Annual Report and Accounts 2012 – 2013 Annual Report and Accounts

Welcome to our Annual Report and Accounts for 1 April 2012 – 31 March 2013

We have written this year’s report Contents to be as accessible to as many About us 3 people as possible. In the first half Chair and Director’s letter 4 of the report, we have included Highlights of the year 5 an overview of our achievements Health service development 6-8 in this year and our plans for the Rare diseases 9 future. In the second half of the Information and support 10 report is the trustees’ report, our Championing biomedical science 11 financial statements and accounts Access to medicines 12 Working in Europe 13 for the year. Looking ahead to 2013 - 2014 14 Trustees’ annual report 15-16 Treasurer’s letter and financial review 17 Independent auditor’s report 18-19 Statement of financial activities 20 Balance sheet 21 Notes to the financial statements 22-28 Acknowledgements 29 Membership 30-31

2 Genetic Alliance UK Genetic Alliance UK

About us There are over

Genetic Alliance UK is the We are the only organisation in national charity of over the UK that provides a voice for all 6,000 160 patient organisations patients and families affected by genetic conditions on a European, UK different genetic supporting all those affected by and devolved nation level. genetic conditions. Our aim is conditions to improve the lives of people About genetic conditions affected by genetic conditions, Genetic conditions are life-long ensuring that high quality and serious illnesses, affecting 4 out of every services and information are multiple systems of the body. Many available to all who need them. are progressive, meaning affected individuals lose their health, quality of What we do life and may die prematurely. Currently, few genetic conditions can be cured, b a i e s Supporting: We seek to raise and few have effective treatments; but 100 born in the UK have awareness of genetic conditions and all individuals and their families need improve the quality of services and appropriate care and support, as well a genetic condition information available to patients and as timely and accurate diagnosis. families. Patients and families with genetic Campaigning: We actively campaign conditions often have a high level of on behalf of those with genetic unmet need. conditions on issues of policy and It is vital that medical research sheds light 6 out practice to influence governments, on these conditions in order to develop policy makers, industry and care effective interventions and therapies and providers such as the NHS. that they are made available to patients of 10 PEOPLE Uniting: We provide a united voice as soon as possible, with appropriate for all those affected by genetic care and support, to improve health and are likely to develop a conditions, enabling us to work save lives. disease that is partially together towards the common goal genetically determined of making life better for patients and families at risk. by the age of 60

Annual Report and Accounts 2012 - 2013 3 From the Chair and the Director

Letter from the Chair and the Director

2012 – 2013 has been a very busy Other noteable achievements this year for us, and we are proud of our year include we were one of the work and our achievements. first patient groups to sign up to the AllTrials campaign calling on We are particularly proud that we greater transparency for clinical trial influenced and campaigned for data. We were runners up in the changes within the reorganisation GlaxoSmithKline and King’s Fund of commissioning NHS specialised IMPACT awards this year, meaning services in England, and supported we were in the top 20 charities from our member groups to be centrally over 400 entries. It is great to receive involved in shaping the services for recognition of our work and our their own conditions. efforts. We are delighted to have published Finally, we are now an alliance of Christopher J Friend our Route Maps Toolkit this year. Route 162 patient groups, uniting those Chair Maps can improve information as well affected by genetic conditions across as coordination of health and social the UK. Our aim is to keep growing care for people with rare genetic our membership numbers, and to keep conditions, and the Toolkit will enable improving how we work with our patient groups to devise their own members. condition-specific Route Map, which in turn will support many more patients Looking ahead, next year promises and families. to be a busy and exciting year. We look forward to working actively with This year saw the Scottish Government members, supporters and friends as announce the creation of a ‘Rare we continue to Support, Campaign Disease Drug Fund’. It followed a and Unite on behalf of all those great deal of work in partnership with affected by or at risk from genetic other organisations and many of our disorders. We thank our members and Alastair Kent member groups and families based in all our partners for your support, and Director Scotland. We look forward to seeing we look forward to working with you the initiative providing medicines that in 2013 - 2014. will help many people.

4 Genetic Alliance UK Highlights of the year

Highlights of the year • Earl Howe, Minister for Health • Our membership on the Ethics & • Charity of the Year at announcing the establishment of the Governance Team on the Prime Genzyme Haverhill Rare Disease Stakeholder Forum at Minister’s 100,000 genome project • 162 member groups – our parliamentary reception • Two SWAN UK family days our largest number ever • Publication of a fair and equitable for families of children with • The Scottish Government All-England Commissioning undiagnosed genetic conditions announcing the creation of a Policy for preimplantation • 350,000 unique visitors to ‘Rare Disease Drug Fund’ genetic diagnosis our websites

• 0.8k Investment income

• 112.8k Voluntary income

Income

571.4k • 721k • 36k Other Charitable activities

• 39.6k Expense Governance

 613.6k • 678.5k • 25.3k Charitable Generating activities voluntary income

Annual Report and Accounts 2012 - 2013 5 Health service development

Health service development

Genetic Alliance UK advocates We also responded to the Children To support patients, families and for improved health services, and Young People’s Health Outcomes patient groups in responding to the we support the acceleration Framework. We drew on the real-life Clinical Reference Groups’ Service experiences of families of children Specifications and Commissioning of scientific innovations into with undiagnosed genetic conditions Policies public consultation, we healthcare that will make a around issues of communication, produced free webinars full of helpful difference in peoples’ lives. equity and respect; giving decision- information. No other organisation makers a sense of the difference that from the public, private or voluntary NHS England reorganisation the Framework could make to families sector provided as much support or if used effectively. advice to help with this consultation. This year we have been actively Our webinars were viewed over 450 influencing the decisions regarding the Specialised services in England times, and feedback from users was reorganisation of the NHS in England, overwhelmingly positive. ensuring that people with rare A major change for the NHS in and genetic conditions are treated England from April 2013 was the Our Director is vice chair of NHS equitably and are able to access the change to national commissioning England’s Public and Patient services that they need. of specialised services. Detailing the Engagement Steering Group and England-wide Service Specifications we influenced NHS England’s We responded to NHS England’s and Commissioning Policies were engagement with patients and patient (previously the NHS Commissioning multidisciplinary groups of clinical groups. We are pleased that from Board) draft mandate, emphasising staff, commissioners and patient or summer 2013, there will be up to four that the intended Outcomes patient group representatives called PPE members on each of the Clinical Framework should provide an Clinical Reference Groups. Reference Groups, strengthening the equitable record of patient outcomes patient voice in the NHS. across the NHS, covering areas We worked hard to nominate and beyond access and socio-economic support our own members for the We are also a member on NHS issues. We were clear in stating that Clinical Reference Groups’ patient and England’s National Commissioning the Framework should not marginalise public engagement (PPE) places. Over Board’s ad hoc Clinical Priorities and disadvantage patients with one-third (40 out of 112) of the PPE Advisory Group. This committee complex, rare and undiagnosed members for 2012-2013 were from had the responsibility of determining conditions. our member groups, giving people national commissioning priorities of with genetic conditions the chance to specialised services for all of England. shape and influence the specialised services they need.

