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Action for XP

Action for XP (SCIO) is a UK based Registered Charity that exists to create, fund and implement global projects and initiatives to improve quality of life for patients and families affected by the very rare condition of Xeroderma Pigmentosum

Registered Charity No: SC045465

Alex The Leukodystrophy Charity

Alex, The Leukodystrophy Charity is all about delivering high quality support, advice, knowledge and care for those affected by one of the genetic leukodystrophies. The majority of these conditions cause progressive neurodegeneration, are largely untreatable and sadly terminal, and those affected deal with many common factors. Some of the less rare leukodystrophies already have established and reputable support groups providing excellent resources for sufferers and we signpost to these organisations and endeavour to work in partnership where possible. However, many of the very rare leukodystrophies have no support organisation working for them – Alex TLC focuses on the similarities caused by these conditions, embracing all affected within a community of Tender Loving Care.

Alström Syndrome UK

Alström Syndrome UK (ASUK) is a charity who provide information, support and advice for individuals affected, their families, carers and professionals. Alström Syndrome is a very rare genetic condition which can cause progressive blindness, loss of hearing and can lead to; heart and kidney failure, type 2 diabetes, liver dysfunction and associated problems. We endeavour to raise awareness, conduct pioneering research and enable further insights, treatments and monitoring through the AS multi-disciplinary NHS clinics.

Angelman UK

Angelman UK is a UK based charity supporting families affected by Angelman Syndrome (AS), a rare neurogenetic disorder causing poor mobility, seizures, little or no speech and poor sleep. Their main aims are to support families coming to terms with diagnosis and dealing with the challenges of life with AS; raising awareness of AS among health professionals and the general public and assisting individuals and organisations carrying out research into AS.

Ataxia and Me

Ataxia and Me, has a focus on `patients helping patients` to bring benefits to all affected by the rare neurological condition of Ataxia, which affects balance, speech and coordination. Although, the main focus is Ataxia - they also incorporate associated rare disease and movement disorders. The broad scope of this platform gives a more holistic view of the information available to benefit the wider community of people affected by this "life limiting" neurological, invisible condition.

Avery’s Hope

This organization is named for the founders' grandson, Avery Harris, who was born with Microvillus Inclusion Disease. Both Children's Hospital of Philadelphia and Children's Hospital of Pittsburgh have been instrumental in his care. This charity gives back by raising money for the families who find themselves at these hospitals and whose insurance doesn't come close to covering all of the expenses associated with rare GI diseases.

Bardet-Biedl Syndrome UK

Bardet-Biedl Syndrome UK is a voluntarily run charity aimed at protecting the health and promoting the welfare of persons affected by BBS, their families and carers. The charity also aims to advance the education of the medical and educational professions and the general public on the subject of BBS and its implications for the family.

Registered Charity No: 1181244 and SCO41839

Barth Syndrome Foundation

Barth Syndrome Foundation's vision is a world in which Barth syndrome no longer causes suffering or loss of life. Their mission is saving lives through education, advances in treatment and finding a cure for Barth syndrome.

Beacon for Rare Diseases

Beacon for Rare Diseases (formerly Findacure) is a UK charity building the rare disease community to drive research and develop treatments. We work to: empower patient groups to build their patient community, develop as a charity, and drive treatment research and development, and promote collaborations between rare disease stakeholders to facilitate treatment development for all. Beacon follows in the footsteps of William Bateson, the father of modern genetics, who reminded us that we should "treasure our exceptions".

Registered Charity No: 1149646
​@ rarebeacon

Cambridge Rare Disease Network

The Cambridge Rare Disease Network is a newly established charity working to build a regional community of people in Cambridgeshire to address the unmet needs of rare disease patients, their families and the professionals who work with them.

Registered Charity No: 1166365

CDH International

CDH International is the world's oldest, largest and leading Congenital Diaphragmatic Hernia charity, registered in 7 countries and supporting patient families in 84 countries. Our organization was created to help families of babies born with Congenital Diaphragmatic Hernia by providing support services, promoting research and raising awareness.

