 10 Stevenage BioScience Catalyst 1st Annual Lecture Levers to support growth: There are three broad groups of Government financial support: Technology readiness levels (TRL)
- 11. Improving the effectiveness and impact of Government support for innovation• Use the right tool for the right job. • Working with Treasury and BIS to look at which of Government’s tools and support innovation work best in each context. • Looks at how Government spends on innovation by sector and by type of business support. • Vision for: – Open, accessible innovation system – Strong transmission between research and innovation • Will input to the BIS Science and Innovation Strategy Stevenage BioScience Catalyst 1st Annual Lecture11 All images: Wikimedia Commons
- 12. 12 Stevenage BioScience Catalyst 1st Annual Lecture Council for Science and Technology • CST is co-chaired by the Government Chief Scientific Adviser and Prof Dame Nancy Rothwell, President and Vice- Chancellor of the University of Manchester. • 20 members - Presidents of the National Academies (e.g. Sir Paul Nurse, Royal Society, and Sir John Tooke, Academy of Medical Sciences) are members ex officio. The Council for Science and Technology (CST) advises the Prime Minister on science and technology policy issues which cut across the responsibilities of government departments.
- 13. Council for Science and Technology Projects 13 Stevenage BioScience Catalyst 1st Annual Lecture The risks and benefits of GM technologies and what government can do to improve the quality of debate in the UK and Europe. The Age of Algorithms (2013) GM technologies (2014) The NHS as a driver for growth (2011) A report considering the NHS potential as a driver for growth, looking at issues including: procurement, culture change, and the implications of genomics and personalised medicines. The skills, partnerships and facilities needed to keep the UK in the forefront of the development of advanced algorithms. The council also suggests ways to incorporate their suggestions into the government’s strategy for the information economy.
- 14. Science Landscape Project • CST-led project to inform longer-term decisions. • Looking at innovative ways of gathering data on how disciplines link together in the modern research world. • Gathering evidence through a series of seminars from autumn 2014 – spring 2015. 14 Stevenage BioScience Catalyst 1st Annual Lecture
- 15. Data and Analytics Harnessing ICT: A national diabetes system for Scotland Total Scottish Population 5.2M People with diabetes : 251,132 (4.9%) People with Type 1 DM : ~27,000 (0.5%) All patients nationally are registered onto a single register; the SCI-DC register SCI-DC used in all 38 hospitals Nightly capture of data from all 1043 primary care practices across Scotland Courtesy of Andrew Morris 15 Stevenage BioScience Catalyst 1st Annual Lecture
- 16. 16 •Stevenage BioScience Catalyst 1st Annual Lecture PercentageofPatients Data recorded within the previous 15 months http://www.diabetesinscotland.org.uk/Publications/SDS%202010.pdf Courtesy of Andrew Morris Scottish Diabetes Survey – over 90% capture of key variables since 2007 Recording of Key Biomedical Markers
- 17. Diabetes Care 2008Diabetic Medicine 2009 Courtesy of Andrew Morris Improved clinical outcomes 17 Stevenage BioScience Catalyst 1st Annual Lecture
- 18. • In the USA, preventable medical errors are the third leading cause of death (440,000 per year – Journal of Patient Safety, 2013). Data analytics can identify and address the underlying causes. • Countries all around the world are currently wrestling with the same issue of how to share medical data while protecting privacy. • We need to be more open with people on how their data may and may not be used, and communicate the benefits. On care.data… “This information helps us identify the causes of cancer and heart disease; it helps us to spot side-effects from beneficial treatments, and switch patients to the safest drugs; it helps us spot failing hospitals, or rubbish surgeons; and it helps us spot the areas of greatest need in the NHS. Numbers in medicine are not an abstract academic game: they are made of flesh and blood, and they show us how to prevent unnecessary pain, suffering and death.” Ben Goldacre, Guardian 21 February The challenge of communicating the benefits: care.data •Stevenage BioScience Catalyst 1st Annual Lecture18 Stevenage BioScience Catalyst 1st Annual Lecture
- 19. Internet of Things Healthcare Smart Meters Transport Physical Object + Controller, Sensor and Actuators + Network + Data Analytics = IoT 19 Stevenage BioScience Catalyst 1st Annual Lecture • Internet of Things (IoT)is about everyday objects having sensors in them, which detect various kinds of data and transmit the information elsewhere. • IoT can help deliver key public services more efficiently and use scarce government resources more effectively. (credit: google) (credit: Hyginex) (credit: ComEd) (credit: Masimo) (credit: HiKoB) (credit: jamieonline) (credit: Vigilant)
