Erşen danyeli A. (Yürütücü), Bilgüvar K. , Akyerli boylu C. , Can Ö. , Tanrıkulu B. , Özduman K.
Every cell in a human body has basically the same DNA, but still, different cell types exist. Modification of the DNA surface, the DNA methylation, is
essential to keep this specialization.
Recent research has shown that this surface marks are also present and stable in tumor cells, and that they allow to distinguish tumors in an
unprecedented precision. This allows much more reliable diagnostic precision for patients with cancer. The value of this approach has been confirmed
in several International trials, initially but not limited to brain tumors, and now methylation profiling has entered clinical guidelines.
A paramount tool when using DNA methylation for diagnostics is the Heidelberg classifier, a computer algorithm assigning any given specimen to the
correct diagnosis based on its methylation data (available on www.molecularneuropathology.org). However, applying this algorithm currently requires
a data input that is generated in a tedious, lengthy and costly manner. This prevents some centers from employing this tool, and even where it is
availabe, the duration until results are generated hampers patient care.
Here, we expect that transferring this concept to a more widely accessible and faster platform, and expanding the scope of assessable specimen to
blood or cerebrospinal fluid and increasing resolution to even single cells, will have tremendous translational impact:
This will result in a diagnostic workflow feasible globally, and allowing for more individualized and risk-adapted care, spanning early detection, surgery
planning, intra-operative surgery guidance, treatment monitoring and insight detection of resistance mechanisms.
Teams from Germany, Norway, Turkey and Canada join forces in this effort: This consortium will overcome all these current hurdles and unleash the
full potential of this epigenetics-based diagnostics. They have each special expertise and experience in tumor classification, the bioinformatics behind
methylation-based classification, the application of a novel data generation technology called "long-read sequencing", in liquid biopsy sample
characterization, and are located at centers with large patient numbers allowing to representatively roll-our novel developments.
They will develop a rapid, accessible platform for generating methylation results leveraging long-read sequencing, optimize this in accuracy and turnaround time for intra-operative use and for liquid biopsies, and paradigmatically establish these development jointly in a large center of the partner in
which molecular profiling is so far not regularly available due to the aforementioned hurdles, that will here be overcome.
Collectively, this will transform patient care globally by providing access to precise individual diagnostics with higher resolution and in any setting.