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Faculty

  • Keynote lecture | Reproductive medicine
    Current issues and future developments in reproductive medicine
     

  • Han Brunner

    About

    I am professor for Human Genetics and head of the Institute of Human Genetics at Radboud University Nijmegen Medical Centre. I am also the current chairman of the Institute of Clinical Genetics at Maastricht University, the Netherlands. In my career, I have initiated and conducted several research projects that use clinical genetic observations as the starting point for human molecular genetic investigations into such topics as human behaviour, skeletal development, brain development, neuromuscular disease, congenital malformations, and gonadal development and function.

    Abstract

    Lecture 1 | Preconception care and preconception carrier testing
    What if we are all carriers for a recessive disease? 

    In this presentation which will take the shape of an informal workshop, we shall answer the following questions, and look at the implications for preconception carrier screening. 

    • What percentage of the population is a carrier for at least one heterozygous disease-causing variant? 
    • How many recessive variants do we all carry on average? 
    • What are the odds that a random couple are both carriers for the same recessive disease? 
    • What are the odds that my first cousin carries the same recessive allele as I do?

    References

    • Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice. Sallevelt SCEH, Stegmann APA, de Koning B, Velter C, Steyls A, van Esch M, Lakeman P, Yntema H, Esteki MZ, de Die-Smulders CEM, Gilissen C, van den Wijngaard A, Brunner HG, Paulussen ADC.  Genet Med. 2021 ,23:1125-1136. PMID: 33742171 
    • The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects. Fridman H, Yntema HG, Mägi R, Andreson R, Metspalu A, Mezzavila M, Tyler-Smith C, Xue Y, Carmi S, Levy-Lahad E, Gilissen C, Brunner HG. Am J Hum Genet. 2021, 108:608-619. PMID: 33740458
  • Prof. dr. Christine de Die-Smulders

    About

    Christine de Die-Smulders is clinical geneticist at the Maastricht UMC+. She is a professor in Preimplantation Genetic Testing and Reproductive Genetics. Since its start in 1995 she is the coordinator of the clinical PGT activities in Maastricht and since 2008 of the national PGT program. She published more than 200 papers. Her research focus is on counseling and clinical evaluation and follow of PGT treatments. 

    Lecture 2 | Reproductive genetics
    Challenges of reproductive genetic counseling

  • Guido de Wert

    Lecture 3 | Preimplantation care - ethical considerations
    On the ethics of new genomic technologies in reproductive medicine

  • Lecture 4 | Preimplantation care
    Epigenetic dynamics from egg to embryo and their impact on reproduction
     

  • Masoud Zamani Esteki

    Lecture 5 | Preimplantation care - European PGT data
    Trends and development in PGT

  • Lecture 5 | Preimplantation care - European PGT data
    Trends and development in PGT

  • Joris Vermeesch

    About

    Joris R. Vermeesch, Ph.D. Ir, is staff member of the center for human genetics Leuven, is professor Molecular Cytogenetics and genome research and founder and coordinator of the KU Leuven genomics core facility . 

    The lab is a pioneer in single cell array development and massive parallel sequencing applications in preimplantation, prenatal and postnatal diagnosis. The laboratory studies the mechanisms underlying chromosomal instability and rearrangements. The laboratory developed and translated novel methods for non-invasive prenatal and cancer testing, developed and implemented NIPS in the clinical diagnostic laboratory. The group is partner of the SymbioSys, the systems biology center of excellence in computational biology. He has published over 400 publications with an WOS H-index 70. Prof. Vermeesch is founder of a spin-off company Cartagenia.

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    Abstract

    Lecture 6 | Liquid biopsy in reproductive medicine
    Liquid biopsy in reproductive medicine

    Non-invasive sampling of an individual’s body fluids is an easy means to capture circulating cell-free DNA (cfDNA). These small fragments of DNA carry information on the contributing cell’s genome, epigenome, and nuclease content. Analysis of cfDNA for the assessment of genetic risk has already revolutionized clinical practice, and a compendium of increasingly higher-resolution approaches based on epigenetic and fragmentomic cfDNA signatures continues to expand. Profiling cfDNA has unlocked a wealth of molecular information that can be used for prenatal diagnosis. I will present how we use cfDNA analyses for the diagnosis of the fetus, the pregnant mother and explore new avenues for liquid biopsy.

  • Lecture 7 | Liquid biopsy in reproductive medicine
    The imporance of nationwide NIPT
     

  • Lecture 8 | Prenatal care
    Why should we carry out clinical follow-up of aberrant NIPT?
     