- 20. Internet of Things -Healthcare 2020 theiotcloud.com 20 Stevenage BioScience Catalyst 1st Annual Lecture
- 21. Internet of Things – Challenges Privacy, Security and Ownership • Large amount of revealing data • Who owns the data? • Security of personal data • Security of safety critical systems Interoperability and Standards • Different devices, manufacturers, connections • No interoperability incentive for large companies • Competing standards Spectrum • Frequency • WiFi, Bluetooth, Zigbee • Short vs. long range • High vs. low power consumption • Licensed vs. unlicensed spectrum 21 Stevenage BioScience Catalyst 1st Annual Lecture (credit: Nokia) (credit: PD) (credit: noolwlee / Shutterstock)
- 22. Genomics England and the power of DNA data – step changes in genomics Evolution of medicine and healthcare: How the UK plays a leading role 1911 1953 Since 2003 First gene map Structure of DNA discovered First human genome sequenced (credit: Wellcome Library, London)(credit: Wellcome Library, London) 22 Stevenage BioScience Catalyst 1st Annual Lecture
- 23. 1911 The human genome project (credit: Dan Mason) (credit: Miguel Andrade) (credit: U.S. Defense Imagery) (credit: Sjef) 23 Stevenage BioScience Catalyst 1st Annual Lecture
- 24. Developments in sequencing can track the transmission of disease 24 Stevenage BioScience Catalyst 1st Annual Lecture (credit: Jake Berenguer (U.S. Navy))
- 25. From data to knowledge to societal benefi 25 Stevenage BioScience Catalyst 1st Annual Lecture
- 26. Challenges and opportunities 26 Stevenage BioScience Catalyst 1st Annual Lecture
- 27. Combining large numbers of human sequences with medical data can drive further developments 100,000 genomes in 5 years Infectious disease (credit: NIAID) 27 Stevenage BioScience Catalyst 1st Annual Lecture (credit: Axelrod FB, Gold-von Simson G/CC BY 2.0)
- 28. The project will face significant challenges and overcoming these will drive developments (credit: Images_of_money) (credit: torkildr) (credit: Army Medicine) (credit: jurvetson) (credit: National Data Centre) 28 Stevenage BioScience Catalyst 1st Annual Lecture
- 29. Four key ingredients for successful innovation Catalysis Collaboration Continuity of funding Co-location All images: Wikimedia Commons 29 Stevenage BioScience Catalyst 1st Annual Lecture
- 30. Every effort has been made to trace copyright holders and to obtain their permission for the use of copyright material. We apologise for any errors or omissions in the included attributions and would be grateful if notified of any corrections that should be incorporated in future versions of this slide set. We can be contacted through enquiries@bis.gsi.gov.uk . Stevenage BioScience Catalyst 1st Annual Lecture Sir Mark Walport, Chief Scientific Adviser to HM Government
Notes de l'éditeur
- The Structural Genomics Consortium (SGC) is a not-for-profit public-private partnership to conduct basic science. Its main goal is to determine 3D protein structures which may be targets for drug discovery. Once such targets are discovered, they are placed in the public domain. By collaborating with the SGC, pharmaceutical companies save money by designing medicines that they know will ‘fit’ the target. The SGC was initiated through funding from the Wellcome Trust, the Canadian Institute of Health Research, Ontario Ministry of Research and Innovation and GlaxoSmithKline. More recently other companies (Novartis, Pfizer and Eli Lilly) have joined this public-private partnership. The group of funders recently committed over US$50 million to fund the SGC for another four years. OTHER EGs InnoCentive is a service for problem solving through crowdsourcing. Companies post challenges or scientific research problems on InnoCentive’s website, along with a prize for their solution. More than 140,000 people from 175 countries have registered to take part in the challenges, and prizes for more than 100 Challenges have been awarded. Institutions that have posed challenges include Eli Lilly, NASA, nature.com, Procter & Gamble, Roche and the Rockefeller Foundation. Rolls-Royce University Technology Centres Imanova is an innovative alliance between the UK’s Medical Research Council and three London Universities: Imperial College, King’s College and University College. It trains scientists and physicians, and hopes to become an international partner for pharmaceutical and biotechnology companies. Syngenta The Technology Strategy Board and Syngenta are building a system that helps scientists visualise the similarities between the molecules in ChEMBL, an openly accessible drug discovery database of over one million drug-like small compounds, and those in their own research.
