Research brings hope for early treatment of brain degeneration in children with xerodermapigmentosum
. The researchers were then able to identify the stem cells that would become brain cells .
The researchers were fortunate, they say, in having access to a large group of patients from the national XP clinic at Guy's and St Thomas, where all British-resident patients with the condition are cared for by the same clinical team."Having such a clinic means that patients withcan be followed up long-term in one place, and this facilitates investigations such as ours," Dr. Momen says.
"It is often said that patients with XP die in their 20s and 30s, either due to skin cancers or neurodegeneration, but this is not always the case. It is important to recognize that there are some patients with XP who do not develop neurodegeneration and mainly develop skin cancers, against which they can take protective measures at an early stage."
Further validation studies of the early detection algorithm will be necessary before it can be used as a predictive tool in clinical practice. Clinical trials will also be needed to see which, if any, medications may be useful in halting or delaying neurodegeneration in patients identified as being at risk.
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