Rare Disease Groups & Organisations

https://www.addisonsdisease.org.uk/

Transforming the lives of those affected by adrenal insufficiencies by providing dedicated support, empowering individuals and families, raising awareness, and championing research to improve care and understanding.

https://nspku.org/

Transforming the lives of those affected by Phenylketonuria (PKU) by: providing dedicated support, empowering individuals and families, raising awareness, and championing research to improve treatment, care, and understanding of PKU.

https://www.achalasia-action.org/

Transforming the lives of people affected by achalasia by:
providing trusted support, empowering individuals and families, raising awareness, advocating for better care, and championing research to improve treatment and understanding.

https://haemophilia.org.uk/

Transforming the lives of people affected by bleeding disorders by: providing trusted support, empowering individuals and families, raising awareness, advocating for better care, and championing research to improve treatment and understanding.

https://bbsuk.org.uk/

Transforming the lives of those affected by Bardet-Biedl Syndrome by: providing dedicated support, empowering families, raising awareness, and championing research to improve care and understanding.

https://www.curegt.org/

Transforming the lives of those affected by G6PC3 Deficiency by: accelerating research, raising awareness, supporting families, and driving progress toward a cure.

https://panspandasuk.org/

PANS PANDAS UK: the only UK charity working to support people living with the neuropsychiatric conditions PANS and PANDAS

https://fopfriends.com/

Improving the lives of those affected by FOP by: supporting families, raising awareness, funding research, and working together for a cure.

https://www.haemochromatosis.org.uk/

Improving the lives of people affected by genetic haemochromatosis by: raising awareness, providing support and education, and driving research for better diagnosis and treatment.

https://www.fragilex.org.uk/

Improving the lives of individuals and families affected by Fragile X by: advancing research, raising awareness, providing support, and promoting better care and inclusion.

https://www.pfic.org/

Improving the lives of people affected by BRIC & PFIC by: accelerating research, providing information & support, and improving patient care.

https://pscsupport.org.uk/

Improving the lives of people affected by PSC by: accelerating research, providing information & support, and improving patient care.

https://www.naitbabies.org/#

Focused on the support, understanding, and management of Neonatal Alloimmune Thrombocytopenia (NAIT) to improve the lives of babies affected by NAIT, their families, those seeking information, and those navigating a diagnosis or living with its impact.

https://bloodcancer.org.uk/

https://childgrowthfoundation.org/

Focused on the support, understanding and management of rare growth conditions to improve the lives of children, adults and families with growth conditions, those with a concern and those seeking a diagnosis.

https://iamhh.org/

Support, awareness, and community for individuals affected by Kallmann Syndrome and CHH.

https://www.musculardystrophyuk.org/

Support, research, and advocacy for people affected by muscle-wasting conditions in the UK.

https://www.cavernomaireland.ie/

Support, information, and awareness for people affected by the vascular condition cavernoma in Ireland.

www.fpwr.org.uk

Research, support and education around the Genetic Disorder Prader–Willi syndrome

williams-syndrome.org.uk

Supporting families, carers and people with Williams Syndrome

rarechromo.org

Unique supports and informs anyone born with a rare chromosome disorder, their families and carers. Winners of Eurordis Patient Organisation Award 2016

tuberous-sclerosis.org

Research, support and education around the rare disease Tuberous Sclerosis Complex

tofs.org.uk

TOFS is a registered UK charity providing emotional support to people born with #TracheoOesophagealFistula and associated conditions

thalidomidetrust.org

We are a registered charity committed to ensuring that all our beneficiaries have access to the resources and support they need to maximise their quality of life

undiagnosed.org.uk

SWAN UK (Syndromes Without A Name) is run by @GeneticAll_UK offering support and information to families of children with undiagnosed conditions

shinecharity.org.uk

Supporting over 11,000 people living with or affected by #Spinabifida and #Hydrocephalus across England, Wales and Northern Ireland

pspassociation.org.uk

Helping people living with Progressive Supranuclear Palsy & Corticobasal Degeneration to live the best life they can

https://www.pseudomyxomasurvivor.org/

Pseudomyxoma Survivor is the network for survivors and care givers of the rare cancer, Pseudomyxoma Peritonei (PMP)

porphyria.org.uk

The BPA is a national charity for people with porphyria – a group of rare inherited disorders. The charity was established in 1999

naadvocacy.org

The Advocacy for Neuroacanthocytosis Patients was established in 2002 to support neuroacanthocytosis (NA) patients and to develop research aimed at alleviation of the disease

myaware.org

Myaware is the only national registered charity supporting people with myasthenia. We also fund research, specialist nurses and advisors

msatrust.org.uk

The UK’s leading charity supporting people affected by multiple system atrophy. We rely entirely on voluntary donations and fund research into MSA

mpssociety.org.uk

Support, Research and Awareness. The MPS Society UK is the only registered charity providing professional support to those affected by MPS and related diseases

mndassociation.org

Our vision is a world free from motor neurone disease

mrcg.ie

Medical Research Charities Group (MRCG). Umbrella org for Irish charities involved in health research

maxappeal.org.uk

Max Appeal! is a UK registered charity supporting families affected by DiGeorge syndrome, VCFS and 22q11.2 deletion

ukmasto.org

UK Mastocytosis Support Group Cutaneous Mastocytosis, Systemic Mastocytosis, UP, TMEP, IA, MCAS

marfantrust.org

Founded in 1988, the Marfan Trust funds research into the cause & prevention of Marfan syndrome, an inherited cardiac disorder which affects the eyes & skeleton

lamaction.org

LAM Action is the UK charity for women & families with Lymphangioleiomyomatosis (LAM) and doctors caring for women with LAM

jtsma.org.uk

ipposi.ie

Ensuring patients in Ireland have prompt access to new and developing health innovations

hypermobility.org

Supporting those with one of the following syndromes: Ehlers Danlos, Joint hypermobility, Marfan, Osteogenesis Imperfecta, Stickler syndrome and rarer disorders

hdani.org.uk

HDANI is a NI registered charity which supports people affected by Huntington’s disease. We provide support, information & advice to families and professionals

hdyo.org

Supporting children, teens and young adults, around the world, impacted & affected by Huntington’s disease

eurordis.org

EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of 812 rare disease patient organisations from 70 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe

facebook.com/EDSAwarenessIreland

To promote awareness of EDS and related conditions within Ireland and to reach out to those affected by the illness to give them support

clicsargent.org.uk

When cancer strikes young lives CLIC Sargent helps families limit the damage cancer causes beyond their health

brittlebone.org

The national charity that supports individuals and families affected by Osteogenesis Imperfecta (OI).

ataxia.org.uk

The leading national charity in the UK for people affected by any type of ataxia. We fund research into finding treatments and cures, offer advice, information and support.

angelmanireland.com

Angelman Syndrome as a rare disorder falls into all our lives out of the blue. This is our journey, our mistakes, challenges and high points.

22q11northernireland.co.uk

22q11 Northern Ireland is a registered charity which aims to raise awareness about 22q, and to support individuals and families affected by the syndrome.