Finding the genetic cause for patients with genodermatosis

Genodermatosis is a broad term that refers to a group of genetic disorders mainly affecting the skin, but sometimes also mucous membranes and other parts of the body. Because genodermatosis is rare and complex, they can be difficult to diagnose. Currently, a combination of anamnesis, examination of the patient, family history, genetic tests and sometimes skin biopsies is used for diagnosis. Despite this, the genetic cause has historically only been found in about half of the patients.

Long-read sequencing is a technique that enables studies of the most difficult-to-interpret parts of our genome. This method can identify genetic changes that are otherwise difficult to detect, such as variants in repetitive and complex regions, and has already shown promising results in research.

Finding the genetic cause is important for accurate diagnosis and provide information about heredity and prognosis, and to be able to take part in care efforts in precision medicine. With research and increased knowledge, opportunities for development of new treatment alternatives are opened up, says Katja Holmgren, dermatologist at Uppsala University Hospital.

This study, led by Maria Wilbe, is carried out as a collaboration between Uppsala University, Uppsala University Hospital and Clinical Genomics Uppsala (a part of the SciLifeLab infrastructure) in order to quickly integrate the research results into healthcare and improve diagnostics for patients with genodermatoses.

With long-read sequencing we can now find genetic variants in complex regions of our genomes that we previously have not been able to identify. Long-read sequencing thereby might greatly impact on diagnostics of rare diseases, says Marie-Louise Bondeson, Professor and Clinical laboratory geneticist at Uppsala University Hospital and leader of the work package focusing on inherited diseases at Clinical Genomics Uppsala.