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About

Diana W. Bianchi is the Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and a Senior Investigator in the Center for Precision Health Research at the National Human Genome Research Institute (NHGRI); both are at the National Institutes of Health (NIH). She is responsible for leading a $1.6B research portfolio that focuses on children, reproductive biology and pregnancy, and physical and intellectual disabilities. She received her M.D. from Stanford University and her postgraduate training in Pediatrics, Medical Genetics and Neonatal-Perinatal Medicine at Harvard.

Dr. Bianchi’s research focuses on noninvasive prenatal screening and development of novel fetal therapies for genetic disorders. She has published over 350 peer-reviewed articles and is one of four authors of Fetology: Diagnosis and Management of the Fetal Patient, which won the Association of American Publishers award for best textbook in clinical medicine in 2000. She has held multiple leadership positions, including Presidencies of the International Society for Prenatal Diagnosis (ISPD) and the Perinatal Research Society, council memberships in the Society for Pediatric Research (SPR) and the American Pediatric Society, as a member of the board of directors in the American Society for Human Genetics. She served as the Editor-in-Chief of the journal Prenatal Diagnosis from 2007-2020.

Dr. Bianchi has received the Neonatal Landmark Award from the American Academy of Pediatrics, the Maureen Andrew Award for Mentorship from the Society for Pediatric Research, the Colonel Harland Sanders Award for lifetime achievement in Medical Genetics from the American College of Medical Genetics, the Pioneer Award from ISPD, and the Health Public Service Visionary Award from the Society for Women’s Health Research. In 2013 she was elected to the National Academy of Medicine. She received a Ph.D. honoris causa from the University of Amsterdam in 2020.

Abstract

Keynote lecture | Reproductive medicine
Prenatal Precision Medicine: Earlier is Better for Mom and Baby

Reproductive genetics is one of the fastest moving specialties in medicine and is an area in which the scientific and technical advances of the Human Genome project have not only  translated but have transformed care. Fetal imaging facilitates first trimester detection of fetal structural anomalies. Prenatal screening for fetal chromosome abnormalities has transitioned from biochemical and nuchal translucency measurements to analysis of circulating cell-free (cf) DNA in maternal plasma. cfDNA sequencing is far more accurate than prior methods of screening for fetal aneuploidy. This has resulted in a global decrease in diagnostic procedures such as amniocentesis or chorionic villus sampling. Measurement of circulating cfRNA has the potential to provide functional information about the fetus and the placenta.  Results from DNA sequencing of both critically ill and healthy neonates are changing clinical management and may even change recommendations for preconceptual carrier screening. I have titled this keynote lecture “Earlier is Better for Mom and Baby,” because I will show two examples in which prenatal screening and diagnosis can potentially lead to fetal treatment and/or treatment of the mother for incidental results detected following cfDNA sequencing.

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

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. 

Abstract

Lecture 2 | Reproductive genetics
Challenges of reproductive genetic counseling

The ability to diagnose and prevent genetic disorders before an existing pregnancy and to detect embryonic and fetal genetic errors has dramatically increased in recent years, and has substantially changed the counseling of couples wanting a child.

Reproductive counseling has become more extensive because the complexity of results of testing and the availability of multiple options for patients to choose. It nowadays not only includes information on the risk for offspring but also, for example, on preconception carrier testing, non invasive and invasive prenatal testing and preimplantation genetic testing (PGT).

In PGT fertility and IVF related issues (such as burden of treatment and chance of pregnancy) may influence the choice of couples. In this context, reproductive genetics counseling is usually a multidisciplinary task and  provides a natural context for shared decision-making.

About

Guido de Wert, ethicist, is professor of Biomedical Ethics at the Faculty of Health, Medicine and Life Sciences, Maastricht University, The Netherlands. His main research interests regard the ethics of genomic, reproductive and regenerative medicine. Guido de Wert was a Crown-appointed member of the Health Council of the Netherlands for many years, and is a member of both the Professional and Public Policy Committee (PPPC) of the European Society of Human Genetics (ESHG) and the Ethics Committee of the European Society of Human Reproduction and Embryology (ESHRE). 

