CHD2 Professionals in the UK

Variants and mutations in the CHD2 gene were first recognised in 2012. Around that time, a number of rare genetic neurodevelopmental disorders were starting to be discovered thanks to advances in genetic sequencing. There are now more than 65 of these rare disorders known, with CHD2-related neurodevelopmental disorders being one.

This is therefore a relatively new, ultra-rare genetic condition with only around 300 individuals diagnosed worldwide (so far). We know for certain that there are at least 40 individuals in the UK diagnosed with the disorder, though we suspect that there may well be more.

Unfortunately, it is difficult to establish exactly how many people have been diagnosed in the UK as there does not seem to be a definitive centralised database recording those individuals. From discussions within our own CHD2 group, it appears that there may also be a lack of information amongst local neurologists as to which specialists have an interest in the condition.

For adult patients (and their local neurologists) seeking more specialised information, Dr Rhys Thomas has kindly agreed to be a point of focus in the UK. We are currently seeking a paediatric neurologist willing to carry out the same role.

Due to the existing situation where local neurologists have often never seen more than one CHD2 patient, we list below a number of consultant neurologists, researchers and geneticists in the UK that have an interest in the condition or that we know have encountered CHD2 patients previously. We hope that this will help inform both families and medical professionals about possibilities for seeking further information or more specialised knowledge.

Specialists in CHD2

There are a number of medical professionals in the UK and Ireland who have an interest or specialisation in CHD2 epilepsies. These include:

  • Dr Rhys Thomas, Honorary Consultant Neurologist, Newcastle upon Tyne Hospitals (Adults).
  • Dr David-Lewis Smith, Associate Clinical Lecturer and specialist registrar in Neurology at Newcastle University.
  • Dr Susan Byrne, Consultant Paediatric Neurologist, RCSI Dublin.


Paediatric Neurologists

Neurology consultants known to have CHD2 patients can be found below. These are not necessarily specialists in CHD2 but they are known to have patients under their care.

  • Professor Sameer Zuberi, Consultant Paediatric Neurologist, Royal Hospital for Children, Glasgow.
  • Dr Amy McTague, Clinical Consultant – Principal Research Fellow, University College London.
  • Dr Andrew Lux, Consultant Paediatric Neurologist, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust.
  • Dr Sam Amin, Consultant Paediatric Neurologist, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust.
  • Dr Eve Bassett, Epilepsy and Neurology Lead, Royal United Hospitals, Bath.
  • Dr Sarah Hughes, Consultant Paediatric Neurologist, Torbay and South Devon NHS Foundation Trust
  • Dr Shah, Neurologist, Belfast.
  • Dr Sithara Ramdas, Consultant Paediatric Neurologist, Oxford Children’s Hospital.
  • Dr Katerina Vraka, Consultant Paediatric Neurologist, Manchester University NHS Foundation Trust.
  • Dr Murugan Velayutham, Consultant Paediatric Neurologist, Birmingham Children’s Hospital.


Adult Neurologists


Geneticists

  • Dr Usha Kini, Associate Professor of Genomic Medicine. Radcliffe Department of Medicine, University of Oxford.  
  • Dr Vivienne McConnell, Consultant in Genetic Medicine at Health & Social Care Trust, Belfast.
  • Dr Charulata Deshpande, Consultant Clinical Geneticist, St Mary’s Hospital, Royal Manchester Children’s Hospital.
  • Dr Suresh Somarathi, Consultant Clinical Geneticist, Clinical Genetics Department, Birmingham Women’s Hospital.


Other UK Specialists

  • Professor Paramala Santosh, Professor of Developmental Neuropsychiatry and Psychopharmacology, King’s College London. He leads the Centre for Interventional Paediatric Psychopharmacology Research Team (CIPPRT). Paediatrics.
  • Dr Megan Eve, Paediatric Clinical Neuropsychologist, Bristol.

International Researchers and Academics

  • Dr Heather Mefford, Physician Scientist and Member in the Center for Pediatric Neurological Disease Research at St. Jude Children’s Research Hospital. Memphis.
  • Dr Gemma Carvill, Assistant Professor in the Department of Neurology at Northwestern University Feinberg School of Medicine in Chicago.
  • Christy W. LaFlamme Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children’s Research Hospital, Memphis
  • Dr Renzo Guerrini Meyer Hospital, Italy