Sheffield Childrens NHS Foundation Trust
Inside Laboratory Genetics


Welcome to the Centre of Excellence for Sheffield Children's NHS Foundation Trust. Many of our services are among the best in the country and we pride ourselves on providing a comprehensive and professional service for our patients and families.

Our services

The Centre of Excellence features just a few of the services offered by Sheffield Children's NHS Foundation Trust. Read more about all our departments and services in the A-Z of Services.

Centre of Excellence


Welcome to the Centre of Excellence at Sheffield Children's NHS Foundation Trust where we strive to bring our patients the best care.

Some of our departments and clinicians are UK leaders forging the way in paediatric care, in research and in results and several of our UK-wide and international centres are featured here in the Centre of Excellence.

Our Centre of Excellence includes:

In this area you can read more about what makes these departments and services 'excellent', see who our clinicians are and find out how to refer to us.

Expert care


Our Trust has around 2,500 clinicians and staff working across six main sites and also in community settings such as schools, health centres and in families' homes.

We have a wide breadth of experience in many fields and specialise predominently in the health care of children.


All clinicians and colleagues working for our Trust have a clear set of visions and values which uphold providing the best possible care for every patient and striving to support all the families who use our services.


Within the Centres of Excellence there are many key clinicians widely known for their work, often research based, nationally and internationally.

Many of them contribute regularly to national journals, guidelines and committees working to improve the consistency and quality of care for every child.


Our clinicians are often responsible for the training of the next generation of paediatricians and help to raise the profile of conditions, treatments and support groups locally and internationally by lecturing at conferences and talks. 

Here you can find out more about some of the clinicians who give Sheffield an outstanding reputation for care and innovation.

Our 'excellence'

UK-wide and international significance

The departments in the Centre of Excellence are recognised at a national level. They see patients from across the UK and beyond and receive referrals from across the country and other countries.

Multidisciplinary team

Our teams bring together a wide variety of clinicians in a multidisciplinary approach to each patient which helps to improve their care and make sure it is influenced by all the appropriate specialists.

Research is key

Research in these areas is a key factor to their success and is helping to push innovation in each individual field.

We regularly work with universities and other research sites to carry out these projects.



Our Research Department is striving to bring the best in paediatric research to the UK, conducting innovative trials and techniques and ensuring the results are used to improve care for patients.

Find out more

Visit our comprehensive Research area to meet our researchers and read about some of our local, national and international studies.

Contact us


To find out how to get a referral to our services please visit the Refer to Us A-Z.


If you would like to contact specific clinicians, view their profiles in the A-Z of staff for individual contact details.

In a theatre


Our Centre of Excellence in Neurosciences is one of the best in the UK. We're focused on delivering compassionate care for the whole family.

Neurosciences - an introduction

Welcome to our Neurosciences department where we have a highly skilled team of professionals working together to provide the best care for all of our patients.

Neurosciences is the umbrella term for the scientific study of the nervous system. It includes the study of molecular, cellular, developmental, structural, functional, evolutionary, computational and medical aspects of the nervous system.

Our services include:


Within Neurosciences we have neurologists, neurosurgeons, specialist nurses, our Epilepsy Service and a dedicated neurology ward.

We see children with disabilities, tumours and diseases affecting the central nervous system and treat thousands of children every year for hundreds of conditions.

A dozen complex operations on brains and spines are performed each week by our neurosurgery team and we have a dedicated ward on S2 where our neurosurgical patients have a dedicated 24/7 team.


Our Epilepsy Service is one of the top services in the UK having led pioneering treatments for the VNS implant and the ketogenic diet.

We pride ourselves on being at the forefront of paediatric treatments and are constantly pushing the boundaries to find new therapies and techniques.

Expert care


Within the Neurosciences Department we have neurologists, neurosurgeons, specialist epilepsy nurses, specialist physiotherapists andoccupational therapists, specialist consultants in individual fields and many other colleagues.

We work together in a multidisciplinary approach to each patient which means we can make sure they get the best and most appropriate care.


Dr Chris Rittey, Head of the Department and Clinical Director of the Medical Division within the Trust is a Neurologist with 30 years of experience.

Dr Rittey established the service for the region and has established clinics in all the surrounding District General Hospitals.

Innovations by his team have led to local and regional awards.

Our 'excellence'

Our Trust is one of just four dedicated paediatric Trusts in the UK specifically treating children and our team of dedicated surgeons and neurologists are skilled in paediatrics.

Alongside other paediatric centres such as Great Ormond Street and Alder Hey we provide bespoke care for children and Sheffield's Neurosciences service is one of the top centres in the country.


Our Epilepsy Service has pioneered the VNS implant for children since 1995, we have the best experience and are widely recognised as the leading centre in the UK.