Champ1 Foundation

The CHAMP1 Foundation is an organisation created for parents of children with developmental delay, hypotonia, cerebral palsy, autism, and epilepsy among many other diagnoses as a result of a change in the CHAMP1 gene. Our vision is to find effective treatments and a cure for CHAMP1 disorders. Our mission is to improve the lives of those affected by CHAMP1 through clinical research, effective treatments, public awareness, early detection, family support and patient advocacy.

Childhood Tumour Trust

Childhood Tumour Trust is a charity that supports children, young people and their families affected by Neurofibromatosis type 1, by providing camps for children, days out for families and providing an online support group. They are campaigning to raise awareness and earlier diagnosis.

Registered Charity No: 1165777

Chronic Warriors

Our mission is to connect 1M people living with long-term illness, rare disease, or who are still undiagnosed. Our niche is social-emotional support—providing fun and connection for illness warriors worldwide! We believe in the power of connecting people across all diseases, because though our specific challenges may vary, we are ALL on an unexpected health odyssey and there is something special about finding others who “get it” and not having to journey alone!

Registered Charity No: 85-2622373


CMTUK (aka Charcot Marie Tooth United Kingdom) is the UK charity dedicated to supporting people living with Charcot Marie Tooth Disease.

Cure & Action for Tay-Sachs (CATS) Foundation

The Cure & Action for Tay-Sachs (CATS) Foundation is the only charity based in the United Kingdom dedicated to supporting families affected by Tay-Sachs and Sandhoff disease. The CATS Foundation provides vital services to families affected by these devastating diseases, which includes distributing information, providing vital equipment, respite trips, funeral funding and a support network for families and carers. The CATS Foundation are the nominated patient organisation for a ground breaking European gene therapy trial for Tay-Sachs and Sandhoff which is hoped may provide a viable treatment from these diseases.

Registered Charity No: 1144543

Cure CLCN4

Cure CLCN4 is a UK-based research charity aimed at furthering scientific research into CLCN4 condition, a rare genetic disease that causes intellectual disability and other problems such as epilepsy, behavioural disorders, movement disorders and microcephaly. Cure CLCN4’s main objectives are to provide support to CLCN4 affected families, raise awareness, and fund research for effective treatments for CLCN4 condition.


Our Foundation’s effort to find a cure for Leigh syndrome and other mitochondrial diseases is accomplished by funding the efforts of doctors and researchers who share our passion and relentless drive to fight this devastating disease. 100% of your donations are tax deductible and will go directly to research dedicated to mitochondrial diseases. Cure Mito Foundation is a 501(c)(3) nonprofit organization led by parents who volunteer their time to search for a cure.

Epilepsy Sparks

Epilepsy Sparks is the one and only global organisation of its kind: bridging the gap between neuro professionals, patients, scientists, employers, epilepsy charities - and the rest of the world! We empower people through education - providing up to date information about epilepsy and mental health comorbidities; making it interesting and less scary!

EURORDIS Rare Diseases Europe

EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of 929 rare disease patient organisations from 72 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe. ​

Fabry International Network (FIN)

FIN is as an umbrella organisation and representing over 54 countries and 62 patient associations around the world. Membership is free and open to any national patient organisation in which Fabry patients are represented. “ FINs vision is of a world where every single person affected by Fabry disease has the best quality of life possible through early diagnosis, treatment and cure”. FIN is fully committed to raise awareness in order to locate more Fabry patients, to advocate for better care and monitoring and to engage and empower developing Fabry communities.

FOP Friends

FOP Friends was founded by Chris and Helen, along with close family and friends after their son Oliver was diagnosed with FOP. Over the years, the charity has grown into a nationally and internationally recognised organisation. We support patient and their families who are living with FOP. We fundraise to support the FOP research team at the University of Oxford, led by Professor Alex Bullock. We aim to raise awareness of FOP to help reduce the time to diagnosis and also misdiagnosis. We also organise events to connect people within the community so they don’t feel quite so isolated.

