National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chromosome 8p duplication



Can a chromosome 8p duplication be corrected? Is there any hope in experimental treatments such as gene therapy or stem cell manipulation?


Can a chromosome 8p duplication be corrected? 

With our current technology, it is not yet possible to "correct" a chromosome duplication or deletion. This is because when a person is born with a chromosome abnormality, that deletion or duplication is in every one (or a large portion) of the billions of cells that make up his/her body. Scientists have not yet developed a method for adding back the deleted portion of a chromosome or taking away a duplicated segment of a chromosome. However, symptoms caused by a chromosome disorder can be treated as they arise. Coordination with healthcare professionals, teachers, and other local services can help a child with a chromosome disorder reach his/her full potential.
Last updated: 5/26/2017

Might experimental treatments such as gene therapy or stem cell manipulation help correct a chromosome duplication or deletion?

Currently, there are no on-going gene therapy or stem cell therapy studies for patients with chromosome abnormalities such as a deletion or duplication. In the United States, gene therapy is currently available only in a research setting. Chromosome Disorder Outreach is a nonprofit organization that provides information on the latest research for chromosome disorders. 

You can find more information about gene therapy from Genetics Home Reference, the U.S National Library of Medicine's Web site for consumer information about genetic conditions and their related genes
https://ghr.nlm.nih.gov/primer/therapy/genetherapy

The University of Utah's Genetic Science Learning Center provides comprehensive resources on this topic including discussions on the challenges in gene therapy and new strategies to gene therapy.

http://learn.genetics.utah.edu/content/genetherapy/

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Although no studies involving gene and stem cell therapy for chromosomal disorders are listed at this time, you can check the website for updates. 

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling 1-800-411-1222 to speak with a specialist, who can help you determine eligibility for any clinical trials. If you are located outside the United States, and would like to be contacted via telephone, you will need to contact PRPL and provide your telephone number in full, including area code and international dialing prefix.

Patient Recruitment and Public Liaison Office (PRPL)
NIH Clinical Center 
Bethesda, Maryland 20892-2655
Toll-free: 1-800-411-1222
Fax: 301-480-9793
E-mail: prpl@mail.cc.nih.gov
Web site:  http://clinicalcenter.nih.gov

Last updated: 5/26/2017

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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