About M.I. (Gosia) Srebniak, PhD
Introduction
Malgorzata Ilona (Gosia) Srebniak is a laboratory specialist in clinical genetics and a principal investigator at the Department of Clinical Genetics. She studied biology at the University of Silesia in Katowice (Poland) and molecular genetics at the University of Aarhus (Denmark). She obtained her doctoral degree at the Medical University of Silesia (Poland). Since 2005 she has worked as a laboratory specialist in clinical genetics at the Department of Clinical Genetics at Erasmus MC in Rotterdam. Her main focus is prenatal diagnosis and screening. She was a key member of the TRIDENT (NIPT) consortium and is an active member of the department innovation team. She strongly advocates for multidisciplinary approach in genomic medicine and her research explores the scope and use of preventive genomic testing and screening from a technical, clinical, societal and ethical perspective.
Field(s) of expertise
Dr. Srebniak has extensive experience in genetic diagnosis and the application of high-resolution genomic technologies in clinical settings, particularly for pregnancies at risk of congenital anomalies and prenatal screening. She has contributed to national and international discussions on the utility, limitations, and ethical considerations of genome-wide testing in prenatal care. Her research also explores innovative cfDNA-based techniques for both prenatal and tumor innovation.
Education and career
Dr. Srebniak holds a master's degree in Biology and a doctoral degree in Medical Science, which led her to specialize in Clinical Genetics. She is currently affiliated with the Department of Clinical Genetics at Erasmus MC, where she combines patient care with research and innovation in genetic diagnosis and screening.
Publications
Please visit the PubMed link for the full list of publications. Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review Valovicova et al. https://pmc.ncbi.nlm.nih.gov/articles/PMC12322242/ The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies. Diderich et al. https://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.6676 The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis Diderich et al. https://www.sciencedirect.com/science/article/pii/S1769721223001507?via%3Dihub
Teaching activities
• Supervisor of (medical) students and residents in Clinical Genetics
• Contributor to postgraduate education in genomic medicine (a.o. PhD thesis supervisor)
• Internship supervisor for the program Genomics in Society
• Contributor to postgraduate education in genomic medicine (a.o. PhD thesis supervisor)
• Internship supervisor for the program Genomics in Society
Other positions
Member of the Dutch Workgroup on Prenatal Genetics
Member of the Dutch Committee for Incidental Findings
Coordinator of Erasmus Gene Bank (Biobank of the Department of Clinical Genetics)
Editorial Board Member of Molecular Cytogenetics
Member of the Dutch Committee for Incidental Findings
Coordinator of Erasmus Gene Bank (Biobank of the Department of Clinical Genetics)
Editorial Board Member of Molecular Cytogenetics