Gene People

The genetic conditions support network. Supporting individuals and families affected by throughout their diagnosis journey of a genetic condition. Supporting individuals and families affected by genetic conditions. Join us in our mission to enrich the lives of those affected by a genetic condition today by signing up to hear about our fundraising appeals.

Registered Charity No: 1141583

Genetic Alliance UK

Genetic Alliance UK is the largest alliance of organisations supporting people with genetic, rare and undiagnosed conditions in the UK. Their members and the people they support are at the heart of everything they do. They advocate for fast and accurate diagnosis, good quality care and access to the best treatments. They actively support progress in research and engage with decision makers and the public about the challenges faced by our community. They run two long-standing projects: -Rare Disease UK: A campaign focused on making sure the new UK Rare Diseases Framework is as successful as possible, and to ensure that people and families living with rare conditions have access to a final diagnosis, coordinated care and specialist care and treatment. -SWAN UK: The only dedicated support network in the UK for families affected by a syndrome without a name – a genetic condition so rare it often remains undiagnosed.

Registered Charity No: 1114195 & SC039299

Global Liver Institute

Our Origin: Donna Cryer received a life-saving liver transplant in law school after years of living with an autoimmune disease. On the 20th anniversary of her transplant, she realized her experience as a patient, lawyer, and professional health systems consultant could help fellow patients. In 2014, she founded Global Liver Institute. Our Values: Patient-centeredness. Collaboration. Integrity. Inclusion. Results. Our Mission: To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases. Our Vision: For liver health awareness to be universal and for liver disease to take its proper place on the global public health agenda consistent with its prevalence and impact.

Registered Charity No: A 501(c)(3) non-profit organization based in Washington, DC

Help 4 HD International

Help 4 HD's mission is to educate the world about Huntington's disease and Juvenile Huntington's disease. The aim is to serve their community and provide information, education, and resources. Help 4 HD's goal is to continue establishing strong roots in the underserved communities and to seek out new underserved areas to educate, help, and serve. Help 4 HD envisions a world where everyone knows what Huntington’s disease and Juvenile Huntington's disease is; a world in which compassion is a normal response to the devastation that this horrific disease bestows on everyone. This can only be accomplished through positive education and advocacy efforts.

Hope for HH

Hope for Hypothalamic Hamartomas-UK (Hope for HH-UK) is a volunteer-run charitable trust registered in the UK, founded by sufferers and parents of children with hypothalamic hamartomas (HH). Our goal is to create a single, credible source for information about the diagnosis, treatment, and support of individuals with HH and to caregivers and healthcare providers. We promote research into early detection, improved treatments, living with HH as a complex medical syndrome, and a cure.

Huntington’s Disease Youth Organization (HDYO)

HDYO provides support, education and empowerment to young people and families impacted by Huntington’s Disease.


IFOPA is a non profit organisation. They fund research to find a cure for fibrodysplasia ossificans progressiva (FOP) while supporting, connecting and advocating for individuals with FOP and their families, and raising awareness worldwide.

Jeans for Genes

The Jeans for Genes campaign raises awareness of the daily challenges and triumphs of those living with a genetic disorder. Funds raised by Jeans for Genes fundraisers are distributed via our grants programme to our carefully selected charity partners who put the money to work to change the lives of those across the UK with a life-altering genetic disorder.

Jordan’s Guardian Angels

Jordan's Guardian Angels aims to conduct research seeking answers to rare genetic mutations affecting children and adults, and assist and improve the quality of life for children and families. The story began with one family and their beautiful little girl and today the foundation has united hundreds of families across the globe.

