Rare Diseases

This page has been archived. It has not been updated since 18/11/2011. External links and references may no longer work.

UK sources of information and / or support

Patient UK has an extensive directory of self help and support groups, many of which provide support and information about rare conditions. Other useful sites include:

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Rare disorders

Information from Contact a Family which provides support and advice to parents whatever the medical condition of their child.

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Aims include to further medical research in metabolic diseases in children and the pre-natal diagnosis thereof, to make grants and allowances for the purposes of medical treatment and care of children suffering from metabolic diseases to parents, hospitals, homes or institutions, and more. See their inherited metabolic disorders page for links to leaflets on over 700 disorders.

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Genetic Interest Group (GIG)

A national alliance of organisations with a membership of over 120 charities which support children, families and individuals affected by genetic disorders / genetic diseases. Its primary goal is to promote awareness and understanding of genetic disorders so that high quality services for people affected by genetic conditions are developed and made available to all who need them.

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Rare Cancer Alliance

The primary purpose of the organization is to disseminate information and provide support to rare cancer patients. Most members are rare cancer patients themselves, who have had to go through the process of wading through the information (or lack of information) on the internet for their rare cancer.

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Unique - Rare Chromosome Disorder Support Group

Unique is a source of information, mutual support and self-help to families of children with any rare chromosome disorders including deletions, trisomy, balanced translocations, unbalanced translocations, rings, inversions, duplications, tetrasomy, monosomy, triploidy, isodicentric, marker, mosaic, sex chromosome aneuploidy (eg 47, XXX 47, XYY 48, XXXX 49, XXXXY etc) etc.

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Orphanet is a database of information on rare diseases and orphan drugs. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases. Orphanet includes a professional encyclopaedia, which is expert-authored and peer-reviewed, a patient encyclopaedia and a directory of expert services. This directory includes information on relevant clinics, clinical laboratories, research activities and patient organisations.

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British Paediatric Surveillance Unit

Aimed at health care professionals, but may be of interest to the general public. The BPSU coordinates the surveillance of uncommon childhood disorders and writes reports on them.

Further sources / more detailed information

Some non-UK sites

The following list popular non-UK health information sites with content aimed at the general public. They are mainly from the US. They have not been checked to see if information about the above topic is included but these large sites are comprehensive.

More detailed medical information

The following list online sources of more detailed medical information, mainly from the UK. These sites are mainly aimed at health professionals, but are of interest to all. They have not been checked to see if information about the above topic is included, but information about most medical topics can usually be found.

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