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← Rare Chromosome Disorder Support Group

2025-03-31-accounts

Unique - Rare Chromosome Disorder Support Group

2024-2025 UNIQUE ANNUAL REPORT

Rare Chromosome Disorder Support Group trading as Unique Company no. 05460413 Company no. 05460413 Charity no. 1110661 Charity no. 1110661 Year end 31[st] March 2025

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Unique - Rare Chromosome Disorder Support GroupUnique - Rare Chromosome Disorder Support Group

Reference and administrative details

Company number: 05460413 Charity number: 1110661

Address

Website

Trustees

Registered office and operational address: F4, The Stables Station Road West Oxted Surrey RH8 9EE

rarechromo.org

Trustees, who are also directors under company law, who served during the year and up to the date of this report were as follows: Helen Campbell - Trustee

Isobel Hindle, Trustee, until 3[rd] September 2024 Cecely Hugh - Trustee, appointed 16[th] December 2024

Edna Knight, MBE – Trustee, Founder, Life President James Lucas - Trustee, appointed 14[th] January 2025

Dr Shwetha Ramachandrappa - Trustee Sophie Sainty - Chair Benjamin Stern - Trustee Fiona Catherine Fulton de Zoete - Trustee

Staff

Patrons

Bankers

Independent examiners

Chief Executive Officer: Dr Sarah Wynn

Chief Operating Officer: Craig Mitchell (until 31[st] January 2025) Information Officer (Family Support): Anita Davis Information Officer (Family Support): Charlotte Wilmhurst Information Officer (Family Support): Francesca Wicks Scientific Communications Officer: Anna Pelling Scientific Communications Officer: Claire Andersen Administration Officer: Gemma Mitchell Finance Officer: Louise Jeffree Company secretary (until 21[st] November 2024): Craig Mitchell Company secretary (from 21[st] November 2024): Louise Jeffree

Baroness Pauline Neville-Jones, UK Professor Albert Schinzel, Switzerland Professor Dian Donnai, UK Professor Jean-Pierre Fryns, Belgium Professor Judith Hall, Canada

Charities Aid Foundation Kings Hill, West Malling, Kent, ME19 4TA Lloyds Bank, PO Box 545, Faryners House, 25 Monument Street, London, EC3R 8BQ United Trust Bank, 1 Ropemaker Street, London, EC2Y 9AW Yorkshire Building Society, Yorkshire House, Yorkshire Drive, Bradford, BD5 8LJ Virgin Money plc, Jubilee House, Gosforth, Newcastle-upon-Tyne, NE3 4PL

Godfrey Wilson Limited, Chartered accountants and statutory auditors 5[th] Floor, Mariner House, 62 Prince Street, Bristol, BS1 4QD

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Unique - Rare Chromosome Disorder Support Group

ABOUT UNIQUE

1 in every 150 babies born has a rare chromosome or gene disorder

There can be significant variation in the impact of having a rare chromosome or gene disorder. They are lifelong genetic conditions which for some people can cause severe learning and physical disabilities, complex medical issues and may be life limiting and life threatening. Others may be more mildly affected or may not be aware they have a condition until they experience difficulties having a family.

The Rare Chromosome Disorder Support group (known as ‘Unique’) is the only support group for all rare chromosome and gene disorders. UK based with an international reach, we understand genes and chromosomes, and we work with everyone whose life has been touched by rare chromosome or gene disorders. Whether you’re someone living with a condition, a parent or carer, an educator, a social worker, a doctor or a scientist – whoever you are, Unique is here for you!

Unique - Rare Chromosome Disorder Support Group

Mission

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder associated with learning disability/developmental delay and to raise public awareness.

Aims and objectives

We aim to act as an international group, supporting, informing and networking with anyone affected by a rare chromosome or single gene disorder and with any interested professionals.

Inform

We aim to provide specialist information relating to many hundreds of different rare chromosome and gene disorders, to inform parents, carers and the professionals working with them.

Network

We aim to facilitate a network of families across the world living with rare chromosome or gene disorders, bringing them together both in person and virtually for invaluable mutual support. By networking with professionals and the wider public we also aim to increase awareness and understanding of what it’s like to live with these disorders.

Support

We aim to be there for families and individuals, offering a listening ear, an understanding, sympathetic presence to support them when they need us most, often at or just after receiving a diagnosis of a rare chromosome or single gene disorder.

Unique - Rare Chromosome Disorder Support Group

LETTER FROM CHAIR

Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders

This year we celebrated the incredible milestone of Unique turning 40 and, as well as looking back at all that we have achieved, we took it as an opportunity to refresh our image. Working with our members, our staff and trustees and our partnership with Havas Life London, we launched a brand new logo and branding. We hope you love it as much as we do! Havas Life London also helped us launch our first ever pop song and video as part of Rare Chromo Day 2024. Touch the Sky was co-created with our members using their words, images, and videos to highlight their experiences and emotions throughout their journey, and how it feels to be part of this special community.

As always, our work is informed by and all about our members and the families we serve. Almost 2,000 joined us in the last year to grow our total members to over 32,000 families in over 100 different countries. This year we implemented a long-held plan to set up an advisory board made up of Unique members, whose remit is to guide and advise our plans and strategy. We are also in constant dialogue with our broader membership via the 11,300 members of our Facebook cafe, over 1,000 calls and emails to our helpline and our family day events held this year in Manchester and Glasgow. We also undertook an extensive consultation with our members during this important birthday year. This work will be published in a comprehensive report as part of our Rare Chromo Day 2025 activities but we have taken some of the headline results in order to plan our activities for the upcoming year and beyond:

Almost half of survey respondents thought a key focus of Unique’s work should be offering more support/information to parents of young people/adults. We have secured funding to run a project targeting parents/carers of young people/adults and outputs from this project will be delivered over the next two years.

This coming year and into the future, we will continue to work hard to make sure the voices of those living with rare gene and chromosome conditions are heard. Much of our work involves advocating on behalf of our members and this year we have presented at over 40 conferences and meetings, staff members sit on 23 NHS, policy or research project boards and we have also continued to campaign to ensure that all those affected by rare chromosome and gene disorders are not forgotten and their needs are included in policy and service developments.

Last but not least, thank you to our dedicated staff who support us all by connecting us, answering our questions, writing the guides that help us to better meet the needs of all of us and our families who are affected by rare gene and chromosome conditions.

We are Unique… and so are you. This is a journey we can make together.

Sophie Sainty

Chair of Trustees

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Unique - Rare Chromosome Disorder Support Group

ACHIEVEMENTS AND - PERFORMANCE Unique at a glance

“We love your organisation and want you to know what a light you are to families after diagnosis when no one else knows or understands. Thank you for all you do.”

Survey respondent

Membership

32,172 total members in our registry

1,942 new members registered in 2024/25

Engagement

1,500 shares, 6,200 likes of our ‘I Support

2 family events attended by over 100 families

7 webinars hosted with over 500 participants

400k views across our website pages

Helpline

“It was yet again a super day and so wonderful to see everyone again. We had a great time.”

