![Dr Sarju Mehta - he wears glasses and a blue top](https://buckup-cuh-production.s3.amazonaws.com/images/Sarj_Mehta.2e16d0ba.fill-480x480.jpg)
Name
Designations
Role
GMC number
My current role
I am an NHS consultant with general clinics at Norfolk and Norwich University Hospital, and specialist prenatal clinics and cardiac genetics clinics at Addenbrooke's hospital.
I have an interest in using technology within healthcare, and teaching on genetics and -professionalism.
Previous history
Before joining CUH in 2006, I did my clinical genetics training in Manchester and spent some time as a research fellow at Boston children's hospital. I have also worked as a staff specialist in clinical genetics in Brisbane in 2018 and was awarded a Topol Digital Fellowship in 2021 - 2022.
Membership and accreditations
I am a member of the British Society of Genetic Medicine, European Society of Human Genetics, and Human Genetics Society of Australasia.
I am a fellow of the Royal College of Physicians and Royal Australasian College of Physicians.
Personal interests
When I am not at work I enjoy travelling, running, eating in new restaurants, playing the piano and spending time with my family.
Publications
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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1
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SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis
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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum