GENETIC DISORDER CHARITIES & PATIENT GROUPS

22 Crew (The) 
UK charity supporting individuals and families affected by 22q deletion syndrome.

48 XXYY Family Support Group UK 
UK support group supporting those with 48 XXYY.

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Achondroplasia UK 
Support group providing mnon-medical professional information and support for families and children affected by achondroplasia.

Action Duchenne 
Charity that supports and funds innovative research to cure and treat those affected by Duchenne and Becker muscular dystrophy.

Action on Gilbert’s Syndrome 
Charity that provides up to date information on Gilbert’s syndrome.

Adrenal Hyperplasia Network UK 
Support group that provides support for all individuals (particularly adults and teenagers) affected by congenital adrenal hyperplasia (CAH).

Advocacy for Neuroacanthocytosis Patients 
Support groups that provide information and support to neuroacanthocytosis patients.

aHUS Action 
Support group supporting those affected by atypical haemolytic-uremic syndrome and campaigning for specialised NHS care.

aHUSUK 
Charity that supports individuals affect by atypical haemolytic-uremic syndrome and provides research information on the disorder.

Alkaptonuria Society (AKU) 
Charity that unites all people affected by alkaptonuria (patients, families and doctors).

Albinism Fellowship 
Support network that provides information, advice and support for people and their families affected with albinism.

ALD Life 
Charity that supports patients and families affect by adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN).

Alpha-1 Awareness UK 
Charity that aises awareness and supports those affected by alpha-1 antitrypsin deficiency (A1AT/AATD).

Alpha-1 UK Support Group 
Support group that connects and supports individuals and their families affected by alpha-1 antitrypsin deficiency (A1AT/AATD).

Alstrom Syndrome UK 
Charity that supports families and individuals affected by Alstrom syndrome and leading research throughout the UK and Europe aiming to treat and manage the condition.

Alternating Hemiplegia Support Group 
Self help group for patients with alternating hemiplegia.

Amy and Friends 
Charity that supports children and their families affected by Cockayne syndrome (CS).

Androgen Insensitivity Syndrome Support Group (AISSG) 
Support group that helps those affected by XX- female conditions such as: partial/complete androgen insensitivity syndrome, Swyer’s syndrome,  5-alpha reductase deficiency, Leydig cell hypoplasia, Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, mullerian dysgenesis, mullerian duct aplasia, vaginal atresia.

ASSERT (Angelman Syndrome Support Education and Research Trust) 
Charity that supports families and carers of individuals affected by Angelman syndrome and raising awareness about this condition through education and research.

Aniridia Network UK 
Support group and charity for people affected by aniridia.

Annabelle’s Challenge 
Charity that supports individuals affected by vascular Ehlers- Danlos syndrome (Vascular EDS).

Anorchidism Support Group (ASG) 
Support group aiming to provide support and information to all families affected by anorchidism.

Arthrogryposis Group (The) 
Charity providing support and information for arthrogryposis multiplex congenita (AMC).

Association for Glycogen Storage Disease Ltd (AGSD) 
Charity that provides support for individuals and their families affected by glycogen storage disease (GSD).

Association for Multiple Endocrine Neoplasia Disorders (AMEND) 
Charity that supports people affect by multiple endocrine neoplasia (MEN) types 1, 2 and 3 and other associated endocrine syndromes and tumours.

Ataxia UK 
Leading national charity for people with ataxia and their families and carers.

Ataxia – Telangiectasia Society (The) 
Charity that supports people affected by ataxia – telangiectasia (A-T).

ATR-X Support Group 
Support group for patients affected by Alpha Thalassemia.

Ark Centre (The) 
Medical education and conference facility built through charitable donation (Ark Medical Trust) used for conferences, seminars, and other events. Profits are distributed  for the benefit of medical education, training and research.

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Baby James’ Starlight Trust 
Charity raising awareness and funds for children affected by mitochondrial disease and other undiagnosed conditions.

Barth Syndrome Trust (BST) 
Charity that provides support and up-to-date information to those affected by Barth syndrome.

Batten Disease Family Association (BDFA) 
National charity that aims to support families, raise awareness and facilitate research into the group of neurodegenerative diseases known as Batten disease.

Beckwith – Wiedemann Syndrome Support Group (BWS-Support Group) 
Self-support group between families and doctors affected by Beckwith-Wiedemann syndrome (BWS) and promotes awareness for the disease.

