Last updated on August 5th, 2024 at 06:31 pm
Genetic Condition Charities & Patient Groups
This directory is always being updated. If you are aware of changes to this list, please contact us via email hello@genepeople.org
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48 XXYY Family Support Group UK
UK support group supporting those with 48 XXYY.
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AADC Research Trust (The)
A Charity Organisation dedicated to helping children and their families affected by Aromatic Amino Acid Decarboxylase Deficiency (AADCd).
Aarskog Foundation (The)
The worlds largest international parent led, patient Charity for the X linked rare disease Aarskog Syndrome.
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.
Addison’s Self Help Group
Self help group set up to provide support for people affected by Addisons disease.
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 Alliance
Support group supporting those affected by atypical haemolytic-uremic syndrome and campaigning for global affordable treatment.
aHUSUK
Charity that supports individuals affect by atypical haemolytic-uremic syndrome and provides research information on the condition.
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.
ALK Positive Lung Cancer UK
A registered charity established by patients and their families to provide support and to improve the quality of life of ALK-positive lung cancer patients across the UK.
Alex The Leukodystrophy Charity
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).
Alport UK
A patient-led organisation dedicated to empowering people living with Alport Syndrome to enjoy the best possible quality of life.
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
Support group for families with children who suffer from Alternating Hemiplegia of Childhood and aid research to find a cure.
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.
ANE International
Organisation set up in 2016 by parents of children affected by Acute Necrotizing Encephalopathy.
Angelman UK
A UK-based support group to provide help and advice to patients and families affted by Angelman Syndrome.
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.
Archangel MLD Trust
Trust established to support medical teams around the world who are working to help people with Metachromatic Leukodystrophy (MLD).
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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Bardet-Biedl Syndrome UK (BBS UK)
The only registered charity supporting those affected by Bardet-Biedl syndrome.
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.
Beat SCAD
A charity that increase awareness and provide support to patients diagnosed with Spontaneous Coronary Artery Dissection (SCAD).
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 Obliterative 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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CADASIL Support UK
Charity that raises awareness of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy).
CAH support group
Support group to raise funds, increase awareness and give support to everyone living with CAH.
Cambridge Rare Disease Network
Charity addressing unmet needs of those living with rare conditions and their families. Their vision is for a united regional voice underpinning the development of services and treatment.
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 condition.
CdLS Foundation UK & Ireland
A family support organistion which exists to ensure early and accurate diagnosis of Cornelia de Lange Syndrome throughout the world, promoting research.
CGD Society
A charity that supports individuals and families affected by Chronic Granulomatous Disorder (CGD) in the UK.
CHAMP1 Patient Support Group
A patient support group connecting families worldwide affected with the CHAMP1 gene mutation.
Charcot-Marie-Tooth UK
Charity 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 conditions and their families.
Childhood Eye Cancer Trust (The)
A UK charity dedicated to provide support, fund research and help people affected by retinoblastoma, a rare form of eye cancer.
Childhood Tumour Trust
UK charity that supports children with Neurofibromatosis Type1
Children’s Hyperinsulinism Charity (The)
Small charity that supports the families of all children and young adults living with congenital hyperinsulinism.
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 condition 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 on Facebook 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 conditions.
Cure EB
Charity that supports those affected by epidermolysis bullosa (EB) and funds research into a cure for this condition.
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 bone marrow failure condition.
dhg (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 Society (The)
The Ehlers-Danlos Society works to raise awareness and improve the lives of those affected by the Ehlers-Danlos syndromes, hypermobility spectrum conditions, and related conditions.
Ehlers-Danlos Support UK (EDS)
Charity that supports those living with Ehlers-Danlos syndrome.
Emily’s Star
UK charity raising awareness of Trisomy 18 also known as Edwards 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.
FD-UK (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 .
Findacure
UK charity that is working to build the rare disease community to drive research and develop treatments.
Floating Harbor Syndrome Global Support (FHSuk)
Support group for those patients and families affected by Floating Harbor Syndrome.
FND Hope UK
Charity for people with Functional Neurological Condition.
