Bardet-Biedl Syndrome UK

What Bardet-Biedl Syndrome UK does

Bardet-Biedl Syndrome UK (BBS UK) is a registered UK charity (no. 1181244) and the only organisation dedicated to supporting people affected by Bardet-Biedl Syndrome in the United Kingdom. Founded in 1993 as LMBBS, the charity is user-led, governed by adults with BBS and parents of children with BBS, and serves over 700 diagnosed individuals along with their families, carers, and healthcare professionals. BBS is an ultra-rare multi-system genetic disorder affecting approximately 1 in 100,000 births, with manifestations including progressive vision loss, obesity, renal abnormalities, developmental delay, and learning disabilities.

BBS UK's core service portfolio comprises the Advice Service (advocacy across health, education, and social care), the BBS Clinics Service (NHS England-commissioned multi-disciplinary clinics at four UK centres: GOSH, GSTT, BCH, and QEH), an annual family conference (32nd edition in 2025), service user groups, and a suite of PIF TICK certified information publications. Additional support services include the Chris Humphreys Memorial Fund, IT Equipment Fund, and a counselling partnership with Rareminds. The organisation does not develop proprietary technology products; its infrastructure consists of a website, email, social media, and YouTube content.

The charity's revenue model is diversified across individual donations and fundraising events, restricted and unrestricted grants (BBC Children in Need, Genetic Disorders UK/Jeans for Genes), and pharmaceutical/biotech conference sponsorships (Rhythm Pharmaceuticals, Axovia Therapeutics). Services are provided free of charge to beneficiaries. The organisation is headquartered in Dovercourt, Harwich, Essex, with operations spanning England, Scotland, Wales, Northern Ireland, and the Republic of Ireland.

Name

Bardet-Biedl Syndrome UK

Legal name

Bardet-Biedl Syndrome UK

Website

https://bbsuk.org.uk

Company type

Private

Founded year

1993

Operating status

Operating

Headcount range

1–10 employees

Short description

Bardet-Biedl Syndrome UK is the only registered UK charity supporting people with Bardet-Biedl Syndrome, an ultra-rare genetic disorder. Founded in 1993, it serves 700+ affected individuals and families through NHS-commissioned clinics, advocacy, and community support services.

Ownership category

akta.pro rank

Headquarters

HQ city

Dovercourt, Harwich

HQ country

United Kingdom

HQ region

Europe

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

Personnel, Operations, Marketing or Sales, Infrastructure, Technology or R&D

Revenue model

1. Donations and Fundraising: Individual donations from members, supporters, and the public. Fundraising activities include challenge events (marathons, 10K runs), community fundraising, and direct donations through PayPal.
2. Grant Funding: BBS UK receives grants from charitable foundations and organizations including BBC Children in Need (3-year grant) and Genetic Disorders UK (Jeans for Genes grants programme). These grants fund specific programs and services.
3. Conference Sponsorship: Unrestricted educational grants from pharmaceutical and biotech companies (Rhythm Pharmaceuticals, Axovia Therapeutics) for annual conferences. These sponsorships cover event costs without influencing content.

Pricing tiers

Go-to-market motion1 record

Distribution channels3 records

Marketing channels9 records

Core offering

BBS UK is a user-led registered charity providing advocacy, advice, and multi-disciplinary clinic coordination for individuals and families affected by Bardet-Biedl Syndrome, a rare genetic disorder. The charity delivers an Advice Service for support across health, education, and social care; operates an NHS England-commissioned BBS Clinics Service across four UK specialist centres; and runs annual family conferences, information publications (PIF TICK certified), and transition support services for young people.

Product overview

BBS UK is a user-led charity providing a comprehensive suite of support services for individuals and families affected by Bardet-Biedl Syndrome. The core offerings include the Advice Service for advocacy across health, education, and social care; the BBS Clinics Service partnership with NHS England providing multi-disciplinary specialist clinics at four UK centres; the Annual Conference Weekend for community connection and education; Service User Groups for peer support and influence; Information Booklets (including Medical Information Handbook and transition resources) meeting PIF Tick standards; and Newsletters. Additional support services include the Chris Humphreys Memorial Fund for conference attendance, IT Equipment Fund for device access, and Rareminds Counselling Service. Young People's Services under the My Life My Future brand provide transition resources. BBS UK does not offer a technology product or software platform.

