Dr Jenny Lord
BSc, MSc, PhD
School of Medicine and Population Health
Lecturer in Systems Biology
Full contact details
School of Medicine and Population Health
Room B27
Sheffield Institute for Translational Neuroscience (SITraN)
385a Glossop Road
Sheffield
S10 2HQ
- Profile
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During my PhD and first postdoctoral position I investigated the genetic basis of Alzheimer’s disease using next generation sequencing. I then moved to the Wellcome Sanger Institute, where my research focus was on rare disorders. I led analysis on two projects, investigating the genetic basis of prenatal structural anomalies (Prenatal Assessment of Genomes and Exomes, PAGE) and the prevalence and nature of splicing variants in the Deciphering Developmental Disorders (DDD) cohort. I then moved to The University of Southampton where I focussed on using genome sequencing and RNA-Seq to better understand the splicing process and its disruption in rare disorders.
In 2022 I moved to the ±¬ÁĎTV to start my own research group, using computational genetics approaches to investigate the genetic basis of human disorders, with a focus on splicing and non-coding mechanisms of disease.
Career timeline
2022 – Present: Lecturer in Systems Biology, ±¬ÁĎTV
2018 – 2022: Senior postdoctoral research fellow, Diana Baralle and Sarah Ennis’ Labs, University of Southampton
2015 – 2018: Postdoctoral research Fellow, Matt Hurles’ Lab, Wellcome Sanger Institute
2014 – 2015: Postdoctoral research associate, Carlos Cruchaga’s Lab, Washington University in St Louis
- Qualifications
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PhD Clinical Chemistry, University of Nottingham
MSc Molecular Diagnostics, University of Nottingham
BSc Human Genetics, University of Nottingham
- Research interests
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I am fascinated by the way the human genome works, and how disruptions to its normal function lead to disease. We are working at a time where generating huge quantities of data is relatively quick and cheap, but making sense of that data is a major challenge. My group uses large datasets (e.g. genome and transcriptome sequencing) to try to better understand how the genome functions in health and disease.
Splicing (removal of introns and joining together of exons in pre-mRNA processing) has been a long standing interest of mine. It is an exceedingly complex process with tight regulation required to make sure our genes are expressed in the right way, at the right place and time. It relies on the interactions of many different factors, and disruption of any of these can interfere with splicing and lead to disease. We aim to use large, mostly publicly available datasets, to get a better understanding of the splicing process, and understand the ways in which its disruption causes neurodevelopmental and neurodegenerative disorders.
The non-protein coding genome was once referred to as “junk DNA”. We now see that it holds many important functions that we are only just beginning to understand. As well as controlling the way protein coding genes are regulated, there are also many non-protein coding genes which themselves fulfil many crucial roles. We aim to use computational approaches and large datasets to improve understanding of how non-protein coding regions of the genome function, and how disruption to those functions leads to disease.
- Publications
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Show: Featured publications All publications
Featured publications
Journal articles
- . The American Journal of Human Genetics, 113(1), 221-233.
- . European Journal of Human Genetics, 33, 793-802.
- . Human Genetics, 144(2-3), 243-251.
- . Genetics in Medicine, 26(12).
- . Nature, 632, 832-840.
- . The American Journal of Human Genetics, 111(6), 1140-1164.
- . Genome Medicine, 14(1).
- . Genome Medicine, 14(1).
- . Journal of Medical Genetics, 59, 1151-1164.
- . PLOS ONE, 17(6).
- . Journal of Medical Genetics, 59(8), 737-747.
- . Genetics in Medicine, 22(6), 1005-1014.
- . Nature Genetics, 51(3), 414-430.
- . The Lancet, 393(10173), 747-757.
- . Genome Research, 29(2), 159-170.
- . Genome Medicine, 17(1).
- . Frontiers in Genetics, 12.
All publications
Journal articles
- . The American Journal of Human Genetics, 113(1), 221-233.
- . Science Advances, 11(30).
- . Brain, 148(4), 1194-1211.
- . European Journal of Human Genetics, 33, 793-802.
- . Human Genetics, 144(2-3), 243-251.
- . Genome Medicine, 16.
- . Genetics in Medicine, 26(12).
- . Nature, 632, 832-840.
- . The American Journal of Human Genetics, 111(6), 1140-1164.
- . Metabolism, 151, 155759-155759.
