Treatments, Therapy and Research on XP  

 

Research and Discovery are ongoing in the field of Xeroderma Pigmentosum. While we hope that a cure is close, we know that there have been significant advancements in the field. Below are links to some of the most brilliant minds and technical research that is being undertaken.

by David Busch, Ph.D., M.D.

 

These two forms of therapy are commonly referred to when there is talk about finding a cure for XP.

 

XP patients may have a defect in any one of seven genes that normally provide the cell with information on how to make a protein that is important in repairing UV induced DNA damage. Gene therapy is a proposed method of changing the cell’s content of DNA so that the cell can make the missing protein, resulting in normal DNA repair and normal sun sensitivity. Protein therapy involves introducing the missing protein directly into the cell.

 

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There are four laboratory tests that are particularly likely to be used in study of XP patients’ cells, of which the first two currently are in use in my laboratory, and the third is in the process of being introduced and is the main subject of this discussion.

 

The first method is the UV survival curve study, which measures how UV sensitive are the cultured cells i.e., how much UV is required to kill a given percentage of cells. XP patients may have anywhere from normal UV sensitivity (unusual) to up to about 10x normal UV sensitivity. Measuring their UV sensitivity this way provides one way of describing the severity of their defect.

 

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by David Busch, Ph.D., M.D.

 

This breakthrough development, published in July 2001, should enable research to be conducted without direct experimentation on XP patients. The full title of this work is:

 

“Clues to epidermal cancer proneness revealed by reconstruction of DNA repair-deficient xeroderma pigmentosum skin in vitro” by Françoise Bernerd, Daniel Asselineau, Corinne Vioux, Odile Chevallier-Lagente, Bakar Bouadjar, Alain Sarasin, and Thierry Magnaldo

 

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The first step toward gene therapy for the DNA repair disease xeroderma pigmentosum (XP) has been established by Carreau et al. They report the construction of a retroviral vector containing one of the DNA repair genes, the XP complementation group D previously known as ERCC2. Gene transfer was carried out on fibroblasts from two XP complementation group D patients referred to their laboratory. 

 

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Email: xps@xps.org

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Getting a rare disease diagnosis is terrifying for patients and their parents. You are not alone. We are here to support you and help you find the light in the darkness. The XP Society is a unique to the world program for children and families who can never be in daylight. We help provide the XP family support, information and the informative foundation on which to build a healthy and happy quality of life.

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