Resources for people affected by a rare condition

Organisations that can help you on your personal rare journey

SWAN UK

SWAN UK supports families affected by a syndrome without a name – a genetic condition so rare that it often remains undiagnosed.  They are the only dedicated support network for these families in the UK and are run by the charity Genetic Alliance UK. Visit SWAN UK’s website to learn more.

Genetic Alliance UK

Genetic Alliance UK is the largest alliance of organisations supporting people with genetic, rare and undiagnosed conditions in the UK. They advocate for fast and accurate diagnosis, good quality care and access to the best treatments. Genetic Alliance UK actively supports progress in research. They engage with decision-makers and the public on the challenges faced by the rare community. Visit Genetic Alliance UK’s website to learn more.

Rare Disease UK

Rare Disease UK is the national campaign for people with rare diseases and all who support them. They provide a united voice for the rare disease community by capturing the experiences of patients and families to raise the profile of rare disease across the UK. Rare Disease UK is focused on ensuring that patients and families living with a rare condition have equitable access to high-quality services, treatment and support. Visit Rare Disease UK’s website to learn more.

Unique

Unique informs, supports and alleviates the isolation of those living with a rare chromosome disorder, copy number variant or single-gene disorder associated with learning disability/developmental delay. They raise awareness of rare chromosome disorders and autosomal dominant single-gene disorders with professionals, decision-makers, policy-makers and the general public so that they too have an appreciation of the extraordinary challenges that the rare community face. Visit Unique’s website to learn more.

Metabolic Support UK

Metabolic Support UK is a leading patient organisation for Inherited Metabolic Disorders, supporting thousands of families worldwide. They provide bespoke support to families, signpost to the best experts, raise awareness amongst the medical, healthcare, social care and teaching professions and fund research for treatments to improve the lives of those affected by Inherited Metabolic Disorders. Visit Metabolic Support UK’s website to learn more.

Cambridge Rare Disease Network (CRDN)

Cambridge Rare Disease Network is a platform for change. It is the infrastructure that unites patients, advocates, experts and leaders to address the challenges faced by people affected by rare diseases. By sharing knowledge and experience, the journey towards better diagnosis, treatment and support for patients and their families is smoother and more certain. Visit CRDN’s website to learn more!

Gene People

Gene People, previously known as Genetic Disorders UK, is a registered charity with a vision to improve the lives of individuals and families affected by genetic conditions. They are a leading source of information and support for both those affected by a genetic condition and the charities and patient groups that support them. Gene People runs a Genetic Counsellor-led Helpline for those affected by a genetic condition and their families. They also support a Partnership Network of patient organisations working with those living with genetic conditions. Visit Gene People’s website to learn more.

EURORDIS

EURORDIS is a non-governmental patient-driven alliance of patient organisations representing 984 rare disease patient organisations in 74 countries. They are the voice of 30 million people affected by rare disease throughout Europe. EURORDIS’ mission is to build a strong pan-European community of patient organisations and people living with rare diseases. They are their voice at the European level. Visit EURORDIS’ website to learn more.

Rare Disease International (RDI)

Rare Diseases International (RDI) is the global alliance of Persons Living with a Rare Disease and families across the globe. RDI brings together national and regional rare disease patient organisations, as well as international federations and multi-stakeholder groups, to achieve greater equity for the global community of Persons Living with a Rare Disease. They advocate for rare diseases as an international policy priority through awareness-raising, policy promotion and international collaborations. Visit RDI’s website now to learn more.

Jnetics

Jnetics is a small charity that is making a real difference to the prevention, diagnosis and management of Jewish genetic disorders. They help anyone who is affected by Jewish genetic disorders or at risk to access the best information, services and support available. Visit Jnetics’ website to learn more.

Breaking Down Barriers (BDB)

Breaking Down Barriers is a growing network of over 50 organisations that are working together to improve the lives of families from diverse and marginalised communities to ensure that they have equal access to health services. BDB addresses health inequalities and is finding ways to make health services more inclusive and accessible for families. They share good practices and explore new ideas to help educate, empower and promote equity of access to mainstream health services. Visit BDB’s website now to learn more.

Contact

Contact is the charity for families with disabled children. They support families with the best possible guidance and information. Contact brings families together to support each other, and helps them to campaign, volunteer and fundraise to improve life for themselves and others. Visit Contact’s website to learn more.

Global Genes

Global Genes is a leading rare disease advocacy organization with global reach to the worldwide rare community of patients, caregivers, advocates and clinical partners. Global Genes’​ mission is to eliminate the challenges of rare disease through public and physician education, building community through social media and supporting research initiatives to find treatments for rare diseases. Visit Global Genes’ website to learn more!

WEGO Health

WEGO Health is a mission-driven company connecting healthcare with the experience, skills and insights of Patient Leaders. They are the world’s largest network of over 100,000 Patient Leaders, working across virtually all health conditions and topics. The WEGO Health network collaborates with pharmaceutical and life sciences companies, agencies, consultancies, start-ups and all types of organizations across healthcare. They offer enterprise and on-demand solutions that allow organizations to leverage the patient experience and expertise in the design, development and promotion of their products and services. Visit WEGO Health’s website to learn more!

European Patients’ Academy on Therapeutic Innovation (EUPATI)

EUPATI provides education and training to increase the capacity and capability of patients and patient representatives. EUPATI helps patient leaders and patient groups to understand and meaningfully contribute to medicines research and development (R&D) to improve the availability of medical information for patients and other stakeholders. EUPATI is committed to changing the face of patient engagement through patient education. Visit EUPATI’s website to learn more!

Annual awareness days to get invovled in