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Don’t fight Chromosome 8p duplication alone.
Find your community on the free RareGuru App.Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
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 on 05-01-20
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 on 05-01-20
Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about duplications of 8p.
Last updated on 04-27-20
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