Behcet’s Syndrome Society 
Charity that supports and represents those affected (diagnosed and non-diagnosed) by Behcet’s disease.

Breathtakers Charity
UK charity that supports individuals and their families affected by obligerative bronchiolitis.

British Porphyria Association 
Charity that connects and supports all those affected by porphyrias (acute porphyrias and cutaneous porphyrias).

Brittle Bone Society 
Charity that aims to connect and improve the quality of life of individuals affected by osteogenesis imperfecta (OI), also looking to work with other rare bone groups.

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Cardiac Risk in the Young (CRY) 
Charity that supports young people diagnosed with cardiac conditions and offers bereavement support to those affected by young sudden cardiac death (YSCD).

Cardiomyopathy UK 
Charity that supports those affected by cardiomyopathy.

Caring Matters Now 
Charity that provides information and support for people affected by congenital melanocytic naevi.

Cavernoma Alliance UK 
Charity that supports and informs those affected by cavernomas, otherwise known as cerebral cavernous malformations or cavernous angioma.

CCHS (Congenital Central Hypoventilation Syndrome) Support Group 
UK support group for those affected by Congenital Central Hypoventilation Syndrome.

CDKL5 UK 
Charity that provides information and resources for those affected by CDKL5 disorder.

Charcot-Marie-Tooth UK 
Chraity that supports people affected by Charcot-Marie-tooth disease.

CHARGE Family Support Group 
Support group that provides a supportive network for people with CHARGE syndrome and their families.

ChILD Lung Foundation 
UK and Irish charity that supports all affected by childhood Interstitial Lung Disease (chILD).

Child Growth Foundation (CGF) 
Charity that supports children and adults with growth disorders and their families.

Childhood Tumour Trust 
UK charity that supports children with Neurofibromatosis Type1

Children’s Mitochondrial Disease Network (The) 
UK charity that aims to provide information and support for all mitochondrial disorders.

Chromosome 18 Registry and Research Society (Europe) 
Support group that seeks to support individuals and family member affected by chromosome 18 abnormality.

Chronic Granulomatous Disorders Society (CGDS) 
Charity that provides a source of support for individuals and families affected by chronic granulomatous disorder in the UK.

Ciliopathy Alliance 
Charity that connects patient support groups, researchers, doctors and families living with and affected by ciliopathies.

Cleidocranial Dysplasia Support Group UK 
UK Support Group supporting those with Cleidocranial Dysplasia.

Cohen Syndrome 
Support group providing research, education and support for families affected by Cohen syndrome.

Congenital Adrenal Hyperplasia Support Group (Living with CAH) 
The CAH support group, is a subgroup of Climb, and looks to support families and sufferers of congenital adrenal hyperplasia.

Cornelia de Lange Syndrome Foundation UK and Ireland (The) 
UK and Ireland charity that aim for early and accurate diagnosis and later support for people affected by Cornelia de Lange syndrome (CdLS).

Corpal 
Non-profit support group and charity that supports those with agenesis of the corpus callosum (ACC) or Aicardi syndrome (AS).

Costello Kids 
Costello Kids is a parent to parents support group and charity that shares information about Costello syndrome (CS) with health providers worldwide.

Cri du Chat Syndrome Support Group 
Charity that provides information for families with children affected by cri du chat syndrome.

Crochane Cystic Fibrosis and Genetic Disorders Groups (The) 
International network of healthcare professionals, researchers and consumers reviewing trials and research in the treatment of cystic fibrosis, haemoglobinopathies, inborn errors of metabolism, inherited coagulopathies and other genetic disorders.

Cure & Action for Tay- Sachs (CATS foundation) 
UK based charity dedicated providing support for families affected by Tay-Sachs and Sandhoff diseases.

Cystic Fibrosis Trust (The) 
UK charity that aims to support people living with cystic fibrosis.

Cystinosis Foundation UK 
Charity that supports individuals, families and researchers affected by cystinosis.

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DebRA 
UK charity that supports individuals and families affected by epidermolysis bullosa (EB).

Diamond Blackfan Anaemia UK (DBA)
Charity that supports those affected by diamond blackfan anaemia (DBA), a rare blood condition.

Down’s Heart Group 
Charity that provides support and information for all those affected by heart conditions related to Down’s syndrome.

