Cockayne syndrome is a severe autosomal recessive disorder caused by defective DNA repair mechanisms. People with the disease have much reduced life expectancy and suffer from facial deformities; growth failure; neurological, ...
Apr 10, 2024
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Genetic researchers at Nagoya University, Japan, have delved into the genetic underpinning of a rare skin condition affecting children that is unusually common in Japan.
Xeroderma pigmentosum (XP) is a rare and devastating genetic disorder characterized by an inability to repair skin damage caused by ultraviolet (UV) light. As a result, patients with XP develop skin cancers, usually in childhood. ...
Jun 11, 2023
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Through a global gene expression analysis (transcriptomic), the researchers were able to find and confirm a genetic signature common to genodermatoses in patients' cells. The profile targets cellular activation and alteration ...
Mar 5, 2019
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Scientists have wondered whether somatic (non-inherited) mutations play a role in aging and brain degeneration, but until recently there was no good technology to test this idea. A study published online today in Science, ...
Dec 7, 2017
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A patient with a rare condition that led to him developing skin cancer is helping medical experts discover why some other patients are not protecting themselves from the sun.
Oct 16, 2015
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This is a village where the people melt away. Tucked into the sunbaked rolling hills of Brazil's midwest, Araras is home to what is thought to be the largest single group of people suffering from a rare inherited skin disease ...
May 6, 2014
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