6 Genetic Alliance UK Health service development

Daniel and Sophia Nicholls

Developing non-invasive Preimplantation genetic ‘I think we would prenatal diagnosis services diagnosis – access for families have had a lot more The technology to allow non-invasive across England heartache if PGD had prenatal diagnosis (NIPD) for a range From April 2013, preimplantation not been an option. I of single gene disorders including genetic diagnosis (PGD) will be Down’s syndrome is advancing nationally commissioned in England. wouldn’t swap a day rapidly, and gauging the opinions Through our PPE role on the Medical of our lives; it’s been a of women who have or are likely to Genetics Clinical Reference Group, we use it, to inform its use is important. advocated for a Commissioning Policy real blessing’ We asked patients and healthcare that is fair and equitable, bringing an Susanna Nicholls, a carrier of professionals what they want from end to the postcode lottery. SMA type 1. Her son Daniel such a health service. We have been the leading patient also has SMA1, and her Our research showed that women group advocating for the availability of daughter Sophia was conceived are extremely positive about a test PGD for families with serious genetic with the help of PGD. that is both diagnostic, non-invasive, conditions for many years. We and, in many cases, provides early successfully lobbied for the legislature reassurance in pregnancy. Our during the passage of the Human “Thanks for the advice research concluded that successful Fertilisation and Embryology bill in introduction of NIPD into routine 2008. Since 2009 we have provided Genetic Alliance UK prenatal care will require guidelines the Human Fertilisation and Embryology has provided on the and counselling strategies which Authority (the government regulator) NHS consultation, it ensure women are offered this test in a with 111 statements of opinion for way which is appropriate, informative condition-specific licence applications was very useful.” and safeguards informed consent. for PGD. This year, we submitted 31 Ataxia UK statements, meaning families affected by these conditions are now benefitting from this technology. Over the past year, we estimate nearly 200 families have benefitted from PGD, enabling them to have a child that is free from the serious genetic condition affecting their family.

Annual Report and Accounts 2012 - 2013 7 Health service development

Genome sequencing of Family Risk, Common Cancers and programmes for various genetic 100,000 patients in the UK People from Minority Ethnic Groups’, conditions including: familial funded by the Big Lottery Fund and hypercholesterolaemia and newborn When the Prime Minister announced the University of Nottingham. We screening programmes for severe in December 2012 that up to investigated the barriers facing people combined immunodeficiency disease 100,000 patients with cancers and from minority ethnic groups with a (SCID), Tay-Sachs disease, Canavan’s rare diseases in the UK would have significant family history of cancer in disease and familial dysautonomia. their genomes sequenced as part of accessing clinical genetics services. Our take-home message to the UK a huge effort to drive cutting-edge The main barriers to accessing National Screening Committee medical science into the health-care health services included language, was that for rare genetic conditions system, we were keen to see that this cultural sensitivity and stigma, and the value of an intervention may would deliver real benefits to patients social standing. We produced be understood by the impact of its and to the NHS. recommendations for NHS medical absence. While the criteria used Our Director is one of the few patient genetics service providers and by the Committee are invaluable, group representatives invited by the commissioners. The recommendations our message was clear that the Chief Medical Officer to be a member will also be used by the communities criteria as they stand discriminate of the Ethics and Governance Team. themselves to raise awareness and against rare genetic conditions This is a tremendous opportunity advocate from their own perspective. because of their rarity. This is both for us to influence the advance of unfair and a disadvantage for their personalised medicine to benefit Screening to diagnose genetic potential inclusion in future screening families with rare genetic conditions conditions programmes. through more accurate diagnosis and Screening programmes are essential We are the patient group member tailored treatments and interventions, diagnostic tools for genetic conditions on the Newborn Screening Board improving health and saving lives. and save lives. Across the UK, in Wales. This year we worked NHS screening programmes are alongside NHS Wales to ensure Increasing access to health delivered differently through the that medium-chain acyl-CoA services for people from ethnic devolved nations, but policy and dehydrogenase deficiency (MCADD) communities recommendations for practice are screening was introduced in summer coordinated by the UK National 2012 and that sickle cell screening Reducing barriers to accessing health Screening Committee. will begin in summer 2013. services for genetic conditions is a key priority. This year we completed This year, we responded to our research study ‘Ethnicity & Access: several consultations on screening

8 Genetic Alliance UK Rare diseases

Rare diseases Our campaign dedicated to receptions to raise awareness of our improving healthcare for the campaign. 3.5 million people living with At Westminster we launched a rare disease in the UK has our report on the value of care gone from strength to strength, coordinators for rare diseases. The reception was hosted by Liz Kendall and this year was its most MP and the Minister for Health, productive yet. By March 2013, Earl Howe, attended and accepted Rare Disease UK’s membership the report and its findings. At our was at 1,300. reception, the Minister announced that the Department of Health Spring 2012 saw the four UK health would be launching a Rare Disease departments jointly publish the Stakeholder Group to further inform consultation for the National Plan for the development of the Rare Disease Rare Diseases. We dedicated our National Plan. efforts to helping the rare disease community respond to the consultation At Edinburgh we launched our report and deliver a clear message on the on the experiences of patients and issues that mattered to them. families with rare diseases living in Scotland. Our evening reception was We hosted a series of free events, sponsored by Malcolm Chisholm MSP in England, Northern Ireland, and attended by the Health Minister Scotland and Wales where 250 Alex Neil MSP. people attended. We provided 80% information, shared expert opinion In Cardiff we launched our report of rare diseases and encouraged people to make their on the experiences of patients and own responses. We also produced a families with rare diseases living in are genetic series of free interactive webinars with Wales. The reception was sponsored live question and answer sessions, by Mark Drakeford AM, who has downloaded over 400 times; and since become Health Minister for the published briefing documents, Welsh Government. downloaded over 1,400 times. We

Our activities in Northern Ireland p eo pl e received fantastic feedback on the continue to flourish as a part of 1in17 events, webinars and the supporting the Northern Ireland Rare Disease will be affected by a material. Partnership. This year, an all-Ireland rare disease The four UK governments received event was held in Dublin, organised over 350 consultation responses. alongside a group of Irish charities. Northern Ireland Health Minister In our analysis of the responses it ‘This was very useful, was reassuring to see consensus on Edwin Poots spoke at the event. the major issues. In the year ahead, Approximately 600 people attended not only in helping me we will be concentrating our efforts the four events, demonstrating the to write a response to to ensure the four UK governments enthusiasm and support for our the consultation but publish a National Plan for Rare campaign. Alongside our members Diseases that can deliver better health we lobbied politicians, keeping up also as a networking services and care. the political pressure to ensure that the occasion. Many thanks National Plan, when it is published Rare disease day – in 2013, is as comprehensive as it for this opportunity and 28 February 2013 needs to be for the NHS is to be able for leading the way.’ to respond effectively to the legitimate Trustee, Batten Disease Family This year’s theme was ‘Rare Disorders needs of rare disease patients and Association. Without Borders’, and we focused our their families. activities on a series of parliamentary

