UK sources of information and / or support
Patient UK has many groups listed in the genetic / syndromes category of the patient support section. Other useful sites include:
A major UK charity providing support and advice to parents whatever the medical condition of their child. Their directory of diseases also provides information on a large number of conditions, many of which are rare.
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.
A section of the 'Contact a Family' website giving lots of information on rare conditions. the website
A website primarily aimed at those working in primary care, however, they offer a patient information section which may be of interest to all.
Genetic Alliance UK is the national charity of over 130 patient organisations, supporting all those affected by genetic conditions.
This is the UK Government's advisory body on new developments in human genetics and how they impact on individual lives. They give the Government advice on human genetics with a particular focus on the social, ethical and legal issues.
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.
Support and information for parents of children with birth defects, which are sometimes caused by genetic problems.
Aims to provide equal access to high quality molecular genetic testing services for patients from across the whole of the UK. It is a network of laboratories that offer tests for inherited single gene germ line disorders.
Comprises an international network of health care professionals, researchers andconsumers preparing, maintaining, and disseminating systematic reviewsof randomised control trials in the treatment of cystic fibrosis andother genetic disorders.
Information from the BBC.
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.
- PatientPlus - hundreds of medical reference articles provided by Patient UK.
- Evidence Based Medicine - such as from Clinical Evidence, The Cochrane Library, etc.
- Database of UK Clinical Guidelines - from NICE, SIGN, Clinical Knowledge Summareis, etc.
- Medline - abstracts available from thousands of journals.
- Sites listing free online medical textbooks and journals.
- Sites listing free medical images - pictures, atlases, anatomy, skin diseases, etc.