Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant mortality in the UK, with a carrrrier frequency of 1 in 34 and an incident rate of approximately 1 in 4600 live births. SMA is caused by mutations in the survival motor neuron (SMN) gene. The SMN protein is a ubiquitously expressed RNA chaperone, playing a role in RNA transcription, splicing, translation and transport. Prior to joining Warwick my work focused on the normal physiological role of the SMN protein- particularly why motor neurones appear more sensitive to SMN levels than other cell types.
Since joining Warwick, in collaboration with Professor Felicity Boardman (Warwick Medical School) I have concentrated on gaining evidence to support the implementation of a UK SMA Screening Programme. Our efforts are focused on addressing criterion 12 of the National Screening Committee's guidelines for new screening tests- namely addressing whether there is support within the UK SMA community and general public for pre-conception, prenatal or newborn screening programmes. These studies have been expanded to include other genetic disorders, including haemophilia, thalassemia, cystic fibrosis and fragile x syndrome.
1993-1996. BSc (Hons) Clinical Sciences (Immunology) Kings' College, London
1996-2000. PhD Protein Biochemistry University of Wales
2000-2002. Post-Doctoral Research Fellow: Arizona State University
2002-2004. Post-Doctoral Research Fellow: University of Missouri-Columbia
2004-2010. Vandervell Lecturer in Human Function (Assistant Professor): Peninsula Medical School, University of Exeter
Fellow of the Royal Society of Biology
Senior Fellow of the Higher Education Academy
Royal Society of Biology Education and Science Policy Committee Member
- Boardman, Felicity K., Clark, Corinna C. A., Jungkurth, Elsita, Young, Philip J., 2020. Social and cultural influences on genetic screening programme acceptability : a mixed methods study of the views of adults, carriers and family members living with thalassemia in the UK. Journal of Genetic Counseling, 29 (6), pp. 1026-1040
- Boardman, Felicity K., Hale, Rachel, Young, Philip J., 2019. Newborn screening for haemophilia : the views of families and adults living with haemophilia in the UK. Haemophilia, 25 (2), pp. 276-282
- Boardman, Felicity K., Hale, Rachel, Gohel, Raksha, Young, Philip J., 2019. Prevention of lives affected by haemophilia : a mixed methods study of the views of adults with haemophilia and their families towards genetic screening. Molecular Genetics and Genomic Medicine, 7 (5)
- Boardman, Felicity K., Young, Philip J., Griffiths, Frances, 2018. Impairment experiences, identity and attitudes towards genetic screening : the views of people with Spinal Muscular Atrophy. Journal of Genetic Counseling, 27 (1), pp. 69-84
- Boardman, Felicity K., Sadler, Chloe, Young, Philip J., 2018. Newborn genetic screening for spinal muscular atrophy in the UK : the views of the general population. Molecular Genetics and Genomic Medicine, 6 (1), pp. 99-108
- Boardman, Felicity K., Young, Philip J., Griffiths, Frances, 2017. Newborn screening for spinal muscular atrophy : the views of affected families and adults. American Journal of Medical Genetics Part A, 173 (6), pp. 1546-1561
- Boardman, Felicity K., Young, Philip J., Griffiths, Frances, 2017. Population screening for spinal muscular atrophy : a mixed methods study of the views of affected families. American Journal of Medical Genetics (Part A), 173 (2), pp. 421-434
- Page, Ashley, Perry, David, Young, Philip J., Mitchell, Daniel Anthony, Frenguelli, Bruno G., Unwin, Patrick R., 2016. Fast nanoscale surface charge mapping with pulsed-potential scanning ion conductance microscopy. Analytical Chemistry, 88 (22), pp. 10854-10859
- Page, Ashley M., Perry, David, Young, Philip J., Mitchell, Daniel A., Frenguelli, Bruno G., Unwin, Patrick R., 2016. Fast nanoscale surface charge mapping with pulsed-potential scanning ion conductance microscopy. Analytical Chemistry, 88 (22), pp. 10854-10859
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Wishart, Thomas M., Mutsaers, Chantal A., Riessland, Markus, Reimer, Michell M., Hunter, Gillian, Hannam, Marie L., Eaton, Samantha L., Fuller, Heidi R., Roche, Sarah L., Somers, Eilidh, Morse, Robert, Young, Philip J., Lamont, Douglas J., Hammerschmidt, Matthias, Joshi, Anagha, Hohenstein, Peter, Morris, Glenn E., Parson, Simon H., Skehel, Paul A., Becker, Thomas et al (Select to open full list), 2014.
- Morse, Robert, Todd, Adrian G., Shaw, Debra J., McConville, Alison L., Robinson, Iain M., Young, Philip J., 2011. Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies. NeuroMolecular Medicine, 13 (1), pp. 77-87
- Todd, Adrian G., Morse, Robert, Shaw, Debra J., McGinley, Samuel, Stebbings, Howard, Young, Philip J., 2010. SMN, Gemin2 and Gemin3 associate with ß-actin mRNA in the cytoplasm of neuronal cells in vitro. Journal of Molecular Biology, 401 (5), pp. 681-689
- Todd, Adrian G., Morse, Robert, Shaw, Debra J., Stebbings, Howard, Young, Philip J., 2010. Analysis of SMN-neurite granules : core Cajal body components are absent from SMN-cytoplasmic complexes. Biochemical and Biophysical Research Communications, 397 (3), pp. 479-485
- Lorson, Monique A., Dickson, Alexa M., Shaw, Debra J., Todd, Adrian G., Young, Elizabeth C., Morse, Robert, Wolstencroft, Catherine, Lorson, Christian L., Young, Philip J., 2008. Identification and characterisation of a nuclear localisation signal in the SMN associated protein, Gemin4. Biochemical and Biophysical Research Communications, 375 (1), pp. 33-37
Title | Funder | Award start | Award end |
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Lab-on-a-Tip: Real-time nanoscale analysis of living cells - LT Research project Grant | Leverhulme Trust | 05 Jan 2017 | 04 Jan 2019 |