- The Structural Genomics Consortium (SGC) is a not-for-profit public-private partnership to conduct basic science. Its main goal is to determine 3D protein structures which may be targets for drug discovery. Once such targets are discovered, they are placed in the public domain. By collaborating with the SGC, pharmaceutical companies save money by designing medicines that they know will ‘fit’ the target. The SGC was initiated through funding from the Wellcome Trust, the Canadian Institute of Health Research, Ontario Ministry of Research and Innovation and GlaxoSmithKline. More recently other companies (Novartis, Pfizer and Eli Lilly) have joined this public-private partnership. The group of funders recently committed over US$50 million to fund the SGC for another four years. OTHER EGs InnoCentive is a service for problem solving through crowdsourcing. Companies post challenges or scientific research problems on InnoCentive’s website, along with a prize for their solution. More than 140,000 people from 175 countries have registered to take part in the challenges, and prizes for more than 100 Challenges have been awarded. Institutions that have posed challenges include Eli Lilly, NASA, nature.com, Procter & Gamble, Roche and the Rockefeller Foundation. Rolls-Royce University Technology Centres Imanova is an innovative alliance between the UK’s Medical Research Council and three London Universities: Imperial College, King’s College and University College. It trains scientists and physicians, and hopes to become an international partner for pharmaceutical and biotechnology companies. Syngenta The Technology Strategy Board and Syngenta are building a system that helps scientists visualise the similarities between the molecules in ChEMBL, an openly accessible drug discovery database of over one million drug-like small compounds, and those in their own research.
- Recent investments include: GSK investing over £500m in the UK across its manufacturing sites – including Ulverston in Cumbria and Montrose and Irvine in Scotland AstraZeneca confirming the UK as its international HQ and R&D base through its move to Cambridge, will invest £120 million in its global manufacturing site in Macclesfield Fujifilm Diosynth Biotechnologies officially opened a new biotechnology manufacturing facility in Billingham as part of a £30m investment drive. The Centre for Therapeutic Target Validation, a new public-private initiative between GSK, the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, was announced in March 2014
- Research Partnership Investment Fund £300 million fund to invest HE research facilities. HEIs are required to secure at least double the RPIF award from non-public sources. Managed by HEFCE, working in collaboration with devolved administration. Proposals assessed by an independent panel. Almost £123 million allocated to 11 life science projects. Involves 9 HEIs covering cancer research, diabetes, stratified medicine & advanced drug manufacturing techniques. E.g. The Cambridge Institute of Therapeutic Immunology and Infectious Disease: to drive therapeutic breakthroughs in immune-related diseases; to explore new strategies for the control of globally important pathogens; and to increase the likelihood of discovering important, high-value, new medicines in the UK. Effort will be in autoimmune and inflammatory disease – for example Type 1 diabetes and inflammatory bowel disease – and antimicrobial resistance. Value of project: £87.7 million. Co-funding: £62.7 million. UKRPIF award: £25 million.Partners: The University of Cambridge with AstraZeneca/MedImmune, GlaxoSmithKline, UCB/Celltech, Kymab and the Wellcome Trust. Regional Growth Fund £3.2 bn fund operating across England from 2011 to 2017 Support projects and programmes that are using private sector investment to create economic growth and sustainable employment. Government has committed over £57 million of RGF funding to 21 projects in the life science sector, leveraging an additional £329.9 million of additional funding. The projects are expected to create or safeguard nearly 2,200 jobs. E.g. Surgical Innovations, Leeds (RGF 2) (SME, med tech, R&D). Surgical Innovations specialises in the design and manufacture of creative solutions for minimally invasive surgeries (MIS), including regenerative orthopaedic & arthroscopic surgery. They have secured RGF funding to build a new centre for specialist R&D and clinical training in the Leeds area. MIS is a growing market with multiple benefits for hospitals and patients - discomfort, the risk of complications and recuperation time are all reduced, benefiting the patient and reducing costs. Biomedical Catalyst Joint £180m Technology Strategy Board & Medical Research Council programme Makes awards to innovative SMEs & academics looking to work either individually or in collaboration to develop solutions to healthcare challenges. To date, 226 awards totalling more than £170 million from the Biomedical Catalyst, matched by an additional £97m of private investment. E.g. More than 70 cutting edge research projects have been chosen in the latest stage (June 2014) of Biomedical Catalyst funding. They include a revolutionary blood test to identify Alzheimer’s, a potential new gene therapy for Parkinson’s Disease, a new approach for treating cancerous tumours, and a wearable blanket providing light therapy for jaundiced newborns or conditions such as psoriasis.