Abstract

Lecture 3 | Preimplantation care - ethical considerations
Reproductive genomic screening: ethical reflection

Reproductive genomics is being increasingly applied in the context of screening. In this lecture, three domains of  reproductive screening will be scrutinized from a moral perspective, namely prenatal, preconception and preimplantation genomic screening, taking account of the three ethical screening criteria as stipulated by the WHO: proportionality, respect for autonomy and justice. Special attention will be given to relevant document and recommendations of the two European professional societies most directly involved in the development and provision of such screening: the European Society of Human Genetics (ESHG) and the European Society of Human Reproduction and Embryology (ESHRE).

About

Gavin Kelsey is head of the Epigenetics Programme at Babraham Institute in Cambridge, UK, and affiliate group leader at the Centre for Trophoblast Research and Wellcome-MRC Institute of Metabolic Science-Metabolic Research Laboratories at the University of Cambridge. His group currently focuses on understanding how epigenetic information is established in germ cells and the impact of gamete-derived epigenetic states in the early embryo. This extends to investigating how epigenetic information may be altered by factors such as advanced maternal age, or diet or by assisted reproduction procedures  As part of these investigations, the group has pioneered methods for profiling epigenetic information genome-wide in very low numbers of cells and single-cells, including mutli-omic methods that obtain transcriptomic and epigenetic data from the same cell.

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Abstract

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

As well as providing genetic instructions to the embryo, our gametes also contribute essential ‘epigenetic’ information, comprising DNA modifications such as methylation, and post-translational modifications of chromatin proteins. Some of this epigenetic information is important for activating the genome in the zygote, and some persists throughout the lifetime, as at imprinted genes. But there is also profound resetting of much epigenetic information that serves to insure against transmission of epigenetic errors between generations. Thus, it is important to understand how epigenetic information in the gamete and preimplantation embryo is normally processed, and whether it is vulnerable to adverse physiological states or to procedures applied during assisted reproduction, such as embryo culture. Genome-wide profiling methods have become essential in this understanding.

About

Masoud Zamani Esteki is associate professor of Genomic Medicine and Reproductive Genetics in Maastricht University Medical Center (MUMC+) and Maastricht University (UM).  Masoud’s research lies at the intersection of classical genetics, molecular and developmental genetics, clinical genetics, bioinformatics, and artificial intelligence. During the course of his (post)doctoral research, he has invented methods to study genome instability in early human development with application to the clinic, such as preimplantation genetic testing (PGT) and non-invasive prenatal testing (NIPT). Specifically, he has been developing, applying and translating integrative wet- and dry-lab approaches that uncover the genome’s allelic architecture in samples derived from many cells down to a single cell. Some of these technologies are now being used as routine diagnostic genetic tests.
See Masoud's hope and vision for the field. 

Masoud leads the Cellular Genomic Medicine (CGM) group. CGM has several lines of active research centered around progressive innovation in Reproductive Medicine, e.g. development and application of novel methods for characterizing different molecular layers, their interplay and connectivity, and their impact on cellular identity and function. In particular at early stages of life. CGM constantly explores new avenues towards translating their research into the clinic.

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

About

Fernando Bronet is the Director of the IVF and PGT Laboratories at IVI Madrid since 2008. He graduated from the Universidad Complutense de Madrid in 2000, where, in 2005, he also completed a PhD at the Department of Animal Physiology. In 2008, he completed a Fellowship at Melbourne IVF, before returning to take on his current position. He has a Senior Embryologist certificate from ESHRE and serves on the executive board of the ESHRE PGT Consortium (Steering Committee).

He has been invited to speak nationally and internationally and authored or co-authored several book chapters and numerous articles in peer-reviewed journals. He also serves as Ad Hoc Reviewer for Fertility and Sterility, Human Reproduction, Reproductive BioMedicine Online, Journal of Human Reproductive Sciences, Journal of Assisted Reproduction Genetics, Molecular Human Reproduction Reproductive Biology and European Journal of Obstetrics & Gynecology. 

Fernando Bronet has been involved in teaching since his early career, imparting postgraduate courses since 2005. Presently he is the Coordinator of the Genetic in Human Reproduction Module from the Master’s Degree in Biology and Technology of Assisted Human Reproduction at Madrid European University. 