Helena Nursing Team

Our Helena Specialist Team is a dedicated team designed to maintain neurology patients at home and is now a fully commissioned service which has won local NHS innovation awards.


The Trust has also developed an innovative telemedicine project, one of just a handful in the UK, trialling systems to bring expertise together from across the UK and the world.


VNS implant

Our research has centred primarily around Epilepsy over the last 10 years, developing Sheffield into the UK’s leading centre for the VNS implant.

Other studies have seen clinicians focus on anti-epileptic drugs and other multi-centre trials.


Hundreds of papers for peer reviewed journals have been published via our health professionals furthering study on a wide variety of topics in Neurosciences and all its areas.

Meet the team to read more about individual publications from clinicians and see their profiles and specialisms.

contact us

To correspond with the Neurology Department please use the following address: 

Neurology Department
Ryegate Children’s Centre
Tapton Crescent Road
S10 5DD

Outpatient clinic enquiries: 0114 211 1222
Referral enquiries: 0114 233 3444
Research enquiries: 0114 255 5666

Muscle and Bone - our Centre of Excellence

Muscle and Bone

Sheffield Children's NHS Foundation Trust provides a comprehensive Musculoskeletal and Bone Health Service. We see patients from all over the world and have some of the best specialists in the country.

Muscle and Bone - an introduction

Welcome to Muscle and Bone - a Centre of Excellence at Sheffield Children's Hospital.

We see children and help support families from across the UK and beyond with a wide range of conditions from physiotherapy problems to complex metabolic diseases.

Our specialists have some of the best expertise internationally for:

Our experts work together to make sure patients get the best, most appropriate care from a multidisciplinary team.

We are known on an international platform for our spinal surgery, research into severe metabolic bone diseases, rheumatology care and for our treatment of Osteogenesis Imperfecta.

Children come from all over the UK and sometimes other parts of the world to see our clinicians who can give them the most current treatment and the best care options available.

Expert care

Our consultants and their teams are highly respected nationally and internationally in their fields and have built on this reputation by establishing wide-ranging research projects bringing together new information about rare and complex diseases.

Bone health

Professor Nick Bishop, a Musculoskeletal and Bone Health Consultant, works a joint post across the Hospital Trust and The University of Sheffield.

Professor Bishop has spoken at many international conferences encouraging other clinicians around the world to do research and get involved in projects.


The Rheumatology Team has four consultants, nurse specialists, physiotherapists, plus a dedicated occupational therapist, pharmacist and psychologist. They are one of the UK's largest Paediatric Rheumatology Teams.

The department runs a variety of multi-professional clinics including a sports and exercise clinic, an adolescent clinic and an inflammatory eye disease clinic.

Spinal surgery

The Trust's spinal surgeons Mr Ashley Cole and Mr Lee Breakwell are also know far and wide for their exceptional skills as well as their innovative techniques and surgeries.

They work closely with the families and patients to make sure the patient gets the best possible care for their condition whether it be surgery, a back brace or physiotherapy.

Our 'excellence'

With an international reputation in this field many top clinicians have been attracted to work at our Trust creating an outstanding multidisciplinary service.

We have a dedicated Paediatric and Adolescent Rheumatology Service and our clinic for adolescents is one of the few in the country providing a tailor-made service for teenagers and young adults.

Metabolic Bone Team

Our Metabolic Bone Disease Service is the largest service of its kind in Western Europe and possibly in the world.

It is led by Professor Nick Bishop, world-renowned in his field. He is one of only two Professors of Paediatric Bone Disease in the UK and is Head of the University of Sheffield Academic Unit of Child Health.

The Service has around 250 children undergoing treatment at any one time and are leading an international drug trial study into children with a rare condition called severe hypophosphatasia.

Scoliosis and osteogenesis imperfecta

We are a specialist centre for scoliosis and offer a comprehensive service to children nationally and internationally.

We are also the national centre for treatment of osteogenesis imperfecta of the spine and a major centre for training the next generation of spinal surgeons. We constantly undertake research into spinal disorders to further our knowldege base.


Our Orthotics Department supports the function of many of these teams providing devices for children and young people to be worn externally (orthoses) such as splints, insoles, spinal braces, lycra garments and specialised footwear.


Severe hypophosphatasia

The Metabolic Bone Disease Team are leading an international drug trial project to change the lives of children affected by a rare and severe disease.

The drug, for babies with severe hypophosphatasia who normally die after six months, was developed in North America then trialled across the world with Sheffield Children's NHS Foundation Trust as the largest trial site.

Now, nine of the 11 babies who took part are doing well. Just 35 babies in the world are currently thought to have the genetic condition at any one time - one in a million.

Bone health

Groundbreaking research into how body weight and hormones affect bone health from childhood to adulthood is carried out at our Trust.

