Williams, Ruth E

Consultant children's neurologist

Area of expertise: epilepsy, Batten disease and ketogenic diet.

Biography

Dr Ruth Williams graduated from the University of Nottingham Medical School in 1985 and has been working in children's healthcare more or less ever since.

After working as a junior children's doctor (paediatrician) in Birmingham, London and Bath, Ruth joined Professor Mark Gardiner’s team at University College London in 1991. She spent the next five years studying the molecular genetics of Batten disease (an inherited disorder of the nervous system that usually starts in childhood), with the aim of identifying the genes responsible for the classic and variant types of late infantile Batten disease.

In 1996, Ruth returned to clinical work as a senior registrar in paediatric neurology at Great Ormond Street Hospital, where she completed her post-graduate training in paediatric neurology.

Ruth now works part-time at Evelina London Children’s Hospital where she is a consultant in children's neurology with particular interests in epilepsy and Batten disease. She also leads the ketogenic diet service for children with epilepsy, used to help difficult-to-control epilepsy.

Further information

International Congress host

Co-hosted (with Prof Jon Cooper and Dr Sara Mole) NCL-2012 Scientific Congress, Royal Holloway March 2012. >300 international delegates attended including families, and allied health care professionals for parallel conference training meetings.

Book editor

The Neuronal Ceroid Lipofuscinoses (Batten Disease) second edition. Ed. Sara E Mole, Ruth E Williams and Hans H Goebel. Published 2011. Oxford University Press.

Book chapters

‘Ceroid Lipofuscinoses’ Jonathan D Cooper and Ruth E Williams in ‘Lysosomal Storage Diseases: A practical guide’ Ed Atul Mehta and Bryan Winchester. 2012

‘Treatment options in the paediatric epilepsu clinic’ in ‘Dietary treatment of Epilepsy’ Ed. Elizabeth Neal. Wiley-Blackwell, 2012

Recent peer reviewed publications

‘New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Ruth E Williams and Sara E Mole. Neurology 2012. 79:183-191

Aiello C, Terracciano A, Simonati A et al. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinoses. Human Muation 2009 30:E530-40

J H Cross, A Mclellan, E G Neal, S Philip, E Williams, R E Williams. The ketogenic diet in childhood epilepsy: where are we now? Arch Dis Child doi:10.1136/adc.2009.159848