We are an international Rare Disease, Patient Charity across 28 countrie
Action on Gilbert’s Syndrome has been in existence since 2003. Since t
The Adrenal Hyperplasia Network UK has been set up to provide support fo
The Addison’s Disease Self-Help Group is the support group for people
The Advocacy for Neuroacanthocytosis Patients was established in 2002 to
The Fellowship is a positive and sociable volunteer-run organisation tha
Transforming the lives of AKU patients; through patient support, communi
Welcome to Alpha-1 Awareness, a UK Charity that Supports people with AAT
The Alpha-1 UK Support Group is a not for profit organisation and regist
Alström Syndrome is an ultra rare recessively inherited genetic disorde
Acute Necrotizing Encephalopathy is a rare type of brain disease that oc
Annabelle's Challenge is the leading charity for vascular Ehlers-Danlos
ArchAngel MLD Trust was established to support medical teams around the
The AGSD-UK provides support and help for individuals and families affec
Bardet-Biedl Syndrome UK is the only registered charity supporting peopl
Our mission is to enable everyone who is affected by Batten disease to l
We provide information about Beckwith Wiedemann Syndrome, links with oth
We're the British Heart Foundation, and we fund research to keep hearts
We set up the website because we know how scary it can be once you have
Cambridge Rare Disease Network (CRDN) is a charity building a regional c
We have support groups around the UK and more are starting all the time.
Cavernoma Alliance UK (also known as CAUK) is a charity created for peop
The CdLS Foundation UK & Ireland is part of a Federation of CdLS fam
Our aim is to gain a better understanding of the CHAMP1 gene mutation. B
Charcot-Marie-Tooth disease (CMT), and the related disorders distal here
Our Charity (UK Registered 1165562) was established in February 2016 aft
Our roots begin in 1984, when we were originally called FISH (Family Inf
Children's Liver Disease Foundation is a leading charity.
Children’s Health Scotland is the only charity in Scotland dedicated t
CMDN was the UK's 1st charity dedicated to specialising in Mitochondrial
The CAH Support Group is run by people who, between them, have been livi
We’re a parent to parent support group that shares information about C
There is a lot of help and advice out there to help you, and families al
We are a charity supporting children, young people and their families af
Tay-Sachs and Sandhoff disease are genetic diseases which are terminal i
The Cystic Fibrosis Trust is the only UK charity dedicated to fighting f
We are a UK charity dedicated to providing information, understanding an
We decided to do something for Dercums Disease and the many rare disease
Diamond Blackfan Anaemia (DBA) is a rare bone marrow failure disorder, u
Dravet Syndrome UK is an independent UK charity dedicated to improving t
Our service was introduced to enhance the understanding of genetics with
Sickle cell disease is the name for a group of inherited conditions that
We are the only UK-wide charity actively supporting people touched by an
The FAP Gene Website was started in 2004 by Mick Mason in Melton Mowbray
FDSSUK is a charity which provides support for patients, carers and thei
"This closed group is for people diagnosed with Fibromuscular Dysplasia
As a support group partner of the Muscular Dystrophy UK, we are here to
This group exists to create a safe and supportive environment for parent
The Aplastic Anaemia Trust is the only charity in the UK that exists to
Genetic Disorders UK is a registered charity with a vision to improve th
The Gorlin Syndrome Group is a support network offering guidance and inf
The Haemophilia Society is the only UK wide charity for all those affect
Headlines is a charitable organisation based in the UK which aims to pro
The HSP Support Group helps people diagnosed with Hereditary Spastic Par
The Hereditary Multiple Exostoses (HME) Support Group is a voluntary, se
We're here to help people living with Huntington's disease to live a bet
We have been in existence since 2002 and we were know as HMSCTG, which s
The Ichthyosis Support Group (ISG) was formed in 1997 by a group of indi
The Inherited Prion Disease Support Network was founded to offer support
The Jeune Syndrome Foundation has been set up by a Jeunes family for Jeu