- What is the IoT – Defintion Healthcare IOT has potential to revolutionise healthcare – focus on early identification. Now: Clinical Care – constant monitoring of vital signs for hospitalised patients. Means health professionals do not need to keep checking vital signs. Example of this: Masimo Radical-7. Health monitor that collects patients data then transmits wirelessly. Early intervention/prevention – monitoring of everyday activities and sending alert when something is wrong. Especially useful for ageing population. E.g. Sonamba daily monitoring solution. Strategically placed sensors to monitor daily activities and report anomalies to care provider/family members via mobile phone. Insulin injection trackers – Swiss company Vigilant has developed this. Electronic cap that fits onto insulin pens which wirelessly transmits injection data to smartphone app. Simple things such as hand washing. Staff wearing badges that register use of soap/sanitiser dispensers. Transport Most well known – parking sensors. Parking sensors. Can download an app onto your phone that shows you where the parking spots are. Can also pay for parking via the app. HiKoB road sensors – small, low-power, wireless sensors imbedded in roadway to measure things like temperature, humidity and traffic monitoring. Enables prioritisation of road maintenance. Data can also be used to alert drivers of potential hazards – road signs/traffic signals. Autonomous vehicles are currently being designed – Google Self Driving Car is example.
- Complete remote patient monitoring – variety of non-intrusive sensors in the body to monitor heart rate, blood pressure, blood intoxication. Cardiac issues especially would be early identifiable. EG Arrhythmias, hypoxemia. Could start putting ingestible sensors on prescription pills to track that a patient is taking their medication at the right times and the right amounts. There are sensors being developed that are ingested and can predict the chances of becoming ill. Next step for hand-washing sensors – automatic reminders to staff passing by without hand-washing. Step between now and then is a move between monitoring and prevention.
- Privacy The IOT will mean that a lot of data is being created about people which can reveal a lot about their preferences and behaviour. And data brings about concerns of privacy, ownership and security for consumers and manufacturers. People will want to know how the data they are creating is being used and may wish to opt out. They can only do this if the data belongs to them which brings about the question - who owns the data collected by the IOT? Much data will involve a number of people and organisations – for example medical data will be created by an individual, seen and used by healthcare professionals, and stored by hospitals. There is value to be had from exploiting data – but this can only be used by the person who owns it. People may also want to opt out due to concerns about security. The IOT could generate highly sensitive personal data which people will not want being stolen. Furthermore, the IOT will be used to support safety critical systems, such as hear pacemakers, which could have catastrophic results if the system is hacked into. Interoperability In the sense of the IOT, interoperability is the ability for different devices created by different manufacturers and using different connections to work and communicate with each other. Without this, the full potential of the IOT will not be realised. Currently, the IOT is fragmented and different solutions are not able to connect easily with each other. Devices or equipment made by different manufacturers cannot integrate, devices have an inability to run on the same operating systems, and even sometimes, simply different versions of the same device cannot communicate with each other. The problem we face is that technology companies, especially the ‘giants’, have their own operating systems, equipment and protocols and don’t have much of an incentive to create interoperability between them. One way to change this would be to create standards for companies to adhere to. Of course the question follows – what should these standards be and who should create them…? Spectrum The issue of spectrum in the Internet of Things is looking at what frequency it will be using to communicate its data. Wireless networks such as WiFi, Bluetooth and ZigBee are all being used to connect IOT devices currently available but each of these have a fairly short range. Wide area networks, such as 3G and 4G, could also be used but have the disadvantage of having high power consumptions. In the ideal world, the IOT will run on it’s own wide area, low energy network. The question of whether there is enough space on the unlicensed spectrum for the IOT is another question – although a lot of the data will have low levels of granularity, the sheer amount of this data will be huge.
