Academic Clinical Lecturer in Paediatric Neurology
|2003-2013||Medical School, University of Cambridge|
|2007-2011||PhD Epigenetics and Development, University of Cambridge|
|2015-2018||Academic Clinical Fellow, East of England|
|2018-current||Academic Clinical Lecturer in Paediatric Neurology, University of Cambridge|
I am interested in the genetic and epigenetic factors which control how babies and children develop, and the interactions between them. I study these factors both in the context of normal development, and when this developmental trajectory has changed – resulting in a developmental disorder. I hope that by understanding these mechanisms better we may be able to develop new treatments for these conditions.
Genes act as a code which is ‘read’ to make proteins, the building blocks of cells. Currently, we do not properly understand our genetic code. We all carry genetic changes, but most do not cause problems. In a genetic condition, a change in this code changes the function of a protein, altering a child’s development. We check a person’s genetic code when we suspect a genetic condition. Unfortunately, we cannot always predict which genetic changes, or variants, will alter a protein’s function. Therefore, it can be difficult to decide whether a child’s difficulties are due to the genetic changes observed. This often makes diagnosis difficult. This is particularly true in young children or unborn babies, as their difficulties may not yet be fully known. However, diagnosing children when they are young can improve treatment and reduce the disability caused by a genetic condition.
Currently, I am using a variety of approaches to improve the interpretation of genetic variants in neurodevelopmental disorder associated genes, and to translate these data into greater clinical diagnostic certainty. My doctoral research focussed on epigenetic plasticity in the context of normal development and developmental programming across generations.
Transforming diagnostic confidence in neurodevelopmental disorders using CRISPR-based saturation genome editing
Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era? Andrews K, Prapa M, Radford E et al. Arch Dis Child. 2019 Sep 28. PMID: 31563874
Martin HC et al. Quantifying the contribution of recessive coding variation to developmental disorders. Science 2018 Dec 7. PMID: 30409806
Niemi M et al. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders. Nature 2018 Oct. PMID:28778976
Erikssen et al. Influence of intergenerational in utero parental energy and nutrient restriction on offspring growth in rural Gambia. FASEB Journal 2017 Aug 4 PMID: 28778976
Radford EJ, et al. In utero undernourishment perturbs the adult sperm methylome, and is linked to metabolic disease transmission. PMID: 25011554 Science 2014 Aug 15;345(6198)
Radford EJ, et. al.An unbiased assessment of the role of imprinted genes in an intergenerational model of developmental programming. PMID: 22511876 PLoS Genetics 2012;8(4):e1002605.
Ferron SR, et. al. Postnatal loss of Dlk1 imprinting in stem cells and niche astrocytes regulates neurogenesis. PMID: 21776083 Nature 2011 Jul 20;475(7356):381-5.
Radford EJ and Firth HV, The Genetics of Developmental Disorders. Paediatrics and Child Health 2019 Oct 29.