- . Frontiers in Immunology, 13.
- . Frontiers in Genetics, 13.
- . Genome Medicine, 14(1).
- . Genome Medicine, 14(1).
- . Journal of Medical Genetics, 59, 1151-1164.
- . PLOS ONE, 17(6).
- . Frontiers in Immunology, 13.
- . Prenatal Diagnosis, 42(6), 736-743.
- . Journal of Medical Genetics, 59(8), 737-747.
- . Ultrasound in Obstetrics & Gynecology, 58(4), 509-518.
- . BMC Medical Genomics, 14(1).
- . The Journal of Thoracic and Cardiovascular Surgery, 162(2), e355-e372.
- . Genetics in Medicine, 23(7), 1376-1377.
- . Genetics in Medicine, 23(7), 1315-1324.
- . Human Genetics, 140(4), 593-607.
- . Nature, 586(7831), 757-762.
- . Genetics in Medicine, 22(6), 1005-1014.
- . Genet Med, 22(6), 1129.
- . Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 1862(11-12), 194433-194433.
- . Nature Genetics, 51(9), 1423-1424.
- . Obstetrical & Gynecological Survey, 74(7), 394-396.
- . Nature Genetics, 51(3), 414-430.
- . The Lancet, 393(10173), 747-757.
- . Genome Research, 29(2), 159-170.
- . Genetics in Medicine, 21(5), 1065-1073.
- . Neurobiology of Aging, 66, 179.e17-179.e29.
- . Genetics in Medicine, 20(10), 1216-1223.
- . Nature Genetics, 49(9), 1373-1384.
- . Neurobiology of Aging, 46, 235.e1-235.e9.
- . Neurobiology of Aging, 37, 208.e1-208.e9.
- . Nature Genetics, 47(11), 1363-1369.
- . Nature Neuroscience, 17(9), 1138-1140.
- . Neurobiology of Aging, 35(12), 2881.e1-2881.e6.
- . Neurobiology of Aging, 35(10), 2422.e13-2422.e16.
- . Neurobiology of Aging, 35(6), 1510.e19-1510.e26.
- . Nature, 505(7484), 550-554.
- Next generation sequencing of CLU, PICALM and CR1: pitfalls and potential solutions.. Int J Mol Epidemiol Genet, 3(4), 262-275.
- . Genome Medicine, 17(1).
- . Scientific Reports, 11(1).
- . Frontiers in Genetics, 12.
- . PLOS ONE, 12(10), e0185777-e0185777.
- . PLOS ONE, 11(6), e0150079-e0150079.
- . Scientific Reports, 6(1).
- . Frontiers in Genetics, 5.
Conference proceedings
- A palindrome associated duplication-triplication of 16p13.3 causes cerebellar atrophy and progressive ataxia. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 33 (pp 862-863)
- Proteomics to identify disease-associated variants in rare disease patients undiagnosed after whole-genome sequencing: a proof-of-concept study in the 100,000 Genomes Project (Award Candidate). EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 33 (pp 63-63)
- De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 32 (pp 854-854)
- Analysis of RNAseq from over 5000 individuals in the 100,000 Genomes Project identifies new potential diagnoses for patients with rare disease. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 32 (pp 847-847)
- RNA-seq identifies diagnostically relevant splicing abnormalities in patients without candidate variants. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 32 (pp 616-617)
- Analysis of RNAseq from 4400 individuals in the 100,000 Genomes Project identifies new potential diagnoses. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 32 (pp 3-4)
- Assessment of variants of unknown significance using RNA sequencing to improve diagnostic yield. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 32 (pp 634-634)
- Recommendations for clinical interpretation of variants in non-coding regions of the genome. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 31 (pp 284-285)
- Blood RNA-seq in diagnostic genomic medicine. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 31 (pp 580-580)
- A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 31 (pp 58-58)
- . Paediatric respiratory epidemiology (pp 3503-3503)
- Exome sequencing of 406 parental/fetal trios with structural abnormalities revealed by ultrasound in the UK Prenatal Assessment of Genomes and Exomes (PAGE) project. EUROPEAN JOURNAL OF HUMAN GENETICS, Vol. 26 (pp 82-82)
Preprints
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- Teaching activities
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I am the program lead for the MSc in Translational Neuroscience, and lead several modules across this course and the MSc in Advanced Cell and Gene Therapies.