Genetic Disorders and Syndromes

UK sources of information and / or support

Patient UK has an extensive directory of self help and support groups, with many groups listed in the genetic section. Other useful sites include:

 Contact a Family

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.

 Rare disorders

A section of the 'Contact a Family' website giving lots of information on rare conditions. the website

 National electronic Library - Clinical Genetics Specialist Library

Aimed at health care professionals, but may be of interest to the general public.

 Northern Primary Care Genetics 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 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.

 Human genetics commission

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 - 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 (e.g. 47,XXX 47,XYY 48,XXXX 49,XXXXY etc.) etc.

 BBC Health

Information from the BBC.

 Newlife

Support and information for parents of children with birth defects, which are sometimes caused by genetic problems.

 UK Genetic Testing Network

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.

 Cochrane Cystic Fibrosis & Genetic Disorders Review Group

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.

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.

• Non-UK disease / illness sites
• Non-UK self-help / support group sites

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.