Telomere biology disorder

Common Name(s)

Telomere biology disorder

Telomere biology disorders are a complex group of conditions in which the telomeres (the ends of chromosomes) are abnormally short. Dyskeratosis congenita (please also visit: dyskeratosis congenita.) is one of many telomere biology disorders. Telomeres are a very important part of the chromosomes (long strands of DNA), because they protect the chromosomes from attaching to each other or becoming inactive. Chromosomes duplicate in order to produce new cells through a process known as mitosis. This process occurs almost constantly and is how we grow and heal both from minor injuries and cuts on our skin, as well as internally heal damage done to our organs. Chromosomes shorten each time they duplicate, and the telomeres work as buffers so none of the DNA in the chromosomes is lost throughout this process. However, when the telomeres become too short, the chromosomes can no longer duplicate and new cells can no longer be produced by that cell. Individuals with telomere biology disorders may present with many symptoms, but the three most common are abnormally pigmented skin, brittle or fragile finger nails, and white plague or patches that form in the mouth and cannot be rubbed off (oral leukoplakia). These indivviduals also have an increased risk for many health conditions such as cancer, bone marrow failure, and pulmonary fibrosis. Diagnosis has become easier as more knowledge of these conditions is becoming more readily available, but the process is still not perfect. Treatment is not currently available, but the symptoms may be manageable. Talk to your doctor for the most up to date treatment options for you or your child. Support groups are also a good source of information and support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Telomere biology disorder" for support, advocacy or research.

Dyskeratosis Congenita Outreach, Inc.

Our mission is to provide information and support services to families affected by Dyskeratosis Congenita, a Telomere Biology Disorder worldwide, to encourage the medical community's research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

Last Updated: 1 Nov 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Telomere biology disorder" for support, advocacy or research.

Dyskeratosis Congenita Outreach, Inc.

Our mission is to provide information and support services to families affected by Dyskeratosis Congenita, a Telomere Biology Disorder worldwide, to encourage the medical community's research in finding causes and effective treatments, and to facilitate improved diagnosis by educating medical providers.

http://www.dcoutreach.com

Last Updated: 1 Nov 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Telomere biology disorder" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Telomere biology disorder" returned 1 free, full-text review articles on human participants. First 3 results:

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
 

Author(s): Galina Glousker, Fabien Touzot, Patrick Revy, Yehuda Tzfati, Sharon A Savage

Journal: Br. J. Haematol.. 2015 Aug;170(4):457-71.

 

Hoyeraal-Hreidarsson (HH) syndrome is a multisystem genetic disorder characterized by very short telomeres and considered a clinically severe variant of dyskeratosis congenita. The main cause of mortality, usually in early childhood, is bone marrow failure. Mutations in several telomere ...

Last Updated: 5 Aug 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.