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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.
The authors and editors of this article are employed to create accurate and up to date content reflecting reliable research evidence, guidance and best clinical practice. They are free from any commercial conflicts of interest. Find out more about updating.
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Related pages in Patient UK
Health Topic information leaflets related to this topic (^ top of page)
Glycogen Storage DisordersSupport Groups related to this topic (^ top of page)
Climb - Children Living with Inherited Metabolic
Contact a Family
Genetic Interest Group
Human Genetics Commission
James Stewardson Research and Welfare Trust for Children with TPI
Newlife Foundation for Disabled Children
Orphanet
PUMPA - Purine Metabolic Patients' Association
Unique (Rare Chromosome Disorder Support Group)PatientPlus articles related to this topic (^ top of page)
Congenital Rubella Syndrome
Inborn Errors of Metabolism - an IntroductionUK guidelines related to this topic (^ top of page)
Guidelines on Genetic DisordersLinks to other selected websites related to this topic (^ top of page)
Birth Defects
Enzyme Deficiencies
Metabolic Disease
Rare DiseasesPatient UK Newspaper (^ top of page)
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Genetic Disorders news
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Congenital And Inherited Disorders newsRelated Products (^ top of page)
Medical equipment

Books

Other - Useful resources (^ top of page)
Pictures, diagrams, photos, images, etc.Evidence based medicine
Online textbooks and journals
UK Guidelines
Online Videos
Medline
Other good health sites
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Here you can follow a link to view existing patient experiences on this subject, or to add your own
This will offer you the usual PDF options i.e. document navigation, search, zoom and formatted print
Note: this is the best way to print the document
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