Dr Jenny Lord | Postdoctoral Fellow

Lord, Jenny

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.

Publications

  • Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

    Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M et al.

    Nature genetics 2015;47;11;1363-9

  • Identification of rare variants in Alzheimer's disease.

    Lord J, Lu AJ and Cruchaga C

    Frontiers in genetics 2014;5;369

  • The epigenetic landscape of Alzheimer's disease.

    Lord J and Cruchaga C

    Nature neuroscience 2014;17;9;1138-40

  • Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions.

    Lord J, Turton J, Medway C, Shi H, Brown K et al.

    International journal of molecular epidemiology and genetics 2012;3;4;262-75

  • Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

    Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y et al.

    Nature 2014;505;7484;550-554

  • Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

    Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M et al.

    Nature genetics 2015;47;11;1363-9

  • Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.

    Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK et al.

    Neurobiology of aging 2014;35;12;2881.e1-6

  • Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.

    Sassi C, Guerreiro R, Gibbs R, Ding J, Lupton MK et al.

    Neurobiology of aging 2014;35;10;2422.e13-6

  • The epigenetic landscape of Alzheimer's disease.

    Lord J and Cruchaga C

    Nature neuroscience 2014;17;9;1138-40

  • Missense variant in TREML2 protects against Alzheimer's disease.

    Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J et al.

    Neurobiology of aging 2014;35;6;1510.e19-26

  • Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.

    Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y et al.

    Nature 2014;505;7484;550-554

  • Identification of rare variants in Alzheimer's disease.

    Lord J, Lu AJ and Cruchaga C

    Frontiers in genetics 2014;5;369

  • Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions.

    Lord J, Turton J, Medway C, Shi H, Brown K et al.

    International journal of molecular epidemiology and genetics 2012;3;4;262-75

Lord, Jenny
Jenny's Timeline
2015

Postdoc - Wellcome Trust Sanger Institute - PAGE project

2014

Postdoc - Washington University in St Louis - Genetics of late onset Alzheimer's disease

2010

PhD - The University of Nottingham - Genetics of late onset Alzheimer's disease

2009

MSc - The University of Nottingham - Molecular Diagnostics

2007

Junior Scientific Officer - OncImmune Ltd. - Early cancer detection test development

2004

BSc - The University of Nottingham - Human Genetics