Event attendee

333 helpline calls taken

90% found the email helpline helpful

960 families were sent matching details

“Unique have been really supportive in a time when we have no understanding or support from professionals at the beginning of our journey. Without Unique it would have been a lot more difficult to understand and navigate around professional jargon and understanding of terminology.”

Resources

1270 guides now published

13 academic papers co-authored on

40 presentations and talks given

23 advisory groups participated in

*Unique survey, 2024

Survey respondent

Unique - Rare Chromosome Disorder Support Group

INFORM

“I used your website when he was 4 and we were searching for a diagnosis. Because and only because of your website did we figure it out and pointed the doctor in the right directions. We will forever be grateful!”

Survey respondent

Being diagnosed with a rare chromosome or gene disorder can be a terrifying time. Families and individuals are desperate for information but there is often very little available, or what is available is targeted at medical professionals and difficult to understand. Providing accessible, accurate and easy to understand information remains therefore one of our core services. All our guides are developed in partnership with professionals and people with lived experience, they are often a lifeline for families.

“Unique’s information was helpful and powerful to me. It was my first bit of information and touched my soul that there were others!”

Survey respondent

Survey responses show that 94.5% of respondents find our condition specific guides helpful. 96% of respondents to our professional survey have signposted to the condition specific information guides.

This year we published:

8 new condition specific guides

47 translations

4 guide updates

Total publications:

314 condition specific guides

233 on chromosome disorders

81 on single gene disorders

‘My chromosome’ story 26 guides

easy read condition 12 specific guides

582

translated guides

22 languages

All guides are available to view and download on our website.www.rarechromo.org 7

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Unique - Rare Chromosome Disorder Support Group

OUR NEW GUIDES

New Single Gene Disorder Minor updates guides

Updates

Translations

French

My Chromosome/Gene Story booklets

Georgian

EasyReads

Others

German

Italian

Russian

Spanish

Swedish

Traditional Chinese

Simplified Chinese

Unique - Rare Chromosome Disorder Support Group

PUBLIC BENEFIT

Webinars

During the year we hosted 7 webinars with over 500 people attending. Topics have included sleep, speech and language, you and your emotional wellbeing and on the newly discovered RNU4-2/ ReNU syndrome.

Feedback shows participants found these incredibly helpful, for example 90% of attendees at the speech and language webinar said it met or exceeded their expectations and that they would attend another webinar.

How our activities deliver public benefit

The Trustees confirm their due regard for the Charity Commission Guidance on Public Benefit in reviewing Unique’s aims, objectives and activities undertaken, planning future strategy and setting policy. As the UK’s only charity working in this specific field, throughout this report we have detailed the ways in which we help beneficiaries, providing specialist information as well as softer support.

For the wider public benefit, we continue to ensure there is representation of the public and patient voice in numerous ways. We sit on NHS boards including the NHS Clinical Reference Group for Genomics, the Joint Committee on Genomics in Medicine and the NHS People and Communities Forum. Unique staff also sit on the Scientific Advisory Boards for NIHR Manchester Biomedical Research Centre, DECIPHER and Rare Disease Hong Kong. As clinical care is rapidly evolving to include genetic/genomic testing in almost all areas of medicine, it is vital that our beneficiary group continues to be fully represented and heard. Unique staff reflect the views of our community by inputting into England’s Rare Diseases Action Plan, working with the Department of Health and Social Care (DHSC) to continue to help develop the guidance underpinning the Down Syndrome Act and sitting on numerous research project advisory boards. Our staff have also inputted into UK service delivery, for example by providing expert advice in the developmental of the updated specifications for both the NHS Genomic Medicine Service and the NHS Clinical Genetics Service.

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NEW PROJECTS

Unique - Rare Chromosome Disorder Support Group

New projects to increase and develop information guides

Advances in genetic testing in addition to research into the causes of rare conditions has resulted in more people worldwide being diagnosed with rare chromosome and gene disorders. Unique’s mission to provide accessible, family friendly information to all those who desperately need it has struggled to keep apace, given our limited resources. This year we have worked hard to build relationships with the professionals who work with rare genetic condition families and who support our information project, but we have also explored other ways to increase production of these much needed resources.

Collaboration with the Julia Garnham Centre (JGC)

Our collaboration with the JGC (Sheffield Children’s Hospital and the University of Sheffield) has continued at a steady pace. Following a Unique presentation at the annual Association of Clinical Genomics Sciences (ACGS), the team from the Julia Garnham Centre made contact to explore the possibility of their interns helping to produce and write Unique information guides. In collaboration we have applied for funding for a pilot project. The grant was successful, and a carefully selected list of conditions have been selected to be considered for guide production and nine students are currently working on these guides.

Collaboration with Manchester University and Shorthills AI

This project, which has also been successful in securing funding for a pilot project aims to design an Artificial Intelligence (AI) tool to aid with the data and literature steps of the information guide production pathway. We have continued to work extensively on our AI systems project with the teams in Manchester and India and attend fortnightly meetings. Scope/depth/accuracy, readability and plagiarism tools are under development and template adherence details have been modified to avoid AI hallucinations. We are now working with 10 clinical geneticists worldwide to trial the model to produce 10 new guides. We hope to apply for further funding to continue this promising and exciting line of work.

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Unique - Rare Chromosome Disorder Support Group

NETWORK

Networking is an important part of how we advocate for the rare chromosome and gene disorder community. We actively support, promote and participate in research, training and activities that can improve the lives of our community.

We maintain a number of strategic alliances including being members of Eurordis, Breaking Down Barriers and ERN Ithahca. We are also an active member of Genetic Alliance UK collaborating on a 'SARD' (Seeking A Rare Diagnosis), a suite of information materials aimed at supporting individuals and families seeking a diagnosis for genetic/rare conditions, and on working with the Department of Health and Social care (DHSC) to inform the Down Syndrome Act guidance and writing a followup letter to the new Health Minister to reiterate our call for the guidance to adequately cover other genetic conditions which have similar needs.

One member of our helpline team attended Equality and Diversity training with Breaking Down Barriers, including ‘Walking on Eggshells’ and ‘From Challenging Conversations to Comfortable Communication (May). The team also attended a webinar by Dr Ramy Saad about epigenetics.

Rare Disease Research UK (RDRUK) platform for Nucleic Acid Therapies (UPNAT) collaboration: Unique has been asked to help produce an information guide to Nucleic Acid Therapies as part of the RDRUK project. Initial meetings have been held and a skeleton outline of a guide produced.

Genomics AI Network (GAIN) project: Unique has been asked to sit on the PPIE panel for the GAIN project, which will shape how Artificial Intelligence should be used in Genomic Medicine. We presented at the launch event in November and will attend regular meetings in 2025 and 2026.

We also supported the Royal College of Speech and Language Therapists (RCSLT) Mental Health Bill - Committee Stage Briefing in support of Baroness Whitaker’s communication amendments and a parliamentary briefing on cousin marriage prepared by the British Society for Genomic Medicine (BSGM).

