Name
Designations
Role
GMC number
My current role
I am an NHS consultant with general clinics at Peterborough and Addenbrooke's hospitals, and specialist adult and paediatric endocrine clinics and prenatal genetics clinics at Addenbrooke's hospital.
Until recently, I was the longest serving training programme director for clinical genetics trainees in our region, having been in the role for 15 years.
Past history
I completed my medical training at King's College Hospital in the University of London, qualifying in 1994.
My general medicine training, my PhD with Professor Krishna Chatterjee in endocrinology on the genetics of congenital hypothyroidism and clinical training in clinical genetics were all completed in Cambridge.
I was appointed as a consultant in 2007 at Addenbrooke's hospital. I have expertise in endocrine genetics and prenatal genetics.
Membership and accreditations
- Fellow of the Royal College of Physicians, London
- Member of the British Society of Genomic Medicine and Clinical Genetics Society
- Member of the European Society of Human Genetics
Personal interests
I enjoy spending time with my family, including my 3 lovely grown up children, and keeping fit with regular running, cycling, circuit training and resistance classes. I also enjoy cooking and baking, and pursuing gastronomic delights in the Spanish Basque country.
Publications
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Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences
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Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort
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Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders
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Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