Studies of gene expression, non-coding RNAs and epigenetic variations in rare congenital malformations
Forskarassistent, Karolinska Institutet
Populärvetenskaplig sammanfattning av projektet
We cannot increase the life quality of or bring treatment options to the majority of the rare disease (RD) patients and their families when we fail to solve two-thirds of the cases even if we managed to read their entire genome. Because we still struggle to interpret what we read in the genome and sequencing the entire genome alone is not enough in these cases. This is frustrating everyone involved in this process. Therefore, we have to widen our scope and use other methods to interpret what we read since the genome is more complex than a linear sequence of letters and interpreting the functional effect of some variants is more challenging than the ones in “solved” cases. Employing new approaches, we can solve aportion of these challenging “unsolved” cases with VACTERL association. These new approaches involve sequencing of gene products -RNA- and methylation marks on DNA.These two methods can help us discover and interpret genetic variants that could have been missed or not detected at all by whole genome sequencing.