This App Can Diagnose Rare Diseases From a Child's Face
Doctors often struggle to identify rare conditions they may only see once in a lifetime. Face2Gene helps specialists find others with the same condition.
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Doctors often struggle to identify rare conditions they may only see once in a lifetime. Face2Gene helps specialists find others with the same condition.
Rare genetic diseases can sometimes be recognized through facial features, such as characteristically shaped brows, nose or cheeks.
/PRNewswire/ -- FDNA, the leader for the early detection of rare genetic diseases, announced today that its breakthrough study findings were published in the...
E-Mail IMAGE: In the transgenic mice (Pigv341E; right) there are fewer vesicles (green) in which neurotransmitters are stored than in the control animals (left). This could be responsible for the synaptic defect. view more Credit: © Miguel Rodriguez de los Santos Impaired intelligence, movement disorders and developmental delays are typical for a group of rare diseases that belong to GPI anchor deficiencies. Researchers from the University of Bonn and the Max Planck Institute for Molecular Genetics used genetic engineering methods to create a mouse that mimics these patients very...