FOP Action
Support group that provide advice and support to all those affected by fibrodysplasia ossificans progressiva (FOP).
FOP Friends
Support group that was established to raise money and awareness for the rare genetic condition 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-MD 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 conditions 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 conditions, to provide information to all, and to help further research into the condition.
GIST Support UK
A network of GIST patients and carers that help and support people come to terms with living with GIST.
Gorlin Syndrome Group
Charity that supports those affected by Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome).
Gretton Homes, Consensus Support Servicess
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 conditions.
HAE UK
Charity that supports and improves the lives of individuals affected by hereditary angioedema (HAE).
Harrison’s Fund
UK charity raising funds for research into Duchenne Muscular Dystrophy.
HBA Support
Hereditary Brain Aneurysm Support (HBA Support) is the UK’s first patient-centred organisation to provide information and support for people affected by hereditary brain aneurysms and their families.
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 condition Familial Hypercholesterolaemia (FH).
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 conditions 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 conditions.
HISTIO UK (Histiocytosis Research Trust)
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 condition also known as Hypomelanosis of It, Incontinentia Pigmenti Achromians, Ito’s syndrome and or HMI (Pigmentary Mosaicism).
HPS Network UK
A ‘not for profit’ support and advocacy group for people and families dealing with Hermansky-Pudlak Syndrome (HPS) and those seeking testing for the syndrome.
Huntington’s Disease Association
Charity supporting families and individuals affected by Huntington’s disease (HD).
Huntington’s Disease Association of Northern Ireland
Charity that supports and provides information for families in Northern Ireland who live with Huntington’s disease.
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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Immunodeficiency UK
Charity supporting families affected by immunodeficiencies.
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 conditions 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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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.
KIF1A.org
A global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Kleefstra Syndrome.Org
Community rhat exists so offer support, education and awareness of Kleefstra Syndrome.
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 UK (LDUK)
Offers support to those with lipodystrophy.
Little People UK
Charity that supports people with restricted growth conditions.
Loeys-Dietz Syndrome Foundation
Charity that funds research and provides support and information for individuals and families living with Loeys-Dietz syndrome.
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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Macular Scoiety
A society that supports and provides information for individuals and their families affected by a macular condition.
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 Foundation (The)
Charity that funds research and provides support and information for individuals and families living with Marfan syndrome, Loeys-Dietz syndrome, Vascular Ehlers-Danlos syndrome (VEDS), Stickler syndrome, and other genetic aortic and vascular conditions.
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.
Mast Cell Action
Offer support to the mast cell disease community, their families, doctors and researcher. They also raise awareness of Mast Cell Activation Syndrome.
Matthew’s Friends
Matthews Friends supports patients, families and professionals by providing information, training, research and grants to develop ketogenic services and support systems for drug resistant epilepsy as well as other neurological and metabolic conditions.
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.
Microphthalmia, Anophthalmia and Coloboma Support
UK national charity supporting children born without eyes or underdeveloped eyes (anophthalmia, coloboma and microphthalmia).
MLD Support Association UK
UK charity providing support to families affected by Metachromatic Leukodystrophy.
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.
Motor Neurone Disease Association
Organisation that improves care and support for people with Motor Neurone Disease (MND), their families and carers.
Mowat-Wilson Syndrome Foundation
Foundation who’s mission is to enhance the lives of people affected by Mowat-Wilson Syndrome by providing family support, raising awareness and supporting research and education.
MPNG/DDD Support Group
A charity whose purpose is to provide information and support to MPGN, DDD and C3G patients and their families.
MPS Society
UK charity that supports individuals and their families affected by mucopolysaccharide (MPS), Fabry and related diseases.
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 conditions, 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).
Narcolepsy UK
Charity supporting people with narcolepsy, their families and careers.
National Society for Phenylketonuria (The) – NSPKU
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.
Nerve Tumours UK
Charity aiming to improve the lives and support those affected by neurofibromatosis.
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.