KBG Foundation

The KBG Foundation is a patient-led organization devoted to supporting families affected by KBG Syndrome, as well as contributing to research into potential treatments. KBG Syndrome is a rare genetic disorder caused by a mutation on the ANKRD11 gene, associated with a spectrum of challenges, including developmental delays, cognitive disabilities, behavioral disorders, seizures, hearing loss, skeletal anomalies, autism. heart complications and gastrointestinal problems. Most people with KBG share at least some physical traits, including a triangular face, heavy eyebrows, curved fingers and spine, and short stature. The KBG Foundation formed in 2015, when the founder’s son was diagnosed through genetic testing, and she was informed there were only about 60 known cases worldwide. Since then, the Foundation has identified nearly 600 patients, largely through the patient support Facebook page. We have fostered a community where people turn for support and ideas. Separately, we run a “KBG professionals” page where clinicians and others can turn for information without compromising the privacy of our patients and families.

Matthews Friends

Matthews Friends are a UK registered charity (since 2004) specialising exclusively in medical Ketogenic Dietary Therapies. We support patients, families and professionals by providing information, training, research and grants to develop Ketogenic services and support systems for drug resistant (refractory) epilepsy as well as other neurological and metabolic disorders and emerging cancer types. Our charity is supported by key medical experts so as to ensure the safety and efficacy of our information.

Registered Charity No: 1108016


Your medical information. On you. Keeping you safe. Providing you with peace of mind. The MedicAlert Foundation UK & Ireland is the only UK charity that provides peace of mind to anyone living with a medical condition, allergy or other health need. By providing access to their vital personal medical information in an emergency. Medical IDs, worn on pulse points, can be lifesaving for anyone living with medical conditions in an emergency. The peace of mind they provide can support confidence to be more active physically and join in socially. Friends and family also benefit from knowing their loved ones are safe. With medical records accessible via our 24/7 Emergency Line. We employ Registered Nurses to check these records so that medical professionals can rely on them to quickly select the right treatment option in an emergency.


This medics4rarediseases group aims to bring medical students and medics into contact with both patients and clinicians in order to educate on rare diseases. By educating future doctors we can increase early recognition and diagnosis of rare diseases. Identifying and understanding the biological cause of extreme inherited conditions is helping in the research of treatment for common diseases too – a process known as “translational medicine”.

Registered Charity No: 1166365

Metabolic Support UK (MSUK)

Metabolic Support UK are the leading international organisation for Inherited Metabolic Disorders (IMDs), supporting thousands of patients worldwide through providing individual support, building patient communities, and continually advocating for and empowering those living with IMDs.

Myhre Syndrome

Myhre Syndrome is a rare genetic disease first described by Dr. Selma A. Myhre, an American pediatrician, in 1981. In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. Myhre Syndrome Foundation is dedicated to serving Myhre Syndrome families by providing a network of hope and support and collaborating with scientific and medical communities to encourage and fund promising research. Our goals are simple: - To educate the public and the medical community to ensure early diagnosis and proper treatment. - To promote safe and effective treatments through advocacy, research funding and a comprehensive patient registry. - To provide a caring and supporting community for Myhre patients and families.

Myrovlytis Trust

The Myrovlytis Trust was founded in 2007 to promote research into rare diseases, and advance education of the public in medical and molecular genetics. With an initial focus on the rare genetic condition Birt-Hogg-Dubé Syndrome and the rare cancer osteosarcoma, our mission is to drive research, provide support and improve outcomes for rare disease patients and their families.

National Organization for Rare Disorders (NORD)

The National Organization for Rare Disorders (NORD) is the leading independent advocacy organization representing all patients and families affected by rare diseases in the United States. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. Since then, the organization has led the way in voicing the needs of the rare disease community, driving supportive policies, furthering education, advancing medical research, and providing patient and family services for those who need them most. Together with over 300 disease-specific member organizations, more than 15,000 Rare Action Network advocates across all 50 states, and national and global partners, NORD delivers on its mission to improve the lives of those impacted by rare diseases.

