Šárka Pospíšilová

Prof. RNDr. Šárka Pospíšilová, Ph.D., is vice-rector for research and doctoral studies at Masaryk University (MU) in Brno, Czechia.  She works as a head of the Centre of Molecular Medicine in the Central European Institute of Technology (CEITEC) and head of the Department of Medical Genetics and Genomics, Faculty of Medicine MU and University Hospital Brno.  Her expertise is molecular genetics and genomics with a focus on molecular haematology.  She is a co-author of 220 scientific publications with more than 5,000 citations (H-index 42) and 7 patents, represents the Czech Republic in the EU Initiative 1+ Million Genomes and coordinates the project on the Analysis of 1,000 Czech Genomes for Theranostics (A-C-G-T).  In 2022, she is leading the organisation and implementation of the Mendel 2022 conference, commemorating the bicentennial of Mendel’s birth.  She also has overseen the historical, anthropological, and genomic examination of Mendel’s remains, and their reinternment.

Mendel’s birthplace (Photo by D.J. Fairbanks)

Could you briefly describe the most important discoveries made by the research group in Brno in its scientific and historical examination of Mendel’s remains, especially the sequencing of Mendel’s genome?

The celebrations of bicentennial anniversary of Gregor Johann Mendel’s birth in Brno in the Czech Republic, where Mendel lived and worked, have been in thoroughly prepared more than two years in advance.  One of the most challenging projects planned by researchers from Masaryk University in Brno in collaboration with the Order of St. Augustine was archaeological research of the Augustinian tomb at the Central Cemetery in Brno, which was presumed to contain Mendel’s remains, followed by their anthropological and genetic examination.  A detective-like search has been successful, and we have found and identified Mendel’s remains.  Mendel’s nuclear and mitochondrial DNA have been isolated from the roots of his teeth, and, after special pre-treatment and enrichment, we performed whole-genome sequencing.  In parallel, we searched for Mendel’s personal belongings in the Augustinian Abbey, which could also provide any traces of his biological material.  And we succeeded in finding a hair in Mendel’s favourite book and isolated its mitochondrial DNA, which showed a perfect match with the DNA obtained from the remains.  Together with the archaeological and anthropological findings we obtained proof of Mendel´s identity.  Finally, the knowledge of Mendel´s genome symbolically enabled us to detect his genetic pathogenic variants with Mendelian inheritance.

The exhumation and reinternment of Mendel’s remains, and others buried in the same tomb with him, were conducted in a respectful manner with the support and assistance of the Augustinian Order and Roman Catholic officials.  Could you describe some of the efforts made to ensure appropriate reverence and respect for Mendel in this project?

Gregor Johann Mendel died on 6 January 1884 and was buried in the Central Cemetery in Brno, which was completely new at the time (founded in November 1883).  The Augustinian tomb was built more than a year after his death.  However, even after searching historical sources and numerous discussions with senior members of the Augustinian Abbey, we could not be certain whether Mendel’s remains were actually located in the tomb.  Based on a common agreement between the Augustinians and Masaryk University, and, having research teams with all necessary expertise for performing the research, this daring project was initiated.  Inspired by Mendel’s tenacity and perseverance, we began by obtaining the necessary permits to ensure that everything was done according to the rules and in accordance with the legislation and ethics of scientific work.  However, the project would not have been possible without the permission of the Brno municipal authorities and without the consent and involvement of the highest representatives of the Order of St. Augustine.  And mainly the contemporary Augustinians of Old Brno, who cared for the legacy of Gregor Johann Mendel, appreciated the significance of the whole project, and personally took part in the whole research.  They also organised the subsequent reburial and reverence ceremony of Mendel and his deceased Augustinian brothers, in the presence of leading representatives of Masaryk University and other scientific institutions, the city of Brno, and the Czech government.