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When 12-year-old Ahmad from Derby was born, his parents – and his GP – didn’t know why he was always crying in discomfort. When he started getting unexplained injuries, like broken bones and fractures, his doctor referred him to Sheffield Children's Hospital where he was diagnosed with osteogenesis imperfecta, or brittle bone disease.

Our metabolic bone team are world leaders in the diagnosis and treatment of brittle bones and thanks to £75,000 in donations The Children’s Hospital Charity were able to fund a DXA bone density scanner to keep our hospital at the forefront of medical provision for this illness. The scanner is sensitive enough to scan babies, providing accurate diagnosis from birth that can have a dramatic effect on health outcomes for children with brittle bones.

Gene Sequencer

Gene Sequencer

In 2012/13 we funded a £500,000 ‘GeneMachine’ system used to diagnose patients with rare and inherited diseases thanks to your generous donations.

The Next Generation Sequencers are two of just 15 at NHS trusts, and are able to screen 100 genes at once for mutations – meaning tests for suspected genetic disorders can now be returned within two weeks instead of a year.

Dr Ann Dalton, consultant clinical director of Genetics at Sheffield Children’s NHS Foundation Trust, said: “The machine has revolutionised genetic science for our patients.

It will mean a lot to some of our patients waiting on a confirmed diagnosis or changes in treatment”.

Brain Lab

Brain Lab

Thanks to our charity patron, Michael Vaughan, who raised an incredible £215,000 with a China trek in 2012, we funded ground-breaking surgical equipment for the theatre department.

The brain lab allows our surgeons to see a unique, 3D, real-time map of the area they are operating on – making our hospital one of the most advanced centres for children’s brain tumour removal and complex brain surgery.

Mr Hesham Zaki, consultant neurosurgeon at Sheffield Children’s Hospital, said: “It’s like a GPS system for the brain. We can use it to identify the best, most accurate route to a tumour so we can make smaller incisions.

“For the patients and their families, it means a faster recovery time, a shorter stay in hospital and better outcomes". 

Hydrotherapy Pool

Hydrotherapy Pool

Georgia likes dancing and socialising – doing all the things that 13-year-olds like to do. But a condition called juvenile idiopathic arthritis means she her joints often ache and leave her in pain.

In 2012/13, thanks to your donations, we funded The Children’s Hospital’s hydrotherapy pool at Ryegate House in Sheffield.

The pool provides a vital rehabilitation tool and sensory experience for children seen by the therapy team and is used in the treatment of many different conditions.

Thanks to regular swimming sessions, Georgia can now build her strength and keep active, without putting too much pressure on her joints.

Oliver Ward, physiotherapist at Sheffield Children's Hospital, said: “We find that our patients are able to exercise more rigorously in the pool than on land, which helps them avoid secondary problems such as weight gain, weakness and loss of cardiovascular fitness which risk future arthritis flares.”

Melmark Ultrasound

Melmark Ultrasound

Our hospital is a Centre of Excellence for the treatment of problems with muscles and bones, helping children like Cavan take their first steps.

The youngster has hemimelia, meaning he is missing bones in his arms and legs. He was just one when doctors said he may need to have all four limbs amputated.

But thanks to the care of specialists including consultant orthopaedic surgeon Mr James Fernandes – who created Cavan’s treatment plans - he is one step closer to walking unaided.

In 2014/15, we funded five Melmak Ultrasound machines, to help speed up the bone healing process for children like Cavan. The hand-held device can be used at home, delivering a low intensity pulse which improves and helps form new bone.

CT Scanner

CT Scanner

Benji was diagnosed with leukaemia just a month after his third birthday. At our hospital, a Principal Treatment Centre for children with cancer and leukaemia, children like Benji have the best chance of an early diagnosis, meaning they have the best chance to beat the disease.

With the help of BBC Radio Sheffield and its listeners, we were able to fund a £500,000 64 slice CT scanner in 2010 to aid radiologists in the diagnosis and treatment of a variety of illnesses, including leukaemia. Far faster than the previous scanner, it also emits lower doses of radiation.

Benji is now in remission, but will stay on a low dose of chemotherapy to make sure all of the cancer is gone.