Annual Report and Accounts 2012 - 2013 9 Information and support

Information and support

Route Maps for rare conditions SWAN UK brings families together – to everyone who has fundraised for us sharing experiences, information and this year. Many patients and families with rare supporting each other. At the end of this We have also been working with families genetic conditions have difficulty in year, we have 560 registered members to inform and influence healthcare planning and coordinating their care, and over 800 members using our thriving professionals and policy makers about support and information. We decided Facebook group. More families join this what’s important to families who are to tackle this by developing a resource unique and friendly community every day. called a Route Map that helps rare without a diagnosis. We have also disease patients coordinate their own This year’s achievements have been visited seven NHS regional genetics health and social care. Our Route about coming together in many different services, where families are meeting Maps for Rare Conditions Toolkit, ways. We have embraced social media clinical teams to give them a direct funded as part of a wider project by to reach out to families in their own understanding of life without a diagnosis. the Department of Health, aims to help homes, to fit around when they have small patient groups design a Route the time to talk with others. Our blogs Map for their own condition. and moderated online forums offer peer support in an engaging way and include We worked with ten of our smallest a dads group and regional groups. ‘It’s just great if you are groups to produce their own condition- We also send out regular newsletters specific Route Maps. Evaluating these and updates to all families so as not to worried or concerned... Route Maps demonstrated improved exclude those who are not online. you can post on the access to information for patients, families and health and social care We held two family days and had a SWAN UK Facebook professionals, leading to increased number of local events across the UK – page and immediately awareness and understanding of the Christmas parties, trips to museums and conditions. We will continue to make even a mums’ night out! This year we feel less alone.’ sure many other groups hear about piloted local SWAN support networks how a Route Map for their condition – families meeting up in their local area, can help their families. reducing their sense of isolation and ‘The Route Map is being a part of a group there especially fantastic! It’s a one-stop- for the benefit of their family. SWAN UK shop for everything I Our second year of running the SWAN An amazing achievement this year has needed to know’ UK (Syndromes Without A Name) been the fundraising that families and network for families of children with supporters have done. People have Parent whose son has undiagnosed genetic conditions has sky dived, organised swimathons, and Obliterative Bronchiolitis (OB) been fantastic. Funded by the Big Lottery, shaved their heads to support more commenting on the OB Trust’s SWAN UK initiatives. We are grateful Route Map.

10 Genetic Alliance UK Information and support

Championing biomedical science

Genetic Alliance UK advocates Partnering with leading organisations Biobanks and public support including Muscular Dystrophy for a strong and flourishing This year, we asked the general public research community. We focus Campaign, Newcastle’s Centre for Life, Progress Educational Trust, what might encourage or discourage on ensuring that innovation in Science Media Centre and the them to participate in biobanking. A research and development is Wellcome Trust, we communicated the biobank is a type of repository that translated and commissioned key issues to other opinion leaders, stores biological samples (usually achieved substantial media coverage human) for use in research. Biobanks into health services to address are an important tool in helping us unmet health needs and in the UK press and disseminated our informative, accessible, cartoon- to understand more about different improve patient outcomes. style leaflet to de-mystify the science diseases such as genetic conditions. involved. Our research was funded by the Avoiding mitochondrial Technology Strategy Board. diseases with biomedical Increasing understanding of We discovered a high level of public therapies animals in medical research support for biomedical research and willingness to donate samples A national consultation by the Human The use of animals in medical for this purpose, but that there were Fertilisation and Embryology Authority research is a challenging area for underlying concerns about the use (HFEA) on technologies for avoiding many. This year with Understanding of certain types of samples, the mitochondrial diseases was a focus of Animal Research, we piloted a conditions under which they are used, our work this year. Our Director was project that engages patients and and data security. We are publishing a member on the HFEA Oversight families with researchers investigating our findings in peer review journals, Working Group, enabling us to their particular condition to learn for including the British Medical Journal, ensure the consultation considered themselves about the use of animals and we will be using the evidence the views of patients and families in medical research. Feedback from to inform decision makers and with mitochondrial diseases. In the project was very positive with practitioners to influence their practice. March 2013, the HFEA published its participants expressing an interest in consultation findings recommending the area in order to help them speak that this scientific technique should openly and publically about the be researched and developed to find benefits of animal research. safe and effective ways of avoiding mitochondrial disease.

Annual Report and Accounts 2012 - 2013 11 Access to medicines

Access to medicines

Value based pricing of new Access to medicines in Scotland Working with regulators medicines In Scotland this year, we successfully This year, we have helped the With the clock counting down to raised attention to the issue of access European Medicines Agency by January 2014 and the introduction of to medicines for rare diseases introducing them to patients and a new pricing system for medicines in amongst politicians and policy patient groups who are invited to the UK that is to be based on ‘value’, makers. Our Public Petition called for review information leaflets on the we have continued to be vocal in the Scottish Government to review the medicines they are licensing. Involving this debate. We support a system mechanism and methodology used the intended beneficiaries of the which pays more for medicines that by the Scottish Medicines Consortium medicine provides the best possible bring greater value to patients and the to appraise the value of medicines review for such resources and brings healthcare system, while ensuring that for orphan diseases and to instruct the regulator into closer and better the system is consistent, robust and the Chief Medical Officer to revise working relationships with patients equitable. We have communicated the criteria for accessing Individual and patient groups, building on future our priorities to the UK government Patient Treatment Requests in relation opportunities of collaboration and and to other interested groups - that to orphan diseases. Following partnership. We hope to continue the system should assess value based consideration by the Health and Sport developing this collaboration and on patient outcomes and helps to Committee in November 2012, the also build on this work with the foster innovation. Scottish Government announced a UK regulator, the Medicines and review into access to medicines in the Healthcare products Regulatory NHS. Agency (MHRA). We were delighted when the Scottish Government announced in January 2013 that it was launching a ‘Rare Disease Medicine Fund’ to cover the cost of medicines for individual patients with rare conditions, which are not available for routine prescription. This announcement recognised the need for patients with rare diseases to be able to access the medicines that they need.

12 Genetic Alliance UK Working in Europe

Working in Europe Many of our key policy issues Collaboration in Europe: “Thanks for the are regulated, governed or Spotlight on EUCERD advice Genetic decided in Europe. To have the We are an active member of EUCERD greatest influence and impact, (European Union Committee of Experts Alliance UK has we work in collaboration with on Rare Diseases). Charged with provided on the other patient groups from aiding the European Commission with across the continent to ensure the preparation and implementation NHS consultation, of Community activities in the field we achieve lasting change for of rare diseases, EUCERD works in it was very useful.” the benefit of our members and cooperation and consultation with Julie Greenfield Ataxia UK. their families. the specialised bodies in European member states. The Committee’s work This year, through the European includes delivering recommendations Genetic Alliance Network (EGAN), or reports to the European Commission “Your support for we led on a consultation response for either at the latter’s request or on organisations and the European Commission’s Regulation its own initiative, and assisting the on Advanced Therapy Medicinal Commission in drawing up guidelines, patients in dealing Products. This regulation will cover recommendations and any other stem cell therapies, tissue therapies action defined in the Commission with this consultation and gene therapy, and is one where Communication. EUCERD is a are superb.” we wish to ensure appropriate law- valuable forum for us to influence making that will also enable research policy decisions made at a European Susan Walsh CGD Society. and therapies to be developed and level and make sure UK patients given to patients. and families with genetic conditions benefit.

