OUR MEMBERS

The AADC Research Trust

Welcome to The AADC Research Trust, a Charity Organisation dedicated to

Aarskog Foundation

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

Action Duchenne

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

Action on Gilbert's Syndrome

Action on Gilbert’s Syndrome has been in existence since 2003. Since t

adrenal hyperplasia network

The Adrenal Hyperplasia Network UK has been set up to provide support fo

Addison's Disease Self-Help Group

The Addison’s Disease Self-Help Group is the support group for people

Advocacy for Neuroacanthocytosis Patients

The Advocacy for Neuroacanthocytosis Patients was established in 2002 to

Pompe UK

albinism fellowship UK ireland

The Fellowship is a positive and sociable volunteer-run organisation tha

Alex TLC

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

alkaptonuria society

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

ALK Positive UK

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

Alpha-1 Awareness UK

Welcome to Alpha-1 Awareness, a UK Charity that Supports people with AAT

alpha-1 UK support group

The Alpha-1 UK Support Group is a not for profit organisation and regist

alport UK

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

Alström Syndrome UK

Alström Syndrome is an ultra rare recessively inherited genetic disorde

Amy and Friends

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

ANE international

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

aniridia network

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

annabelle's challenge

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

archangel MLD trust

ArchAngel MLD Trust was established to support medical teams around the

Angelman UK

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

association for glycogen storage diseases UK

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

ataxia UK

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

Bardet-biedl Syndrome UK

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

Barth Syndrome UK

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

batten disease family association

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

Beat SCAD

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

Beckwith-Wiedemann Support Group UK

We provide information about Beckwith Wiedemann Syndrome, links with oth

Behçet's UK

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

The MPS Society

The MPS Society is the only registered UK charity providing professional

BRCA Umbrella

british heart foundation

We're the British Heart Foundation, and we fund research to keep hearts

CADASIL Support UK

We set up the website because we know how scary it can be once you have

cambridge rare disease network

Cambridge Rare Disease Network (CRDN) is a charity building a regional c

Cardiomyopathy UK

We have support groups around the UK and more are starting all the time.

Cavernoma Alliance UK

Cavernoma Alliance UK (also known as CAUK) is a charity created for peop

CdLS Foundation UK and Ireland

The CdLS Foundation UK & Ireland is part of a Federation of CdLS fam

CGD Society

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

CHAMP1 Patient Support Group

Our aim is to gain a better understanding of the CHAMP1 gene mutation. B

Charcot-Marie-Tooth UK

Charcot-Marie-Tooth disease (CMT), and the related disorders distal here

The Children’s Hyperinsulinism Charity

Our Charity (UK Registered 1165562) was established in February 2016 aft

childhood eye cancer trust

Our roots begin in 1984, when we were originally called FISH (Family Inf

Children's Liver Disease Foundation

Children's Liver Disease Foundation is a leading charity.

