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Karen is an award winning Consultant Clinical Geneticist who works part-time in the NHS predominantly seeing children with genetic conditions at the Bristol Royal Hospital for Children.


Karen qualified from the University of Bristol Medical School in 2006, achieved membership of the Royal College of Paediatrics in 2010 and achieved the Royal College of Pathology Specialty Exit Exam in Genetics in 2016.  She was awarded her entry on the specialist register for clinical genetics in 2017.


Karen specialises in paediatric neurodevelopmental disorders.  She is an international expert in several rare genetic disorders most notably including KBG Syndrome in which she has published multiple papers,  is a member of the scientific board of the KBG Foundation, authored the Unique patient information leaflet and organised the first ever UK KBG Family day in 2019. Karen is also an international expert in PUF60 related syndrome having published the two biggest cohort papers in this condition.


Karen has a keen interest in research in neurodevelopmental disorders which is demonstrated by her academic CV.  She now holds a prestigious NIHR doctoral research fellowship and as such is Chief Investigator for the GenROC study: a UK wide cohort study of children with rare genetic syndromes which is currently open to recruitment. She is also a lead investigator in the Life beyond childhood study in KBG Syndrome and is the clinical lead for the KBG arm of the BeONd study (a study of behaviour and mental health in children with genetic conditions).


Karen has won a number of awards for her research including the Robin Winter Prize from the UK Clinical Genetics Society.

Dr Karen Low

Consultant Clinical Geneticist

MBChB, BSc(Hons, MRCPCH, RCPath(SCEGenetics), PGcert(Healthcare ethics and law),
PGCert(Genomic Medicine)

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