Annual Report and Accounts 2012 - 2013 13 Looking ahead

Looking ahead

The year ahead for 2013 – We also look forward to publishing We will continue to develop information 2014 will be a busy period for findings of our ‘Risks and Benefits: the and support that will be helpful to our Genetic Alliance UK and we European perspective’ project – which members, individuals and families. This will be reporting on the view across year, we will be further increasing our look forward to creating and Europe on how patients with serious collaborations with our membership, seizing the opportunities to medical conditions and their families working ever closer with them in all our influence and inform change perceive the balance between the risks activities. and the benefits of new biomedical for the benefit of our members We are looking forward to launching therapies. and families. our online resource ‘Navigating the The changes in the NHS in England NHS Maze’ which maps out the four Our policy priorities include the will be fully underway in this year. health services of the UK for patients and long-awaited publication and Here we will carefully monitor the their families, helping them understand implementation of the National Plan new system and will be actively who is accountable for delivering their for Rare Diseases. We will be active communicating to NHS officials and health services. Our SWAN UK network with our members in keeping up the clinical staff about the needs of our will also continue to grow – we hope pressure on politicians across the members and families. In Scotland, to get out and about, providing more whole of the UK, ensuring the Plan’s we will launch our Cross Party direct support to families in their own content can help lever changes for Group for rare diseases in Holyrood, communities. the better and that its detail will be another powerful tool to bring out key measureable to identify that it makes Although the economic climate for messages to politicians. In Wales, an improvement in peoples’ care. the year ahead will be difficult, we we will be investigating access to will continue to secure the funding Other policy priorities will include specialised services and therapies necessary that will enable us to build issues on access to medicines: and in Northern Ireland we will on our achievements and deliver more particularly NICE’s extending role continue our successful partnership benefits to patients, their families and in developing an appraisal process with the Northern Ireland Rare Disease our members. for highly specialised therapies, Partnership. the appraisal criteria of orphan medicines in Scotland and in Wales, and also the implementation of value based pricing for branded medicines in the UK.

14 Genetic Alliance UK Trustees’ Annual Report

Trustees’ Annual Report Year ending 31 March 2013 Board of trustees Governing document Christopher Friend - Chair* Genetic Alliance UK is the trading The Board of Trustees of Genetic Joanie Dimavicius - Vice Chair* name for Genetic Alliance UK Ltd, Alliance UK (who are also Richard West - Honorary Treasurer*# a registered charity and a company directors of Genetic Alliance UK John Dart# limited by guarantee, incorporated Ltd for the purposes of company Professor John Dodge# on 16 April 2006 and governed law) present their annual report Sally George* by its Memorandum and Articles of Christopher Goard* Association. together with the audited financial Dr Mike Knapton statements of Genetic Alliance UK Dr Mary Petrou Appointment and training of Ltd (the company) for the year Dr Marita Pohlschmidt trustees ending 31 March 2013. *Member of the Finance & General Trustees are responsible for the Purposes Committee They confirm that the annual report # Reappointed until 2015 overall governance of Genetic and audited financial statements of Alliance UK. Trustees are elected the company comply with the current Observers by the membership; nominees must statutory requirements, the requirements be proposed and seconded by the of the company’s governing document Corinna Alberg membership. Trustee appointments are and the provisions of the Charities Dr Hilary Burton for three years, after which they retire Statement of Recommended Practice Caroline Harrison but are eligible for reappointment. (SORP) 2005. Reference and Dr Fiona Hemsley New trustees receive induction from administrative details of the charity are Professor Shirley Hodgson existing trustees and senior members on the back page of this annual report. Dr Tessa Homfrey of staff. Trustees are provided with John Kempton an information pack detailing the Aim and objectives Fiona Macrae charity’s work, its governance and Dr Sowmiya Moorthie management policies and procedures, Genetic Alliance UK aims to improve Dr Liz Nelson and potential conflicts of interest that the lives of people affected by genetic Robin Nott may arise. Trustees are often involved conditions by ensuring that high quality Nicole Yost in ongoing work, giving them a better services and information are available Company secretary understanding of the charity’s work to all who need them. The objects of and prepare them for effective and the charity are to: Christopher Goard informed decision-making. • relieve persons suffering from Director genetic disorders; Governance and organisational • advance the education of the public Alastair Kent OBE concerning genetic disorders. management Auditor Trustees met five times in the year Public benefit Nyman Libson Paul Chartered ending 31st March 2013, where Accountants, Regina House, 124 they set the strategy, operating plans, The Board of Trustees confirm they Finchley Road, London NW3 5JS have had regard to the Charity budgets and reviewed the charity’s Commission’s guidance on public Bankers performance. Trustees delegate certain powers in connection with the charity’s benefit regarding section 4 of CAF Bank Ltd, 25 Kings Hill Avenue, management and administration to the the Charities Act 2011 when Kings Hill, West Malling, Kent Finance and General Purposes (F&GP) implementing current and planning ME19 4JQ future activities which demonstrate the committee, which is convened six times above aim and objectives. HSBC, Lion House, 25 Islington High a year. The committee comprises of five Street, London N1 9LJ trustees and senior members of staff, but all trustees receive the papers and may attend the meetings. The F&GP committee reports back to the full Board of Trustees, ensuring all decisions made are fully ratified.

Annual Report and Accounts 2012 - 2013 15 Trustees’ Annual Report

Trustees have delegated day-to-day Statement of trustees’ The trustees are responsible for management of Genetic Alliance UK responsibilities keeping proper accounting records to the Director, who reports to the which disclose with reasonable trustees. The trustees (who are also directors accuracy at any time, the financial of Genetic Alliance UK Ltd for the position of the charitable company The Director is assisted by senior purposes of company law) are and which enables them to ensure members of staff, and has responsibility responsible for preparing the Trustees’ that financial statements financial for planning strategies for Genetic Annual Report and the Financial statements comply with the Companies Alliance UK Ltd subject to policy Statements in accordance with Act 2006, the Charities and Trustee guidelines determined by the trustees. applicable law and United Kingdom Investment (Scotland) Act 2005 and Accounting Standards. the Charities Accounts (Scotland) Risk management Company and charity laws require the Regulations 2006 (as amended). They Trustees have considered the major trustees to prepare financial statements are also responsible for safeguarding risks to which the charity is exposed for each financial year which give a the assets of the charitable company and have established formal true and fair view of the state of affairs and for taking reasonable steps for the procedures including a risk register to of the charitable company and of the prevention and detection of fraud and identify and manage those risks. All incoming resources and application other irregularities. risks are reviewed regularly at Board of resources including the income and of Trustees and F&GP committee expenditure of the charitable company meetings. Significant risks include: for that period. In preparing these • Financial sustainability: financial statements the trustees are Maintaining income levels is required to: essential, and we are pursuing • select suitable accounting policies diverse activities and opportunities and apply them consistently; to generate income. We implement • make judgements and estimates that procedures for authorisation of are reasonable and prudent; all transactions, controlling and • observe the methods and principles regularly review our expenditure. in the charity’s Statement of • Retention of staff: We recognise Recommended Practice (SORP); the expertise and skills of our staff • state whether applicable UK is what enables us to pursue our Accounting Standards have been charitable aims effectively. We followed, subject to any material aim to give staff a high level of job departures disclosed and explained satisfaction where they feel fulfilled, in the financial statements; and supported and can develop their • prepare the financial statements on career. a ‘going concern’ basis unless it is • Preserving our reputation: Our inappropriate to presume that the reputation is essential to achieve charitable company will continue in our charitable activities to maximum operation. benefit and impact. In undertaking new activities and collaborations, we consider whether they fit with our aim and objectives and our ethical principles policy.

