Conditions and Diseases Genetic Disorders in the Best of the Web UK Directory

Conditions and Diseases Genetic Disorders

Androgen Insensitivity Syndrome Support Group (AISSG)

Provides information and support to young people, adults and families affected by XY-female conditions; offers a comprehensive library of information about this group of conditions.

Angelman Syndrome Support Education & Research Trust (ASSERT)

Offers support to families affected by the neurological disorder and professionals working with them, and for research into its causes and treatment. Includes information resources and a directory of related links.

APS Support UK

Aim to achieve earlier diagnosis and improved treatment of antiphospholipid (APS) through education, information, support, and research.

Barth Syndrome Trust

Works to help and support affected families and medical professionals; includes information resources, links, and details of the national NHS Barth Syndrome Service based in Bristol Royal Hospital for Children.

Batten Disease Family Association

Works to support families, raise awareness and facilitate research into the group of neurodegenerative diseases commonly known as Batten Disease. Includes a library of information, and details of their services and fundraising.

Beckwith Wiedemann Support Group

Formed to allow parents with BWS children to share problems and information; includes information resources about the condition, personal stories, and a guide to current research.

CAH Support Group

Works to support families and sufferers from congenital adrenal hyperplasia; includes information about the condition and advice on living with it, forums, events, and contacts.

Canavan Research Foundation

Details of this brain deteriorating disorder with stories and images plus how to donate towards reasearch programmes.

CGD Research Trust

Funds research into Chronic Granulomatous Disorder, a rare genetic condition; also provides support to families affected. Includes information about the condition, potential treatments, and ongoing research.

CGD Society

Leading charity in the world dedicated to promoting an understanding of chronic granulomatous disorder and providing support to affected individuals and their families.

Ciliopathy Alliance

Brings together patient support groups, researchers, doctors and allied health professionals representing patients and families living with and affected by ciliopathies. ciliaalliance

Climb National Information Centre for Metabolic Diseases

Provides information and support on inherited metabolic diseases to children, adults, families, carers and professionals. Contains events diary, forum, newsletter and resources.

Cornelia de Lange Syndrome Foundation UK and Ireland

Works to ensure early and accurate diagnosis of CdLS; includes information about the syndrome, treatment protocols, resources, and contacts.

Costello Syndrome Support Group

Provides a library of resources, advice, and information for parents of children with this rare genetic condition; also provides newsletters and details of conferences.

Cri du Chat Syndrome Support Group

Works to provide support to people with Cri du Chat syndrome, and to their families and carers, and professionals. Includes a library of information resources, membership, events, and fundraising.

Cystinosis Foundation UK

Works to support individuals and families affected by the disorder, and supports researchers in the field of cystinosis. Includes an information library, listing of specialist treatment centres, and how to help their fundraising.

Ectodermal Dysplasia Society

Provides information and support for families and individuals affected by this group of genetic disorders involving the development or function of the teeth, hair, nails and sweat glands; with contacts, resources, and how to help.

Fanconi Hope

Promotes research into Fanconi Anaemia, a genetic disorder affecting children that causes bone marrow failure and predisposes to cancer. Offers information on support for families, plus fundraising news and details of how to help.

Gauchers Association

Provides information and resources about Gaucher disease and therapies, supports research, and a support network for affected people and their families.

Genetic Alliance UK

A national umbrella charity for patient organisations supporting people affected by genetic disorders; includes a list of members, information about projects, a library of resources, news, events, and contacts.

Genetic Disorders UK

National charity working to improve the lives of individuals and families living with a genetic disorder.

Gorlin Syndrome Group

Patient group and support network offering guidance, advice and information to patients, their families and carers whose lives are touched by Gorlin Syndrome. Features FAQ, articles and forum.

The Haemochromatosis Society

Provides information resources and advice for people affected by this genetic disorder that causes the body to absorb an excessive amount of iron; also includes a section for professionals.

LMBBS - Laurence-Moon-Bardet-Biedl Society

Dedicated to supporting people with Laurence-Moon-Bardet-Biedl Syndrome, their families and carers. Includes information resources, details of their support for research, specialist clinics, news, contacts, and how to support them.

Lowe Syndrome Association

Aims to support affected families and support research into the rare genetic condition; provides background and a FAQ, details of conferences and research, news, links, and contacts.

Marfan Association UK

Formed to support those with Marfan Syndrome and their families, and to encourage research and education in the condition; with a library of information and resources, and contacts.

Marfan Trust

Raises funds to support research into the cause and prevention of Marfan syndrome; includes information about the condition, research projects, and how to get involved.

Max Appeal

Supporting families affected by DiGeorge Syndrome. Contains factsheets, event listings, newsletters and fundraising details.

Nail Patella Syndrome UK

Works to raise awareness of the condition, and to raise funds to support research; includes a resource library, and contacts.

National Society for Phenylketonuria

Formed to help and support people with PKU, their families and carers; includes background on the condition, advice on diet and management, other resources, and contacts.

Primary Ciliary Dyskinesia Family Support Group

Provides an information service about the condition, how it is diagnosed, and how to live with it on a daily basis, with a support forum, FAQ, and how to support.

Proteus Family Network UK

Support group for families and individuals affected by Proteus Syndrome, which causes skin overgrowth, atypical bone development and body tumours. Includes background information on the condition.

Pseudoxanthoma Elasticum (PXE) Support Group (PiXiE)

Aims to encourage, support and assist those with PXE and their family members; includes information about the condition, case histories, news and contacts.

The Rare Chromosome Disorder Support Group

Aims to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Smith-Magenis Syndrome Foundation UK

Features information on family support and fundraising efforts by this charity; Smith Magenis Syndrome is genetic disability due to a microdeletion or abnormality of chromosome 17.


A support organisation for parents of babies affected by trisomy 13/18, Patau's and Edwards' syndrome and related disorders; includes a comprehensive library of information and advice, with contacts and other resources.

Stickler Syndrome Support Group

Shares information on this group of genetic disorders which affect connective tissue. Includes downloadable guides.

Telangiectasia Self Help Group

Maintains a register of sufferers of Hereditary Haemorrhagic Telangiectasia, and puts affected families in touch with one another; offers factsheets and newsletters.

Treacher Collins Family Support Group

Providing information about this syndrome, which casuses facial malformations and severe hearing loss. With photographs, newsletters and links.

Tuberous Sclerosis Association

Promotes awareness and research into the Tuberous Sclerosis Complex; provides information and resources for affected individuals and families, news, and contacts.

Turner Syndrome Support Society

Offers support, advice, and information to women and girls with Turner Syndrome and their families. Includes news and contacts.

Unique (The Rare Chromosome Disorder Support Group)

Offers information and support to families and individuals affected by any rare chromosome disorder and to professionals who work with them; includes a library of resources, membership details, contacts, and fundraising.

Wolf Hirschhorn Syndrome Trust

Offers advice, support and friendship to anyone with an interest in Wolf Hirschhorn Syndrome; includes information online and to download about the condition, newsletters, and contacts.

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