Optical genome mapping holds potential to develop into an vital element of leukemia diagnostics

Optical genome mapping entails the extraction of very lengthy DNA molecules, for instance routinely collected blood samples or bone marrow materials from sufferers. These lengthy DNA molecules are labeled with dye molecules at greater than half one million completely different positions in the whole human genome and are then transferring by means of ultrathin nanochannels on a particular chip. Because the DNA molecules transfer by means of the nanochannels, a laser is used to make them seen and they’re photographed utilizing a fluorescence microscope. The pictures of the whole genome are then analyzed utilizing bioinformatic analyses. “The goal is to establish and interpret modifications in genetic areas which might be related for the event of most cancers,” explains Dr. Wanda Gerding from the Bochum Division of Human Genetics.

Optical genome mapping thus facilitates genome-wide evaluation of areas which might be vital for the classification and remedy of leukemias utilizing one methodology. Moreover, it additionally permits the identification of latest related genomic areas and new genes.

Dependable and extra outcomes

Within the present examine, the workforce in contrast the methodology to present commonplace diagnostics in sufferers with acute myeloid leukemia in addition to myelodysplastic syndromes. The researchers confirmed that the outcomes obtained by optical genome mapping methodology had been concordant in 93 per cent of samples in contrast toa standard methodology, the so-called cytogenetic karyogram, the place entire chromosomes are visualized. In 67 per cent of the samples, it was even doable to acquire further genetic data.

The methodology can thus not solely detect structural modifications within the genome extra precisely, but in addition has the potential to develop into an vital element of routine diagnostics for sufferers with leukemia.

As an additional profit, genome analysis can present knowledge and new insights for additional analysis work within the subject of tumor biology.”

Dr. Wanda Gerding from the Bochum Division of Human Genetics

Cooperation companions

For the challenge, the Human Genetics Division at RUB, headed by Professor Huu Phuc Nguyen, cooperated with the Haematology, Oncology, Stem Cell and Immunotherapy Division of the Knappschaftskrankenhaus Bochum, headed by Professor. Roland Schroers, a member of the Centre for Haematooncological Ailments (ZHOE) at RUB, and Professor Peter Reimer from the Haematology, Inside Oncology and Stem Cell Transplantation Division at Evangelische Kliniken Essen-Mitte. The shut scientific cooperation of each departments was ensured by Dr. Deepak Vangala, Dr. Wanda Gerding, Dr. Verena Nilius-Eliliwi (funded by the “Feminine Medical Scientist” programme of the RUB Medical College) and medical scholar Marco Tembrink (Human Genetics, medical doctoral scholarship holder from FoRUM, Medical College of the RUB (FoRUM RUB). The challenge acquired a optimistic vote from the Ethics Committee of the RUB Medical College (No. 20-7063).


Journal reference:

Gerding, W.M., et al. (2022) Optical genome mapping reveals further prognostic data in comparison with standard cytogenetics in AML/MDS sufferers. Cell Studies. doi.org/10.1002/ijc.33942.

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