16 Genetic Alliance UK Treasurer’s letter and financial review

Treasurer’s letter and financial review

This is my first year as Honorary Treasurer Review of financial position Provision of information to and although our income has decreased auditors this was mainly due to two large Income for the year reduced by 9% organisations reducing their membership to £721,041 (2012: £792,755). Each of the persons who are trustees fees and a reduction in grant income. This was mainly due to a reduction at the time when this Trustees’ Annual Against this we have reduced our of donations of £15,132 (12% Report is approved has confirmed that: expenditure where possible. decrease) and reduced grant income • there is no relevant audit information of £55,316 (9% decrease). Our of which the charitable company’s Overall in a difficult year we have expenditure reflected a positive auditor is unaware; and managed to increase our reserves position in being £678,477 (3%) • the trustees have taken all steps that through tight budgetary controls. less than last year (£699,624). Our they ought to have taken to make The expenditure of the organisation has financial position for the year was themselves aware of any relevant been used to support our mission of therefore carefully monitored. audit information and to establish “Supporting, Campaigning and Uniting”. that the auditor is aware of that Principal funding elements information. In order to reduce our expenditure, the very difficult decision was made Our incoming resources are mainly Auditors in 2011 - 2012 to reduce salaries. membership subscriptions £36,095 In accordance with section 485 of the The trustees decided to reinstate the (5%), donations £112,792 (15%), Companies Act 2006, a regulation salaries some five months later in and project income £571,397 (80%). proposing that Nyman Libson Paul 2012 - 2013. We would like to Our resources and direct expenditure be reappointed as auditors will be publicly thank the staff for continuing to on restricted project work increased put to the Annual General Meeting. work with us to safeguard our financial by £41,615 but our unrestricted In preparing this report, the Trustees position in a difficult year. expenditure reduced by £62,752. To have taken advantage of the small We have a healthy pipeline of maintain and deliver our objectives via companies exemptions provided by projects where we have submitted the projects £33,998 was transferred section 415A of the Companies Act proposals to work with others on from unrestricted to restricted funds in 2006 various projects supported by the EU the year. This report was approved by the and UK funders. We continue to seek trustees on 1st July 2013 and signed out other projects that fall within the Reserves policy on their behalf by: objectives of the Charity that would be The free unrestricted reserves policy is of benefit to our members. to provide sufficient funds for a phased We would particularly like to closure and to be able to support acknowledge and thank Nancy Leslie work that meets our objectives but for a former trustee of the charity who left which no external grant is available. a generous legacy upon her death. Closure is not an option that Trustees Christopher Friend This equated to about 50% of our are considering but our unrestricted Chair unrestricted surplus for the year. reserve at March 2013 of £66,419 would have been sufficient for such eventuality.

Richard West Honorary Treasurer Annual Report and Accounts 2012 - 2013 17 Independent auditor’s report

Independent auditor’s report We have audited the financial Respective responsibilities of Basis of audit opinion statements of Genetic Alliance UK Ltd Trustees and auditors for the year ended 31st March 2013 We conducted our audit in which comprise the Statement of The Trustees’ responsibilities for accordance with International Financial Activities, the Balance Sheet preparing the Trustees’ report and the Standards on Auditing (UK and and the related notes. These financial financial statements in accordance Ireland) issued by the Auditing statements have been prepared under with applicable law and United Practices Board. An audit includes the accounting policies set out therein. Kingdom Accounting Standards examination, on a test basis, of (United Kingdom Generally Accepted evidence relevant to the amounts and This report is made solely to the Accounting Practice), and for being disclosures in the financial statements. company’s members, as a body, in satisfied that the financial statements It also includes an assessment accordance with Chapter 3 of Part give a true and fair view, are set of the significant estimates and 16 of the Companies Act 2006 and out in the Statement of Trustees’ judgments made by the Trustees in the to the Charity’s Trustees, as a body, in Responsibilities. preparation of the financial statements accordance with section 44(1)(c) of and of whether the accounting policies the Charities and Trustee Investment We have been appointed auditors are appropriate to the charity’s (Scotland) Act 2005 and regulation under section 44(1)(c) of the Charities circumstances, consistently applied 10 of the Charities Accounts and Trustee Investment (Scotland) Act and adequately disclosed. (Scotland) Regulations 2006. Our 2005 and under the Companies audit work has been undertaken so Act 2006 and report to you in We planned and performed our audit that we might state to the company’s accordance with those Acts. so as to obtain all the information and members those matters we are explanations which we considered Our responsibility is to audit the necessary in order to provide us with required to state to them in an auditor’s financial statements in accordance report and for no other purpose. To the sufficient evidence to give reasonable with relevant legal and regulatory assurance that the financial statements fullest extent permitted by law, we do requirements and International not accept or assume responsibility to are free from material misstatement, Standards on Auditing (UK and whether caused by fraud or other anyone other than the company and Ireland). the company’s members as a body, for irregularity or error. In forming our our audit work, for this report, or for We report to you our opinion as opinion we also evaluated the overall the opinions we have formed. to whether the financial statements adequacy of the presentation of give a true and fair view, have been information in the financial statements. properly prepared in accordance with United Kingdom Generally Accepted Accounting Practice and have been prepared in accordance with the Companies Act 2006, the Charities and Trustee Investment (Scotland) Act 2005 and regulation 8 of the Charities Accounts (Scotland) Regulations 2006. We also report to you whether, in our opinion, the information given in the Trustees’ Annual Report is consistent with those financial statements.