- KEY MESSAGES: Scientific developments in our understanding of human genetics drive developments in healthcare and medicine. The human genome project marked a step-change in our understanding of human biology: the 100,000 genome project has the potential to be another important milestone. Projects like the human genome project and the 100,000 genome project are complex and demanding but the effort is outweighed by the positive consequences for healthcare and quality of life. These projects have and will make the UK a world-leader in genomics and genetics but maximising on the potential of these developments requires innovations in the NHS and the ways that healthcare is provided. In 1911 Alfred Sturtevant, an undergraduate made the first genetic map showing the relative locations of genes in the fruit fly. Image 1: historical map showing location of genes in Drosophila In 1953 Watson and Crick described the structure of DNA. Image 2: part of Crick’s notebook detailing structure of DNA In April 2003, 92 years after the first gene map and 50 years after the structure of DNA was described, the first full human genome sequence showing the location and coding of all of the genes in the human genome was completed and published. This marked a step-change in our understanding of human genetics and the basis of many diseases. [You may wish to link this to 2003 being the year you took over as Director of the Wellcome Trust]. Image 3: Published Genome-Wide Associations through Q1/2013 Published GWA at p≤5X10-8 for 17 trait categories
- Sequencing the human genome drove huge developments in: sequencing technology (image of sequence trace) data sharing - open access to human genome data via specialist databases which was agreed during meeting in Bermuda – known as the Bermuda principles (image of Bermuda) the expertise of scientists in bioinformatics (data analysis, genome assembly, identification of genes, etc) (sequence alignment) ethics
- Whole-genome sequencing for analysis of an outbreak of meticillin-resistant Staphylococcus aureus: a descriptive study Simon R Harris PhD a , Edward JP Cartwright MBBS b d , M Estée Török FRCP b d e, Matthew TG Holden PhD a, Nicholas M Brown MD d e, Amanda L Ogilvy-Stuart FRCP e, Matthew J Ellington DPhil d, Michael A Quail PhD a, Stephen D Bentley PhD a, Prof Julian Parkhill PhD a †, Prof Sharon J Peacock FRCP a b c d e † Summary Background The emergence of meticillin-resistant Staphylococcus aureus (MRSA) that can persist in the community and replace existing hospital-adapted lineages of MRSA means that it is necessary to understand transmission dynamics in terms of hospitals and the community as one entity. We assessed the use of whole-genome sequencing to enhance detection of MRSA transmission between these settings. Methods We studied a putative MRSA outbreak on a special care baby unit (SCBU) at a National Health Service Foundation Trust in Cambridge, UK. We used whole-genome sequencing to validate and expand findings from an infection-control team who assessed the outbreak through conventional analysis of epidemiological data and antibiogram profiles. We sequenced isolates from all colonised patients in the SCBU, and sequenced MRSA isolates from patients in the hospital or community with the same antibiotic susceptibility profile as the outbreak strain. Findings The hospital infection-control team identified 12 infants colonised with MRSA in a 6 month period in 2011, who were suspected of being linked, but a persistent outbreak could not be confirmed with conventional methods. With whole-genome sequencing, we identified 26 related cases of MRSA carriage, and showed transmission occurred within the SCBU, between mothers on a postnatal ward, and in the community. The outbreak MRSA type was a new sequence type (ST) 2371, which is closely related to ST22, but contains genes encoding Panton-Valentine leucocidin. Whole-genome sequencing data were used to propose and confirm that MRSA carriage by a staff member had allowed the outbreak to persist during periods without known infection on the SCBU and after a deep clean. Interpretation Whole-genome sequencing holds great promise for rapid, accurate, and comprehensive identification of bacterial transmission pathways in hospital and community settings, with concomitant reductions in infections, morbidity, and costs. Funding UK Clinical Research Collaboration Translational Infection Research Initiative, Wellcome Trust, Health Protection Agency, and the National Institute for Health Research Cambridge Biomedical Research Centre.
