EGA Institute for Women's Health


Preimplantation Genetics

Our research seeks to understand the underlying genetic causes for infertility with the aim of helping couples undergoing assisted reproduction select embryos that are likely to lead to birth of a healthy child.

Background – UCL Centre for PGD and beyond

Joyce Harper, Sioban SenGupta and Joy Delhanty have worked together for many years offering a clinical preimplantion genetic diagnosis (PGD) service as UCL Centre for PGD. We performed the first ever cases using the FISH technique for clinical PGD in 1990. UCL Centre for PGD has continued to keep at the forefront of research and development and now offer array comparative genomic hybridization and karyomapping. Please visit www.ucl.ac.uk/PGD for further information.

As well as our clinical PGD service, Joyce and Sioban have their own research groups. Joyce has moved back to her roots in clinical embryology to work on genetics, embryology and IVF and Sioban has been studying the genetic causes of infertility. Please visit Embryology and IVF for further information on Joyce’s research.

Research Aims

PGD icon

Understanding how changes in expression of DNA repair genes from fertilisation to implantation affect human preimplantation embryo development. The interaction between mitochondrial and nuclear encoded genes associated with electron transport chain function and aneuploidy in embryos are also being investigated as possible causes of infertility. New technologies for the detection of genetic and chromosomal abnormalities in embryos are being validated for use in preimplantation genetic diagnosis.


Current projects

Validation of protocols for preimplantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) is the genetic testing of embryos created in vitro to avoid the transmission of inherited genetic disorders or chromosome abnormalities. Our research has included the use of new technologies to determine that accuracy of new platforms and to assess whether additional information gained from whole genome approaches can be used to refine embryo selection and improve delivery rates.

DNA repair gene expression in preimplantation embryos

Our group has been studying the expression of DNA repair genes and also miRNA that target these genes in preimplantation embryos with the aim of comparing expression with embryo morphology. In particular we have been investigating the parental origin of RNA transcripts of these genes to determine if mutations in the maternal or paternal copies of these genes have different detrimental effects on the development of the early embryo.

Interaction the nuclear and mitochondrial genome in preimplantation embryos

Mitochondrial function is important in embryonic development. The functional activity of mitochondrial is determined by maternally inherited mitochrondrial DNA encoded genes as well as nuclear genes that are inherited from both parents. We have been investigating the interaction of these genes in order to determine whether a mismatch between the mitochondrial and nuclear genome can lead to poor embryo development and result in infertility.

Further information