18 Genetic Alliance UK Independent auditor’s report

Opinion on financial statements Matters on which we are In our opinion the financial statements: required to report by exception • give a true and fair view of the state We have nothing to report in respect of the charitable company’s affairs of the following matters where the as at 31 March 2013 and of its Companies Act 2006 requires us to Jennifer Pope incoming resources and application report to you if, in our opinion: of resources, including its income • adequate accounting records have Senior Statutory Auditor, for and expenditure, the year then not been kept, or returns adequate and on behalf of Nyman Libson ended; for our audit have not been received Paul, Chartered Accountants and • the financial statements have been from branches not visited by us; or Registered Auditors properly prepared in accordance with • the financial statements are not in Regina House, 124 Finchley Road, United Kingdom Generally Accepted agreement with the accounting London NW3 5JS Accounting Practice applicable to records and returns; or on 1st July 2013 Smaller Entities; and • certain disclosures of trustees’ • the financial statements have been remuneration specified by law are prepared in accordance with the not made; or Companies Act 2006, the Charities • we have not received all the and Trustees Investment (Scotland) information and explanations we Act 2005 and regulation 8 of require for our audit; or the Charities Accounts (Scotland) • the Trustees were not entitled to Regulations 2006 (as amended). prepare the financial statements in accordance with the small Opinion on other matters companies regime and take prescribed by the Companies advantage of the small companies’ Act 2006 exemption in preparing the Trustees’ report. In our opinion the information given in the Trustees’ report for the financial year for which the financial statements are prepared is consistent with the financial statements

Annual Report and Accounts 2012 - 2013 19 Financial Report Genetic Alliance UK Ltd Statement of financial activities Company number: 05772999 for the year ended 31 March 2013

Restricted Unrestricted Total Total funds funds funds funds Note 2013 2013 2013 2012 £ £ £ £ Incoming resources Incoming resources from generated funds Voluntary income 2 112,792 112,792 127,924 Membership subscriptions 3 36,095 36,095 37,706 Investment income 4 757 757 412 Incoming resources from charitable activities Grants receivable 5 571,397 571,397 626,713 Total incoming resources 571,397 149,644 721,041 792,755

Resources expended Cost of generating funds Costs of generating voluntary income 25,250 25,250 40,375 Costs of charitable activities 578,964 34,681 613,645 621,752 Governance costs 39,582 39,582 37,498

Total resources expended 6 578,964 99,513 678,477 699,624

Net income before transfers (7,567) 50,131 42,564 93,130

Transfers between funds 11 33,998 (33,998) - -

Net movement in funds for the year 26,431 16,133 42,564 93,130

Total funds at 1 April 2012 50,146 50,286 100,432 7,302

Total funds at 31 March 2013 76,577 66,419 142,996 100,432

20 Genetic Alliance UK Financial Report Genetic Alliance UK Ltd (a company limited by guarantee) Balance sheet Company number: 05772999 As at 31 March 2013

Notes 2013 2012 £ £ Fixed assets Tangible assets 9 - 2,003 Total fixed assets - 2,003

Current assets Debtors 10 105,545 125,712 Cash at bank 255,771 299,391 Total current assets 361,316 425,103

Creditors Amounts due within one year 12 (218,320) (326,673)

Net current assets 142,996 98,430 Total assets less current liabilities 142,996 100,433

Charity funds Restricted 11 76,577 50,147 Unrestricted funds 11 66,419 50,286 Total charity funds 142,996 100,433

The financial statements have been prepared in accordance with the special provisions relating to companies subject to the small companies regime within Part 15 of the Companies Act 2006 and in accordance with the Financial Reporting Standard for smaller entities (effective April 2008) The financial statements were approved by the Trustees on the 1st of July 2013 and signed on their behalf, by:

Chris Friend, Chair Richard West, Honorary Treasurer

The notes on pages 22 to 28 form part of these financial statements.

Annual Report and Accounts 2012 - 2013 21 Financial Report Genetic Alliance UK Ltd Notes to the financial statements for the year ended 31 March 2013

1 Accounting policies 1.4 Pensions 1.1 Basis of preparation of financial statements The charity does not operate a pension scheme for its employees but does contribute to the personal pension The financial statements have been prepared under the scheme of relevant staff members’ choice. The company historical cost convention, with the exception of investments contributed 7% of salary to staff with a pension scheme which are included at market value, and in accordance before October 2011 and 3% for new schemes thereafter. with the Financial Reporting Standard for Smaller Entities (effective April 2008). The financial statements have been prepared in accordance with the Statement of 1.5 Fund accounting Recommended Practice (SORP), “Accounting and Reporting Restricted funds are accounted for in accordance with the by Charities” published in March 2005, applicable particular terms of trust arising from the express or implied accounting standards and the Companies Act 2006. wishes of donors and grant making bodies in so far as these are binding on the trustees. 1.2 Incoming resources Unrestricted funds are available for use at the discretion All incoming resources are included in the Statement of of the trustees in furtherance of the general objects of the Financial Activities (SOFA) when the company is legally charity. entitled to the income and the amount can be quantified with reasonable accuracy. 1.6 Tangible assets and depreciation Donations are accounted for when received and Tangible assets are stated at cost less depreciation. membership subscriptions on a receivable basis. Depreciation is provided at rates calculated to write off Grants are accounted for on an accruals basis and are the cost of fixed assets, less their residual value, over, their allocated as follows: expected useful lives on the following basis: a) to Donations, Legacies and Gifts if it is considered that Computer equipment - straight line 3 years. the payment has no particular service requirements, b) to Income Arising from Charitable Activities if it does 1.7 Operating leases not fall in category (a) above. Rentals under operating lease are charged to the statement Investment income is recognised on a receivable basis. of financial activities on a straight line basis over the lease term. 1.3 Resources expended Expenditure is charged to the Statement of Financial 1.8 Foreign currencies Activities (SOFA) on an accruals basis as a liability is Monetary assests and liabilities denominated in foreign incurred and is classified as follows: currencies are translated into sterling at rates of exchange a) Cost of generating funds - This comprises all costs ruling at the balance sheet date. incurred by the charity associated with attracting Transactions in foreign currencies are translated into sterling voluntary income to finance its charitable objectives. at the rate ruling on the date of the transaction. b) Charitable expenditure - This comprises all expenditure Exchange gains and losses are recognised in the Statement incurred by the charity in the delivery of its activities of Financial Activities. and services relating to the projects undertaken and includes specific staff and consultancy costs. 1.9 Taxation c) Support costs - This comprises central costs including The charity is a registered charity and exempt from income salaries, accommodation costs and other expenses tax and corporation tax under S505(1) of the Income and necessary to support the activities. These costs have Corporation Taxes Act 1988. been allocated to each activity on a basis consistent with the use of resources. d) Governance costs - This comprises all costs associated with meeting the constitutional and statutory requirements of the charity and include the audit cost of £3,600.

22 Genetic Alliance UK Financial Report Genetic Alliance UK Ltd Notes to the financial statements 2 Donations and grants Restricted Unrestricted Total Total funds funds funds funds 2013 2013 2013 2012 £ £ £ £ Genzyme 1,166 1,166 7,500 GlaxoSmithKline 43,000 43,000 40,000 Legacy 10,000 10,000 - Medical Research Council 10,000 10,000 10,000 Other donations 10,231 10,231 924 Pfizer 2,000 2,000 - Shire 2,395 2,395 - St George’s Hospital - - 1,500 The Hospital Saturday Fund 1,000 1,000 - The Violet & Milo Cripps Trust - - 5,000 University of Manchester - - 10,000 Wellcome Trust 33,000 33,000 50,000 XL Charity of the Year - - 3,000 Voluntary income - 112,792 112,792 127,924

3 Activities for generating funds Restricted Unrestricted Total Total funds funds funds funds 2013 2013 2013 2012 £ £ £ £ Membership subscriptions - 36,095 36,095 37,706

4 Investment income Restricted Unrestricted Total Total funds funds funds funds 2013 2013 2013 2012 £ £ £ £ Interest receivable - 757 757 412

Annual Report and Accounts 2012 - 2013 23 Financial Report Genetic Alliance UK Ltd

