Contact information
Research groups
Katherine Wood
PhD
Postdoctoral Researcher
I am a postdoctoral research assistant in molecular genetics in the Goriely group. I joined the lab in 2021. My research is centered on the selfish selection of de novo mutations in the male germline. This work addresses a fundamental question in human genetics: how, why and how often do mutations arise in our genome and contribute to disease?
I am currently a Junior Research Fellow in Medical Sciences at the Oxford Centre for Personalised Medicine and St Anne's College. I am also a Retained Lecturer in Biochemistry at Pembroke College.
I graduated from the University of Oxford in 2013 with an MBiochem in Molecular and Cellular Biochemistry. I then studied for a PhD in Genetic Medicine at the University of Manchester between 2017 and 2021, under the supervision of Professor William Newman and Professor Raymond O’Keefe. My project focused on the investigation of craniofacial developmental disorders caused by variants in genes encoding core components of the spliceosome, a large macromolecular machine required for the processing of all eukaryotic pre-messenger RNAs.
I am particularly interested in translational (or “bench to bedside”) research.
Recent publications
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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Journal article
Bernkopf M. et al, (2023), Nat Commun, 14
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The impact of paternal age on new mutations and disease in the next generation
Journal article
Wood KA. and Goriely A., (2022), Fertility and Sterility
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Bi-allelic FRA10AC1 variants in a multisystem human syndrome.
Journal article
Banka S. et al, (2022), Brain
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Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Journal article
Wood KA. et al, (2021), Clin Genet
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Individualised decision-making: interpretation of risk for extremely preterm infants, a survey of UK neonatal professionals
Journal article
Wood K. et al, (2021), Archives of Disease in Childhood
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Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy
Journal article
Wood K. et al, (2021), Cardiogenetics
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The Role of the U5 snRNP in Genetic Disorders and Cancer
Journal article
Wood KA. et al, (2021), Frontiers in Genetics, 12, 20 - 20
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The Role of the U5 snRNP in Genetic Disorders and Cancer.
Journal article
Wood KA. et al, (2021), Front Genet, 12
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Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Journal article
Harkness JR. et al, (2020), Kidney Int Rep, 5, 1823 - 1827
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EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.
Journal article
Thomas HB. et al, (2020), Hum Mutat, 41, 1372 - 1382