The pair had helped identify a still-unnamed disease, which they had tied to a particular gene and to a particular somatic mutation—a genetic change that had not been passed down from a parent and was ...
The surprising paradigm shift could lead to much more protective sunscreens and effective skin treatments.
Epidermolysis Bullosa (EB), or butterfly disease, affects 1 in 50,000 people, causing fragile skin that blisters easily, often likened to the delicacy of butterfly wings.
Porokeratosis is a skin disease that leads to the development ... In The American Journal of Human Genetics, they report that they identified a new gene, called FDFT1, that when damaged will ...
Ruby-Jo Sneed, 18, was diagnosed with a rare genetic chromosome deletion after undergoing genetic testing aged 12 due to her ...
There is evidence that Crohn’s disease is genetic, though environmental factors may also be involved. Crohn’s disease is a type of inflammatory bowel disease (IBD) that causes inflammation in ...
This case study explores a rare overlap of hidradenitis suppurativa and porokeratosis, as well as highlights the unique ...
Abnormal fibrils at the junction of the epidermis and dermis are found in certain types of the genetic skin disease, epidermolysis bullosa, a blistering skin condition that occurs with even ...
Palvella Therapeutics, Inc., a clinical-stage biopharmaceutical company, focuses on developing and commercializing novel therapies to treat patients serious and rare genetic skin diseases.
They report that eighty to ninety percent of cases were detectable, as stated in the American Journal of Human Genetics. Rare diseases are typically due to genetic causes. These causes are more ...