Welcome to Unique
Thank you for visiting our website and showing an interest in our work. We hope that you find our website and information guides and booklets informative and that they assist you in counselling the families with whom you work. Please tell your families about us so that they are aware of the help and support we can offer them.
Unique always welcomes the involvement and advice of medical, health and other involved professionals. If you are a paediatrician, therapist, geneticist or other professional working with people with rare chromosome disorders and wish to know more about how you can be involved in the work of Unique, please take a look at our How You Can Help Us section.
How We Can Help You
1. Information from our offline database of rare chromosome disorders
Our comprehensive offline database was created in 1996 and 17 years later documents the longitudinal histories of more than 14,000 affected members of all ages, the vast majority being cases never reported in the medical literature. We aim to update the database at least annually. In order to protect our members' privacy we do not allow professionals direct access to this offline database BUT we can provide anonymised phenotypic descriptions of any case held on this offline database.
- To view all the specific chromosome disorders with genotypes among our membership, please go to the genotype database on this website.
- To request an anonymised phenotypic description from our offline database associated with any specific genotype, please contact us quoting the relevant genotype, chromosome disorder and/or specific code number from our online genotype database. Please also tell us your specific interest in having this information so that we might provide relevant information.
2. Our family-friendly, medically-verified information guides.
For many rare chromosome disorders, Unique produces detailed and descriptive guides that include many references to families' individual experiences of having a child with a particular disorder. The guides are suitable for families who wish to know in greater detail how other people have been affected by a particular disorder and understand the often broad range of outcomes that are possible for their own child. Many of our guides are now translated into other languages and we welcome offers from professionals to translate guides from English into their own first language.
To find out more about obtaining these guides, please go to the Rare Chromosome Disorder Guides page in our Information section.
Unique is very grateful to the many geneticists, paediatricians and developmental specialists who have already helped us by reading through and verifying the texts of the group's guides on individual conditions. To find out about the exacting process we adopted to produce these guides, please view our guide protocol description.
3. General information booklets about chromosomes, chromosome disorders and their analysis
To help families and non-medical professionals, our Little Yellow Book is a general guide to rare chromosome disorders and their analysis.
4. Presentations to groups of qualified professionals and students
Over the years we have been invited to give illustrated presentations to many different groups of professionals and medical students. In our presentations we talk about rare chromosome disorders and the extraordinary challenges they present to our members, as well as the ways in which we can help affected individuals and families and involved professionals. If you would like us to speak to your group, please contact Beverly Searle, Unique CEO, at Beverly@rarechromo.org or at email@example.com
5. Research and Networking Collaborations
Unique has also been involved in many different research projects. If you are interested in working with our families for your own research project, we would pass your application in the first instance to our own internal Research and Ethics Committee to examine. The committee might come back to you to suggest how your application can be made more family-friendly. If ethical approval is given by the committee, Unique could act as conduit, contacting relevant families to see if they would like to participate in the proposed research and passing on to families relevant information about your research. To find out more about this process, please read our Research Policy.
6. Representing our Members' Views
Unique has often been asked to represent the views of our member families on professional working parties and committees. If you think we might have a constructive role to play in your working party or committee, please contact Beverly Searle on Beverly@rarechromo.org or at firstname.lastname@example.org to discuss further.