Lead Consultant

Dr Glenda J Sobey is co-founder and head of the UK Ehlers-Danlos Syndrome National Diagnostic Service in Sheffield and Honorary Senior lecturer at the University of Sheffield. The service is based at Sheffield Childrens’ Hospital but does see patients of all ages. 

Dr Sobey is a Consultant Dermatologist with qualification in Clinical Genetics. Her unit is responsible for the diagnosis of rare and atypical EDS. This includes specialist clinical evaluation, skin biopsy with electron microscopy (where needed) and molecular genetic testing for all known EDS genes in the Sheffield laboratory. This service acts as a full clinical genetics service including genetic counselling. In addition her team advises on and coordinates management of this group of patients. Since 2011, together with cardiology colleagues, she established and runs a specialist vascular EDS cardiology clinic.

Dr Sobey has an active role in teaching and lectures nationally and internationally. She has published widely.  She is particularly interested in promoting early diagnosis in rare diseases to allow optimal outcome for patients and families.

Consultant Clinical Geneticist

Dr. Diana Johnson, Consultant Clinical Geneticist, is a consultant in the EDS National Diagnostic Service in Sheffield. 

In addition to her expertise in the evaluation of patients with rare and complex types of EDS, Dr. Johnson also has a specialist interest in the skeletal dysplasias and dysmorphology, which further complements her role.

Consultant Clinical Geneticist

Dr Neeti Ghali, MBChB, MD is a Consultant in Clinical Genetics and has been working in the National EDS National Service in London since 2011. She has seen many patients with rare heritable connective tissue disorders including different EDS types and has looked after a large number of individuals with vascular EDS over the years.

Dr Ghali initiated the set-up of the joint vEDS clinics with Cardiology experts at both Great Ormond Street Hospital and St Bartholemew's Hospital in 2016. Patients with types of EDS that affect the cardiovascular system are offered regular screening and medical appointments through these clinics.  

Dr Ghali has been a member of the Medical Advisory Committee for Annabelle’s Challenge for a number of years and has presented at various patient conferences over the years, for example, vascular EDS Conferences in Bury and the Marfan Foundation conference in London in 2024. She also ran the Royal Parks Half Marathon in 2024 raising money for Annabelle’s Challenge. She has a strong research interest and has published over 50 papers, many related to vascular EDS. 

In 2024, Dr Ghali qualified as a Lifestyle Medicine physician and is applying her knowledge of the six pillars of lifestyle medicine to her patients in the EDS service. 

Genetic Counsellor

Jessica Bowen is a genetic counsellor based at the EDS diagnostic clinic at NHS Sheffield Hospital. Jessica provides essential counselling to give people information about genetic conditions and how they are inherited, and they work very closely with clinical geneticists.

Jessica’s role is to help a family to understand better the implications of a diagnosis of a genetic condition in a family. This includes helping the family to understand who else in the family might be at risk and how the condition is inherited.

Jessica provides support to our charity with the education of vascular EDS ensuring the content and information we provide is accurate and relevant.

Genetic Counsellor

Claire Green is a registered genetic counsellor working in the EDS National Diagnostic Service in Sheffield. Claire specialises in working with individuals and families with the rare types of EDS. 

She has extensive experience in this area as the EDS service sees substantial numbers of patients with classical EDS and vascular EDS as well as patients with all of the very rare types of EDS. 

In addition, the unit in Sheffield has a specialist combined clinic with the inherited cardiac conditions cardiology team for the ongoing management of patients with vascular EDS and the very rare types of EDS with associated vascular risk. Claire is an integral part of this team attending the clinic appointments of her patients.

She undertakes both undergraduate and postgraduate teaching at the University of Sheffield medical school and has presented the team’s work at national and international meetings. 

Claire is also a GCRB registration mentor and supervises MSc students in genetic counselling. Claire has an active research interest in developing interventions to facilitate family communication in vascular EDS and works closely with patient organisations.