Academic papers

The team was involved in the production of 13 academic papers published.

The papers explore topics such as the benefits, harms and costs of genomic newborn screening for rare condtions, promoting timely and equitable access to rare disease genomic testing, evaluations of the NHS Genomic Medicine Service, the experiences of parenting a child with a genetic neurodevelopmental disorder and exploring if animations can improve parents understanding of prenatal sequencing.

Advisory groups

The Unique team sit on 23 advisory groups.

They include groups for research on digital interventions for childhood disruptive behaviour and anxiety, delivering genomic sequencing in clinical practice: a patient-centred evaluation of the new NHS, evaluating rapid genomic sequencing for critically ill children, ethical, legal and social issues (ELSI) in rare conditions research and clinical practice, exploring family planning and decision making for people with a visible difference which can be inherited and the SWAN Pathway specification group.

See appendix for a full list of advocacy and research activities.

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Unique - Rare Chromosome Disorder Support Group + o\ = | a:

There are now over members on the 35k Unique registry 120 representing over countries.

Unique - Rare Chromosome Disorder Support Group

SUPPORT

“In the beginning I found the family matching service so helpful, it put us in touch with the specific condition group and that helped so much. Since then the [Unique] Facebook café has been great to get and offer advice through”

Survey respondent

Consultation

During 2024/2025 we held an extensive consultation with individuals and families impacted by rare chromosome and gene disorders. Around 70% of survey respondents and all focus group participants were members of Unique. They told us that:

“I’m grateful as Unique was the first place I found practical information on my daughters genetic disorder. The kind most people can manage. Other than this there is just journal articles.”

Survey respondent

“Unique are fantastic at supporting parents to make a network and upon early diagnosis unique provide a lot of information to help understand technical terms and terminology.”

The message from the consultation was clear, Unique members value the community that we provide and would like more opportunities to meet other families in the future - both online and locally.

people completed 2,154 survey responses 538 partial responses

45 focus group participants

feedback group 53 participants

Survey respondent

“We attended quite a few conferences and they were so helpful in helping us have certain genetic testing done and we feel they are always available to help with any concerns and questions or worries we have had .They are a life line to families.”

Survey respondent

Membership committee

comments on our public 182 Facebook/Instagram

28 comments in our private Facebook group

professionals survey 79 respondents

A longstanding plan to create a Membership Engagement Committee (MEC) comprised of Unique members who have been engaged in our work, come from all over the world and have children of different ages with a variety of different conditions was realised this year. Two meetings have been held: the first was in May and the MEC evaluated and tested the Unique members survey and the second was held in September where we asked for feedback on our Rare Chromosome and Gene Disorder Awareness Day and also for views and feedback on the new logo and rebranding. We plan to meet 3-4 times per year.

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Unique - Rare Chromosome Disorder Support Group

FAMILY DAYS

“It was yet again a super day and so wonderful to see everyone again. We had a great time.”

Family day attendee

“I loved the opportunity to meet other 'unique' families - we are such a rare bunch! All of my connections since my daughter’s diagnosis have been online, so it was really nice to have a chance to connect in person. Thank you for the opportunity!”

poster you for the opportunity!” .SS Family day attendee ion -(e Li a, 14 14 14 SatOES ~~Y~~ W YU

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Unique - Rare Chromosome Disorder Support Group

RARE CHROMOSOME AND GENE DISORDER AWARENESS DAY

Also known as Rare Chromo Day, this awareness day is the focal point of the Unique community bringing together families from around the world to celebrate the achievements of their affected family member. This year it took place on 13[th] June 2024.

Highlights

The launch of the song ‘Touch the Sky’ and the accompanying lyrics dp video, which has to date been viewed almost 3,800 times on our YouTube channel.

A collaboration with Jean-Christophe Novelli on Instagram, PR liked more than 2,000 times and his wife Michelle’s open and honest interview with

Holding our first live Q&A session via Zoom, which was attended by more than 30 members.

Sarah.

‘I Support Rare Chromo We took over Genomics Day’ graphic being England’s X account to a shared 1,500 times, promote our content to liked 6,200 times and their 30,000 followers. a being seen on screen 119,000 times on Facebook and seen 51,000 time on Instagram.

20 people completing our Unique23 challenge, raising over £15,000.

Lots of members and supporters buying merchandise, wearing blue and yellow and holding assemblies, cakes sales etc at school.

Unique - Rare Chromosome Disorder Support Group

HELP TO MAKE IT POSSIBLE

Fundraisers

The 2024/25 financial year was awash with fabulous fundraisers. Our thanks to everyone who threw themselves into cycle challenges, marathon runs, boxing matches, cake sales and our awareness day Unique23 challenge. We receive no government funding so the proceeds from these fundraisers make a huge difference to our work.

67 £82k amazing individual raised between them fundraisers

3 companies chose Unique as their Charity of the Year

£58k raised between them

Our special thanks go to:

Unique - Rare Chromosome Disorder Support Group

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HELP MAKE IT POSSIBLE
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Funders

During 2024/25, we were the grateful recipients of over £86,000 in grants from Charitable Foundations and Trusts. Many of these were in response to applications made by us but others were from long standing supporters of our work. Some were restricted for use on specific projects while others were unrestricted for assisting with our core costs. We thank them all for their continued support of Unique’s aims.

Volunteers and Pro Bono Support

We are very grateful to the large number of volunteers who helped during the year. These include hundreds of genetics specialists who give their time freely to write and/or review our condition specific information guides prior to publication. To ensure accuracy, it is our policy that none of our information is published until this independent verification has taken place. After an introduction by Passion Partnership, we are delighted to have entered a two-year pro bono partnership with Havas Life Medicom, a specialist medical communications agency. Their team have worked with great passion and enthusiasm, assisting with our marketing and social media content on Rare Disease Day in February and undertaking a review and consultation process, with an exciting refresh and rebranding of the charity. Creative marketing professional Roberta Elliott has been hugely helpful, creating a variety of assets for use in our social media and other marketing, particularly in relation to our annual awareness day campaign. Roberta donates her time, as does Unique member Simon Jackson, a business analyst who specialises in databases who is helping us with the planning and spec for our planned “eG database upgrade – an extremely significant project for us. A huge thank you to all the genetics specialists who helped to translate our guides oe

Unique - Rare Chromosome Disorder Support Group

FINANCIAL REVIEW

Income

The 2024/25 financial year was a very successful one, with total income for the year coming to 467,192 an increase of 18% on the previous year, thanks largely to a few corporate fundraisers where we were the chosen Charity of the Year. Unrestricted income from all sources amounted to £397,168. This funding is particularly important as it affords the flexibility to direct expenditure to where Trustees feel it can be of most benefit to those who need us. From charitable trusts and foundations, we received unrestricted funding of £24,100 and restricted income of £61,931. This was for costs associated with the planned upgrade of our database, regional family support across the UK including funding for in-person family events in Wales, a Carer of Adults project and published information guides.