Differentiator

Problem solved

Functional benefit

Products and services

• Advice Service Provides dedicated support and advocacy for individuals with Bardet-Biedl Syndrome, helping people access the right local support across health, education, and social care. The service includes negotiating support packages, assisting with housing and benefits applications, and supporting future planning. Staffed by Social Workers and Advice Workers with the Manager (Rebecca Perfect), the service is free of charge to beneficiaries.
• BBS Clinics Service Commissioned by NHS England in partnership with Great Ormond Street Children's Hospital, Guys & St Thomas' Hospital, Birmingham Children's Hospital, and Queen Elizabeth Hospital Birmingham. Provides multi-disciplinary clinics offering Ophthalmologist, Nephrologist, Dietician, Clinical Psychologist, Geneticist, Speech and Language Therapist and Endocrinologist consultations in a 'one stop' annual visit. Free to BBS patients and their families.
• Annual Conference Weekend Annual family conference weekend bringing members of the BBS community together with researchers, clinicians, and other interested professionals for a weekend of learning, connection and shared experiences. Features inspiring speakers, research and clinical updates, personal stories, and networking opportunities. Free for BBS patients and immediate family (up to 4 adults), with children attending free. Held at Hilton Hotel Northampton with Zoom livestream for remote attendance.
• Rareminds Counselling Service Specialised counselling service for individuals aged 18+ with a diagnosis of Bardet-Biedl syndrome, delivered in partnership with Rareminds. Counsellors have undertaken additional training on counselling for rare diseases and the impact of BBS.
• Young People's Services (My Life, My Future) Transition toolkit designed to help young people with BBS achieve the best life possible, covering knowing about medical conditions, speaking up for myself, growing up wise, health relationships and lifestyle, emotions, fun and leisure, keeping safe, bullying, planning my future, and transfer to adult services. Developed in collaboration with Breaking Down Barriers using the T-KASH transition tools concept and funded through Genetic Disorders UK Jeans for Genes grants.
• Service User Groups Groups providing people living with BBS the opportunity to share their experiences, influence the work of BBS UK, and build wider understanding of the impact of living with the syndrome. Provides peer support and a voice in charity direction.
• Chris Humphreys Memorial Fund Provides financial support for first-time conference attendees who meet eligibility criteria including receipt of means tested benefits. Covers accommodation costs for up to two parents/carers or one adult with BBS and their personal assistant/carer.
• IT Equipment Fund Offers practical and financial support to assist with the purchase of devices including laptops, tablets and computers to support access to education, medical and social care appointments and social opportunities.
• Information Booklets and Publications Produced in accessible formats to meet diverse needs including Medical Information Handbook, Introducing Bardet-Biedl Syndrome, How Can We Help, Booklet for Schools and Colleges, Student Passport Template, My Life My Future Transition Handbook, and SEND and EHCP Factsheet. The organisation holds the PIF TICK demonstrating health information meets rigorous professional standards.

Quantifiable outcome

• Over 700 people diagnosed with BBS and their families supported
• +3 more outcomes

Named customers1 record

Segments3 records

Ideal customer profiles3 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Partnerships

Twelve partnerships are on record, tiered core, supporting, exhibitor and exhibitor/workshop.