  • Lecture 9 | Prenatal care imaging
    The role of current and emerging techniques in reproductive medicine
     

  • Lecture 10 | Endometrium biology
    The role of endometrium receptivity in pregnancy success
     

  • Lecture 11 | Ovary preservation
    Preserving fertility in women

  • Susana M. Chuva de Sousa Lopes

    About

    Susana M. Chuva de Sousa Lopes is Full Professor Human Developmental Biology at the Dept. Anatomy and Embryology, Leiden University Medical Center, the Netherlands and appointed Guest Professor at the Dept. Reproductive Medicine, University Ghent, Belgium. Her lab studies the urogenital system, in particular male and female gametogenesis, but is interested in all the processes that take place during human development. She uses human pluripotent stem cells as model to study aspects of human development. She was awarded the de De Snoo-van’t Hoogerhuijs prize and Aspasia award, is funded by ERC and VICI grants and is the past coordinator of the Special Interest Group “Stem Cells” of the European Society of Human Reproduction and Embryology (ESHRE).

    Abstract

    Lecture 12 | Artificial gametes
    Artificial gametes: how far are we from making (mature) human oocytes and sperm cells?

    Human gametogenesis is a complex process that we are still far from understanding and even further from mimicking in the laboratory. Oogenesis starts with the specification of primordial germ cells and culminates with the production of mature (metaphase II) oocytes, ready to be fertilized and finally resume meiosis. I will discuss our ongoing efforts to characterize the different stages of human oogenesis at the single-cell (transcriptomics) level and how this framework together with bioengineering technologies, such as the use of microfluids and biomaterials, is contributing to optimize protocols to develop and mature human oocytes from the (fetal and adult) ovary. I will also discuss the progress in male gametogenesis. Moreover, I will present our advances regarding in vitro gametogenesis starting from pluripotent stem cells. Learning how to develop and mature gametes in the laboratory may lead to more effective personalized-therapy for fertility preservation and contribute to the development of an in vitro mini-gonad organoid model to use in human reproductive toxicology and disease modelling.

  • Joris Veltman

    About

    I am the Jacobson chair of Personalized Medicine and Dean of the Biosciences Institute at Newcastle University in the United Kingdom. My research has contributed to unravelling the genetic causes of rare disease, to our understanding of mutational mechanisms underlying genetic disorders and to the implementation of genomics approaches in medicine. I now focus on unraveling the role of de novo mutations in severe male infertility as well as the impact of artificial reproductive technologies on the genome of the offspring. With my research group I study the genomes of patients using next generation sequencing technology and combine laboratory experiments with novel bioinformatics approaches. In addition, I am actively involved in the implementation of these novel genomics approaches in routine clinical diagnosis, aiming to improve the diagnostic yield, reduce the turn-around-time and make personalized medicine a reality. I am a founding member of the International Male Infertility Genomics Consortium and the co-lead for the ‘Genomics’ arm of this consortium. 

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    Abstract

    Lecture 13 | Male infertility
    Genetics of male infertility

    Severe forms of male infertility are mostly genetic in origin. Well-known genetic causes include Klinefelter syndrome and AZF microdeletions on the Y chromosome, but together these only explain a minority of all genetic forms of male infertility. Genetic studies have undergone a revolutionary change in the last decade with the widespread availability of genome sequencing technology. This has dramatically improved the diagnosis of most genetic diseases. Unfortunately, this genomics revolution has largely bypassed our field and diagnostic guidelines for male infertility have not been updated to include next generation sequencing approaches. As a consequence, patients are not receiving information about the underlying cause of their infertility, and genetics information is rarely used to inform couples about the predicted success of assisted reproductive approaches or about preventable co-morbidities.

    In this presentation I will discuss the genetics of male infertility and highlight some recent advances in the field. In addition, I will discuss our current research, which is focused on studying the role of de novo mutations (DNMs) and structural variations in severe forms of male infertility. I will highlight the importance of data sharing and critical evaluation of evidence for causality in genetic studies. Finally, I will try to look into the future and discuss how improved genetic diagnosis may help to improve patient care and human reproduction.

    References

    • Oud et al. A de novo paradigm for male infertility. Nature Communications 13: 154 (2022).
    • Xavier et al. Disease gene discovery in male infertility: Past, Present and Future. Human Genetics (2021).
    • Houston et al. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. Human Reproduction Update 28: 15-29 (2021).

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