CHD2 Professionals in the UK

Variants (mutations) in the CHD2 gene were first identified in 2012, during a period when advances in genetic sequencing were rapidly transforming our understanding of rare conditions. These developments led to the discovery of many rare genetic neurodevelopmental disorders.

Over the past 15 years, around 400–600 genes associated with rare epileptic encephalopathies have been identified, with CHD2-related neurodevelopmental disorder being one of them.

As a result, CHD2 is considered a relatively newly recognised and ultra-rare genetic condition. To date, just over 580 individuals have been diagnosed worldwide. In the UK, more than 60 individuals are known to our group, although the true number is likely to be higher.

Understanding NHS Care Pathways

For those families who have recently received a CHD2 diagnosis for their child or adult, it can be confusing at first to understand how care is structured within the NHS.

In the UK, medical care is generally organised into four levels:

Primary Care: this is your local GP practice. It is the first point of contact for initial concerns

Secondary Care: Local hospital services, such as general paediatrics, or consultant paediatricians with expertise in epilepsy. Referral usually occurs when more specialist assessment is needed.

Tertiary Care: Regional Specialist Centres/Regional Hospitals. These provide more advanced expertise, particularly for complex or difficult-to-control conditions

Quaternary Care: Highly specialised, nationally commissioned services. These centres provide expert second opinions and accept referrals from across the UK for rare and complex conditions

Examples of quaternary-level paediatric centres include:

  • Great Ormond Street Hospital (GOSH)
  • Evelina London Children’s Hospital
  • Birmingham Children’s Hospital
  • Bristol Royal Hospital for Children
  • Royal Manchester Children’s Hospital
  • Alder Hey Children’s Hospital

Adult Neurology: Adult services are not formally labelled as “quaternary” by the NHS. However, some centres do function at this level. For CHD2 adults specifically, your Consultant Neurologist may wish to seek advice from Dr Rhys Thomas at Newcastle upon Tyne Hospitals NHS Foundation Trust.

Specialist Support and Expertise

It is important to stress that even regional centres (Tertiary Care) may have limited experience with CHD2 related disorders due to its rarity. For this reason, collaboration between centres is very important.

We have gathered information from families across the UK about which hospitals they attend and which consultants are involved in their care

Below, you will find a list of neurologists, researchers, and geneticists who have experience with CHD2, and/or have a known interest in the condition. This is intended to help both families and healthcare professionals identify potential sources of expertise and advice. 

Key Contacts for CHD2 in the UK

For adult services:

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

  • Dr Rhys Thomas, Honorary Consultant Neurologist at Newcastle upon Tyne Hospitals has kindly agreed to act as a point of contact and provide advice on CHD2.
  • Dr David-Lewis Smith, Consultant Neurologist South Mead Hospital, North Bristol, runs developmental epileptic encephalopathy clinics for those aged 18+ and has CHD2 expertise. He takes NHS referrals. 
  • Dr Susan Byrne, Consultant Paediatric Neurologist, RCSI Dublin. 

For paediatric services:

While there is currently no single designated UK contact, families report that

  • Dr Amy McTague at Great Ormond Street Hospital has experience managing a number of children with CHD2

Paediatric Neurology Consultants

Below is a list of Paediatric Neurology Consultants who are known to have cared for individuals with CHD2. These include both Paediatric Consultants with an interest in epilepsy and Consultant Neurologists based at regional centres.

This is not intended to be a definitive list of recommendations, and the clinicians included are not necessarily CHD2 specialists. However, many have relevant experience and may provide a useful starting point for families seeking direction and support.

  • 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 Andrew Lux, Consultant Paediatric Neurologist, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust.
  • Dr Andrew Mallik, Consultant Paediatric Neurologist, Bristol Royal Hospital for Children
  • Dr Despoina Mandelenaki, Consultant Paediatric Neurologist, Evalina London Children’s Hospital
  • Dr Helen McCullagh, Consultant in Paediatric Neurology, Leeds General Infirmary
  • Dr Ailsa McLellan, Consultant Paediatric neurologist, Royal Hospital for Children and Young People, Edinburgh
  • Dr Amy McTague, Consultant Paediatric Neurologist Great Ormond Street Hospital
  • Dr Sithara Ramdas, Consultant Paediatric Neurologist, Oxford Children’s Hospital.
  • Dr Kamath Tallur, Paediatric Neruologist at Royal Hospital for Children and Young People, Edinburgh.
  • Dr Murugan Velayutham, Consultant Paediatric Neurologist, Birmingham Children’s Hospital NHS Foundation Trust.
  • Dr Katerina Vraka, Consultant Paediatric Neurologist, Manchester University NHS Foundation Trust.
  • Dr Lap Yeung Paediatric Consultant with special interest in epilepsy Royal Manchester Children’s Hospital
  • Professor Sameer Zuberi, Consultant Paediatric Neurologist, Royal Hospital for Children, Glasgow.

Adult Consultant Neurologists

  • Dr Geraint Fuller, Consultant Neurologist, Gloucester Royal Hospital.
  • Dr David-Lewis Smith, Consultant Neurologist South Mead Hospital, North Bristol (Adults). He runs developmental epileptic encephalopathy clinics for those 18+ and has CHD2 expertise. He takes referrals.
  • Dr Melissa Maguire, Consultant Neurologist and Honorary Clinical Associate Professor in Neurology at the University of Leeds. 
  • Dr Rajiv Mohanraj, Adult Consultant Neurologist at Salford Royal and Wythenshawe Hospitals. Also a consultant Neurologist at the Manchester Centre for Clinical neurosciences.
  • Dr Michael O’Donoghue, Neurology Consultant, Queens Medical Centre, Nottingham.
  • Dr Shanika Samarasekera Consultant Neurologist at Queen Elizabeth Hospital Birmingham (recommended by Rhys Thomas)
  • Dr Rhys Thomas, Honorary Consultant Neurologist, Newcastle upon Tyne Hospitals. Medical Advisor and Group point of contact for our families.
  • Prof Matthew Walker, University College London Hospitals.

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.

When to Seek Further Support

If your local team is struggling to treat your child or adult with CHD2 it is important that you share this list of specialists with your paediatrician or neurologist. Ask them to seek advice from colleagues at other centres or alternatively, request a referral to a tertiary or quaternary centre.

Early access to specialist input can make a significant difference in managing complex and rare conditions like CHD2.