"With our prenatal human skin atlas, we’ve provided the first ... encouraging efficacy results with its gene therapy for rare genetic disorder Rett syndrome, but investors' concerns about ...
Over the past decades, large numbers of genes and genomic regions involved in human complex diseases have been revealed through linkage analysis, candidate gene study, and genome-wide linkage study.
Researchers have identified a potential treatment for Sandhoff and Tay-Sachs diseases -- two rare, often fatal lysosomal ... published in the journal Human Molecular Genetics.
16, 2024 — Prenatal human skin atlas and organoid will accelerate research into congenital diseases and lead to clinical applications for regenerative ... How Your Skin Tone Could Affect Your ...
That was a modest wager on a drug that stood a chance of becoming the first FDA-approved topical therapy for congenital ichthyosis, a collection of around 20 rare skin disorders that cause dry ...
in mouse and human cell models, rectifies the underlying molecular cause of a rare genetic developmental disorder linked with motor and intellectual disabilities and some types of autism spectrum ...
A 41-year-old man presents with severe frontal headache that began suddenly and awakened him from sleep. The headache is associated with nausea, vomiting, and subjective fevers. What's the diagnosis?
This ultra-rare genetic disorder causes a phototoxic heme precursor to build up in the red blood cells, resulting in severe burn injuries on the skin after as little as ten minutes of exposure to ...
Sun exposure increases melanin production to protect the skin against harmful UV (ultraviolet) rays. In addition, hormone changes can affect melanin production. This is a rare, inherited disorder. It ...