NCBRS (Nicolaides-Baraitser Worldwide Foundation)
Support group that supports people and families with Nicolaides-Baraitser Syndrome.
Niemann-Pick UK
Charity that offers support and information for families affected by Niemann-Pick diseases.
NMO Spectrum UK
Charity that raises funds and awareness for people affected by NMO (Neuromyelitis Optica).
NNAA10 Families Together
A worldwide Patient Support Organisation for Families effected by Mutations to the NAA10 gene. This includes Ogden syndrome and Lenz Microphthalmia syndrome.
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.
Nystagmus Network
UK charity providing support and information, raises awareness and funds research in genetic eye condition Nystagmus.
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OcuMel UK
Charity that provides support for anyone affected by eye cancer.
Ollier Maffucci
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 conditions.
Osteopetrosis Support Trust
Charity that raises awareness and provides support to families of children with Malignant Infantile Osteopetrosis.
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Pachyonychia Congenita Project
Pachyonychia Congenita Project (PC Project) is the international charity that supports families with the rare genetic skin condition pachyonychia congenita. PC Project connects patients, researchers and physicians throughout the world in a united effort to help those with PC.
PANS PANDAS UK
A charity established by a group of parents with children who are affected by PANS or PANDAS to raise awareness and understanding of these conditions amongst the general public and medical professionals.
Parathyroid UK
Charity that provides practical and emotional support to people living with parathyroid conditions.
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).
PNH Support Group
Support group of people living with Paroxysmal Nocturnal Haemoglobinuria (PNH) and their family members.
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 Sclerosing Cholangitis Support (PCS 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 conditions.
PURA Syndrome
International support group for those affected by PURA syndrome.
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Ragdolls UK
Charity that supports girl’s with Turner’s Syndrome.
RareConnect
RareConnect also provides online communities for many genetic condition. 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.
Retina UK
Charity that aims to fund research and support those affected by retinitis pigmentosa (and related conditions).
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 condition.
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.
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.
SADS UK Sudden Adult Death Trust
Cardiac charity that aims to save lives by providing information, funding research and medical equipment to prevent premature sudden cardiac death.
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 conditions 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 conditions.
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.
Stargardt’s Connected
Charity raising awareness, giving support and seeking a cure for Stargardts’ disease, an inherited progressive disease that affects the retina.
Stickler Syndrome UK
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 conditions.
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.
Timothy Syndrome Alliance (TSA)
Supports Timothy Syndrome and all other deleterious CACNA1C gene change families through education, shared experience and research.
Treacher Collins Family Support Group
Charity and support group that supports those affected by Treacher Collins syndrome and their families.
Treat SMA
UK campaign for access to treatments for spinal muscular atrophy.
TRPS Support Group UK
UK support group that provides support to those affected by trichorhinophalangeal syndrome (TRP) and their families.
Tuberous Sclerosis Association (TSA)
Charity providing support to families affected by tuberous sclerosis (TS) across the UK.
Turner Syndrome Support Society (TSSS)
Charity that aims to provide support and information to all girls and women affected by Turner syndrome.
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UKPIPS
Supporting and informing people about Primary Immune Deficiency.
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.
Ultra Rare Disease Disorders And Disabilities Foundation
Charity that supports, provides advice and helps people affected by rare diseases and disabilities.
Unique – Rare Chromosome Disorder
A charity that aims to inform, support and alleviate the isolation of anyone affected by rare chromosome conditions, rare autosomal dominant single gene conditions, associated intellectual disability and developmental delay; and to raise public awareness of these conditions.
Uniquely Me Foundation
Charity set up to support people and families living with TAR Syndrome.
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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Vasculitis UK
Charity that supports those suffering from vasculitis diseases ad their families by providing information and advice.
VEDS Movement (The)
Charity that funds research and provides support and information for individuals and families living with by Vascular Ehlers-Danlos syndrome (VEDS).
VHL UK/Ireland
Charity that raises funds for VHL, HLRCC and BHD research and supports those affected.
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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.
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Zellweger UK
UK charity providing grants and/or equipment, support and practical advice to families affected by ZSD.
