Investigating genetic factors involved in the development and onset of Post-Finasteride Syndrome
Tampere University in Finland will begin investigating possible genetic factors involved in developing Post-Finasteride Syndrome. This research will continue building upon the important results from Baylor College of Medicine. These landmark findings demonstrated significant deregulation of gene expression in PFS patient tissue which correlated to observed biological differences in patients and their self-reported symptoms. While Baylor’s results indicate a what, we need to continue expanding into the why with more modern investigative techniques.
These efforts, combined with those already underway at The Institute for Human Genetics in Germany, hope to provide a more complete understanding of PFS, and why some patients experience persistent and severe health problems after discontinuing finasteride.
In this study, researchers will use a technique known as Whole Genome Sequencing (WGS) to analyse a cohort of PFS patients, looking for potential genetic factors that may predispose patients to developing the disease. The aims of investigating possible genetic factors involved in PFS are:
to understand the genetic predisposition to develop PFS
to understand why some individuals are affected and some are not
to prioritise genes implicated in the onset of the most common phenotypes
Understanding possible genetic factors involved in Post-Finasteride Syndrome could provide another path to accurate disease modelling in animals. Insights uncovered through research into patient genetics, along with potential insights from our existing line of scientific investigation, can contribute to establishing a disease model, with the objective of understanding the core pathomechanism and hopefully, an eventual target for precision medicine treatment of PFS.
An understanding of the predisposition will also:
clearly establish which consumers are at risk of developing PFS
help clinicians diagnose PFS faster and more accurately
Specifically, this study will use WGS to analyse the entire genome of 150 PFS patients compared to a group of healthy controls. WGS in principle allows the detection of disease relevant genomic variants beyond the exome such as DNA structural alterations, deep intronic variants, variants in non-coding regions, or repeat expansions and may improve variant calling in homologous sequences. It represents a novel, distinct diagnostic tool that targets genes and goes beyond the coding region and allows elucidation of established and novel non-coding genomic diseases.
The researchers involved in this project are accomplished in their fields and have a genuine interest in the disease. After extensive consultation and collaboration on our previous project, they are also aware of the multisystemic nature of PFS and other key peculiarities involved. The supervising lead, Dr Alfonso Urbanucci, has previously published in Cell reports evidence that overexpression of the AR is able to drive genome-wide chromatin relaxation and gene expression alteration in refractory prostate cancer. Collaborative input will be provided by Professor Johanna Schleutker, an accomplished geneticist.
Patients who previously completed the clinical survey conducted by Propeciahelp will be recruited first. If we cannot recruit 150 patients from this pool, we will then open invitations to the broader patient community.