Joris Veltman Research Group

Reproductive genomics and genomic medicine

Joris leads a multidisciplinary research group with expertise in genome technology and bioinformatics, applied to reproductive disorders. The group is particularly focused on studying the role of de novo mutations and structural variation in severe forms of male infertility, using short and long-read sequencing in patient-parent trios. 

It aims to identify genes, non-coding regions and biological mechanisms involved in male infertility and consecutively develop genetic tests for implementation in routine diagnostics. 

The male infertility studies are done in close collaboration with fertility experts from the University of Edinburgh and NHS Lothian, UK fertility clinics and international collaborators. Joris has co-founded the International Male Infertility Genomics Consortium (IMIGC.org) and is actively involved in promoting research and diagnostics of reproductive disorders.

In addition, his group supports the application of genomics approaches in rare disease and the study of complex genomics regions, as well as the clinical implementation of genomics tests. 

The group is always open to setting up new collaborations so please feel free to reach out.

 

Joris Veltman portrait
Professor Joris Veltman, Head of School of Genetics and Cancer

We are recruiting a lecturer, a postdoctoral fellow and a PhD student

Joris recently started as Head of the School of Genetics and Cancer and just moved to Edinburgh. If you are interested in joining his reproductive genomics and genomic medicine group, please contact him at jveltman@ed.ac.uk.

Contact

Publications

  1. Veltman JA, Tüttelmann F. Why geneticists should care about male infertility. Nature Reviews Genetics 25: 823-82 (2024).
  2. Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E; Genetics of Male Infertility Initiative (GEMINI) consortium, Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tüttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman JA. A de novo paradigm for male infertility. Nature Communications 13: 154 (2022).
  3. Holt GS, Batty LE, Alobaidi BKS, Smith HE, Oud MS, Ramos L, Xavier MJ, Veltman JA. Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach. Human Mutation 43: 1545-1556 (2022).
  4. Smits RM, Xavier MJ, Oud MS, Astuti GDN, Meijerink AM, de Vries PF, Holt GS, Alobaidi BKS, Batty LE, Khazeeva G, Sablauskas K, Vissers LELM, Gilissen C, Fleischer K, Braat DDM, Ramos L, Veltman JA. De novo mutations in children born after medical assisted reproduction. Human Reproduction 37: 1360-1369 (2022).
  5. Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA. Genome sequencing identifies major causes of severe intellectual disability. Nature 511: 344-7 (2014). 
  6. Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, Del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. A de novo paradigm for mental retardation. Nature Genetics 42: 1109-12 (2010).

Collaborations

  • International Male Infertility Genomics Consortium (IMIGC.org)
  • Godfried van der Heijden and Liliana Ramos, Radboud University Medical Centre, Department of Reproductive Medicine, Nijmegen, The Netherlands. 
  • Newcastle Fertility Centre, The Newcastle upon Tyne Hospitals NHS Foundation Trust. 

Partners and Funders

  • Wellcome Trust
  • Medical Research Council

Scientific Themes

genomics, genomic technologies, genomic medicine, disease gene identification, male infertility, spermatogenesis

Technology Expertise

Long and short read exome and genome sequencing. Identification and interpretation of de novo mutations and structural variation. Translational genomics and genomic medicine.

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