Respiratory rates

Respiratory rates

In 2016/17 we funded research which investigates the varying measurement of respiratory rates in children.

Breathing rate is measured by both nurses and doctors when a child is admitted to hospital and gives a good indication of whether immediate care is needed.

Whilst devices are available to monitor temperature, pulse rate and blood oxygen, breathing rate has to be manually counted, which leaves room for human error.

This research explores the methods through which healthcare professionals monitor breathing rate and whether these differences impact the assessment of the child and their care.

Asthma Research

Asthma Research

Patients with a variety of conditions including asthma, arthritis and cancer who use steroid treatments will benefit from research funded by The Children’s Hospital Charity in 2016/17.

Dr Charlotte Elder has found a non-invasive alternative test for adrenal suppression, caused when steroids inhibit the body’s ability to naturally produce the steroid hormone cortisol. During times of illness and stress it can be fatal.

This new test uses a nasal spray and saliva collection. Previously, healthcare professionals used the Short Synacthen Test to check cortisol production, which involved injecting Synacthen into a vein and then taking blood samples which were invasive, time consuming and often unpleasant.

She can now test why adrenal suppression occurs in youngsters, meaning children like Harvey, who use inhalers, receive the best possible treatment.

Action Lab

Action Lab

We funded the Action Lab at The Children’s Hospital in Sheffield – the only dedicated laboratory in our region for testing children’s lung functions. The team sees all kinds of respiratory patients including children with cystic fibrosis.

The lab has exercise testing equipment, including a treadmill with software that makes the lab even more effective in the diagnosis and treatment of cardio-respiratory problems such as exercise-induced asthma. Our team can now offer the most advanced exercise test, allowing them to test each breath a patient takes during exercise.

We also funded a body plethysmograph, a special cubicle which measures the air a child breathes, airway resistance and changes in air pressure. 

Baby Patient Simulator

Baby Patient Simulator

In 2009/10 we funded a high-level patient simulator baby mannequin which combines mechanical and computer software to allow sophisticated modelling of cardiovascular and respiratory systems.

Used by our critical care and Embrace teams to run specialist training, the program increases the opportunities for clinical staff to practice responses to various crisis scenarios.

This equipment enables innovative and extremely valuable training to be provided virtually anywhere. Trainers can then use the comprehensive video and monitoring data that is captured, to show those being trained any potential improvements.

Investigating food allergies

Investigating food allergies

In 2016/17 we funded a research project which explores whether using a skin cream every day from near birth to up to one year of age can reduce the risk of eczema in infants with a family history of allergies.

This study involved a total of 1282 babies and any effects will be observed within their homes by a research nurse when they reach two years of age.

The research will examine whether food allergies can be caused by eczema in the early months of life and whether skin creams can prevent lifelong food allergies.

Research into Breatheasy use

Research into Breatheasy use

An exciting project to test the world’s first device for measuring respiratory rate was funded by The Children’s Hospital Charity in 2015/16. Led by Dr Heather Elphick, the study will test the ‘Breatheasy’ device, a new handheld machine that avoids the need to manually check a child’s breathing.

It is hard to measure breathing consistently and the risk of human error is high. This machine will provide a consistent way of doing so.

During the research, the device will be used in a variety of settings to evaluate its performance on children and adults in nurseries, schools, universities, hospital emergency departments, general practice surgeries and ambulances.

The device will be of particular use in the emergency departments, where nursing staff will easily be able to measure each child’s respiratory rate so the most seriously ill children can be identified quickly.

3T MRI Scanner

3T MRI Scanner

The Intraoperative 3 Tesla MRI is an advanced technology imaging device funded thanks to your support in 2015/16.

It can be used to produce images of the entire body and its rapid imaging during brain surgery assists the surgeon by providing them with more detailed information.

The 3T is part of a theaters redevelopment that makes the intraoperative suite one of the most advanced operating environments in the country, if not the world.

Hesham Zaki, Paediatric Neurosurgeon at Sheffield Children's Hospital, said: “This is a massive step forward. Our new intraoperative 3T MRI theatre is full of innovations including the most up to date neuronavigation equipment and will allow us to lead on the best outcomes for children’s brain tumours both in the UK and worldwide. Completely removing tumours which were previously inoperable is now a more realistic option.”