Down’s Syndrome Association 
Charity providing information and support to people with Down Syndrome and their families, carers and professionals across the UK.

Down’s Syndrome Research Foundation 
Charity that supports individuals diagnosed with Down’s syndrome.

Dravet Syndrome UK 
UK charity that is dedicated to improving the lives of individuals living with Dravet syndrome and other related genetic sodium channel epilepsies.

DSD Families 
Support and information resources for families, children and young adults with difference/disorders of sex development (DSD).

Duchenne Family Support Group (DFSG) 
Charity that supports individuals and their families affected by Duchenne muscular dystrophy (DMD).

Dwarf Sports Association UK 
Charity that promotes and encourages people affected by restricted growth to take part in sports.

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Ectodermal Dysplasia Society (The) 
Charity dedicated to improve the lives of those affected by ectodermal dysplasia (ED).

Ehlers-Danlos Support UK 
Charity that supports those living with Ehlers-Danlos syndrome.

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Facioscapulohumeral Muscular Dystrophy Support Group UK (FSH-MD) 
Charity and support group that aim to improve the quality of life of those affected by facioscapulohumeral muscular dystrophy (FSH-MD).

Familial Alzheimer’s Disease Support Group (The FAD support group) 
Support group reuniting and providing information and support to those affected by Alzheimer’s disease due to mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2) or amyloid precursor protein (APP) genes or APP duplications.

Familial Dysutonomia UK 
Charity providing information and support to those affected by Familial Dysautonomia.

Fanconi Hope 
Charity that supports those affected by Fanconi anaemia (FA).

FAP Gene Support Group 
Support group and reliable, easily understood, non-medical information source for those interested or affected by familial adenomatous polyposis (FAP).

Fibrous Dysplasia Support Society (FDSS) 
Support network for patients and families affected by fibrous dysplasia and McCune-Albright syndrome .

Floating Harbor Syndrome Global Support 
Support group for those patients and families affected by Floating Harbor Syndrome.

FOP Action 
Support group that provide advice and support to all those affected by fibrodysplasia ossificans progressiva (FOP).

FOPFriends 
Charity that aims to fund research, raise awareness and support those affected by fibrodysplasia ossificans progressiva (FOP).

Foyle Down Syndrome Trust 
Charity that encourages and enables children with Down’s syndrome to live independent lives.

Fragile X-Society (The) 
Charity that supports individuals and their families affected by fragile X syndrome.

FSH Support UK 
UK support group for those who have Facioscapulohumeral Muscular Dystrophy.

FuchsFriends UK 
UK support group for those affected by Fuchs’ Corneal Dystrophy.

Funny Lumps 
Support group that supports kids affected by neurofibromatosis and their families.

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Galactosaemia Support Group (The) 
Charity and support group offers contact and support to families affected by Galactosaemia.

Gary Woodward Dyskeratosis Congenita Trust (The) 
Charity supporting those who are affected by Dyskeratosis Congenita.

Gauchers Association 
Association that aims to promote awareness, research and support for those affected by Gaucher’s disease.

Genetic Alliance UK 
Genetic interest group, that aims to improve the lives of people affected by genetic disorders by making available services, contacts and information to those who need them.

George Pantziarka TP53 Trust (The) 
Support group that aims to provide support to families and individuals affected by Li Fraumeni syndrome and other TP53 disorders, to provide information to all, and to help further research into the condition.

Gorlin Syndrome Group 
Charity that supports those affected by Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome).

Gretton Homes 
Established in 1982, the Gretton homes group is renowned for its success in supporting people with Prader-Willi syndrome (PWS).

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Haemochromatosis Society (The) 
Charity that provides support for people affected by genetic haemochromatosis and their families, and encourages research into the condition.

Haemophilia Society (The) 
UK wide charity for all those affected by haemophilia and other bleeding disorders.

HAE UK 
Charity that supports and improves the lives of individuals affected by hereditary angioedema (HAE).

Headlines Craniofacial Support 
Charity that provides support and help to families affected by a craniofacial condition in the UK and overseas.

HEART UK 
Charity providing information and support about high Cholesterol, including the genetic disorder Familial Hypercholesterolaemia (FH).

Hereditary Multiple Exostoses Support Group (HME) 
Charity that supports people affected by hereditary multiple exostoses (HME, EXT, MHE, diaphyseal aclasis, familial bony spurs).

