SciLifeLab’s Post

Transcript

Genodermatoses are a group of rare hereditary diseases that are difficult to diagnose, therefore we conduct research on them to improve diagnostics. Uppsala University Hospital (Akademiska sjukhuset) is the only hospital in Sweden with highly specialized care for genodermatoses. Genodermatoses mainly affects the skin, but sometimes also mucous membranes and other parts of the body. Examples of these diseases are ichthyosis and keratoderma, where the skin becomes thickened and dry, as well epidermolysis bullosa, where the skin instead becomes fragile with it blistering and ulceration. The symptoms can vary from relatively mild skin problems to severe and life-threatening conditions. Because genodermatoses are rare and complex they can be difficult to diagnose. Currently, a combination of anamnesis and examination of the patient, family history and genetic tests and sometimes skin biopsies are used to give a diagnosis. Despite this, the genetic cause is found in only about half of the patients. The research project that we are carrying out on genodermatoses aims to increase understanding of the diseases and improve diagnostics. The study is conducted in collaboration between various units at the Uppsala University Hospital such as the skin clinic, clinical genetics and the children's hospital. This research study uses new advanced methods, such as RNA sequencing and long-read sequencing, in order to improve diagnostics and find more genetic causes to the diseases, so that more patients can receive a diagnosis. Long-read sequencing is a technique that makes it possible to study the parts of our genome that are most Difficult to interpret. This method can identify genetic changes that are otherwise difficult to detect, and has already shown promising results in research. Finding the genetic cause is important to make a safe diagnosis and provide information about heredity and prognosis, and to be able to take part in care efforts within precision medicine. With research and increased knowledge new opportunities for development of new treatment options arise. This study is carried out in collaboration with Clinical Genomics in Uppsala, in order to quickly integrate our research results into healthcare and be able to offer improved diagnostics for patients with genodermatoses. Clinical Genomics at SciLifeLab in Uppsala is fully integrated into Uppsala University Hospital and is assigned to offer service to promote translational research and develop new diagnostics in collaboration with healthcare, for example with long-read sequencing.