Genomic structure and transcriptional behavior of ring chromosomes causing rare disorders
Populärvetenskaplig sammanfattning av projektet
Rare diseases might only occur rarely, but their emotional impact is of similar size compared to conventional diseases. Altered chromosomes are usually the cause of these rare diseases which play a major role in early life as well as in adulthood. How to identify and, equally important, how to interpret the chromosomal errors? It is not easy but with the right tools and good comparisons many cases are solved with a full diagnosis. Chromosomal anomalies can cause trouble during early brain development, e.g. in neuronal networking. What do you think can happen, when the fine ensemble of many different cells is not well orchestrated? As one method to analyse what is going on, we take cells from the patient and let them play in our labs. We pinpoint the alteration in the genom and solve the question on how the ring was formed and related genetic consequences on the cell. THe more methods we can include in the analysis the more fine-tuned characeterisation will be which directly helps the patient (precision) and further supports analyses of unsolved cases (versatility).