NCBRS Worldwide Foundation

The NCBRS Worldwide Foundation is a nonprofit organisation that aims to support and educate families, carers and professionals who work with people diagnosed with NCBRS. Together we will work to promote awareness and understanding of the syndrome. We advocate for scientific research that increases the medical knowledge of NCBRS and best treatments. Our vision is to create a global community where families, healthcare professionals and researchers work together to ensure that every person diagnosed with Nicolaides-Baraitser Syndrome has every opportunity to reach their full potential.


Neuroacanthocytosis (NA) is a group of ultra-rare, debilitating and progressive diseases that affect the basal ganglia part of the brain, often characterized by the presence of high levels of 'spikey'-red blood cells (acanthocytosis). As a result of cell death, many difficulties including involuntary muscle spasms causing abnormal movement and balance, slowness in thought and action and seizures may occur that impact daily life. NA Advocacy was formed to assist patients and families, promote international collaboration, fund research and establish a virtual database. Furthermore, the charity has supported nine global symposiums that bring together clinicians, researchers, families and patients in an effort to further treatments to alleviate the effects of NA and ultimately to find a cure.

Registered Charity No: 1133182

Neuromuscular Disease Foundation

​The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach and funding critical research focused on treatments and a cure.

Niemann-Pick UK (NPUK)

Niemann-Pick UK (NPUK) is a charitable organisation dedicated to making a positive difference to the lives of those affected by Niemann-Pick diseases. We raise much needed awareness, provide practical and emotional support, advice and information and facilitate research into potential therapies.

PBC Foundation

The PBC Foundation is the only UK organisation exclusively dedicated to providing support and information to those affected by Primary Biliary Cholangitis, an autoimmune liver condition with no known cause or cure. Our aims and objectives are to provide PBC sufferers with accurate, up-to-date information on PBC and support, while educating medical practitioners and driving research

Registered Charity No: SC207493

Pitt Hopkins UK

Pitt Hopkins UK are a newly registered charity. Their aims are to raise awareness of Pitt-Hopkins Syndrome (PTHS), particularly among the health professionals, and to support and advocate for families with a child with PTHS, while delivering the latest information. Pitt Hopkins UK also hope to fund future research in key areas which impact quality of life, such as - the breathing anomalies that many of the children and adults exhibit.

Registered Charity No: 1167153

Project Sebastian

Project Sebastian provides support, action, and awareness for all families affected by all rare diseases. Rare diseases claim the lives of most children and teens. While most people wait for a cure they have nowhere to turn to. With so many emotions, questions and uncertainty we offer a community group support system. We have realized that connecting with other families is a very important part of this journey and we will provide you with group meetings so that you can connect with others who are struggling just like you.

Rett UK

Rett UK is a national charity dedicated to supporting and empowering people with Rett syndrome and their families. They provide professional family-support services at local, regional and national level; educate health and social care professionals; advocate for people with Rett Syndrome and promote, support and encourage research into new therapies and treatments.

Ring20 Research and Support UK

Ring20 Research and Support UK are a non-profit making charitable organisation operating from the UK but who extend their support to families around the world affected by Ring Chromosomes 20 Syndrome. Ring20 raise funds for future research studies by way of member fundraising and seeking out opportunities for research grants and/or corporate sponsorship. They aim to represent r(20) patients and their families as a patient cohort to aid vital research, which may lead to improved quality of life and improved outcomes for those living with, or affected by r(20).

Registered Charity No: 1165651

Salivary Gland Cancer UK

A new charity (2019) for those with rare salivary gland cancers such as adenoid cystic carcinoma (ACC). The charity aims to build a UK-wide information and support network for people affected by these conditions. Giving opportunities to input into ground-breaking research projects and working to develop and improve access to the newest therapies. They are focused on patients and clinicians working together to drive research and increase knowledge.