Expenditure

Total expenditure for the year was £402,200 an increase of 8.8%, caused by increased costs for hardware as well as the hire of a consultant with specific experience in the rare disease space to conduct a comprehensive survey of our membership and assist with grant applications. Trustees and senior staff met regularly during the year (in person and via Zoom), monitoring financial performance and our budget. Our robust financial management procedures mean that moving forward we can continue to invest in staff, resources and infrastructure to ensure longerterm sustainability in the face of ever-increasing demand.

Level of reserves

The Trustees have recently opted to change our reserves policy to hold a minimum reserve equivalent to six months’ average operating costs for the previous year. For this year, this equates to not less than £186,648. Trustees have again decided to designate £40,000 to protect our Listening Ear Telephone and Email helpline service. Reserves at the end of the year are £402,794, of which unrestricted reserves

stand at £327,929. Restricted funding carried forward to 25/26 is £74,865. Reserves protect our current and future beneficiaries, safeguarding key services to ensure the charity’s future sustainability. Over the coming year, we expect our planned new registry project to come to fruition, meaning levels of reserves will reduce significantly.

Future Plans

Having conducted a data cleanse of the information currently in our database, we are about to start developing our new registry which will provide Unique with the tools to enhance the service we provide our families for years to come. This has been a longstanding need for Unique, and we are grateful to those who have assisted in the planning stages.

Our recent survey of our membership has highlighted that we need to do more to assist them with the care of their adult family member with an RCGD. In this respect we were successful in applying for a grant from Awards for All England towards a 2-year project which will involve setting up a working group to bring together families of adults with RCGD and co-design new support services to meet their needs. It will include up to 4 regional workshops as well as virtual dropin-sessions, online information sessions and the setting up of WhatsApp groups. The learning from this project will help us better understand the needs of this section of our community and develop more long-term support for families throughout their journey, not just at the point of diagnosis.

Finally, we have received funding from Jeans for Genes for a Unique Conference being planned for March 2026 in Birmingham. The conference will bring many of our families together to access support and information, develop a network of friends and connections and improve their mental wellbeing.

Unique - Rare Chromosome Disorder Support Group

STRUCTURE, GOVERNANCE AND MANAGEMENT

Unique is an incorporated charity and company limited by guarantee, governed by a Memorandum and Articles of Association. The charity currently has eight Trustees with diverse backgrounds including law, business, finance, accounting, education and medicine. New Trustees are recruited by advertising as widely as possible, including via our own networks and we operate a fair, transparent and equal opportunity policy for recruitment of Trustees and staff. Trustees are currently undertaking a skills audit of the board of trustees, with the aim of identifying any skills gaps.

Governance and management structures of the charity are regularly reviewed to ensure optimal use of resources. Trustees meet four times per year and also correspond regularly via email and other digital means, taking a proactive approach to any fluctuations in income and refining strategy accordingly.

The Trustees delegate day-to-day management of the charity’s activities to Dr. Sarah Wynn, Chief Executive Officer (CEO), together with Louise Jeffree, Company Secretary. Unique currently employs eight members of staff, including the CEO, three of whom are full time and five part-time.

Registered members of the company limited by guarantee and others with an interest in Unique were invited to attend the nineteenth Annual General Meeting which was held in October 2024 and are kept informed by the Company Secretary.

Unique is an equal opportunity employer and take our responsibilities for the welfare of our staff extremely seriously. We contract an external HR provider to ensure our terms and conditions of employment, policies and recruitment processes are fair and transparent

Management of risk

in place, with appropriate contingency plans as operating conditions and/or performance change. The charity’s financial and other performance measures are reviewed at each board meeting and at other times as necessary.

Compliance and Training

Given the importance to our work of personal and sensitive medical data, staff and trustees are aware of the requirements of data protection law and have received training in this area. All Trustees and staff undergo regular DBS checks. Staff performance is kept under ongoing review and all staff have an annual appraisal covering the key responsibilities of their role and how they relate to Unique’s charitable aims. Any knowledge/skills gaps or training are identified and appropriate training sourced.

Given that we often receive research proposals from professionals, academics and others who request that we share them with member families, we have an Internal Research and Ethics Committee to appraise them and give approval before sharing.

Infrastructure

Throughout the year, Trustees and staff continued to ensure Unique’s infrastructure is fit for purpose. We maintain a small office hub, with most staff dividing their time between working from the office and working from home. Data security is paramount, with sensitive medical information stored, accessed and processed by staff according to our data protection policies, with which all staff are expected to familiarise themselves. All data are processed in accordance with the Data Protection Act/the General Data Protection Regulations (GDPR). We contract an expert IT company to provide secure systems including off-site solutions, allowing staff to work securely on a hybrid basis.

Unique’s Risk Register is reviewed annually and details the major risks to which the charity could be exposed. A disaster recovery plan is

Unique - Rare Chromosome Disorder Support Group

STATEMENT OF TRUSTEES’ RESPONSIBILITIES

The trustees (who are also directors of the charity for the purposes of company law) are responsible for preparing the trustees' report and the financial statements in accordance with applicable law and United Kingdom Accounting Standards, including Financial Reporting Standard 102: The Financial Reporting Standard applicable in the UK and Republic of Ireland (United Kingdom Generally Accepted Accounting Practice). Company law requires the trustees to prepare financial statements for each financial year, which give a true and fair view of the state of affairs of the charity and of the income and expenditure of the charity for that period. In preparing those financial statements the trustees are required to:

The trustees are responsible for the maintenance and integrity of the corporate and financial information included on the charitable company's website. Legislation in the United Kingdom governing the preparation and dissemination of financial statements may differ from legislation in other jurisdictions.

Members of the charity guarantee to contribute an amount not exceeding £10 to the assets of the charity in the event of winding up. The trustees are members of the charity but this entitles them only to voting rights. The trustees have no beneficial interest in the charity.

Independent examiners

Godfrey Wilson Limited were re-appointed as independent examiners to the charitable company during the year and have expressed their willingness to continue in that capacity.

Approved by the trustees on 16 October 2025 and signed on their behalf by

Sophie Sainty Chair of Trustees

The trustees are responsible for keeping proper accounting records which disclose with reasonable accuracy at any time the financial position of the charity and which enable them to ensure that the financial statements comply with the Companies Act 2006. The trustees are also responsible for safeguarding the assets of the charity and hence for taking reasonable steps for the prevention and detection of fraud and other irregularities.

Unique - Rare Chromosome Disorder Support Group

Company no. 05460413 Charity no. 1110661

Rare Chromosome Disorder Support Group Report and Unaudited Financial Statements 31 March 2025

Unique - Rare Chromosome Disorder Support Group

Independent examiner's report

To the trustees of

Rare Chromosome Disorder Support Group

I report to the trustees on my examination of the accounts of Rare Chromosome Disorder Support Group (the charitable company) for the year ended 31 March 2025, which are set out on pages 2317 to 3 82.