Hereditary Spastic Paraplegia Support Group – HSP (The) 
Charity that helps people diagnosed with hereditary spastic paraplegia (also known as familial spastic paraparesis).

Hermansky-Pudlak Syndrome Network UK 
Self-help support group for individuals and families dealing with Hermansky-Pudlak syndrome (HPS) and related disorders such as Chediak Higashi syndrome.

Hirschsprung’s Motility Disorders Support Network (HMDSN) 
Support group connecting families affected by Hirschsprung’s disease and other gastrointestinal motility disorders.

Histiocytosis Research Trust (The) 
Charity that provides support for children and adults battling histiocytosis, mainly through the funding of research.

HITS Worldwide 
Support group supporting families affected by the rare neurocutaneous disorder also known as Hypomelanosis of It, Incontinentia Pigmenti Achromians, Ito’s syndrome and or HMI (Pigmentary Mosaicism).

Holt-Oram Network 
Online support for those affected by Holt-Oram syndrome.

Huntington’s Disease Association 
Charity supporting families and individuals affected by Huntington’s disease (HD).

Huntington’s Disease Association Northern Ireland 
Charity that supports and provides information for families in Northern Ireland who live with Huntington’s disease.

Hyperekplexia Contact Group 
Support and contact group that aims to provide information and resources for all those affected by hyperekplexia.

Hypermobility Syndrome Association (HMSA) 
Charity that provides help and support to those affected by hypermobility syndromes in the UK and worldwide.

Hypermobility UK 
Charity that provides help and support to those affected by hypermobility syndromes in the UK.

Hypoparathyroidism UK (Hypopara UK) 
The UK’s only charity for adults and children living with a rare parathyroid condition, particularly hypoparathyroidism (or hypopara) which can be genetic or caused by surgery.

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Ichthyosis Support Group 
Charity that supports those affected by ichthyosis.

IIH UK 
Charity that provides information and support to families and patients affected by idiopathic intracranial hypertension.

Inherited Prion Disease Support Group 
Support group that connects, supports and informs all those affected by inherited prion disease.

Information Point for Centronuclear and Myotubular Myopathy 
Support network that aims to raise awareness, provide support and information to patients and their families suffering from centronuclear and myotubular myopathies.

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James Stewardson Research and Welfare Trust for Children with TPI (The) 
Charity that raises funds going towards the research of treatment and cure for triose phosphate isomerase (TPI) deficiency.

Jeune Syndrome Foundation (The) 
Support group that provides information and support to those affected by Jeune syndrome.

Jnetics (formally Jewish Genetic Disorders UK) 
Charity that is dedicated to improving the lives of those affected by jewish genetic disorders in the UK (ex: Bloom syndrome, Canavan disease, DYT1 generalised dystonia, familial dysautonomia, Fanconi anaemia, Gaucher’s disease, mucolipidosis IV, Niemann-Pick disease, Tay-Sachs disease, breast cancer, ovarian cancer, cystic fibrosis).

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Kallmann Syndrome Organisation 
Support group providing information, resources and support for people with Kallmann’s syndrome (belonging to group of conditions known as hypogonadotrophic hypogonadism).

Kabuki UK 
UK charity that supports families affected by Kabuki syndrome

KCNQ2 Cure 
Support group that supports people with early-onset epileptic encephalopathy (KCNQ2) and benign familial neonatal seizures.

Klinefelter Organisation 
A non-profit organisation that provides support and information to Klinefelter sufferers and their families.

Klinefelter’s Syndrome Association 
Charity that offers support and information to all affected by Klinefelter’s syndrome.

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Laurence-Moon-Bardet-Biedl Society (LMBBS) 
The only registered charity supporting those affected by Laurence-Moon-Bardet-Biedl syndrome.

Legacy Rainbow House (The) 
UK charity working with children with acquired brain injury, multiple disabilities and complex health needs.

Lily Foundation (The) 
Charity committed to finding a cure for mitochondrial disease through funding research, raising awareness and family support.

Lipodystrophy Support 
Offers support to those with lipodystrophy.

Little People UK 
Charity that supports people with restricted growth conditions.

Lowe Syndrome Trust 
Charity that supports children and their families affect by Lowe syndrome.