Kleefstra syndrome (Ks) is a rare genetic disorder characterised by inte
Klinefelter's syndrome is named after Harry F. Klinefelter (cline-felter
We are a patient-led support group for a rare condition called Leber's H
We are a group of families living with rare, genetic bleeding disorders
LSUK was founded in early 2014 by a group of people that met on a social
We set up our Charity, Making It Better - The Daniel Courtney Trust, in
This is a patient-centred service which delivers quality care to all our
Metabolic Support UK (formerly known as Climb) are the leading patient o
Muscular Dystrophy (MD) charity, rooted in family values, delivering tra
The Motor Neurone Disease Association is the only national charity in En
The Moebius Research Trust are raising funds to conduct research into Mo
The Mowat-Wilson Syndrome Syndrome Support Group was established in Marc
Have you ever thought of becoming a Trustee for our Charity group? Would
Muscular Dystrophy UK is the charity for the 70,000 people living with m
We are the National Deaf Children’s Society, the leading charity for d
Welcome to the nemaline myopathy (NM) website, the first and most compre
NSA is a registered charity – no. 1140671 – formed in 2011 and overs
The Osteopetrosis Support Trust was first formed in 1979. A mother of an
Phelan-McDermid Syndrome (PMS) is caused by a deletion, or loss, of the
PNH Support is a Charitable Incorporated Organisation (CIO) registered w
Prader-Willi syndrome (PWS) was first described in 1956 by Swiss doctors
Primary Ciliary Dyskinesia (PCD) is an inherited, relatively rare condit
Primary Immunodeficiency UK (PID UK) is an organisation supporting indiv
Our vision is to see a world without Primary Sclerosing Cholangitis (PSC
PTEN Hamartoma Tumour Syndrome (PHTS, often shortened to PTEN) is a rare
Supporting sufferers of Pseudoxanthoma ElasticumThe Pseudoxanthoma E
Rare Autoinflammatory Conditions Community - UK (RACC-UK) RACC -
Welcome to Ring20 Research and Support UK CIO which has been set up to s
We’re a new charity for those with rare salivary gland cancers such as
We think everyone should know about scleroderma. So we have created this
Sense is a national disability charity that supports people with complex
There is no exercise better for the heart than reaching down and lifting
Our Vision: Every person with Smith-Magenis Syndrome shall have a fulfi
TSA supports Timothy Syndrome and all other deleterious CACNA1C gene cha
Parent-led imformation resources and informed opinion about children and
If you or someone in your family has SMA, and you live in the UK, you h
Our son Ethan was diagnosed with Stargardt’s Disease in September 2015
We are a is non profit making organisation that provides information fo
This site is for the support of those suffering from Stiff Person Syndro
The Thalidomide Society offers thalidomide survivors, their families and
The British Porphyria Association (BPA) is a national charity for people
The Ehlers-Danlos Society is a global community of patients, caregivers,
Fragile X Syndrome is the most common inherited cause of learning disabi
The Gauchers Association provides support and advice to patients and the
The George Pantziarka TP53 Trust is the UK’s only charity dedicated to
Haemochromatosis UK is a patient organisation that was founded in 1991
The Lily Foundation is committed to finding a cure for mitochondrial dis
The Maddi Foundation is a non profit charity which was founded by the fa
The UK Mastocytosis Support Group provides support to people with mastoc
TRPS Support Group UK provides sympathetic support to those with trichor
Launched in 1977 with a membership of 50 families and funds of £25, the
The Society provides accurate and up-to-date information on Turner Syndr
Thalassaemia is one of a group of genetic blood disorders referred to as
In line with our Mission Statement above, we aim to act as an internatio
The Ultra Rare Diseases, Disorders & Disabilities Foundation (Urddad
The Williams Syndrome Foundation was formed as a Registered Charity in 1
WDSG-UK was founded in the year 2000 by Caroline Simms (PhD), and Linda
Wolfram Syndrome UK are the only support group and website in the UK for
We are a small voluntary not for profit organisation based on Isle of Bu
To offer support to other families affected by Worster-Drought Syndrome.
The Yellow Brick Road Project is a parent-led quest to cure HNRNPH2 muta