Peter Krawitz News Today

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 M...