LPLD Alliance 
Patient led organisation for those affected by Familial Lipoprotein Lipase Deficiency.

Lynch Syndrome UK 
Charity that supports those affected by Lynch syndrome and their relatives.

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Maffucci and Olliers Association 
Support group formed to share information and experiences of Maffucci syndrome and Ollier’s disease (also known as Enchondromatosis).

Make Billy Smile 
Support group raising money and awareness for/about Alan-Herndon-Dudley syndrome.

Making it Better – Daniel Courtney Trust 
Charity raising funds for research and supporting those affected by microvillous atrophy.

Marfan Association UK 
Charity that provides support and information for individuals affected by Marfan syndrome.

Marfan Trust 
Charity that funds medical research provides information and supports those affected by Marfan syndrome and their families.

Marinesco-Sjorgen Syndrome Online Support Network
Online support network for families affected by Marinesco-Sjorgren Syndrome.

Max Appeal 
UK charity supporting families and children affected by DiGoerge syndrome, Velo-Cardio-Facial syndrome (VCFS) and 22q11.2 deletion.

Metabolic Support UK 
Charity that provides information, advice and support to young people, adults, families and professionals in the UK about inherited metabolic diseases.

Micro and Anophthalmic Children’s Society (MACs) 
UK national charity supporting children born without eyes or underdeveloped eyes (anophthalmia, coloboma and microphthalmia).

Moebius Research Trust 
Charity that supports families affected by Meobius syndrome and also funds research to find a cure.

Mosaic Down Syndrome UK 
Support group for families with children living with mosaic Down’s syndrome.

Mowat-Wilson Syndrome 
Support group that supports individuals affected by Mowat-Wilson syndrome.

MSD Action Foundation 
Charity working towards a cure for Multiple Sulfate Deficiency.

Muscle Help Foundation 
Charity that support children and young people with muscle wasting diseases, muscular dystrophy (MD) and allied neuromuscular conditions.

Muscular Dystrophy UK 
Charity that supports all those affected by muscle wasting conditions in the UK.

My Aware (formally Myasthenia Gravis Association) 
Charity that provides support people with myasthenia and their families, increase public and medical awareness of the condition and raise funds for research and support staff.

Myhre Syndrome Support Group 
UK support group for those affected by Myhre syndrome.

Myotonic Dystrophy Support Group 
Charity supporting those affected by myotonic dystrophy.

Myotubular Trust 
Charity that provides support for those affected by myotubular disease and funds research.

Myrovlytis Trust 
Medical research charity that promotes research into rare genetic kidney disorders, particularly Birt-Hogg-Dubé syndrome (also known as BHD syndrome.

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Nail-Patella Syndrome UK (NSPUK) 
Charity that provides information and support for families and individuals affected by nail patella syndrome (NPS).

Naitbabies 
Charity and non-profit organisation that provides information and supports families affected by foetal and neonatal alloimmune thrombocytopenia (FNAIT and NAIT).

National Society for Phenylketonuria (The) 
Charity that provides support, information and care for those affected by phenylketonuria through funding medical research.

Nemaline Myopathy Support Group 
Support group that supports families and individuals affected by nemaline myopathy.

Nephrotic Syndrome Trust (NeST) 
Charity that provides information, support and funds research to help all those affected by nephrotic syndrome.

Neuro Foundation – also Neurofibromatosis Association (The) 
Charity aiming to improve the lives and support those affected by neurofibromatosis.

Neuromuscular Centre (The) 
Charity that aims to improve the quality of life for adults and young people with muscular dystrophy.

Nicolaides-Baraitser Support Group UK 
Support group that supports children with Nicolaides-Baraitser syndrome.

Niemann-Pick Disease Group UK 
Charity that offers support and information for families affected by Niemann-Pick diseases.

Noonan Syndrome Association 
Charity that supports people and families affected by Noonan syndrome.

Northamptonshire Sickle Cell and Thalassaemia Support Group
Charity that raises funds and awareness to support individuals and their families affected by sickle cell and thalassaemia.

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Olliers Support
Organisation that provides information, advice, support and opportunities to meet and contact other families affected by Olliers disease and Maffucci syndrome (also known as Enchondromatosis).

OSCAR Birmingham 
The Organisation for Sickle Cell Anaemia Relief and Thalassaemia Support is a charity that aims to support individuals affected by sickle cell and thalassaemia disorders.