Responsibilities and basis of report

As the trustees of the charitable company (and also its directors for the purposes of company law) you are responsible for the preparation of the accounts in accordance with the requirements of the Companies Act 2006 (‘the 2006 Act’).

Having satisfied myself that the accounts of the charitable company are not required to be audited under Part 16 of the 2006 Act and are eligible for independent examination, I report in respect of my examination of the charitable company's accounts as carried out under section 145 of the Charities Act 2011 (‘the 2011 Act’). In carrying out my examination I have followed the Directions given by the Charity Commission under section 145(5) (b) of the 2011 Act.

Independent examiner’s statement

Since the charitable company’s gross income exceeded £250,000 your examiner must be a member of a body listed in section 145 of the 2011 Act. I confirm that I am qualified to undertake the examination because I am a member of the Institute of Chartered Accountants in England and Wales (ICAEW), which is one of the listed bodies.

I have completed my examination. I confirm that no material matters have come to my attention in connection with the examination giving me cause to believe that in any material respect:

I have no concerns and have come across no other matters in connection with the examination to which attention should be drawn in this report in order to enable a proper understanding of the accounts to be reached.

William Guy Blake

Date: 16 October 2025 William Guy Blake ACA Member of the ICAEW For and on behalf of: Godfrey Wilson Limited Chartered accountants and statutory auditors 5th Floor Mariner House 62 Prince Street Bristol BS1 4QD

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Statement of financial activities (incorporating an income and expenditure account)

For the year ended 31 March 2025

Note
Income from:
Donations and legacies
3
Charitable activities:
Family support services
4
Information and awareness
5
Investments
Total income
Expenditure on:
Raising funds
Charitable activities:
Family support services
Information and awareness
7
Transfer between funds
Reconciliation of funds:
Total funds brought forward
Total funds carried forward
Total expenditure
Net income and net movement in funds		 Restricted Unrestricted
£
£
9,743
378,295
46,731
-
13,550
11,298
-
7,575
70,024
397,168
-
68,393
24,367
127,715
7,020
174,705
31,387
370,813
(1,614)
1,614
37,023
27,969
37,842
299,960
74,865
327,929		 2025
Total
£
388,038
46,731
24,848
7,575
467,192
68,393
152,082
181,725
402,200
-
64,992
337,802
402,794		 2024
Total
£
339,868
31,205
20,263
5,331
396,667
54,922
155,628
159,092
369,642
-
27,025
310,777
337,802

All of the above results are derived from continuing activities. There were no other recognised gains or losses other than those stated above. Movements in funds are disclosed in note 17 to the accounts.

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Balance sheet

As at 31 March 2025

Note
Fixed assets
Tangible fixed assets
11
Investments
12
Current assets
Stock
13
Debtors
14
Cash at bank and in hand
Creditors: amounts due within 1 year
15
Net current assets
Net assets
16
Funds
17
Restricted income funds
Unrestricted funds:
General funds
Total charity funds
Designated funds		 £
8,288
15,619
389,984
413,891
17,200		 2025
£
2,103
4,000
6,103
396,691
402,794
74,865
40,000
287,929
402,794		 2024
£
2,115
4,000
6,115
2,877
19,156
323,663
345,696
14,009
331,687
337,802
37,842
40,000
259,960
337,802

The directors are satisfied that the company is entitled to exemption from the provisions of the Companies Act 2006 (the Act) relating to the audit of the financial statements for the year by virtue of section 477, and that no member or members have requested an audit pursuant to section 476 of the Act.

The directors acknowledge their responsibilities for:

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.

Approved by the trustees on 16 October 2025 and signed on their behalf by

Sophie Sainty - Trustee (Chair)

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

1. Accounting policies a) General information and basis of preparation

Rare Chromosome Disorder Support Group is a charitable company limited by guarantee registered in England and Wales. The registered office address is F4, The Stables, Station Road West, Oxted, Surrey, England, RH8 9EE.

The financial statements have been prepared in accordance with Accounting and Reporting by Charities: Statement of Recommended Practice applicable to charities in preparing their accounts in accordance with the Financial Reporting Standard applicable in the UK and Republic of Ireland (FRS 102) (effective 1 January 2019) - (Charities SORP (FRS 102)), the Financial Reporting Standard applicable in the UK and Republic of Ireland (FRS 102) and the Companies Act 2006.

Rare Chromosome Disorder Support Group meets the definition of a public benefit entity under FRS 102. Assets and liabilities are initially recognised at historical cost or transaction value unless otherwise stated in the relevant accounting policy note(s).

b) Going concern basis of accounting

The accounts have been prepared on the assumption that the charity is able to continue as a going concern, which the trustees consider appropriate having regard to the current level of unrestricted reserves and having considered the potential impact of the current economic environment in the UK and beyond. There are no material uncertainties about the charity's ability to continue as a going concern.

c) Income

Income is recognised when the charity has entitlement to the funds, any performance conditions attached to the item(s) of income have been met, it is probable that the income will be received and the amount can be measured reliably.

Income from grants, whether 'capital' or 'revenue', is recognised when the charity has entitlement to the funds, any performance conditions attached to the grants have been met, it is probable that the income will be received and the amount can be measured reliably.

Income received in advance of provision of an event or contract for services is deferred until criteria for income recognition are met.

For legacies, entitlement is taken as the earlier of the date on which either: the charity is aware that probate has been granted, the estate has been finalised and notification has been made by the executor(s) to the Trust that a distribution will be made, or when a distribution is received from the estate. Receipt of a legacy, in whole or in part, is only considered probable when the amount can be measured reliably and the charity has been notified of the executor's intention to make a distribution. Where legacies have been notified to the charity, or the charity is aware of the granting of probate, and the criteria for income recognition have not been met, then the legacy is treated as a contingent asset and disclosed if material.

d) Donated services and facilities

Donated professional services and donated facilities are recognised as income when the charity has control over the item, any conditions associated with the donated item have been met, the receipt of economic benefit from the use by the charity of the item, is probable and the economic benefit can be measured reliably. In accordance with the Charities SORP (FRS 102), general volunteer time is not recognised.

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

1. Accounting policies (continued) d) Donated services and facilities (continued)

e) Interest receivable

f) Funds accounting

Unrestricted funds are available to spend on activities that further any of the purposes of the charity. Designated funds are unrestricted funds of the charity which the trustees have decided at their discretion to set aside to use for a specific purpose. Restricted funds are donations which the donor has specified are to be solely used for particular areas of the charity's work or for specific projects being undertaken by the charity.

g) Expenditure and irrecoverable VAT

Expenditure is recognised once there is a legal or constructive obligation to make a payment to a third party, it is probable that settlement will be required and the amount of the obligation can be measured reliably.

