Institute of Genetic Medicine

Staff Profile

Dr Sarah Rice

Research Associate

Background

I am a Versus Arthritis-funded Research Associate in the lab of Professor John Loughlin within the Skeletal Research Group. We are based at the International Centre for Life, and our group focuses on osteoarthritis (OA) susceptibility loci, identified primarily through genome-wide association studies (GWAS). Using a range of molecular biology techniques, including CRISPR-Cas9, dCas9, RT-PCR, pyrosequencing, luciferase reporter assays, and siRNA knockdown, I investigate the functional effect of polymorphisms on proximal gene expression. This project has involved the study of DNA methylation (DNAm) levels in various tissues of the articulating joints in late-stage OA patients, and the investigation of how a methylation quantitative trait locus (mQTL) can influence gene expression (eQTL). I am particularly interested in these effects in OA upon the gene RUNX2, the transcription factor responsible for skeletogenesis. Now, in collaboration with the MRC-Wellcome funded Human Developmental Biology Resource (HDBR) we are investigating the impact of DNAm in development, upon the integrity of cartilage in ageing.

 

I completed my MPharm degree at the University of Manchester in 2009, and successfully gained my professional registration with the GPhC. Following on from this, my interest in pharmacogenetics brought me to Newcastle University, where I completed a PhD project investigating the effect of rare missense mutations upon the structure and function of renal transport proteins.

 

For updates on current work in our laboratory and the Skeletal Research Group: @grainofscience @IGM_Skeletal

Research

Research Interests

Aberrant epigenetic gene regulation in osteoarthritis.

Epigenetic prioritisation of OA risk loci

The function of OA-associated mQTLs in developmental limb tissues

Current Work

dCas9 epigenome editing in chondrocyte cell lines, primary cells, and MSCs. 

Gene regulation by OA-associated methylation quantitative trait loci (mQTLs)

Functional analysis of GWAS loci using a range of molecular genetics techniques.

Esteem Indicators

OARSI Young Investigator Award for highest rated abstract. Identification of novel methylation quantitative trait loci (mQTLs) and functional characterisation using CRISPR-Cas9 and gene expression analysis prioritizes PLEC as an OA risk gene. OARSI world congress, Liverpool, April 2018.

Invited workshop presentation. In vitro CRISPR-Cas9 genome and epigenome editing in OA. 2nd International Workshop on the Epigenetics of Osteoarthritis. Trinity College, Dublin, Ireland. November 6th, 2018.

Bone and Joint Research Specialty Editor (from April 2019)

Reviewer for Arthritis Research and Therapy, Applied Biochemistry and Biotechnology, and The Dunhill Medical Trust.

Chair of the Gordon Research Seminar "Cartilage Biology and Pathology" 2021, Tuscany, Italy. 

Current Grants: Co-Investigator (John Loughlin Principle Investigator):

Pump Priming Grant. Molecular genetic and epigenetic analysis of the chromosome 4p16.3 osteoarthritis risk locus. (June 2019-June 2020; Source: JGW Patterson Foundation; Amount: £48,722).

MRes/PhD Studentship Grant. Epigenetic, genetic and functional analysis of the growth differentiation factor 5 gene GDF5 in developmental dysplasia of the hip and in osteoarthritis; from development of the musculoskeletal system through to ageing. (September 2018-August 2022; Source: CIMA; Amount: £120,000).  


Public Engagement


Gene Editing: The Good, The Bad, and The Ugly. Genetics Matters, International Centre for Life, Newcastle upon Tyne. 23rd February 2019 (Invited oral communication).

Teaching

Laboratory Supervision

Miss Yulia Kehayova (CIMA MRes/PhD Student)

Miss Laura Sharp (CIMA Biobank and Research Technician)

Publications