Short Telomere Syndromes - Resources
Below you will find more information on short telomere syndromes. Some of these materials are of general interest, while the section for clinicians includes testing and other information relevant to these professionals.
How genetic mistakes cause short telomere diseases [PDF]
Here you can find a simple explanation of telomeres, and why short telomeres cause problems (1.59 MB pdf file).
Dyskeratosis Congenita Outreach Pacific (DCOP) [website]
This links to the website of a group of patients and family members in Australian and New Zealand who are affected by Dyskeratosis Congenita and related diseases caused by short telomeres, and scientists and clinicians who focus on these conditions.
ACRF Telomere Analysis Centre (ATAC) [page]
This webpage takes you behind the scenes at CMRI's specialized facility for telomere research.
Telomere length testing by FLOW FISH at CHW [PDF]
Information for clinicians on how to get telomere length measurements done at Children's Hospital Westmead.
Inherited Bone Marrow Failure Syndrome (IBMFS) Register information [PDF]
A database (registry) of information about patients is being set up to improve the understanding of short telomere diseases, and other hereditary causes of bone marrow failure, and to improve their medical care.
Review article on the clinical features of the short telomere syndromes
Full article available on request from Dr Pasquale Barbaro (firstname.lastname@example.org
Dyskeratosis Congenita and Telomere Biology Disorders: Diagnosis and Management Guidelines [link]
These clinical care guidelines, published by Dyskeratosis Congenita Outreach Inc., provide background information and general clinical guidance (28.1 MB pdf).