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New Information Guide to 2q13 Microduplications - Families Wanted!
We would very much like to hear from families with a "pure" 2q13 microduplication in order to gather information for a new guide we are preparing. This guide will only be about people with small duplications confined to 2q13 alone rather than those with larger duplications of 2q, with changes in different regions of chromosome 2 or with 2q13 microduplications accompanied by different chromosome disorders. Our registered families affected by 2q13 microduplications will be contacted directly but if you are not yet a member of Unique and have a 2q13 microduplication in your family and would like to know more about this new guide, please send an email to anna@rarechromo.org Of course, anyone with any rare chromosome disorder is very welcome to join Unique and should email info@rarechromo.org for free membership.
Children with an extra sex chromosome
Professor Dorothy Bishop at Oxford University is in the final stages of a research study investigating the nature and consequences of an additional X or Y chromosome. She needs to recruit additional cases with triple X syndrome (trisomy X) aged between 5 and 16 years. Please click here for more information.
Unique's new single gene disorder guides page
We have now brought together on one page all our information guides to some single gene disorders. We'll be adding new guides as the weeks go by, thanks to the very generous efforts of clinician authors expert in these disorders and to the DDD project. Click here to read more
BioNews
BioNews is a weekly email news digest published by the Progress Educational Trust (PET) to provide balanced and accurate news on the latest developments in human genetics and fertility treatment as well as stem cell and embryo research. BioNews covers the science, law and policy in all these areas. Click here for more information
Recruiting for 22q11 deletion study
The Translational Psychiatric Genetics Group in Vancouver, Canada, want to understand more about the psychiatric aspects of 22q11 deletion syndrome. They hope to improve awareness and understanding of mental health in 22q so that more families worldwide can access appropriate resources, treatment and support. Please click here for more information.
Recruiting for ECHO Adult Study
ECHO study is a research group based at Cardiff University that wants to find out more about the life course and health of individuals with genetic syndromes. Please click here to find out more.
PURA Syndrome 'Making Connections' Gathering
In June this year the PURA Syndrome Foundation will hold its first official gathering in Surrey, UK, bringing families affected by the syndrome together with researchers and medical professionals. Click here for details.
Bitten by the Running Bug?
Did you watch the London Marathon and think "I could do something like that"? Unique have places in this year's Great North Run and Great Newham London Run. Both take in some iconic scenery and are a great way to raise funds for Unique and awareness about rare chromosome disorders. Interested? Please email Unique's Fundraising Officer Victoria at Victoria@rarechromo.org
Good Luck to our London Marathon Runners
Click here to read about the brave ladies and gents who will be running the London Marathon this Sunday, April 24th, to raise much needed funds and awareness for Unique. We wish them all the very best!
Special Event for Unique & Idic 15
Click here for details of a special event in Roehampton, London, on April 24th. Fun runs, bouncy castle, face painting, live music, ice creams, oriental food and more!