- Since the human genome project, there have been further evolutions in sequencing technology, not just for humans, but also for pathogens. Multiple bacterial genomes can be sequenced in a single run of the sequencing machine. Rather than over a decade, sequencing a human genome now only takes a few days. But these developments are accompanied by ethical issues. In 2012, a study was published in which an entire foetal genome has been sequenced from a sample of maternal blood. Developments such as this underpin the need for ethics to keep up with scientific development. (Ultrasound of foetus)
- The 100,000 genomes project was launched in December 2012. The project is being run by Genomics England and is funded by the Department of Health. The project will sequence up to 100,000 people or infections within 5 years. Sequencing the whole genome allows a huge range of genetic differences both within coding and non-coding DNA to be identified. The sequencing will be focussed on cancers (lung and paediatric), rare diseases and infectious diseases. Combining the sequence data with medical records offers the potential to revolutionise our understanding of the genesis and treatment of some diseases. Linking sequence data with medical information about the patient gives real power to the dataset. Rare diseases –Kyphoscoliosis in a 10-year-old girl with HSAN III. Familial dysautonomia (also called hereditary sensory and autonomic neuropathy, type III|) is an autosomal recessive genetic disorder caused by mutations in the IKBKAP gene. The condition affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells. 80% of rare diseases are genetic and half of all new cases are found in children. <5% of the population or about 5/10,000 people 3 million people in the UK 7000 rare disorders- often disabling, shorten life, costly Circa 85% have a single gene defect Testing for >700 disorders extant within the NHS <1/4 of known disease genes. Whole genome sequencing – 25% increase in discovery & diagnostic Will sequence both patients and close relatives Cancer (X-ray of lungs showing potential cancer) Lung Cancer -40 000 cases/year in the UK, (35K die/year) Therapies modestly effective only applicable to 10-15% of patients - CRUK Stratified Medicine’s initiative Breast, colon, prostate, ovary and unknown primary Rare and Childhood Cancers Drugs target mutations Tumour heterogeneity Pathogens (picture of scanning electron micrograph of Mycobacterium tuberculosis bacteria) Stratifying response, minimising adverse events and tracking outbreaks M. Tuberculosis resistance and epidemiology Hepatitis C genotype selects therapy HIV –Treatment for life and resistance testing is in the care pathway. Extreme human response to sepsis
- The scale of the challenge is huge. To be successful, the project will need: - Significant funding (£100m funding over the next 5 years) (picture of £1 coins) -State of the art sequencing technology with increased capacity, that provides high quality sequence data more cheaply (picture of sequencing machines) -New ways of identifying suitable patients and an infrastructure to support sampling, e.g. protocols to collect and transport suitable samples, for example tissue samples from cancers. (Picture of surgery demonstrating that some samples like cancer samples will need to be taken during surgery) -Suitable storage and analysis techniques to process and extract meaning from the wealth of data that will be generated through this sequencing. (Picture of computer server) -Workforce training – scientists; bioinformaticians; medics; clinical scientists (picture of training course) -Consider the ethics of the project. Patients involved will need to make informed consent. Participants may have concerns over allowing commercial companies to access the data but this is necessary to drive developments. (Picture of 12th century byzantine manuscript showing the hippocratic oath) -Access of researchers to the data will need to be done securely – e.g. via a secure datalink.
- But four key ingredients for successful innovation emerging from the review. These ‘4 Cs’ evident in Stevenage BioScience Catalyst – a vibrant cluster that supports all these things: Unrivalled incubation facilities for the progression of frontier research In an open innovation environment which is optimised for working with industry Which should accelerate the progression of these projects for economic and health benefit