Digital X-Ray

Digital X-Ray

In 2013/14, we raised £250,000 to fund a digital X-ray suite that allows images to be ready in just four seconds.

This new technology means that more than 20,000 children every year will benefit from faster and easier X-rays. Instead of moving a hurt patient into position for the X-rays, our radiologists can now move around them.

The suite also uses lower doses of radiation, making it safer, and the high resolution images mean the x-rays are even more accurate.

Research into education around adolescent testicular health

Research into education around adolescent testicular health

A study to develop an effective educational tool for adolescent testicular health was funded by The Children’s Hospital Charity in 2015/16.

There are currently no routine educational services for children and young men highlighting the urgency of a painful or swollen scrotum, even though 1 in 4000 adolescent males experience torsion of the testes each year.

Surgical detorsion can save a testes if performed quickly, with irreversible damaged being noted in the testes from six hours of twist.

The research will steer the development of empowering educational resources to prevent needless testicular loss.

Enhancing expertise in trainee radiologists

Enhancing expertise in trainee radiologists

A study to enhance the training of radiologists has been carried out by Dr Amaka Offiah and was funded by The Children’s Hospital Charity in 2014/15.

Dr Offiah developed a bank of radiographs to study the ways in which trainees progress their expertise. She found that experts take longer to interpret images than trainees, in a break from existing research.

The study suggests several possible reasons, including experts attempting to exclude complications, while juniors don’t look for additional abnormalities once one is found.

The findings will be used to shape future trainee programs.

Analysing telescopic rods

Analysing telescopic rods

Telescopic rods are inserted into the bones of patients suffering from Osteogenesis Imperfecta, or Brittle Bone Disease, to treat fractures and deformity. These rods grow as the bones of the child grow, avoiding the need for frequent re-operations. However, the devices currently have a high failure rate and re-operations are needed in up to 50% of cases.

We funded a research project in 2016/17 which analysed the failed rods once they have been removed. The study will support the design of a new and improved Sheffield Rod, with a far lower failure rate. 

Breast Pumps

Breast Pumps

Premature babies can get the potentially life-saving benefits of their mothers’ breast milk, thanks to four specialist electric breast pumps funded by The Children’s Hospital Charity in 2014/15.

Breast milk is especially important for these babies, whose intestines are often not fully developed and who are prone to infection in their gut. They need the antibodies in the milk to fight off infection.

Embrace

Embrace

The Children's Hospital Charity has a long history of fundraising for critical care services and for Embrace – Yorkshire and the Humber’s dedicated infant transport team.

In 1993, the charity donated the first mobile intensive care ambulance, Bear 1. A second appeal for Bear 2 followed, and the £120,000 needed was raised in just three weeks.

When Embrace was set up in 2009 Bear 2 was their first ambulance and since then, the charity has helped keep the service at the forefront of paediatric care.

In 2014, the charity funded a portable cerebral function monitoring machine for to help newborn babies with suspected seizures or severe oxygen deprivation. This helps prevent cerebral palsy and reduce brain injury, and allows treatment to be started before the child arrives at hospital.

The charity has also funded improvements to incubators and snack packs at Embrace, as well as portable chargers for parents on journeys.

Using thermal imaging for paediatric diagnosis and monitoring

Using thermal imaging for paediatric diagnosis and monitoring

Using thermal imaging, clinicians may be able to help diagnoses children who are ill or injured, without unnecessary delays or radiation.

A study led by Dr Shammi Ramlakhan and funded by The Children’s Hospital Charity in 2015/16 will determine the accuracy of thermal imaging for diagnosing conditions neonatal patients and children with wrist injuries, limps, juvenile idiopathic arthritis or osteogenesis imperfecta.

It will also aid the processing of children under investigation for a suspected non-accidental injury.

Clinical Research Facility

Clinical Research Facility

Throughout 2007, the charity raised a huge £400,000 towards building a brand new Clinical Research Facility.

The first of its kind for children in the UK, the facility provides further child-centred research within Sheffield Children's Hospital.

The facility brings together the research of doctors, students, nurses and other health professionals who are helping forge the way in paediatric care.