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Pachyonychia Congenita Project 
Pachyonychia Congenita Project (PC Project) is the international charity that supports families with the rare genetic skin disorder pachyonychia congenita. PC Project connects patients, researchers and physicians throughout the world in a united effort to help those with PC.

PCD Family Support Group 
The Primary Ciliary Dyskinesia support group is a charity that offers information and support for those affected by primary ciliary dyskinesia.

Pemphigus Vulgaris Network 
Non-profit support group that provides information and support for people living with pemphigus and their family and carers.

Phelan-McDermid Syndrome Foundation UK (PMSF) 
Charity that provides help and support to individuals affected by Phelan-McDermid syndrome (PMS) and their families.

Pitt Hopkins UK 
Support group that provides information and support to families and individuals affected by Pitt Hopkins syndrome (PTHS or PHS).

PiXiE – Pseudoxanthoma Elasticum Support Group 
Charity supporting sufferers of pseudoxanthoma elasticum (PXE).

Polycystic Kidney Disease Charity (PKD) 
Charity that supports adults and children in UK with polycystic kidney disease.

POPSY Charity 
Parents of Partially Sighted and Blind Youngsters (POPSY) is a charity that supports parents and carers of youngsters who are blind, have ‘special needs’ and with life-limiting conditions.

Potocki-Lupski Syndrome Outreach Foundation 
Charity supporting those affected by Potocki-Lupski syndrome (PTLS or Dup. 17p11.2).

Prader-Willi Syndrome Association UK (PWSA) 
Charity offering support and information for those affected by Prader-Willi syndrome and their families.

Primary Immunodeficiency UK (PID) 
Charity supporting families affected by primary immunodeficiencies.

Primary Sclerosing Cholangitis Support 
Charity that provides up to date information and support to individuals and their families affected by primary sclerosing cholangitis (PSC).

Proteus Family Network UK 
UK charity and support group for families and individuals affected by Proteus syndrome.

PTEN UK & Ireland Patient Group

UK and Ireland charity supporting people affected by PTEN gene alterations, PTEN Hamartoma Tumour Syndrome (PHTS), Cowden’s Syndrome (CS) or Bannayan-Riley-Ruvalcaba Syndrome (BRRS).

PUMPA 
The Purine Metabolic Patients’ Association is a charity that provides information and support those affected by one of 28 genetic metabolic purine and pyrimidine disorders.

PURA Syndrome 
International support group for those affected by PURA syndrome.

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Ragdolls UK 
Charity that funds research projects and support children and families affected by genetic disorders.

RareConnect 
RareConnect also provides online communities for many genetic disorder. To see whether they have a community supporting your condition please visit their website.

RASopathies Network UK and USA 
Support group supporting those affected by rasopathies including: CFC syndrome (CFCS), Costello syndrome (CS), neurofibromatosis type 1 (NF1) and Noonan syndromes.

Red Robin Trust (The) 
Charity that aims to support families and individuals affected by Maffucci syndrome and Ollier’s disease (also known as Enchondromatosis).

Restricted Growth Association (RGA) 
Charity that provides advice, guidance and support to all those affected by restricted growth.

Rett UK 
Charity that provides support and information for individuals affected by Rett syndrome and their families.

Reverse Rett UK (Rett Syndrome Research Trust) 
Charity that works to speed treatments and a cure for Rett syndrome and related MECP2 disorders.

Rhizomelic Chondrodysplasia Punctata Support Group 
Support group that supports and connects all those with rhizomelic chondrodysplasia punctata.

Ring20 Research and Support UK 
Support group supporting families, individuals and professionals who are affected by or who come into contact with ring chromosome 20 syndrome.

RP Fighting Blindness (formally British Retinitis Pigmentosa Society)
Charity that aims to fund research and support those affected by retinitis pigmentosa (and related conditions).

Rubinstein-Taybi Syndrome Support Group (RTS UK) 
Charity supporting all those with Rubinstein-Taybi syndrome.

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Save Babies Through Screening Foundation UK 
Charity that provides support for those affected by Krabbe disease and works to advance newborn screening in the UK.

Scottish Huntington’s Association (SHA) 
Charity that supports and connects families affected by Huntington’s disease in Scotland.

SENSE 
National charity that supports and campaigns for children and adults who are deafblind or have sensory impairments.