Volunteers are encouraged to take part in the study being carried out by medics from the hospital and researchers from the University of Sheffield.

The study involves using revolutionary bone scanning equipment to look at internal bone structure to see if body weight and hormones affect bone development during growth.

Vitamin D trial

Two trials are being run by the Specialist Research Team at Sheffield Children’s Hospital looking into the relationships between Vitamin D and obesity and body weight and bone density.

Once the trials have taken place the data will be analysed and doctors will look for statistical associations between the samples.


We are participating in the UK SYCAMORE trial - a trial of a new biologic therapy for children and young people with eye inflammation associated with juvenile arthritis. We are also taking part in three further national studies.

We believe children should have the opportunity to be involved in high quality research and clinical trials which help us constantly improve the treatments available.

Contact us

Clinical Genetics consultation

Clinical Genetics

A Centre of Excellence throughout the UK and beyond, our diagnostic Clinical Genetics service supports children and adults with genetic conditions from the UK and abroad.

Clinical Genetics - an introduction

Welcome to the Sheffield Clinical Genetics Department where we see families and individuals at risk and affected by genetic conditions.

The service is based in OPD2 at the Northern General Hospital where we see both adults and children - adults make up two thirds of our total number of patients.

Two of our services, Ehlers-Danlos syndrome and Huntington's disease, are also provided for UK-wide and international patients and we are leaders in these fields.

Within our department as a whole we provide the following services:

We see patients from across our local regions including South Yorkshire, North Derbyshire, North Nottinghamshire and South Humberside. Where possible, we also see patients in a clinic near their home.

We are not to be confused with Laboratory Genetics who carry out genetic testing for certain conditions and do not see patients.

Expert care

Within the Clinical Genetics Department we have Consultant Geneticists and Genetic Counsellors. Each consultant specialises in a different field.

We work together in a multidisciplinary approach to each patient which means we can make sure they get the best and most appropriate care.

Specialist clinicians

The Department is headed up by Dr Jackie Cook who has been at the Trust for 17 years and has seen thousands of patients and families. Dr Cook is the only Cancer Geneticist in the Trust and one of only a score in the UK.

Dr Glenda Sobey is one of just a handful of consultants with dual expertise in genetics and dermatology and has been with the Trust six years after training in South Africa under one of the international experts in inherited connective tissue disease.

Dr Oliver Quarrell was the Trust’s first trained geneticist to be appointed by the Trust in 1991. Dr Quarrell has since helped to develop the department from one paediatrician to the current team of six consultants and seven genetic counsellors.

Our 'excellence'

Ehlers-Danlos syndrome (EDS)

We are one of just two centres in the UK to see patients for diagnosis of complex Ehlers-Danlos. This is headed up by Dr Glenda Sobey, an expert in both genetics and dermatology.

We receive referrals from consultants across the country where a diagnosis of atypical or complex EDS is suspected. We see around 200 new patients every year in this field.

The EDS team is involved in guiding other consultants in the management of cases. We also advise colleagues across the country on local patients with EDS helping them to utilise our expertise, thus promoting safe and effective management in this group of rare disorders.

Juvenile Huntington's disease research

One of our Consultants, Dr Oliver Quarrell, is an acknowledged and published expert in Huntington’s disease.

His particular interest is in Juvenile Huntington’s disease and he receives referrals from across the UK and sometimes further afield.

The department is very active in Huntington’s research and is currently part of the Huntington’s Consortium which is a world wide research group into the condition.

Clinical Genetics

The Department offers a comprehensive Clinical Genetics Service for both children and adults.

Dr Meena Balasubramanian has recently been appointed as a consultant clinical geneticist and she provides input into the specialist childhood osteogenesis imperfecta service, run by four departments in the country.


Cancer Genetics

As a department we also contribute to all the national cancer genetics studies. We recruit our patients into such studies in a bid to help further promote research in these areas.

Human Genome Study

We also actively recruit to the DDD study, a project looking using the most detailed investigation of the human genome to identify the cause of human syndromes, learning disabilities and genetic conditions.

This is led by Cambridge University and we are one of the country’s biggest recruiters having recruited around 300 patients so far. Cutting-edge technology is being used to study the genome in a bid to discover the causes of genetic conditions in childhood.

Contact us

For any queries regarding our services please call 0114 271 7025.

Inside the Respiratory Laboratory


We see more than three million children from South Yorkshire and the across the region. Our clinicians provide a comprehensive package for patients with both common and rare respiratory problems.

Breathing - an introduction

Welcome to the Department of Respiratory Medicine. 

Our highly skilled multidisciplinary team provides the best possible care for children with respiratory problems and their families. Meet the respiratory team.

We look after children referred from around the UK with a wide range of problems from asthma and cystic fibrosis to those requiring ventilation at home. Hundreds of patients are referred to us each year.

