Diagnostic, prevention and treatment platform for tandem-repeat expansion diseases.

Purpose and goal:

Within the collaborative project ”A platform for diagnostics, prevention and treatment of tandem-repeat expansion disorders” we are developing 1) a new form of molecular diagnostics and 2) prevention and treatment for a group of hereditary diseases which mainly affect muscle and brain cells. The therapy is based on oligonucleotides which are related to chromosomal DNA.

Expected results and effects:

We hope to be able to develop diagnostics that enables sequencing of repetitive DNA-sequences, known to be difficult to determine. This is of importance because single nucleotide changes can influence the expansion rate. We hope to be able to restore the production of the affected protein and also to observe preventive effects.

Approach and implementation:

We have developed synthetic oligonucleotides which have the capacity to bind directly to chromosomal DNA. Other technologies within this field are specifically directed towards messenger RNA. By studying the influence of different chemistries and design of oligonucleotides in cells we hope to be able to optimize theses experimental medicines to prepare for clinical use.