Diseases affecting a small number of individuals as opposed to the general population are called rare diseases. In nature, rare diseases seldom occur thus making the method of procuring the correct diagnosis immensely difficult for medical specialists and patients. While there is a small number of rare disease cases, the impact can be quite confounding. There are more than 6,000 known rare diseases and at least one of them affects an estimate of 3.5 percent of the global population at any time. People who have been suffering from rare diseases could benefit from an accurate and timely diagnosis.

An international team of scientists are using data on genetic material, cell surface texture and typical facial features derived by artificial intelligence methods to simulate disease models for deficiencies in the molecule glycosylphosphatidylinositol (GPI) anchor, which is known to cause various diseases. One of the diseases is Mabry syndrome, a rare disease that is triggered by a change in a single gene, causing mental retardation. "This disease belongs to a group that we describe as GPI anchor deficiencies and which includes more than 30 genes," physician and physicist Dr. Peter Krawitz from the Institute for Genome Statistics and Bioinformatics of the University Hospital Bonn, said in a statement. GPI anchors attach specific proteins to the cell membrane and if they do not properly function due to a gene mutation, signal transmission and further steps in the cell-cell communication are impaired. The researchers investigated how a diagnosis of GPI anchor deficiencies can be improved with modern and fast DNA sequencing methods, cell surface analysis and computer aided image recognition.

An international team of scientists are using data on genetic material, cell surface texture and typical facial features derived by artificial intelligence methods to simulate disease models for deficiencies in the molecule glycosylphosphatidylinositol (GPI) anchor, which is known to cause various diseases.