Visionary care

We pride ourselves on being at the forefront of developments in respiratory medicine which is underpinned by a very strong commitment to research that contributes to continual improvements in clinical care. 

This research has led directly to changes in national and international guidelines. 

The department is committed to an ambulatory patient-focused model of care aiming to keep children at home where ever possible.


Within in the team we have very experienced consultants, nurse specialists, specialist physiotherapists and excellent respiratory physiologists. 

Many children with respiratory problems also have other medical conditions and we work very closely with other departments including thoracic surgery, ENT, gastroenterology and immunology as well as providing advice to other departments including the intensive care and oncology units.

State of the art equipment

The department has state of the art diagnostic services including an extremely well-equipped respiratory physiology unit, sleep disordered breathing laboratory, and imaging. It undertakes more that 150 bronchoscopies a year.


Feedback from children and their families regarding the service has consistently been excellent reflecting our commitment to ensuring that patients are our priority at all times.

Expert care

Within the department we have six consultants who, in addition to running general respiratory clinics, have particular areas of expertise. 

They are supported by a very experienced, expert multidisciplinary team including respiratory and sleep physiologists. Nine specialist nurses with considerable experience provide invaluable support and expertise for families as does our specialist physiotherapist.

Several members of the team are on national committees and run national educational meetings.

Sleep clinic

The team is led by Dr Heather Elphick who specialises in sleep disordered breathing and non-invasive ventilation for long term problems. She is actively involved in research in this area. 

The sleep clinic has strong links with the neurology and ENT departments. We see children with sleep disordered breathing as well as sleep disorders including narcolepsy and parasomnias. We work closely with The Children’s Sleep Charity and run workshops for parents to learn about sleep related behaviour problems.

Children may be admitted from the sleep clinic for investigations which take place on the sleep unit. The unit is run by expert physiologists and nurses who are regularly invited to speak at national and international meetings and are actively involved in research.

Home ventilation and oxygen

We look after around 50 children from the region who require home ventilation. This service is delivered via hospital clinics run by consultants and physiologists and a specialist community based nurse. We aim to deal with problems at home wherever possible.

Dr Ruth O'Reilly leads the home oxygen service and care of preterm infants with chronic lung disease of prematurity. We have an expert specialist nurse who monitors children and deals with problems in the community.

Cystic fibrosis

Dr Noreen West leads the regional Cystic Fibrosis Service.

BreathWorks clinic

We are very proud of our BreathWorks clinic which is led by Nicky Barker, a specialist physiotherapist, and is unique in the UK in dealing with children with dysfunctional breathing. The clinic provides specialist assessment with ENT where required as well as an individual treatment programme for youngsters in whom breathing problems are limiting their ability to perform at their best. The department runs a national conference and is very active in research in this area.

Dr Kelechi Ugonna and our specialist respiratory physiologist have expertise in respiratory physiology related to sport with special focus on providing assessments for elite athletes.

'Difficult' asthma

Dr Ruth O’Reilly has a particular interest in 'difficult' asthma and rare forms of interstitial lung disease and is actively involved in research in these areas. The Difficult Asthma clinic provides multidisciplinary assessment and treatment for children in whom standard asthma treatments are not sufficient.

Our specialist nurse in this area participates in national panels and conferences.


Dr Nicola Jay has particular expertise in allergy and its role in respiratory disease.

Our 'excellence'

'Difficult' asthma

Our department has been a leading international centre in research into the causes and treatment of chronic cough and ‘difficult’ asthma. 

This work has not only led to excellent clinical outcomes for patients under our care it has also led to changes in national and international guidelines.

We are the only centre in the UK with a dedicated clinic for children and adolescents with breathing difficulties that limit their ability to play sport or music to their full potential. 

Specialist lab

A highly specialised respiratory physiology laboratory with state of the art equipment plays an important role in diagnosis.

The department has been at the forefront of developments in sleep disordered breathing in the UK and led on the Royal College guidelines.


The centre has made further investments due to the increasing demand for diagnostic and therapeutic services including home respiratory particularly non-invasive support for those with structural problems affecting the airways and neuromuscular conditions.

Sheffield is also a regional Cystic Fibrosis Centre.


The department has an extremely strong record of research producing more than a hundred publications over the past decade.

Particular areas of interest are:

  • asthma
  • acute bronchiolitis
  • sleep disordered breathing
  • chronic lung disease of prematurity
  • aerosol therapy
  • monitoring of respiratory illness. 

In addition to studies led from Sheffield, both local and national, the department also participates in large multi-centre international studies.

Contact us

Information about the department can be obtained by emailing or by calling 0114 271 7400.

To correspond with the Respiratory Department please use the following address: 

Department of Respiratory Medicine
Sheffield Children's Hospital
Western Bank
S10 2TH

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