OUR MEMBERS

We are an international Rare Disease, Patient Charity across 28 countrie

Duchenne muscular dystrophy (DMD) is a rare and complex genetic muscle w

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

Alex, The Leukodystrophy Charity is a patient support group for patients

Transforming the lives of AKU patients; through patient support, communi

ALK Positive Lung Cancer (UK) is a registered charity established by pat

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

alport uk is a patient-led organisation dedicated to empowering people l

Alström Syndrome is an ultra rare recessively inherited genetic disorde

Our group was formed to facilitate the support of children and families

Acute Necrotizing Encephalopathy is a rare type of brain disease that oc

We are a support group and charity concerned with the rare genetic condi

Annabelle's Challenge is the leading charity for vascular Ehlers-Danlos

ArchAngel MLD Trust was established to support medical teams around the

Welcome to the website for Assert, the Angelman Syndrome Support Educati

The AGSD-UK provides support and help for individuals and families affec

Welcome to Ataxia UK. We are the leading national charity in the UK for

Bardet-Biedl Syndrome UK is the only registered charity supporting peopl

Barth syndrome is a rare genetic condition that mostly affects boys Mai

Our mission is to enable everyone who is affected by Batten disease to l

Beat SCAD is a patient-led charity whose vision is a world that understa

We provide information about Beckwith Wiedemann Syndrome, links with oth

Caring for all affected by this rare, complex and lifelong condition. P

The MPS Society is the only registered UK charity providing professional

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

The Chronic Granulomatous Disorder Society (CGD Society) is based in the

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

DC Action is a charitable organisation focused on improving the understa

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

Elijah's Hope is a non-profit organisation aimed at bringing together fa

We are a registered national charitable trust set up by parents of Fanco

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

Someone in the world goes blind every five seconds. Our mission is to s

7,000 rare diseases have been identified but only 400 have a licensed tr

FND Hope UK is a registered charity in England and Wales (no 1173607). W

As a support group partner of the Muscular Dystrophy UK, we are here to

Home Welcome to the website of Fuchsfriends UK a support group for thos

Funny Lumps supports children and their families in Scotland living with

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

This site is primarily for GIST patients and their carers. Most of the c

The Gorlin Syndrome Group is a support network offering guidance and inf

HAE is characterised by huge swelling of the tissues (angioedema) which

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

HNPP - Hereditary Neuropathy with liability to Pressure Palsies - is an

The HPS Network is offering a wallet-sized medical health alert card tha

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

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

Over the course of 2018 IIH UK will continue to work to ensure that we b

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

Jnetics is a registered charity dedicated to improving the prevention an

Our mission is to connect families and support research leading to treat

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

Lipodystrophies are disorders of adipose tissue (fat) characterized by s

We are a group of families living with rare, genetic bleeding disorders

Action FCS is the UK charity for people affected by Familial Chylomicron

LSUK was founded in early 2014 by a group of people that met on a social

The Macular Society is the leading charity fighting to end sight loss ca

This is Billy - My beautiful son. He suffers from a rare genetic conditi

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

What is Marfan syndrome Marfan syndrome is an inherited disorder of the

We will offer support to the mast cell disease community, their families

What are DiGeorge syndrome and Velo-Cardio-Facial Syndrome? Both of the

MEBO RESEARCH is proud to announce it has recieved a generous grant from

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 received charitable status in March 2006 and our charitable aims are:

Naitbabies are a small Charitable Incorporated Organisation run by famil

Supporting people with narcolepsy, their families, carers and others int

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

The Neuro Foundation (Neurofibromatosis Association) provides crucial su

Niemann-Pick diseases are a group of rare inherited lysosomal storage di

We are a campaign group for patients suffering from Familial Cold Autoin

"The Foundation is run on a strictly not-for-profit basis, with all moni

NSA is a registered charity – no. 1140671 – formed in 2011 and overs

Noonan UK supports those affected by Noonan Syndrome by providing inform

OcuMel UK is a registered charity run by eye cancer patients and family

The Osteopetrosis Support Trust was first formed in 1979. A mother of an

PANS PANDAS UK is a Charity which was established by a dedicated and det

Parathyroid UK is a small charity for people living with rare and hidden

Phelan-McDermid Syndrome (PMS) is caused by a deletion, or loss, of the

You probably know that Pitt-Hopkins Syndrome is a very rare syndrome. It

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 -

Rare Dementia Support

Developing local support to help people with Rett syndrome communicate!

Reverse Rett is a UK medical research charity working to speed treatment

Welcome to Ring20 Research and Support UK CIO which has been set up to s

Preventing loss of life from SADS, Sudden DeathHighlighting cardiac

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

SOFT UK was founded in 1990 by two mothers, Christine Rose and Jenny Rob

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

The charity for those with Young Onset Parkinson’s Disease (YOPD) run

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

Tourettes Action is a charity for the relief of people suffering from th

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

Thyroid UK is a charitable company working primarily within the United K

TreatSMA is a charity formed by a community of people with spinal muscul

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

The UK LGLL group has been set up to provide a central point for LGLL pa

Thalassaemia is one of a group of genetic blood disorders referred to as

UK Primary Immune-deficiency Patient Support, or UKPIPS as it is better

In line with our Mission Statement above, we aim to act as an internatio

The Ultra Rare Diseases, Disorders & Disabilities Foundation (Urddad

Vasculitis UK has been a Registered UK Charity since 1992. Charity No. 1

VHL UK/Ireland Charity Objectives: To relieve the charitable needs of p

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.

David and Allison Hartley from Romsey, Hampshire, UK est

The XP Support Group is a UK Charitable Trust whose aim is to relieve th

The Yellow Brick Road Project is a parent-led quest to cure HNRNPH2 muta