Professor Bekim Sadikovic
A Diagnostic Bridge Between Genotype and Phenotype
SECTION: GENOME ANALYSIS
The Amsterdam University Association of the Faculty of Medicine, University of Amsterdam awarded Prof. Bekim Sadikovic the Spinoza Chair in support of his groundbreaking research into the role of the epigenetic landscape in neurological disease.
Despite rapid advances in sequencing technologies, half of patients with genetic neurological disorders remain without a molecular diagnosis. The key limitation is our ability to detect and interpret subtle changes of the DNA, for example, changes that do not involve alterations in the coding sequence of base pairs. Chemical modifications that may alter functional features of DNA while the underlying DNA sequence remains unaffected are called epigenetic alterations.
“An expanding number of genetic syndromes have been shown to have unique epigenetic patterns. The challenge is that this epigenetic landscape is very complex. How do you separate what is relevant for disease and what is not?” Prof. Bekim Sadikovic
Shedding light on the role of DNA methylation in human health and disease
To bridge the gap between epigenetic phenotype (disease manifestation) and genotype (underling genetic cause), Prof. Bekim Sadikovic has orchestrated a large-scale global collaboration to create a vast database that houses epigenetic DNA data from thousands of control samples, in addition to samples from many patients with genetic syndromes.
“By comparing the epigenetic profiles of patients with controls, very specific ‘episignatures’ can be determined for these patients that are useful for diagnosis and sometimes even prognosis,” says Prof. Sadikovic.
Spinoza Chair for Prof. Bekim Sadikovic
The Department of Human Genetics at Amsterdam UMC has worked intensively with Sadikovic’s research group for many years. In recognition of this fruitful collaboration, Bekim was awarded the prestigious Spinoza Chair of the UvA Alumni Association of the Faculty of Medicine, University of Amsterdam.
Prof. Sadikovic, nominated for this prize by Professors Mannens and Meij, was also appointed Professor of Epigenetics of Disease in the Department of Human Genetics at Amsterdam UMC in 2022.
Prof. Bekim Sadikovic with the Spinoza award accompanied by Prof. Hans Meij (left) and Prof. Marcel Mannens (right).
He will work part-time at Amsterdam UMC in addition to his position as professor at the Western University of Ontario in London, Canada.
In honor of the appointment, Prof. Sadikovic gave the Spinoza Lecture on Clinical Epigenomics and taught an interactive Master Class for PhD students and postdocs in June 2022.
“We are honored Prof. Sadikovic has been awarded the Spinoza Chair in Medicine 2022 and look forward to more close collaborations,” says Prof. Marcel Mannens, ad interim department head, Dept. of Human Genetics Amsterdam UMC.
Bekim Sadikovic, Professor of Epigenetics of Disease
Prof. Bekim Sadikovic completed his PhD at Western University, followed by the Canadian Cancer Society Postdoctoral Fellowship at the Princess Margaret and SickKids Hospitals in Toronto, and his clinical training through the ABMG Clinical Molecular Genetics and Clinical Cytogenetics Fellowships at Baylor College of Medicine in Houston, USA. His research focuses on the development and clinical implementation of molecular genetics and epigenetic diagnostic technologies. Prof. Sadikovic is the principal investigator leading the research team that invented and developed EpiSign technology, the first clinical genome-wide assay for diagnosis of rare genetic conditions using epigenetic analyses.
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