Genetic Testing: Towards a better understanding of rare diseases

Modern genetic testing methods improve the diagnosis of rare diseases. This is confirmed by a study in which over 7,000 rare diseases patients were examined and the entire genome was sequenced.

Full genome sequencing applied also to patients who had no reliable diagnosis

Modern genetic testing methods improve the diagnosis of rare diseases. This is confirmed by an article published in the journal Nature on 2 July 2020. The study was carried out under the leadership of a research team from the University of Cambridge (UK). In this study, more than 7,000 patients with rare diseases were examined and the entire genome was sequenced.

In this international collaboration, researchers in the group of Professor Andreas Greinacher, at the Institute for Immunology and Transfusion Medicine at the University of Greifswald’s Medical Faculty in Germany took part. This group is composed of experts in the diagnosis of thrombocyte diseases. Greifswald is also a reference center for patients from all over Germany and neighboring European countries with rare congenital and acquired changes in thrombocytes.

Some patients, for whom no reliable diagnosis could be made in Greifswald, were included in the British part of the research. The physicians provided their colleagues in Great Britain with blood samples from 45 affected patients. In Cambridge, the genome of these people was sequenced.

Considerable progress through international and interdisciplinary cooperation

A previously unknown genetic cause of inherited platelet disorders was found in which the gene HDAC6 is altered. Because the gene is located on the X chromosome, men are mainly affected. The special feature is that this genetic change is located in a region of the genome that also controls the reading of other genes. As a result, a mutation in one gene impairs the function of many other genes. This mechanism is one of the first descriptions of this genetic control in humans. The study is an impressive example of how pooling resources and international cooperation can lead to significant progress in helping patients with rare diseases.

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