• NHS EnglandcoreStrategic or Co-development PartnerBBS UK is commissioned by NHS England as third-sector partner to provide multi-disciplinary clinics for Bardet-Biedl syndrome patients. The charity provides database management, clinical service coordination, patient advocacy, engagement in service delivery, patient support, and information provision across four NHS specialist centres.
• Great Ormond Street Children's Hospital (GOSH)coreStrategic or Co-development PartnerGOSH is one of four NHS specialist centres providing multi-disciplinary BBS clinics for children. BBS UK representatives attend clinics providing emotional and practical support to patients and families.
• Guys & St Thomas' Hospital London (GSTT)coreStrategic or Co-development PartnerGSTT is one of four NHS specialist centres providing multi-disciplinary BBS clinics. Offers both standard outpatient appointments and telemedicine appointments for adult patients.
• Birmingham Children's Hospital (BCH) and Queen Elizabeth Hospital Birmingham (QEH)coreStrategic or Co-development PartnerBCH and QEH together provide NHS specialist multi-disciplinary BBS clinics for children (BCH) and adults (QEH) in the Birmingham area. BBS UK provides support services at these clinics.
• RaremindscoreStrategic or Co-development PartnerBBS UK partners with Rareminds (www.rareminds.org) to offer specialised counselling services for individuals aged 18+ with a diagnosis of Bardet-Biedl syndrome. Rareminds counsellors have additional training on counselling for rare diseases.
• Rhythm PharmaceuticalssupportingGTM or Marketing PartnerRhythm Pharmaceuticals provided an unrestricted educational grant to support the BBS UK annual conference. They have had no influence over the creation, development or content of the meeting.
• Axovia TherapeuticssupportingGTM or Marketing PartnerAxovia Therapeutics provided an unrestricted educational grant to support the BBS UK annual conference. Professor Phil Beales, Co-founder & CEO of Axovia Therapeutics, is also Medical Advisor to BBS UK since 1996 and founder member of BBS UK Scientific Advisory Board.
• Breaking Down BarrierssupportingStrategic or Co-development PartnerBBS UK collaborated with Breaking Down Barriers to develop the T-KASH transition tools concept, which inspired the 'My Life, My Future' transition booklet for young people with BBS.
• Royal National College for the Blind (RNC)exhibitorGTM or Marketing PartnerRNC exhibited at BBS UK annual conference as the UK's leading college for visually impaired young people aged 16-25, showcasing their specialist skills for life including mobility, assisted technology, and independent living.
• Guide DogsexhibitorGTM or Marketing PartnerGuide Dogs exhibited at BBS UK annual conference showcasing their Habilitation Service, Technology and Learning Service, and Family Outreach Support Service for people with sight loss.
• Retina UKexhibitorGTM or Marketing PartnerRetina UK exhibited at BBS UK annual conference. The charity is dedicated to working for people affected by inherited sight loss, offering helpline, peer support groups, and information services.
• Goalball UKexhibitor/workshopGTM or Marketing PartnerGoalball UK delivered practical sessions at BBS UK conference showcasing the Paralympic sport played by visually impaired people, with fun activities for all family members.

Scale indicators5 records

Recent moves6 records

Expansion highlights6 records

Direct peers

• Rareminds: UK charity providing counselling services tailored to people affected by rare diseases. Already a strategic partner of BBS UK delivering the Rareminds Counselling Service, and directly comparable as a rare-disease support specialist.
• Unique (Understanding Chromosome Disorders): UK charity providing support and information to families affected by rare chromosome disorders. Closely comparable operating model: small staff, free information booklets, peer networks, and member services for an ultra-rare disease community.
• Niemann-Pick UK: UK charity supporting people with Niemann-Pick disease, another ultra-rare progressive genetic disorder with multi-system involvement. Comparable in mission, NHS specialist clinic engagement, and reliance on donations and grants.
• SWAN UK (Syndromes Without A Name): UK-based support charity for families affected by undiagnosed and rare genetic conditions. Operates as a peer patient-advocacy organisation with similar NHS partnership patterns, information services, and family-support programmes.
• Prader-Willi Syndrome Association UK: UK charity supporting people with Prader-Willi Syndrome, a rare genetic disorder featuring hyperphagia and obesity — directly comparable to BBS in clinical overlap, beneficiary profile, and the role of obesity-focused therapeutics (Rhythm's setmelanotide).
• Alström Syndrome UK: UK charity supporting people with Alström Syndrome, another ultra-rare genetic disorder with overlapping multi-system features (vision loss, obesity, renal complications). Directly comparable in mission, scale (~9 staff-class charity), NHS commissioning model, and ultra-rare disease advocacy focus.

Broad incumbents

• Contact (for families with disabled children): Larger UK charity supporting families of disabled children across many conditions. Provides broader advice, benefits, and education support that complements BBS UK's specialist services.
• Genetic Disorders UK: National umbrella charity running the Jeans for Genes campaign that funds smaller disease-specific charities including BBS UK. Acts as a funder/incumbent across the UK rare genetic disorders space rather than a direct competitor.

Emerging players

• Retina UK: UK charity supporting people with inherited sight loss. Overlaps with BBS UK's vision-loss advocacy, has exhibited at BBS UK conferences, and shares tools such as helplines and peer support groups.

Regional players

• Bardet-Biedl Syndrome Foundation: US-based patient advocacy organisation for Bardet-Biedl Syndrome. Directly comparable mission and beneficiary population, but operates in North America rather than the UK — partnered with BBS UK through BBS Global Day.

Market position

Strengths4 records

Weaknesses4 records

Competitive moat5 records

Key risks5 records

Key highlights5 records

Customer concentration

• YouTubeyoutube.com/@bardet-biedlsyndromeuk2209
• Facebookfacebook.com/546759972144864
• LinkedInlinkedin.com/company/bardet-biedl-syndrome-uk

Revenue estimate

Valuation estimate

Number of profiles

Profiles11 records

Funding overview

Funding rounds

Investors

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M&A

Investments

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Frequently asked questions about Bardet-Biedl Syndrome UK