5 Grants receivable Restricted Unrestricted Total Total funds funds funds funds 2013 2013 2013 2012 £ £ £ £ Citizen’s Jury Risks & Benefits 9,311 9,311 72,355 Discovery Days 10,330 10,330 - Ethnicity & Access 41,409 41,409 100,532 Ethnicity & Access 2 40,000 40,000 - Eupati 15,145 15,145 131 Eurogenguide (45,261) (45,261) (2,498) Eurogentest 2 35 35 6,698 Facilitating Networks - - 78,238 Genetic Alliance UK in Scotland 21,115 21,115 21,115 Genetics & Insurance 14,703 14,703 297 Information Pathways - - 29,509 Navigating the Maze 32,522 32,522 - NERRI 309 309 - Patient Engagement in Scotland 5,000 5,000 10,413 Patient Partner - - 21,787 Paving the Way - - 13,670 PGD 24,000 24,000 - PHGEN 2 - - (502) RAPID 28,803 28,803 43,345 Rare Disease UK 122,940 122,940 106,583 RDUK Stakeholder Engagement 29,192 29,192 558 Risks & Benefits 2 18,000 18,000 - Route Maps for Rare Conditions 64,138 64,138 64,023 STRATUM 62,309 62,309 15,058 SWAN BLF 55,625 55,625 53,733 SWAN Jeans for Genes - - (10,138) SWAN Children in Need 3,728 3,728 - SWAN Tesco 517 517 - SWAN General public funding 17,527 17,527 1,806 571,397 - 571,397 626,713

*The many funders for these projects are acknowledged in the annual report.

24 Genetic Alliance UK Financial Report Genetic Alliance UK Ltd

6 Total resources expended The costs of generating funds, charitable activities expenditure and governance costs by the allocation of direct and support costs.

Costs directly allocated Membership & Information Restricted Total Total to activities fundraising & education Governance funds 2013 2012 Specific project work £ £ £ £ £ £ Staff costs 333,546 333,546 221,666 Consultancy & professional fees 44,683 44,683 36,035 Conferences & partner fees 21,720 21,720 105,298 Travel & subsistence 19,250 19,250 21,644 Website 3,592 3,592 630 Other attributable costs 16,147 16,147 18,613

Support costs in relation to activities

Staff costs 22,727 31,605 33,107 67,639 155,078 203,908 Occupancy & administration costs 453 1,753 453 72,387 75,046 77,458 Travel & subsistence 1,403 655 1,754 3,812 0 Legal & professional fees 0 3,470 Audit & accountancy fee 3,600 3,600 8,899 Depreciation 667 668 668 2,003 2,003 25,250 34,681 39,582 578,964 678,477 699,624

7 Trustees’ benefits and renumeration None of the trustees (or any persons connected with them) received any remuneration during the year. Trustees were reimbursed a total of £549 (2012: £526) in respect of travelling expenses.

Annual Report and Accounts 2012 - 2013 25 Financial Report Genetic Alliance UK Ltd

8 Employees

2013 2012 The average number of employees during the year was: 14 15

2013 2012 £ £ Wages and salaries 430,497 375,625 Social security costs 43,510 36,750 Pension costs 14,617 13,201 488,624 425,576 One employee earned more than £50,000 During the year the charity made pension contributions in respect of 7 employees (2012: 7).

9 Tangible fixed assets

Cost Computer equipment 2013 2012 £ £ At 1 April 2012 6,009 6,009 Additions - - At 31 March 2013 6,009 6,009

Depreciation At 1 April 2012 4,006 2,003 Charge for the year 2,003 2,003 At 31 March 2013 6,009 4,006

Net Book value At 31 March 2013 - - At 31 March 2012 2,003

10 Debtors

2013 2012 £ £ Trade debtors 78,222 669 Other debtors 3,752 7,489 Prepayment and accrued income 23,571 117,554 105,545 125,712

26 Genetic Alliance UK Financial Report Genetic Alliance UK Ltd

11 Statement of funds Brought Incoming Less resources Transfers Carried forward resources expended in/(out) forward £ £ £ £ £ Unrestricted funds General funds - all funds 50,286 149,644 99,513 (33,998) 66,419

Restricted funds Citizen’s Jury Risks & Benefits 3,231 9,311 12,542 - Discovery Days - 10,330 3,732 6,598 Ethnicity & Access 19,240 41,409 60,649 - Ethnicity & Access 2 - 40,000 31,313 8,687 Eupati - 15,145 15,342 197 - Eurogenguide (1,687) (45,261) (14,335) 32,613 - Eurogentest 2 741 35 744 32 Genetic Alliance UK in Scotland 143 21,115 20,804 454 Genetics & Insurance - 14,703 14,703 - Navigating the Maze - 32,522 31,980 542 Nerri - 309 309 - Patient engagement in Scotland 9,654 5,000 1,701 12,953 PGD - 24,000 12,092 11,908 PHGEN 2 (658) - (77) 581 - RAPID 10,492 28,803 31,825 607 8,077 RDUK (127) 122,940 120,814 1,999 RDUK SEE - 29,192 29,192 - Risks & Benefits 2 - 18,000 16,478 1,522 Route Maps for Rare Conditions 161 64,138 60,294 4,005 Stratum 1,250 62,309 63,559 - SWAN BLF 5,900 55,625 53,073 8,452 SWAN Children inNeed - 3,728 3,728 - SWAN Tesco - 517 517 - SWAN General public funding 1,806 17,527 7,985 11,348 50,146 571,397 578,964 33,998 76,577 Total of funds 100,432 721,041 678,477 - 142,996

*The many funders for these projects are acknowledged in the annual report. Each restricted fund is for a specific project for which Genetic Alliance UK receives a grant and the income and fund balance are only spent on the purposes for each individual project

Annual Report and Accounts 2012 - 2013 27 Financial Report Genetic Alliance UK Ltd

11 Statement of funds continued Brought Incoming Resources Transfers Carried forward resources expended in/(out) forward £ £ £ £ £ Summary of funds

General funds 50,286 149,644 99,513 (33,998) 66,419 Restricted funds 50,146 571,397 578,964 33,998 76,577 100,432 721,042 678,477 - 142,996

12 Creditors

2013 2012 £ £ Trade creditors 36,794 26,983 Other creditors 13,370 6,880 Accruals and deferred income 168,156 292,810 218,320 326,673

13 Analysis of net assets between funds Restricted Unrestricted Total Total funds funds funds funds 2013 2013 2013 2012 Tangible fixed assets - - - 2,003 Current assets 273,265 88,051 361,316 425,103 Creditors due within one year (196,688) (21,632) (218,320) (326,673) 76,577 66,419 142,996 100,433

14 Operating lease commitments At 31 March 2013 the company had annual commitments under non- cancellable operating leases as follows:

2013 2012 £ £ Expiry date: Within one year 3,095 3,348 Between one and five years 8,865 4,856

