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Single Gene Disorder Guides

New genetic sequencing technologies are revealing changes within peopleís genes that cause developmental disorders. Starting with help from clinicians from the Deciphering Developmental Disorders (DDD) study, Unique is developing a new series of family-friendly guides to these genes. DDD is a research partnership between the Wellcome Trust Sanger Institute in Cambridge, UK and the 23 NHS Regional Genetic services (www.ddduk.org). Each guide focuses on a single gene, and the syndromes or disorders that changes within that gene can cause.

The text for each guide is written by a doctor, almost always a geneticist, to answer familiesí key questions: What are the consequences of the gene change, also called a variant? How can it affect development? What are the medical effects? Why did it happen? Will it happen again if I have more children?

To make sure that the guides are family-friendly, we write them in clear English. We include what families tell us are the real life consequences of living with the disorder. Where possible, we also put inpictures of affected children and adults. We never reveal familiesí identities.

At the moment, most single gene disorders are extremely rare, leaving families at risk of isolation, and searching alone on the internet. The Unique guides help to bring families together with information they can understand and trust.

Just click on the relevant title in the table below to download the Unique guide in which you are interested. Guides are listed under the relevant headings.

Whether you are a family or professional or a member of the general public, please help us to continue this work by being generous with your donations or fundraising. If you own a company or your employer makes donations to charities, why not consider sponsoring one of our guides? Itís a great way to help us and good advertising! Just contact craig@rarechromo.org to discuss further.

Before downloading any of our guides, we ask you to please read and adhere to our Disclaimer and Copyright Notice.


Title Web Version Print Version Quick Read Other Versions
Single Gene Disorder Guides  
ADNP related syndrome Web Version
Print Version
   
ANKRD11 and KBG syndrome     Quick Read
 
ARID1B syndrome     Quick Read
 
Bohring-Opitz Syndrome (BOS) Web Version
Print Version
   
CTNNB1 syndrome     Quick Read
 
DDX3X syndrome Web Version
Print Version
   
DYRK1A and 21q22 13 deletion syndrome Web Version
Print Version
   
FOXP2 syndrome     Quick Read
 
Floating-Harbor syndrome Web Version
Print Version
   
GATA6 Web Version
Print Version
   
GATAD2B     Quick Read
 
GRIN2A related syndrome     Quick Read
 
GRIN2B related syndrome Web Version
Print Version
   
KAT6A Syndrome Web Version
Print Version
   
KIF11 associated disorder     Quick Read
 
MED12 related disorders Web Version
Print Version
   
MPPH syndrome     Quick Read
 
PACS1 related syndrome Web Version
Print Version
   
PUF60     Quick Read
 
PURA and 5q31 Web Version
Print Version
   
SATB2 syndrome     Quick Read
 
SCN2A related conditions Web Version
Print Version
   
SETD5     Quick Read
 
SOX11 syndrome     Quick Read
 
STXBP1 Disorders     Quick Read
 
SYNGAP1 syndrome Web Version
Print Version
   
Say-Barber-Biesecker Syndrome     Quick Read
 

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