Artificial Intelligence Aids in Diagnosing Rare Disease

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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.  

The scientists used photographs of the faces of 91 patients and found cell surface changes characteristic for GPI anchor deficiencies in a number of the patients. Genetic analysis also revealed gene mutations that are typical for this rare group of diseases.

“The artificial modeling of gene-typical faces that we achieved with these datasets clearly shows that the computer-aided evaluation of patients’ portraits can facilitate and improve the diagnosis of GPI anchor deficiencies, which is significant progress,” Alexej Knaus, Ph.D., lead author from the Institute for Genome Statistics and Bioinformatics of the University Hospital Bonn, said in a statement.   

The clinical impact of a mutation in a particular gene can range from mild to profound, which also applies to distinctive facial features.

In Mabry syndrome for example, a narrow, sometimes tent-shaped upper lip, broad bridge of the nose and wide-set eyes with long palpebral fissures are among the classic features, but these may be more or less pronounced, complicating the diagnosis of the disease. Elevated alkaline phosphatase (AP) levels in the blood— which are also considered characteristic for the syndrome—cannot be detected in every patient.

“The result is that many patients and their relatives often suffer many years of uncertainty until the correct diagnosis is made,” Krawitz said.

The researchers now hope to use combined data from the laboratory and the computer to gain a better understanding of the molecular processes involved in the disease.

For example, it was shown that increased blood alkaline phosphatase levels and conspicuous image analysis results provide a reliable indication of a new mutation in a GPI anchor deficiency.

The team also plans to refine the combination of cell and genetic material analysis and computer-aided image analysis.


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