Dr Jenny Lord

Postdoctoral Fellow


This person is a member of Sanger Institute Alumni.

Postdoctoral research fellow in the PAGE project (Prenatal Assessment of Genomes and Exomes), which aims to find the causative genetic basis of fetal structural abnormalities detected by ultrasound. 

The main focus of my research is the PAGE project. The project aims to use whole exome and whole genome sequencing in families where structural abnormalities in the fetus have been detected by ultrasound during pregnancy. We will sequence the DNA of the fetus, along with their parents, in order to distinguish harmful variants from background variation. Identification of these will give the families a diagnosis, and help inform on recurrence risk for future pregnancies. It will also give a better understanding about the genes and processes involved in early human development, and the consequences of these being disrupted.

I am also working on data from the Deciphering Developmental Disorders study. This project is sequencing 12000 children with previously undiagnosed developmental disorders. I have been looking at variants which affect splicing, investigating the extent to which they contribute to developmental disorders.

I previously did research in to late onset Alzheimer’s disease – using next generation sequencing technologies to investigate the genetic architecture of the neurodegenerative disease.

My main research interests are in using next generation sequencing technologies to understand the genetic basis of human disease. 

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