28 Genetic Alliance UK Acknowledgements

Acknowledgements Many individuals and Funders GlaxoSmithKline organisations have supported We are grateful to everyone who Hospital Saturday Fund and helped us in delivering has supported us financially this year. Innovative Medicines Initiative our work this year. We take A special thank you goes to all the Legal & General this opportunity to show our individuals and families who have Medical Research Council fundraised for us; we also received a gratitude and thank them. Merck Sharp & Dohme legacy donation this year. We also thank the following funders who have MunichRe Volunteers given generously the following grants, National Institute for Health Research We regularly utilise the skills of donations and sponsorship this year. Novartis volunteers recruited from our member Aegon Pfizer groups or other stakeholders. We Actelion estimate that 100 people helped us in Raptor our work during the course of the year. Alexion RGA These volunteers often have direct Association of the British Royal London personal or professional experience Pharmaceutical Industry Scottish Government of genetic conditions. We also have Assurance Medical and Underwriting ScorRe access to a network of contacts Society in both the lay and professional Shire AstraZeneca communities. These people provide Sigma Tau Baxter advice, support and specific inputs to SwissRe our activities as and when the need BBC Children in Need Technology Strategy Board arises. We are very grateful to all BIG Lottery Fund who support our work in a voluntary Tesco Charity Trust BioMarin capacity. Thank you. UCB Biomedical Research Education Trust UK Forum for Genetics and Insurance CSL Behring Understanding Animal Research Department of Health Third Sector University of Nottingham Investment Unum EU Sixth Framework Viropharma EU Seventh Framework Wellcome Trust Friends Life Genzyme

We thank GlaxoSmithKline for covering the costs of printing and delivery of this Annual Report.

Annual Report and Accounts 2012 - 2013 29 Membership

Membership Our membership is at the Breathtakers Charity FSH Muscular Dystrophy Support Group heart of our work and we were British Heart Foundation delighted that our membership Fuchsfriends UK British Porphyria Association, The grew to 162 members by 31st Galactosaemia Support Group March 2013. We are very Cancer Research and Genetics UK Gauchers Association grateful to every single member Cardiomyopathy Association Gorlin Syndrome Group as it demonstrates recognition Cavernoma Alliance UK in the value of our work. Our HAE UK CDLS Foundation members are: Haemochromatosis Society CGD Research Trust Action for Sick Children (Scotland) Haemophilia Society ChILd Lung Foundation Action on Gilbert’s Syndrome Headlines Craniofacial Support Childhood Eye Cancer Trust Adrenal Hyperplasia Network HITS (UK) Family Support Network Chromosome 18 Registry and Advocacy for Neuroacanthocytosis Research Society (Europe) HME Support Group Patients CLIMB HSP Support Group aHUSUK CMT United Kingdom Huntington’s Disease Specialist Service Albinsim Fellowship Cohen Syndrome Support Group Huntington’s Disease Association ALD LIFE Confer Scotland Huntington’s Disease Association Alkaptonuria Society (Colchester Branch) Congenital Adrenal Hyperplasia Alpha 1 Awareness UK Support Group Huntington’s Disease Association Northern Ireland Alstrom Syndrome UK Costello Support Group (International) Hypermobility East Anglia Group Amy and Friends Cri Du Chat Syndrome Support Group Hypoparathyroidism (HPTH) UK Androgen Insensitivity Syndrome DBA-UK Support Group Ichthyosis Support Group DEBRA Aniridia Network UK Jewish Genetic Disorders UK Down’s Heart Group Anorchidism Support Group (ASG) Keratoconus Self Help and Support Dravet Syndrome UK Anthony Nolan Group Duchenne Family Support Group ARC Klinefelter Organisation (UK) Dyskeratosis Congenita Society Arthrogryposis Group (TAG), The Klinefelter’s Syndrome Association East London Branch Sickle Cell Society Assert Laurence Moon Bardet Biedl Society Ectodermal Dysplasia Society Association of Multiple Endocrine The Lipoprotein Lipase Deficiency Neoplasia Disorders (AMEND) Ehlers-Danlos Support Group Community Ataxia - Telangiectasia Society Eyeless Trust, The Making it Better - The Daniel Courtney Trust Ataxia UK Familial Alzheimer’s Disease Support Group Manchester Sickle Cell and Barth Syndrome Trust Fanconi Hope Thalassaemia Centre Batten Disease Family Association FAP UK Marfan Association UK Beckwith-Wiedemann Support Group Friends of Kabuki Syndrome Marfan Trust Behcets Syndrome Society

30 Genetic Alliance UK Membership

Max Appeal RP Fighting Blindness The Neuro Foundation Medical Advisory Service Rubinstein Taybi Support Group The Sickle Cell Society Moebius Research Trust SADS UK The Thalidomide Society Mosaic Down Syndrome UK Save Babies Through Screening The Von Hippel Lindau Contact Group Foundation UK Motor Neurone Disease Association Thyroid UK Scottish Huntington’s Association Mowat-Wilson Syndrome Support TRPS Support Group UK Shwachman-Diamond Support UK Group Tuberous Sclerosis Association Sickle Cell and Young Stroke Survivors Muscular Dystrophy Campaign Turner Syndrome Support Society (UK) Society for Mucopolysaccharide Myotonic Dystrophy Support Group UK Thalassaemia Society Diseases Myrovlytis Trust UKPIPS SOFT UK Naitbabies.org UK Potsies STEPS - Association for People with Narcolepsy UK Lower Limb Abnormalities Unique- The Rare Chromosome National Sickle Cell Programme Disorder Support Group Stickler Syndrome Support Group Nemaline Myopathy Usher Service - SENSE Tar Support Group Nephrotic Syndrome Trust Vasculitits UK (SSVT) Telangiectasia Self Help Group Niemann-Pick Disease Group (UK) Williams Syndrome Foundation Limited The 22 crew Noonan Syndrome Assocation Wilson’s Disease Support Group The Association for Glycogen Storage Noonan UK Diseases (UK), The Worster Drought Syndrome Support Group NSPKU The Brittle Bone Society XLP Research Trust OSCAR The Cavan Tommy Hoey Trust (Ireland) XP Support Group Osteopetrosis Support Group The Children’s Mitochondrial Disease Pemphigus Vulgaris Network Network Peutz Jeghers Syndrome Support The Cogent Trust Group The Cystic Fibrosis Trust PID UK (Genetic Disorders UK) The Fragile X Society Plagiocephaly Care UK The Frontotemporal Dementia Support PNH Support Group, King’s College Group (formerly, Pick’s Disease Hospital Support Group) Polycysitc Kidney Disease Charity The Hypermobility Syndrome Association Prader Willi Syndrome Association UK The Information Point for Centronuclear Primary Ciliary Dyskinesia Family and Myotubular Myopathy Support Group The International Autistic Research PVNH Support and Awareness Organisation PXE Support Group The Jennifer Trust for Spinal Muscular Restricted Growth Association Atrophy

Annual Report and Accounts 2012 - 2013 31 Reference and administrative details Address: Unit 4D, Leroy House 436 Essex Road London, N1 3QP Telephone: +44 (0)20 7704 3141 Fax: +44 (0)20 7359 1447 Email: [email protected] Website: www.geneticalliance.org.uk Registered Charity Numbers: 1114195 and SC039299 Registered Company Number: 05772999 Twitter @GeneticAll_UK Facebook GeneticAllianceUK