Abstract

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

More than 30 years have passed by since Handyside published the first biopsy on human embryo. During this time different techniques, methods and medical indications have been involved in Preimplantation Genetic Diagnosis. Along this time there was a debate about the useful of this tool. Therefore, there was a debate about when is better to perform the embryo biopsy (cleavage embryos vs. blastocyst), about genetic analysis method (FISH, aCGH, NGS…) or the benefit of the PGT in different medical indications. One of the first aim if the PGD was to detect embryos that were carriers of some illness or karyotype abnormality. Later PGD was proposed as an option to select better the embryo for transfer, in order to avoid chromosomal abnormal embryos that can end in an implantation failure or in a miscarriage. Currently the advances on DNA amplification methods allows the study of the whole Karyotype of the embryos, in fact the study of a single gene disorder and karyotype of an embryo can be done simultaneously. Moreover, the possibility of study some polygenic diseases is discussed these days. These new techniques give us more and new information; however, new information usually come with some questions.
 

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
 

About

Robert-Jan Galjaard works in the field of genetic prenatal diagnosis since 1991. He obtained a degree as a clinical geneticist, clinical genetic laboratory specialist in prenatal cytogenetics in Rotterdam, and was trained in Paris and Houston in DNA research/positional cloning/mapping studies of neurological- and limb disorders. He has been heading the prenatal cytogenetic laboratory and clinical genetic prenatal staff and later the genetic counseling group of the dpt. of Clinical Genetics, Erasmus MC Rotterdam, during 19 years. His main research interests regards medical, ethical and psychological aspects of introduction of new techniques in prenatal medicine. A second line of our research concerns clinical and genetic studies in cases of congenital limb anomalies.

He has advised the government, local institutions, and was involved in training people in the set- up of his field in countries like Georgia and Iran. He was and is member of several Dutch committees related to his working field, for instance member of the executive committee of the Dutch NIPT consortium, the Dutch committee on indications for PGD, member of the Dutch Program Committee on prenatal screening.

Abstract

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

Non-invasive prenatal testing ( NIPT) uses cell free DNA to detect chromosome aberrations on a 5-10 Mb level. Since cell free DNA mainly originates from the mother and placenta, chromosome anomalies detected by NIPT can be confined to the placenta, be present in placenta and fetus, or in the mother alone. In order to make this distinction and give a prognosis of the pregnancy outcome, follow-up cytogenetic diagnostic testing after amniocentesis or chorion villus biopsy is required. 

Historically NIPT is focused on screening for common occurring fetal trisomies 21, 18 and 13. Genome-wide NIPT enables detection of other chromosome anomalies, which are therefore named additional findings ( AF). AF include rare autosomal trisomies ( RAT’s) and structural chromosome aberrations ( SA’s). Worldwide there is a true controversy whether or not  detection of NIPT AF is justified. This  because the clinical impact of most RAT’s is not well known and reporting of AF is feared to cause a major psychological burden for pregnant couples. In The Netherlands we studied the clinical impact of NIPT AF by offering GW-NIPT within the TRIDENT-2 study and carried out systematic clinical follow-up of AF cases. In addition we investigated the psychological impact of AF. We will discuss the lessons learned and to be learned from clinical  and psychological follow-up studies after a NIPT AF result. Furthermore we will address the question whether or not the advantages of reporting NIPT AF do outweigh the disadvantages.

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

About

Andres Salumets is the professor of reproductive medicine at the Karolinska Institutet (Stockholm, Sweden) and the University of Tartu (Estonia). Andres Salumets and his team focus on solving the translational challenges of reproductive medicine. In his research, over the past few decades, the central goal has been to get a better understanding of the biological processes of endometrial receptivity. These results have provided better insights into the biology of endometrial receptivity and characterised the interactions between implanting embryo and uterus. In addition, previous studies contributed to an improved understanding of aberrant endometrial receptivity in infertility-associated diseases and conditions, like implantation failure, PCOS and endometriosis. His team has also led the development of the beREADY endometrial receptivity test, which is growingly used by European fertility clinics. Recently, he and his colleagues have also been committed to the implementation of non-invasive tools for endometrial receptivity evaluation, by using proteome analysis of uterine fluid and developing the diagnostics based on extracellular vesicles. Along the aforementioned interests, his research involves human preimplantation embryogenesis, pathogenesis of infertility-causing diseases, and the development of non-invasive prenatal screening methods. Andres Salumets is the current president of the Baltic Fertility Society and was a member of the Executive Committee of ESHRE in 2015-2017. He is the founder of the Competence Centre on Health Technologies, the company in Estonia offering IVD CE marked genomic services for infertility and maternity hospitals. 

