What is going to lead to a cure for Xeroderma pigmentosum. Is it genetic engineering or what?

Answer 1

It is a hereditary disease and it is definitely not genetic engineered. The disease was discovered long before science ever knew about genes. As for a cure, I don't know. I use to work as a chemist in a large pharmaceutical company. Drug companies invest money in drugs that will treat common diseases. For examples, a drug (e.g. Zocor) for high cholesterol or for diabetes (e.g. metformin). These are chronic disease so the patients have to use them for the rest of their lives, which means more money for the drug companies - the so-called "cash cow." Xeroderma Pigmentosum (XP) is a very rare disease which gets very little attention. Drug companies don't have interests in developing a drug to treat a disease which only affects a couple of thousand people globally. There is no profit in it. Like they say "money makes the world go round." In the movie "The Others," starring Nicole Kidman, both children suffer from XP. This was the only time I have ever heard XP mentioned in the media.

To cure the disease requires genetic manipulation. XP results from the absence of an enzyme which repairs DNA strands. The Sun rays damage our skin but the enzyme repairs it, which is way patients with XP can not tolerate the sunlight.

Answer 2

Xeroderma pigmentosum, or XP, is a genetic disorder of DNA repair in which the body's normal ability to fix mutations caused by ultraviolet (UV) light is disabled. This leads to multiple basaliomas and other skin malignancies at a young age. In severe cases, it is necessary to avoid sunlight.

There are eight types of xeroderma pigmentosum:

* Dominant Type (OMIM 194400)
* Type A, I, XPA, Classical Form (OMIM 278700)
* Type B, II, XPB (OMIM 133510)
* Type C, III, XPC (OMIM 278720)
* Type D, IV, XPD (OMIM 278730)
* Type E, V, XPE (OMIM 278740)
* Type F, VI, XPF (OMIM 278760)
* Type G, VII, XPG (OMIM 278780)

Causes

Damage to DNA in epidermal cells occurs during exposure to UV light. High energy UV light causes 'nicks' in the DNA structure by disrupting base pairing. Cellular enzymes repair the damaged segment and replace the resulting gap in the DNA with the correct base pairs from the opposing strand ("nucleotide excision repair"). Enzymes called excinuclease, DNA polymerase and ligase complete this function. The most common defect in xeroderma pigmentosum is a genetic defect whereby nucleotide excision repair enzymes are defective and no longer recognize correct base pairing. Over a period of time, these mismatches build up in affected tissues. Eventually, there are enough mistakes in the DNA to cause normal tumour suppression genes to malfunction and/or activate proto oncogene function (such as p53), and cancer results.

Treatment

The most important part of managing the condition is reducing exposure to the sun.

The number of keratoses can be reduced with Isotretinoin ([1]) (though there are significant side-effects.) Existing keratoses can be treated using cryotherapy or fluorouracil. ([2]).

http://en.wikipedia.org/wiki/Xeroderma_pigmentosum