Registered Charity No: 1182762

Schinzel-Giedion Syndrome Foundation

The Schinzel-Giedion Syndrome Foundation is a registered UK charity established in 2019 by an international group of parents of children with Schinzel-Giedion Syndrome (SGS). Our foundation has been created to represent children with SGS and their families living all around the world. Our mission is to provide support to families caring for a child with SGS, to raise awareness of SGS and to facilitate and support medical research that will help us find better treatments to improve the quality and length of life of children living with SGS. Our vision is for a future when all children with SGS will receive a rapid genetic diagnosis and have access to effective medical and gene therapies to ensure they live longer, healthier and happier lives.

Registered Charity No: 1186327
​@ schinzel_giedion_syndrome

TAPS Support

​We raise awareness of Twin Anemia Polycythemia Sequence and raise funds for research into twin complications. Our mission is to get equal, standardized care worldwide and make TAPS education a priority. We’re on top of the latest research and work together with researchers to break down the barriers of jargon so patients can successfully advocate for the standard of care they deserve.
​@ tapssupport

The Cavernoma Society

The Cavernoma Society is a UK-based charity run by volunteers. We support people affected by cavernoma - a rare lesion on the brain or spine which affects 1 in 600 people. We are working towards a cure and better management for cavernoma, but in the meantime we support those affected by offering guidance, support groups and events, reassurance, medical information, and counselling. As a member-led charity, we're constantly evolving our services and making sure we're delivering what our members need from us.

The Gauchers Association

The Gauchers Association is a registered charity that seeks to provide information about Gaucher disease and keep families and medical advisers up to date with latest research developments. They aim to encourage the availability of treatment including enzyme replacement therapy, keep families in touch for support and actively promote medical research into Gaucher disease.

Registered Charity No: 1095657

The Muscle Help Foundation

The Muscle Help Foundation is a small, niche, multi-award-winning family charity delivering transformational experiences in the UK called ‘Muscle Dreams’ for children and young people (aged 8-28 yrs) with the muscle wasting disease, Muscular Dystrophy (MD) and allied neuromuscular conditions. Find out more about their work, impact, their #powerof657 campaign and the difference you can make in helping them change lives and give hope.

Registered Charity No: 1096716

The Orphan Disease Center

We work closely with patient groups and foundations, pharma and biotech, and the academic community. We bring a unique set of programs to the table, enabling us to add value at any stage - from building the initial knowledge base to enabling therapeutic development. Through our grants, Programs of Excellence, JumpStart programs, and a number of new initiatives, the ODC seeks to drive therapeutic development for rare diseases. We help identify and fund the most promising therapeutics while also tackling obstacles present in rare disease drug development.

Timothy Syndrome Alliance

​Timothy Syndrome Alliance is a global community dedicated to improving the lives of those affected by a rare, genetic multisystem disorder caused by changes to a gene called CACNA1C which results in significant health concerns (cardiac, neurological, endocrinological and gastrointestinal). There are currently no treatment options. Our mission is to improve the diagnosis, treatment and care of CACNA1C-related disorders and to support the families of those diagnosed.

Registered Charity No: 1185523

Usher Syndrome Ireland

Usher Syndrome Ireland is a voluntary charity set up support, advocate, and fund global research to find a cure for this rare genetic disease with its main symptoms causing both hearing loss and progressive sight loss leading to deafblindness. Usher syndrome is the leading genetic cause for deafblindness for which there is no cure nor treatment.

Wolfram Syndrome UK

Wolfram Syndrome UK (WSUK) are the only charity and website in the UK for this ultra-rare condition. WS has four main features - Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness. The two features that should alert a medical professional to the possibility of WS are the Type 1 diabetes and vision loss or OA. No two patients are affected the same and there are many additional medical issues that an affected person can develop. As many medical professionals have never heard or come across the syndrome, it was felt the UK required a website where these professionals and families could find information and support that might be helpful to them. WSUK as a national charity help fund research and provide support for those affected by the condition and their families. We feel the more people that know about WS the better; and will endeavour to make sure that hospitals, doctors and other health care professionals are aware of this site.

Registered Charity No: 1152445
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