Irrecoverable VAT is charged as a cost against the activity for which the expenditure was incurred.

h) Redundancy costs

i) Allocation of support and governance costs

Support costs are those functions that assist the work of the charity but do not directly undertake charitable activities. These costs have been allocated between activities on the following basis, which is an estimate of staff time spent on each activity:

2025 2024
Raising funds 13.6% 9.0%
Family support services 37.4% 52.0%
Information and awareness 49.0% 39.0%

j) Tangible fixed assets

Computer equipment

4 years straight line

Items of equipment are capitalised where the purchase price exceeds £500.

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

1. Accounting policies (continued) k) Fixed asset investments

Investments are stated at market value. The statement of financial activities includes any recognised gains or losses on revaluations and disposals during the year.

l) Stock

Stock is included at the lower of cost or net realisable value.

m) Debtors

Trade and other debtors are recognised at the settlement amount due after any trade discount offered. Prepayments are valued at the amount prepaid net of any trade discounts due.

n) Cash at bank and in hand

Cash at bank and cash in hand includes cash and short term highly liquid investments with a short maturity of three months or less from the date of acquisition or opening of the deposit or similar account.

o) Creditors

Creditors and provisions are recognised where the charity has a present obligation resulting from a past event that will probably result in the transfer of funds to a third party and the amount due to settle the obligation can be measured or estimated reliably. Creditors and provisions are normally recognised at their settlement amount after allowing for any trade discounts due.

p) Financial instruments

The charity only has financial assets and financial liabilities of a kind that qualify as basic financial instruments. Basic financial instruments are initially recognised at transaction value.

q) Foreign currency

Transactions in foreign currencies are translated at rates prevailing at the date of the transaction. Balances denominated in foreign currencies are translated at the rate of exchange prevailing at the year end.

r) Pension costs

The company operates a defined contribution pension scheme for its employees. There are no further liabilities other than that already recognised in the SOFA.

s) Operating leases

Rentals applicable to operating leases where substantially all of the benefits and risks of ownership remain with the lessor are charged against profits on a straight-line basis over the period of the lease.

t) Accounting estimates and key judgements

In the application of the charity's accounting policies, the trustees are required to make judgements, estimates and assumptions about the carrying values of assets and liabilities that are not readily apparent from other sources. The estimates and underlying assumptions are based on historical experience and other factors that are considered to be relevant. Actual results may differ from these estimates.

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

1. Accounting policies (continued)

t) Accounting estimates and key judgements (continued)

The estimates and underlying assumptions are reviewed on an ongoing basis. Revisions to accounting estimates are recognised in the period in which the estimate is revised if the revision affects only that period, or in the period of the revision and future periods if the revision affects both current and future periods.

The key sources of estimation uncertainty that have a significant effect on the amounts recognised in the financial statements are depreciation as described in note 1 (j) to the accounts.

2. Prior period comparatives

Income from:
Donations and legacies
Charitable activities
Family support services
Information and awareness
Investments
Total income
Expenditure on:
Raising funds
Charitable activities
Family support services
Information and awareness
Total expenditure
Net income and net movement in funds		 Restricted
£
£
25,779
314,089
31,205
-
6,125
14,138
-
5,331
63,109
333,558
-
54,922
29,521
126,107
12,136
146,956
41,657
327,985
21,452
5,573
Unrestricted		 2024
Total
£
339,868
31,205
20,263
5,331
396,667
54,922
155,628
159,092
369,642
27,025

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

3. Donations and legacies

Grants more than £5,000:
Dorothy Hay-Bolton Charitable Trust
Grants £5,000 or less
Donations from fundraising activities
General donations
Gift aid
Overseas donations
Corporate donations
Gifts in kind
Legacies
Give As You Earn (GAYE)
Pyramids
Prior year comparative
Grants more than £5,000:
Bothwell Charitable Trust
D & J Hunter Charitable Trust
Openwork Foundation
Postcode Society Trust
Grants £5,000 or less
Donations from fundraising activities
General donations
Gift aid
Overseas donations
Corporate donations
Gifts in kind
Legacies
Give As You Earn (GAYE)
Pyramids		 Restricted
£
£
-
9,000
1,650
15,100
8,093
198,773
-
50,130
-
42,793
-
15,249
-
19,398
-
5,000
-
20,800
-
1,520
-
532
9,743
378,295
Restricted
£
£
-
5,000
-
21,000
15,000
-
-
25,000
-
13,000
4,294
148,153
6,485
43,961
-
24,764
-
14,760
-
10,230
-
5,225
-
1,000
-
1,462
-
534
25,779
314,089
Unrestricted
Unrestricted		 2025
Total
£
9,000
16,750
206,866
50,130
42,793
15,249
19,398
5,000
20,800
1,520
532
388,038
2024
Total
£
5,000
21,000
15,000
25,000
13,000
152,447
50,446
24,764
14,760
10,230
5,225
1,000
1,462
534
339,868

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

4. Charitable activities: family support services

Grants £5,000 or less
Grants more than £5,000:
Pears Foundation
Awards for All		 Restricted
£
£
-
-
35,181
-
11,550
-
46,731
-
Unrestricted		 2025
Total
£
-
35,181
11,550
46,731		 2024
Total
£
8,500
16,330
6,375
31,205

All income from charitable activities: family support services in the prior year was restricted.

5. Charitable activities: information and awareness

Christmas card and merchandise sales
Conference fees
Prior year comparative
Christmas card and merchandise sales
Conference fees
Grants £5,000 or less
Grants £5,000 or less
Other income		 Restricted
£
£
13,550
-
-
8,833
-
2,177
-
288
13,550
11,298
Restricted
£
£
6,125
-
-
12,716
-
1,422
6,125
14,138
Unrestricted
Unrestricted		 2025
Total
£
13,550
8,833
2,177
288
24,848
2024
Total
£
6,125
12,716
1,422
20,263

6. Government grants

No government grants were received during the current or prior year.

The Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

7. Total expenditure

Total expenditure
Advertising
Independent examination and accountancy
Computer expenses
Depreciation
Event costs
Insurance
Office costs and rent
Postage and distribution
Printing and design
Professional fees
Project costs
Staff costs (note 9)
Stationery
Subscriptions, licences and charges
Training and other staff costs
Travel and subsistence
Website and database development
Sub-total
Allocation of support and governance costs
Total expenditure		 £
-
-
1,211
316
-
-
3,162
95
443
7,463
-
32,293
83
15,353
154
6
124
60,703
7,690
68,393
Raising funds		 Family support
£
800
-
2,935
866
13,078
-
9,066
1,183
2,474
2,910
5,000
88,517
298
395
130
1,406
1,945
131,003
21,079
152,082		 Information and
awareness
£
-
-
4,441
1,158
-
-
11,361
8,591
798
3,356
-
116,133
428
6,338
205
481
779
154,069
27,656
181,725		 Support and
governance
£
-
2,820
36
-
-
1,851
312
-
-
3,126
-
47,542
-
34
625
79
-
56,425
(56,425)
-		 2025 Total
£
800
2,820
8,623
2,340
13,078
1,851
23,901
9,869
3,715
16,855
5,000
284,485
809
22,120
1,114
1,972
2,848
402,200
-
402,200

Governance costs were £4,671 (2024: £5,028).

The Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

7. Total expenditure (continued) Prior year comparative

Independent examination and accountancy
Computer expenses
Depreciation
Event costs
Insurance
Office costs and rent
Postage and distribution
Printing and design
Professional fees
Project costs
Staff costs (note 9)
Stationery
Subscriptions, licences and charges
Training and other staff costs
Travel and subsistence
Website and database development
Sub-total
Allocation of support and governance costs
Total expenditure		 Raising funds
£
-
670
126
-
-
2,268
126
-
-
-
32,716
71
14,598
18
9
-
50,602
4,320
54,922		 Family support
£
-
3,972
729
9,640
-
12,680
955
1,932
-
5,225
91,942
500
510
56
1,038
1,486
130,665
24,963
155,628		 Information and
awareness
£
-
3,488
546
-
-
8,788
8,385
-
-
5,000
107,528
414
5,313
327
273
307
140,369
18,723
159,092		 Support and
governance
£
2,640
-
-
-
2,388
312
-
-
1,878
-
40,630
-
13
30
115
-
48,006
(48,006)
-		 2024 Total
£
2,640
8,130
1,401
9,640
2,388
24,048
9,466
1,932
1,878
10,225
272,816
985
20,434
431
1,435
1,793
369,642
-
369,642

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

8. Net movement in funds

This is stated after charging:

Depreciation
Trustees' remuneration
Independent examiners' remuneration (excl. VAT)
Trustees' reimbursed expenses		 2025
£
2,340
Nil
Nil
2,350		 2024
£
1,401
Nil
Nil
2,200

No trustees were reimbursed for expenses in the current or prior period.

9. Staff costs and numbers Staff costs were as follows:

Salaries and wages
Social security costs
Pension contributions
Redundancy and termination payments		 2025
£
232,404
14,388
8,610
29,083
284,485		 2024
£
232,748
16,968
9,239
13,861
272,816

No employees had a base salary above £60,000 in either the current or prior year. During the year, one employee's total earnings, including redundancy / termination payments were between £70,000 and £80,000.

The key management personnel of the charity comprise the trustees, the Chief Executive and the Chief Operating Officer. The total employee benefits comprising gross wages, employer pension contributions and employer NI contributions received by the charity's key management personnel in the period was £111,866 (2024: £117,172).

During the year, a termination payment totalling £29,083 was paid to an employee (2024: redundancy payments totalling £13,861 were paid to two employees). No amounts were outstanding at year end.

Average staff head count
Average full time equivalent		 2025
No.
9
6		 2024
No.
9
6

10. Taxation

The charity is exempt from corporation tax as all its income is charitable and is applied for charitable purposes.

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

11. Tangible fixed assets

Cost
At 1 April 2024
Additions
Disposals
At 31 March 2025
Depreciation
At 1 April 2024
Charge for the year
On disposals
At 31 March 2025
Net book value
At 31 March 2025
At 31 March 2024
12. Investments
At 31 March 2024 and 31 March 2025		 2025
£
4,000		 £
14,344
2,328
(3,699)
Computer
equipment
12,973
12,229
2,340
(3,699)
10,870
2,103
2,115
2024
£
4,000

A Tracey Emin print was donated in 2005. The trustees have no immediate plans to sell the print and consequently it has been reported as a fixed asset investment in the accounts. The trustees are satisfied that the print is carried at an appropriate value at 31 March 2025.

13. Stock

Merchandise 2025
£
8,288		 2024
£
2,877

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

14. Debtors
Trade debtors
Prepayments
Accrued income
15. Creditors : amounts due within 1 year
Trade creditors
Accruals
Other taxation and social security
Pension creditor		 2025
£
152
8,275
7,192
15,619
2025
£
3,500
7,072
2,953
3,675
17,200		 2024
£
167
7,007
11,982
19,156
2024
£
-
5,645
4,123
4,241
14,009
16.
Tangible fixed assets
Investments
Net current assets
Net assets at 31 March 2025
Prior year comparative
Tangible fixed assets
Investments
Net current assets
Net assets at 31 March 2024
Analysis of net assets between funds		 £
-
-
74,865
74,865
£
-
-
37,842
37,842
Restricted
funds
Restricted
funds		 £
-
-
40,000
40,000
£
-
-
40,000
40,000
Designated
funds
Designated
funds		 General
funds
£
2,103
4,000
281,826
287,929
£
2,115
4,000
253,845
259,960
General
funds		 Total
funds
£
2,103
4,000
396,691
402,794
£
2,115
4,000
331,687
Total
funds
337,802

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

17. Movements in funds

Restricted funds
Family support services
Information and awareness
Database project
Hardware grant
Unrestricted funds
Designated funds:
Listening Ear Fund
Total designated funds
Total unrestricted funds
Total funds
General funds
Total restricted funds
Carers of Adults Outreach
Project		 £
11,629
434
25,779
-
-
37,842
40,000
40,000
259,960
299,960
337,802
At 1 April
2024		 £
26,850
8,550
13,093
1,650
19,881
70,024
-
-
397,168
397,168
467,192
Income		 £
(24,367)
(6,984)
-
(36)
-
(31,387)
-
-
(370,813)
(370,813)
(402,200)
Expenditure		 £
-
-
-
(1,614)
-
(1,614)
-
-
1,614
1,614
-
Transfers
between
funds		 £
14,112
2,000
38,872
-
19,881
At 31 March
2025
74,865
40,000
40,000
287,929
327,929
402,794

Purposes of restricted funds

Family support services

This is funding for our frontline services to families such as our Listening Ear telephone and email helpline and Regional Family Days. It includes grants received during the year from a number of funders and other trusts and foundations, kindly helping us to support families in regions across the UK as part of our wider service.

Information and awareness

These funds are provided by a number of charitable trusts and foundations, helping us to continue to increase our library of ‘practical’ information guides for families and supporting our work to provide families with specialist information as part of our wider service.

Database project

The Unique database contains all the precious information that our members have given us about their family’s rare chromosome or gene disorder and how they have been affected. It has enabled us to write the existing chromosome disorder guides that have helped so many and to match new members with families with similar conditions. Our existing database is no longer fit for purpose. We have been fundraising for the last couple of years to fund a new database that will have the capability to aid Unique’s work for many years to come, and now have sufficient funding to pay for the initial set up costs, data cleansing of the current data and maintenance fee for the first two years. We are in the final stages of planning prior to implementation of the project, so these funds will be spent during the 2025/26 financial year going forward.

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

17. Movements in funds (continued) Purposes of restricted funds (continued)

Hardware grant

These were two restricted grants given specifically to be used for the purchase of laptops for staff. A few of our laptops were too old to cope with the recent Windows 11 upgrade, so these grants were timely, much appreciated and enabled us to purchase two new laptops in 2024/25.

