Email: d.t.bonthron@leeds.ac.uk

Research profile and key clinical specialties

I am the Centenary Professor of Molecular Medicine at the University of Leeds. I am an academic medical geneticist and honorary consultant in clinical genetics at the Leeds Teaching Hospitals.

In addition, I am active in implementing new sequencing and genome analytical laboratory methodologies into diagnostic use.

I direct the MRC Single-Cell Genomics Centre at St James’s Hospital and I am a Senior Editor of the Journal of Pathology.

My areas of research interest are:

• rare inherited disorders and genetic models;
• application of genomic technologies to diagnostics;
• genomic imprinting;
• bioinformatics;
• genetic and acquired disorders of fructose metabolism.

Two key publications

• Hollstein R., Parry D.A., Nalbach L., Logan C.V., Strom T.M., Hartill V.L., Carr I.M., Korenke G.C., Uppal S., Ahmed M., Wieland T., Markham A.F., Bennett C.P., Gillessen-Kaesbach G., Sheridan E.G., Kaiser F.J., Bonthron D.T. HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J Med Genet 52:797–803 (2015).
• Watson C.M., Crinnion L.A., Murphy H., Newbould M., Harrison S.M., Lascelles C., Antanaviciute A., Carr I.M., Sheridan E., Bonthron D.T., Smith A. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. J Med Genet 53:264–9 (2016).

Possible PhD projects

• An investigation of the role of theKHDC3L (C6orf221) gene product in regulating genomic imprinting in the female germline.

More information

Currently co-supervisor to six University of Leeds PhD students.

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Keywords: MyoD, molecular medicine, sequencing, genome, analytical, rare inherited disorders, Single-Cell, genomics, fructose, bioinformatics; neurodevelopmental, myogenic, David, Bonthron, Leeds

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