Physiotherapy equipment

Physiotherapy equipment

Active challenges ran, walked, cycled and swam their way to funding physiotherapy equipment for two new Therapy Rooms in 2016/17.

The rooms are located on the Surgical and Medical Floor and will treat specialities such as Cystic Fibrosis, Respiratory Medicine, Neurology, Oncology, Burns & Plastics, Orthopaedics, PLRS, Rheumatology and Metabolic Bone Disease.

Physiotherapy and occupational therapy previously took place at patient’s bedside, as well as in public spaces including the corridor and stairs.

Creating a private rehabilitation space will make the activity more fun, as well as making it easier for our patients to achieve their goals. 

Newborn screening

Newborn screening

Each year, we fund up to £250,000 of research into the prevention and cure of childhood illnesses and disease. One of these projects was a pioneering screening programme which detects rare life-threatening diseases in babies.

Thanks to a successful pilot study led by Sheffield Children's Hospital, all newborn babies in England will be screened for four additional rare but serious conditions. Early detection and treatment for these conditions is potentially life-saving and gives children the best chance of a happy and healthy life.

Professor Jim Bonham, national lead for the project and director for newborn screening at Sheffield Children's NHS Foundation Trust, said: "As a result of this study, we have been able to make an enormous difference to children and their families, in some cases giving them the gift of life."

Fluoroscopy

Fluoroscopy

A life-saving machine designed to quickly spot blockages to blood flow was funded by the charity following the success of the Herd of Sheffield and patron Dan Walker’s annual golf day in 2016.

The fluoroscopy system allows our radiologists to see moving X-rays, providing rapid diagnosis when every second counts. Vascular trauma can lead to serious blood loss and disruption to parts of the body and the time from diagnosis to treatment is critical. Loss of blood supply can cause tissue to die, meaning a child could lose their limb. In some cases it can even be fatal.

A continuous X-ray beam is passed through the body part being examined and the beam is transmitted onto a monitor, enabling surgical intervention with minimal scarring and without the child needing to go to theatre.

It is the gold standard for treating vascular trauma and by funding the best equipment available; it means our patients can be treated here at the Children’s Hospital after previously being transferred by air ambulance to Leeds. 

Narcolepsy Day

Narcolepsy Day

A condition that causes young sufferers to fall asleep spontaneously, often dozens of times throughout the day, was explored at a dedicated event funded by The Children’s Hospital Charity.

Narcolepsy is a rare neurological disorder that affects children from around age six, and lasts into adulthood. Children known to have this condition in the region were invited to attend the first Narcolepsy Day in September 2015.

Professor Heather Elphick, consultant in paediatric sleep medicine at Sheffield Children’s Hospital said: “Some children may fall asleep just two or three times in the day, but have sleeps lasting hours on end that they are very difficult to rouse from”

“Others fall asleep dozens of times a day for just a few seconds at a time. They have to be careful when crossing roads, as they may fall asleep while walking, they need to be careful at heights, when around stairs and they may never be able to drive.”

The sleep clinic exists to control the symptoms of narcolepsy, so the children can go on to live their lives and be independent.”

The first Narcolepsy day brought together 40 guests from 12 families across the region to help learn about the condition and introduce support networks. The children, aged 8 – 16, had an opportunity to meet each other, hear specialist advice on their condition and learn about transitioning into adult care. 

Research into anaesthesia safety

Research into anaesthesia safety

Thanks to your donations, a charity-funded study uncovered new findings to help ensure children have a smooth recovery after an anaesthetic.

In research led by Dr Judith Short, consultant in paediatric anaesthesia at Sheffield Children’s NHS Foundation Trust, a trial to see the safest way to remove a laryngeal mask airway after anaesthesia found that fewer complications occur if the child is lying on their side when it is removed.

Dr Short, said: “To administer anaesthesia both in adults and children, the laryngeal mask is often used. At the end of the anaesthetic, the mask is removed before the patient becomes aware of it. During the removal and immediately after, it is possible for complications to occur, such as coughing, vomiting, obstruction of the air passage, closure of vocal cords, and reduction of the oxygen in the blood.”

Previous research has found that removing the mask while the patient is deeply anaesthetised or just before waking leads to the fewest complications. But studies report that complications can affect up to 35 per cent of patients.