Carers of Adults Outreach Project

This was a grant made in February 2025 by Awards for All - England and is restricted to the use of a two-year project which will support parents of adults with rare chromosome or gene disorders (RCGD). During a recent consultation process, the need for supporting adult carers was identified as a priority. This project involves setting up a working group which will bring together families of adults with RCGD and co-design new support services to meet their needs. It will include up to 4 regional workshops as well as virtual drop-in-sessions, online information sessions and the setting up of WhatsApp groups. The learning from this project will help us better understand the needs of this section of our community and develop more long-term support for families throughout their journey, not just at the point of diagnosis.

Purposes of designated funds

Listening Ear Fund

The trustees have designated £40,000 from general funds to the charity's 'Listening Ear' project. This sum is to ensure that the Unique helpline, a frontline service providing expert response to first-time callers from the UK and around the world, would be staffed appropriately for at least part of each UK working day during each year. The fund will be spent if and when general funds are unavailable to cover the cost of running the service.

Transfers between funds

Transfers between funds reflect the capitalisation of expenditure relating to Hardware Grant items during the year.

Unique - Rare Chromosome Disorder Support Group

Rare Chromosome Disorder Support Group

Notes to the financial statements

For the year ended 31 March 2025

17. Movements in funds (continued) Prior period comparative

Restricted funds
Family support services
Information and awareness
Database project
Unrestricted funds
Designated funds:
Listening Ear Fund
Total designated funds
General funds
Total unrestricted funds
Total funds
Total restricted funds		 £
9,945
6,445
-
16,390
40,000
40,000
254,387
294,387
310,777
At 1 April
2023		 £
31,205
6,125
25,779
63,109
-
-
333,558
333,558
396,667
Income		 £
(29,521)
(12,136)
-
(41,657)
-
-
(327,985)
(327,985)
(369,642)
Expenditure		 £
11,629
434
25,779
At 31 March
2024
37,842
40,000
40,000
259,960
299,960
337,802

18. Related party transactions

During the year, the charity received donations from trustees, related charitable trusts of the trustees, and key management totalling £6,427 (2024: £1,563). No amounts were outstanding at year end.

Unique - Rare Chromosome Disorder Support Group

APPENDIX

Presentations

Unique memberships

APPENDIX

Unique - Rare Chromosome Disorder Support Group

Boards

Research project involvement

Research project advisory board/ partnerships

Academic and other papers

ACGS Position Statement on Rare Disease Genomic Testing. Submitted to J Med Genetics. Article written by GA4GH: https://www.ga4gh.org/news_item/ uncovering-and-overcoming-common-data-sharingchallenges-in-the-rare-disease-landscape/

Baple EL, Scott RH, Banka S, Buchanan J, Fish L, Wynn S, Wilkinson D, Ellard S, MacArthur DG, Stark Z. Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Nat Med. 2024 Jul;30(7):1823-1825. doi: 10.1038/s41591-024-03055-x. PMID: 38898121.

Dr Sarah Wynn, Prof Sian Ellard, Prof Emma Baple and Prof Rob Taylor. Rare disease genomic testing: promoting timely and equitable access. Comment in Bionews 11 November 2024. https://www.progress.org. uk/rare-disease-genomic-testing-promoting-timelyand-equitable-access/

Unique - Rare Chromosome Disorder Support Group

APPENDIX

Ellard, H., Clarke, A., Wynn, S. et al. Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation. Eur J Hum Genet (2024). https:// doi.org/10.1038/s41431-024-01636-5

Karen J. Low , Georgia Treneman-Evans, Sarah L Wynn, GenROC Study Consortium, Jenny Ingram. “They don’t know how to live with a child with these conditions, they can’t understand…”: The lived experiences of parenting a child with a genetic neurodevelopmental disorder. Health Expectations 2025

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. Accepted by Genetics in Medicine Open

Low KJ, Watford A, Blair P, Nabney I, Powell J, Wynn SL, Foreman J, Firth H, Ingram J. Improving the care of children with GENetic Rare disease: Observational Cohort study (GenROC)-a study protocol. BMJ Open. 2024 May 16;14(5):e085237. doi: 10.1136/ bmjopen-2024-085237. PMID: 38760043; PMCID: PMC11103197. https://bmjopen.bmj.com/content/14/5/ e085237.long

Perry, J., Bunnik, E., Rietschel, M., Bentzen, H. B., Ingvoldstad Malmgren, C., Pawlak, J., Chaumette, B., Tammimies, K., Bialy, F., Bizzarri, V., Borg, I., Coviello, D., Crepaz-Keay, D., Ivanova, E., McQuillin, A., Mežinska, S., Johansson Soller, M., Suvisaari, J., Watson, M., Wirgenes, K.,Wynn, S. L., Schicktanz, S. (2025). Unresolved ethical issues of genetic 8ounselling and testing in clinical psychiatry. Psychiatric genetics, 35(2), 26–36. https://doi.org/10.1097/ YPG.0000000000000385

Peter M, Hill M, Fisher J, Daniel M, McInnes-Dean H, Mellis R, Walton H, Lafarge C, Leeson-Beevers K, Peet S, Tapon D, Wynn SL, Chitty LS, Parker M. Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals. Eur J Hum Genet. 2024 Oct 3. doi: 10.1038/s41431-024-01700-0. Epub ahead of print. PMID: 39362995. https://www.nature.com/articles/ s41431-024-01700-0

Press Release for RNU4-2 paper in Nature (Unique are quoted): https://www.bdi.ox.ac.uk/news/ new-discovery-renews-hope-for-thousands-withneurodevelopment-disorders

McInnes-Dean H, Mellis R, Daniel M, Walton H, Baple EL, Bertoli M, Fisher J, Gajewska-Knapik K, HolderEspinasse M, Lafarge C, Leeson-Beevers K, McEwan A, Pandya P, Parker M, Peet S, Roberts L, Sankaran S, Smith A, Tapon D, Wu WH, Wynn SL, Chitty LS, Hill M, Peter M. ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service. Prenat Diagn. 2024 Apr;44(4):465-479. doi: 10.1002/pd.6537. Epub 2024 Mar 5. PMID: 38441167. https://obgyn.onlinelibrary. wiley.com/doi/10.1002/pd.6537

Morgan Daniel 1 2, Hannah McInnes-Dean 1 2 3, Wing Han Wu 1 2, Jane Fisher 3, Caroline Lafarge 4, Kerry Leeson-Beevers 5, Celine Lewis 6, Sophie Peet 7, Dagmar Tapon 8, Sarah L Wynn 9, Lyn S Chitty 1 2, Melissa Hill 1 2, Michelle Peter 1 2. Can an animation improve parents’ knowledge and how does it compare to written information? Development and survey evaluation of an animation for parents about prenatal sequencing (BJOG-24-1057) has been submitted by Morgan Daniel to BJOG: An International Journal of Obstetrics & Gynaecology. http://doi.org/10.1002/ pd.6792

Unique - Rare Chromosome Disorder Support Group

Year end: 31[st] March 2025

Author: Unique, The Rare Chromosome and Gene Disorder Support Group

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