Shwachman Diamond UK 
UK Support group helping those with Shwachman-Diamond syndrome.

Sickle Cell and Young Stroke Survivors (SCYSS) 
Charity that holistically supports children, young people and their families affected by sickle cell anaemia and childhood stroke.

Sickle Cell Society 
Charity that provides help & support for people affected by sickle cell disorders and their carers.

Smith Magenis Syndrome Foundation UK 
UK charity that support families, who have children with Smith-Magenis syndrome and provides information for professionals working with these families.

Society for Mucopolysaccharide Diseases 
UK charity that supports individuals and their families affected by mucopolysaccharide (MPS), Fabry and related diseases.

SOFT UK (Support Organisation For Trisomy 13/18) 
Charity that supports all UK families affected by Patau syndrome (trisomy 13) and Edward’s syndrome (trisomy 18) and related disorders.

Sohana Research Fund 
Charity that supports those affected by epidermolysis bullosa (EB) and funds research into a cure for this disorder.

Solihull Down Syndrome Support Group 
Charity that supports children and young people with Down’s syndrome and their families.

Spinal Muscular Atrophy Syndrome Support UK 
Charity that supports those affected by spinal muscular atrophy.

Stickler Syndrome Support Group (SSSG) 
UK charity and support group that aims to provide support and information for families, healthcare professionals affected by or caring for people with Stickler syndrome.

Supporting CDKL5 
Support group and information website regrouping information about CDKL5 disorders.

SWAN UK (Syndromes Without A Name) 
Charity (initiative of Genetic Alliance UK) that offers support and information to families of children with undiagnosed genetic conditions.

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Telangiectasia Self Help Group 
The group helps those affected by Hereditary Haemorrhagic Telangiectasia.

TAR Syndrome Support Group 
Support group supporting families of children born with TAR syndrome.

Teddington Trust 
Support group providing support and information to those affected by xeroderma pigmentosum (XP).

Telangiectasia Self Help Group 
Self-help support group which aims to provide information (via newsletter) and support (via contact with other affected families) for all those affected by hereditary haemorrhagic telangiectasia (HHT) also known as Osler-Weber-Rendu disease.

Thyroid UK 
Charity that supports individuals affected by thyroid disease and related areas.

Treacher Collins Family Support Group 
Charity and support group that supports those affected by Treacher Collins syndrome and their families.

TRPS Support Group UK 
UK support group that provides support to those affected by trichorhinophalangeal syndrome (TRP) and their families.

Tuberous Sclerosis Association 
Charity providing support to families affected by tuberous sclerosis (TS) across the UK.

Turner Syndrome Support Society 
Charity that aims to provide support and information to all girls and women affected by Turner syndrome.

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UK Potsies 
A campaign and organisation dedicated to raising awareness of Postural Orthostatic Tachycardia syndrome (form of Dysautonomia) in the UK.

UK Thalassaemia Society 
UK charity that aims to raise awareness, fund research into, and support those affected by thalassaemia.

Unique – Rare Chromosome Disorder 
Charity that aims to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Usher Kids UK 
A network established to support, inform, connect and advocate for children diagnosed with Usher syndrome and their families.

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Wholesome Cells 
Support group that provides information and support to those affected by sickle cell disease.

Williams Syndrome Foundation 
Charity that funds research into the educational, behavioural, social, scientific and medical aspects of William’s syndrome.

Wilson’s Disease Support Group 
Support group and organisation aiming to provide information and support for those affected by Wilson’s disease.

Wolf Hirschhorn Syndrome Trust 
Charity supporting individuals and their families affected by Wolf Hirschhorn syndrome (WHS).

Wolfram Syndrome UK Support Group 
UK charity and support group providing contact, support and information to all families affected by Wolfram syndrome.

Worster-Drought Support Group 
Charity and support group that aims to raise awareness, support and provide information to those affected by Worster-Drought syndrome.

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XLH Network 
Worldwide support organisation for people living and dealing with x-linked hypophosphatemia (XLH).

XLP Research Trust 
Charity that supports those affected by x-linked lymphoproliferative syndrome (XLP) also known as Duncan’s syndrome by funding research.

XP Support Group 
Charity and support group that aims to support individuals with xeroderma pigmentosum and other UV and light sensitive conditions as well as their families.