Abstract

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

Endometrial receptivity is at the crossroad of female reproduction. Research on endometrial receptivity has provided detailed insights into its biological mechanisms during the past few decades, while the recent surge of single-cell genomic studies has further clarified the cellular aspects, heterogeneity and intra-tissue interactions of receptive endometrium. At present, the molecular mechanisms that required to acquire the endometrial receptivity to support implanting embryo are fairly well defined. A number of endometrial receptivity tests have been clinically and commercially introduced to help clinicians to better guide the personalized embryo transfers. At the same time, the conducted studies are still pretty limited and controversial to develop unequivocal recommendations to support endometrial receptivity testing, which would also help to define the patient’s groups who would the most benefit from testing. The fact that invasive uterine tissue biopsy is unavoidable to assess endometrial receptivity is still a drawback, which does not allow the testing to be performed in the same IVF cycle preceding embryo transfer. Therefore, in recent years, more attention has been paid to the development of non-invasive endometrial receptivity testing, which is based on the analysis of uterine fluid genomic and proteomic biomarkers, and the features of extracellular vesicles. Although these approaches are more promising, future clinical studies are still needed to demonstrate the superiority of these tools. In the current lecture, the biological mechanisms associated with endometrial receptivity, different options and clinical evidence of endometrial tests on the market, and the future innovative solutions will be discussed.

About

Ge received her first degree in Biology from Nankai University in China.  She undertook her PhD at Baylor College of Medicine and the University of Cambridge with Prof. Allan Bradley.  During her PhD she developed approaches for recessive genetic screens using mouse embryonic stem cells. In 2006 she joined Prof. Austin Smith's laboratory and was awarded an MRC stem cell career development fellowship to investigate novel genes regulating mouse pluripotency. She then became intrigued by the difference between mouse and human pluripotent stem cell states and redirected her research towards the goal of human naïve pluripotency.  She is one of the pioneers in the establishment and validation of human naïve pluripotent stem cells.  In 2020, Ge joined the Living Systems Institute, University of Exeter, as a Principal Investigator. In her recent research Ge discovered the trophectoderm differentiation potential of human naïve pluripotent stem cells, which provides a unique platform for an integrated human blastocyst model.

Abstract

Keynote lecture | Reproductive medicine - organoids
Realizing the potential of human naïve pluripotent stem cells 

Human pluripotent stem cells (hPSCs) are an invaluable tool in biomedical research. Differently from conventional hPSCs, we have established human naïve pluripotent stem cells that exhibit features similar to pre-implantation epiblast in the embryo.  Recently we discovered that human naïve pluripotent stem cells have the unique developmental plasticity to give rise to all cell types in a developing embryo as well in extraembryonic tissues including the trophectoderm.  Taking advantage of the unique potential we have constructed a 3D cellular model, the “blastoid” that resembles human embryo in morphology and cellular composition solely by self-organization of human naïve stem cells. In this talk I am going to talk about human naïve pluripotent stem cells, the blastoid model and its potential applications in biomedical research. 

About

Pauliina Damdimopoulou is a newly appointed senior lecturer in reproductive and perinatal toxicology at the Division of Obstetrics and Gynecology, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, in Stockholm, Sweden. She defended her PhD thesis on dietary polyphenols and estrogen signaling in 2008 at the University of Turku, Finland, and has thereafter carried out postdoctoral studies on androgen signaling within biotech industry in Paris, France, and on early embryo development and ovarian biology at Karolinska Institutet in Stockholm Sweden. She started her independent laboratory, that focuses on the impact of chemicals on ovaries and fertility in women, in 2015. She is the co-coordinator of Sveafertil, the national fertility preservation study for girls and young women in Sweden, and an academic co-leader of the WISE women in science and education network at Karolinska Institutet. She has authored over 60 research papers.

• Damdimopoulou lab at Karolinska Institutet
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Abstract

Lecture 11 | Ovary preservation
Preserving fertility in women

Ovaries harbor the limited reserve of primordial follicles that contain immature oocytes. The reserve is formed during fetal development and cannot be replenished after birth. The size and quality of the reserve declines by age and define the fertility in women, which typically ends in menopause at around the age of 50 years. In some cases, ovarian function can decline already well before the average age of menopause, leading to infertility and associated health problems. For example, certain cancer treatments as well as conditioning therapies for bone marrow transplantations are gonadotoxic and present a high risk of infertility as a late side-effect. In addition, some environmental exposures associate to infertility in human cohort studies. In this presentation I will discuss the various factors that affect ovarian reserve and fertility in women, and the options available to preserve fertility.

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.

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).