Dr Karen Low

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



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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 has received multiple comments through patient feedback reports of her empathy, excellent communication skills and patient and parent centred care.

In 2006, she successfully completed her studies at the University of Bristol Medical School.  She obtained membership of the Royal College of Paediatrics in 2010 and passed the Royal College of Pathology Specialty Exit Exam in Genetics in 2016.   Her entry on the specialist register for clinical genetics was granted in 2017.

Specialising 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.

She 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


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


Clinical Genetics


Clinical Guidance relating to Genomic/Genetic Results, Genomic Interpretations

Clinical Research Interests

Paediatric and syndromic genetics, KBG Syndrome, PUF60 syndrome (Verheij syndrome), HUWE1 syndrome, enriching phenotypic data in syndromes through novel methodologies – GenROC study

Year Qualified


GMC Number


Appointment NHS

Honorary Consultant Clinical Geneticist UHBW NHS trust

University Posts

NIHR Doctoral Research Fellow

Membership of National Professional Societies

British Society of Genomic Medicine, Clinical Genetics Society


Multiple Publications

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Email Address

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