Children’s Health Scotland

Children’s Health Scotland is the only charity in Scotland dedicated t

children's mitochondrial disease network

CMDN was the UK's 1st charity dedicated to specialising in Mitochondrial

CAH support group

The CAH (Congenital Adrenal Hyperplasia) Support Group was formed approx

costello support group international

We’re a parent to parent support group that shares information about C

cri du chat syndrome support group

There is a lot of help and advice out there to help you, and families al

Childhood Tumour Trust

We are a charity supporting children, young people and their families af

Cure And Action Tay-Sachs Foundation

Tay-Sachs and Sandhoff disease are genetic diseases which are terminal i

cystic fibrosis trust

The Cystic Fibrosis Trust is the only UK charity dedicated to fighting f

DC Action

DC Action is a charitable organisation focused on improving the understa

DDDC3G Renal Support Group UK

We are a UK charity dedicated to providing information, understanding an

Dercums Disease and Rare Disease Foundation UK

We decided to do something for Dercums Disease and the many rare disease

Diamond Blackfan Anaemia Support Group UK

Diamond Blackfan Anaemia (DBA) is a rare bone marrow failure disorder, u

Dravet Syndrome UK

Dravet Syndrome UK is an independent UK charity dedicated to improving t

East Lancashire Community Genetics Service

Our service was introduced to enhance the understanding of genetics with

east london branch sickle cell society

Sickle cell disease is the name for a group of inherited conditions that

Ehlers-Danlos Support UK

We are the only UK-wide charity actively supporting people touched by an

Elijah's Hope

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

fanconi hope

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

FAP gene support group

The FAP Gene Website was started in 2004 by Mick Mason in Melton Mowbray

Fibrous Dysplasia Support Society UK

FDSSUK is a charity which provides support for patients, carers and thei

Fibromuscular Dysplasia (FMD) Society

"This closed group is for people diagnosed with Fibromuscular Dysplasia

fight for sight

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

findacure

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

FND Hope UK

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

FSH Muscular Dystrophy Support Group

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

Fuchsfriends UK

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

funny lumps

Funny Lumps supports children and their families in Scotland living with

GATA2 Deficiency Support Group

This group exists to create a safe and supportive environment for parent

The Aplastic Anaemia Trust

The Aplastic Anaemia Trust is the only charity in the UK that exists to

Genetic Disorders UK

Genetic Disorders UK is a registered charity with a vision to improve th

GIST Support UK

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

gorlin syndrome group

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

HAE UK

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

haemophilia society

The Haemophilia Society is the only UK wide charity for all those affect

Headlines Craniofacial Support

Headlines is a charitable organisation based in the UK which aims to pro

hereditary spastic paraplegia group

The HSP Support Group helps people diagnosed with Hereditary Spastic Par

HME Support Group

The Hereditary Multiple Exostoses (HME) Support Group is a voluntary, se

HNPP UK

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

HPS Network UK

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

Huntingtons Disease Association UK

We're here to help people living with Huntington's disease to live a bet

Hypermobility Syndromes Association

We have been in existence since 2002 and we were know as HMSCTG, which s

Hypermobility Uk

We have been in existence since 2002 and we were know as HMSCTG, which s

ichthyosis support group

The Ichthyosis Support Group (ISG) was formed in 1997 by a group of indi

IIH UK

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

inherited prion disease support group

The Inherited Prion Disease Support Network was founded to offer support

jeune syndrome foundation

The Jeune Syndrome Foundation has been set up by a Jeunes family for Jeu

jnetics

Jnetics is a registered charity dedicated to improving the prevention an

KIF1A.org

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

kleefstra syndrome

Kleefstra syndrome (Ks) is a rare genetic disorder characterised by inte

Klinefelter Organisation UK

Klinefelter's syndrome is named after Harry F. Klinefelter (cline-felter

Krabbe UK

Leber's Hereditary Optic Neuropathy Society

We are a patient-led support group for a rare condition called Leber's H

Lipodystrophy UK

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

Local Families with Bleeding Disorders

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

LPLD Alliance

​​We raise awareness of FCS, and educate the public and health profe

Lynch Syndrome UK

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

Macular Society

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

make billy smile

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

making it better - the daniel courtney trust

We set up our Charity, Making It Better - The Daniel Courtney Trust, in

manchester sickle cell and thalassaemia centre

This is a patient-centred service which delivers quality care to all our

marfan trust

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

mast cell action

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

max appeal

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

MEBO Research

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

Metabolic Support UK

Metabolic Support UK (formerly known as Climb) are the leading patient o

Muscle Help Foundation

Muscular Dystrophy (MD) charity, rooted in family values, delivering tra

Motor Neurone Disease Association

The Motor Neurone Disease Association is the only national charity in En

moebius research trust

The Moebius Research Trust are raising funds to conduct research into Mo

mowat-wilson syndrome support group

The Mowat-Wilson Syndrome Syndrome Support Group was established in Marc

MPNG/DDD Support Group

Have you ever thought of becoming a Trustee for our Charity group? Would

Muscular Dystrophy UK

Muscular Dystrophy UK is the charity for the 70,000 people living with m

myotubular trust

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

naitbabies

Naitbabies are a small Charitable Incorporated Organisation run by famil

Narcolepsy UK

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

National Deaf Children's Society

We are the National Deaf Children’s Society, the leading charity for d

nemaline myopathy support group

Welcome to the nemaline myopathy (NM) website, the first and most compre

Nerve Tumours UK

The Neuro Foundation (Neurofibromatosis Association) provides crucial su

Niemann-Pick UK

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

NLRP12.com

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

NMO Spectrum-UK

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

noonan syndrome association

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

Noonan UK

Noonan UK supports those affected by Noonan Syndrome by providing inform

OcuMel UK

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

osteopetrosis support trust

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

PANS PANDAS UK

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

Parathyroid UK

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

pemphigus vulgaris network

Phelan-McDermid Syndrome UK

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

Pitt Hopkins UK

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

PNH Support Group

PNH Support is a Charitable Incorporated Organisation (CIO) registered w

Prader-Willi Syndrome Association UK

Prader-Willi syndrome (PWS) was first described in 1956 by Swiss doctors

PCD family support group

Primary Ciliary Dyskinesia (PCD) is an inherited, relatively rare condit

Primary Immunodeficiency UK

Primary Immunodeficiency UK (PID UK) is an organisation supporting indiv

PSC Support Group

Our vision is to see a world without Primary Sclerosing Cholangitis (PSC

PTEN UK and Ireland Patient Group

PTEN Hamartoma Tumour Syndrome (PHTS, often shortened to PTEN) is a rare

Pseudoxanthoma Elasticum Support Group

Supporting sufferers of Pseudoxanthoma Elasticum The Pseudoxanthoma E

Rare Autoinflammatory Conditions Community - UK (RACC-UK)

Rare Autoinflammatory Conditions Community - UK (RACC-UK) ​ RACC -

rare dementia support

Rare Dementia Support

Rett UK

Developing local support to help people with Rett syndrome communicate!

Reverse Rett

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

Ring20 Research and Support UK

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

SADS UK

Preventing loss of life from SADS, Sudden Death Highlighting cardiac

Salivary Gland Cancer UK

We’re a new charity for those with rare salivary gland cancers such as

Scleroderma and Raynaud's UK

We think everyone should know about scleroderma. So we have created this

sense usher service

Sense is a national disability charity that supports people with complex

Shwachman-Diamond Support UK

There is no exercise better for the heart than reaching down and lifting

The Smith-Magenis Syndrome (SMS) Foundation UK

Our Vision: Every person with Smith-Magenis Syndrome shall have a fulfi

SOFT UK

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

Timothy Syndrome Alliance (TSA)

TSA supports Timothy Syndrome and all other deleterious CACNA1C gene cha

special needs jungle

Parent-led imformation resources and informed opinion about children and

Spinal Muscular Atrophy UK

If you or someone in your family has SMA, and you live in the UK, you h

Spotlight YOPD

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

Stargardt's Connected

Our son Ethan was diagnosed with Stargardt’s Disease in September 2015

Stickler Syndrome UK

We are a is non profit making organisation that provides information fo

stiff person syndrome

This site is for the support of those suffering from Stiff Person Syndro

Tourettes Action

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

Thalidomide Society

The Thalidomide Society offers thalidomide survivors, their families and

the british porphyria association

The British Porphyria Association (BPA) is a national charity for people

The Ehlers-danlos Society

The Ehlers-Danlos Society is a global community of patients, caregivers,

the fragile x society

Fragile X Syndrome is the most common inherited cause of learning disabi

the gauchers association

The Gauchers Association provides support and advice to patients and the

George Pantziarka TP53 Trust

The George Pantziarka TP53 Trust is the UK’s only charity dedicated to

Haemochromatosis UK

Haemochromatosis UK is a patient organisation that was founded in 1991 

the lily foundation

The Lily Foundation is committed to finding a cure for mitochondrial dis

the maddi foundation

The Maddi Foundation is a non profit charity which was founded by the fa

The UK Mastocytosis Support Group

The UK Mastocytosis Support Group provides support to people with mastoc

Thyroid UK

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

TreatSMA

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

TRPS Support Group UK

TRPS Support Group UK provides sympathetic support to those with trichor

Tuberous Sclerosis Association

Launched in 1977 with a membership of 50 families and funds of £25, the

Turner Syndrome Support Society UK

The Society provides accurate and up-to-date information on Turner Syndr

UK LGLL

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

UK Thalassaemia Society

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

UKPIPS

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

Unique – Understanding Chromosome Disorders

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

The Ultra Rare Disease Disorders And Disabilities Foundation

The Ultra Rare Diseases, Disorders & Disabilities Foundation (Urddad

Vasculitis UK

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

VHL UK/Ireland

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

williams syndrome foundation limited

The Williams Syndrome Foundation was formed as a Registered Charity in 1

Wilson's Disease Support Group UK

WDSG-UK was founded in the year 2000 by Caroline Simms (PhD), and Linda

Wolfram Syndrome UK

Wolfram Syndrome UK are the only support group and website in the UK for

Womb Cancer Support UK

We are a small voluntary not for profit organisation based on Isle of Bu

Worster-Drought Syndrome Support Group

To offer support to other families affected by Worster-Drought Syndrome.

XLP Research Trust

David and Allison Hartley from Romsey, Hampshire, UK est

XP Support Group

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

Yellow Brick Road Project (YBRP) Inc

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