Dr Short’s study involved a trial on 216 patients. They were allocated into four groups with different instructions regarding the removal of the laryngeal mask. Records were kept of any airway complications in the first 15 minutes, and the complications were graded based on their seriousness.

Dr Short added: “There was a significant difference between the overall rate of complications in the four groups, with the lowest rate of complications occurring in the group whose masks were removed with them deeply anaesthetised and on their sides and the lowest seriousness score occurring in the group whose masks were removed just before full wakefulness on their side. We were therefore able to recommend that there is an advantage to placing children on their side for removal of a laryngeal mask and recovery after anaesthesia”

The findings have been published in the European Journal of Anaesthesiology. The study was part of The Children’s Hospital Charity’s £250,000 commitment each year researching the prevention and cure of childhood illness and disease. 

Juvenile arthritis research

Juvenile arthritis research

A research study to develop a computerised tool to detect joint inflammation in children with suspected juvenile idiopathic arthritis has been funded by The Children’s Hospital Charity in 2015/16.

The study, by Dr Daniel Hawley, will help develop computer models for 3D analysis of the gait movements of healthy children, which may be useful in detecting subtle joint changes resulting in altered movement during examination.

It will mean children like Georgia, 13, who suffer with juvenile arthritis, have a better chance of an early diagnosis and can get the help they need faster.

Play Tower

Play Tower

In Christmas 2016, we all went a bit elfy to fund a giant Play Tower in the new outpatients department of the hospital. This will be a child-friendly space where patients can go for distraction and fun, away from their hospital wards.

When children come in to hospital for a planned appointment or for a procedure they can often be quite anxious. The Play Tower will give them something exciting and adventurous to spot and be a place where they can play and have fun.

Every donation to the Christmas fund, up to a total value of £100,000, was matched by Graham Royle of GRI Group, effectively doubling each contribution.

Graham Royle, CEO of GRI Group said, “The Children's Hospital Charity is renowned for funding highly specialised technology for improving patients' treatment but less well known for its hugely important investments in patients' wellbeing. It is believed that relieving stress aids recovery, so this new play tower has massive medical benefits, as well as providing the children with lots of fun.”

Designed by Avanti Architects, the one-of-a-kind tower covers multiple floors and is covered in brightly coloured windows and furnishing – making visiting hospital an adventure for patients.

Rare metabolic diseases research

Rare metabolic diseases research

In 2015/16, a study was funded by The Children’s Hospital Charity aimed at improving the diagnosis of children with inherited metabolic diseases.

Inherited metabolic diseases are a group of individually rare but collectively common conditions that affect the metabolism. They can be severe or even fatal, so making a quick and easy diagnosis vital.

The research, led by Dr Richard Kirk used exome sequencing to examine ten children who had yet to be diagnosed. The study analysed the genes of these children analysed, before drawing on available clinical and biochemical information to form a definitive diagnosis.

The research aimed to show the equipment and expertise available at our hospital needs to be rolled out across the NHS, and pave the way for a national study.

Gym Equipment for Cystic Fibrosis patients

Gym Equipment for Cystic Fibrosis patients

New exercise equipment was funded for Cystic Fibrosis patients in 2015/16, to be used in a specially designed gym as well as in patient’s rooms.

This much-needed equipment will significantly help CF patients get the exercise they need to speed along their treatment.

As some patients are limited to staying in their room and cannot access the gym, the new equipment can be transferred and is taken to their room to help them exercise while they are staying at our hospital.

Defibrillators

Defibrillators

All eight of the hospital’s defibrillators were replaced in 2017 to provide staff with the latest equipment across all areas of the hospital.

Defibrillation is the delivery of lifesaving electrical energy to the heart during an abnormal rhythm or very rapid erratic beating of the heart.

The new defibrillators will provide the emergency clinicians with real-time feedback on their chest compressions which is proven to increase the quality of CPR and improve the chances of saving the patient’s life.

New Hospital Wing

New Hospital Wing

The project is vital to the future of our hospital. Lots of wards were built in the 1960's, the hospital is becoming increasingly cramped and there is limited outdoor space.

Our Make it Better Appeal aims to match world class facilities with the existing world class care, creating the best possible environment for children to get better more quickly.

