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 leaflets 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 To 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 10 years later documents the longitudinal histories of more than 5300 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 karyotypes among our membership, please go to the karyotype database on this website.
- To request an anonymised phenotypic description from our offline database associated with any specific karyotype, please contact us quoting the relevant karyotype, chromosome disorder and/or specific code number from our online karyotype 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 leaflets
For many rare chromosome disorders, Unique produces two leaflets:
- A brief introduction in trifold format, suitable for families with a new or recent diagnosis and for couples with an unborn baby
- A more detailed and descriptive leaflet that includes many references to families' individual experiences of having a child with a particular disorder. The longer leaflets 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.
To find out more about obtaining these leaflets, please go to the Rare Chromosome Disorder Leaflets 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 leaflets on individual conditions. To find out about the exacting process we adopted to produce these leaflets, please view our leaflet protocol description.
3. General information booklets about chromosomes, chromosome disorders and their analysis
To help families and non-medical professionals, we are producing our
Little Yellow Book series.
Volume 1 is already available and is a general guide to rare chromosome disorders.
Volume 2 is in draft form and goes into more depth about Chromosome Analysis.
We aim to have this ready by the end of Summer 2006.
Volume 3 is at the planning stage but will cover pre-natal diagnosis, including Non-Invasive Pre-Natal Diagnosis (see the SAFE Network of Excellence website (www.safenoe.org) for more information about advances in NIPD).
In these booklets, we try to explain to families e.g. the difficulties in giving a prognosis for rare chromosome disorders and the reasons why analysing chromosome aberrations can be a lengthy process.
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 firstname.lastname@example.org
5. Research and Networking Collaborations
Unique has also been involved in many different research projects and EC-funded networks of excellence (see www.safenoe.org and www.eurogentest.org). 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 email@example.com to discuss further.
If you require any other information about the work of Unique, please contact Beverly Searle on Beverly@rarechromo.org or at firstname.lastname@example.org