We have already funded enhancements to the project such as bedroom entertainment systems, furniture, parent beds, en-suit facilities, hoist plus much more but there is still a long way to go. 

Sleep workshops

Sleep workshops

Thanks to your donations, we fund regular sleep workshops and sleep studies at our hospital, enabling sleep-deprived youngsters and their parents to get a good night's rest.

One youngster who recently took part in a sleep workshop was Libby and her mum Jenny. Jenny, a working parent, didn't know where to turn after Libby began waking to play for up to three hours every night.

Jenny said: "I left the workshop feeling more positive than I had in months. It was amazing to speak to other families who knew exactly what we were going through, who understood how broken sleep can affect every part of your life. We weren’t alone!”

“The trainers were fantastic, empathetic, knowledgeable and they’d been through it too – they knew! We put a lot of things I’d learnt that day into practice and things did improve"

Nelson the prosthetic eye

Nelson the prosthetic eye

Nelson is a silicon eye model which helps teach patients and families insert and remove lenses and prosthesis, as well as explaining procedures including taking an impression of the eye.

It helps train the parents or carers who may have to insert contact lenses for their baby or infant if they are for example born with cataracts.

It was funded in 2016 thanks to your kind donations and is one of hundreds of smaller projects, which make a major difference to the lives of our patients.

High Frequency Oscillator Ventilator

High Frequency Oscillator Ventilator

Funded solely by the Bancroft family and the Hathersage community in 2016/17, the new High Frequency Oscillator Ventilator is a specialist piece of equipment used to help children with breathing difficulties or whose lungs are not functioning properly.

Conventional ventilators replicate the patient’s normal breathing patterns whereas the new oscillator functions by giving small volumes of air and oxygen into the lungs at a high frequency, which helps to prevent the lungs from being damaged by high pressures.

Smaller children are automatically given the correct energy during resuscitation and it also provides real time feedback and monitors the rate and depth of chest compressions.

This improves the quality of resuscitation and helps to improve the chances of saving a patient’s life.

Minimally invasive autopsy

Minimally invasive autopsy

We funded research that helps families at their most difficult time, by offering an minimally invasive autopsy option that is as effective as conventional methods.

The research has been called the future of pathology after Dr Marta Cohen, consultant pathologist at Sheffield Children's Hospital, identified a way to carry out a post-mortem using just two insertions and an MRI.

She said: “An autopsy is a legal requirement in some cases, so families don’t have a choice. Some want answers, but others don’t like the idea of an invasive process. This makes it easier for them when their hands are tied with a decision as we can give them this option.

“Unlike in areas like genealogy where there has been an explosion of techniques and development, pathology has remained static. The autopsy is the same now as it was 100 years ago. Minimally invasive autopsy is the big step that pathology has needed.”

The new procedure involves just one insertion into the chest, called a thoracoscopy to take samples and a laparoscopy into the stomach. An MRI is also carried out.

The research, carried out by Dr Cohen alongside Dr Sethuraman, Dr Elspeth Whitby, Mr Sean Marven and Mr Richard Lindley, involved carrying out a minimally invasive autopsy and a conventional autopsy and comparing the findings. It was found to be as effective, and can be used in two thirds of cases where autopsy is required.

Wheelchair roundabout at Ryegate

Wheelchair roundabout at Ryegate

Staff and supporters of Sheffield Children’s Hospital raised £8,000 in 2016/17 for a wheelchair friendly roundabout in the playground of the specialist centre at Ryegate House.

Support worker Paula Widdowson spearheaded the fundraising campaign, facilitated through The Children’s Hospital Charity, to improve the play equipment in the Ryegate House garden.

“We’ve got a wheelchair swing for the children to play with but only one person can use it at a time so they all have to take turns,” said Paula. “We thought if we got a wheelchair roundabout more children could be playing rather than sat watching the others.”

The roundabout was purchased from Inclusive Play, a company which specialise in making play equipment that both disabled and fully able children can enjoy. It has enough space for two children using wheelchairs to play on at a time – and also has a small seated area for children who don’t require the use of a wheelchair.

“It’ll be so nice for the children to be able to use the roundabout and to feel the air on their face and the sensation of going round,” said Paula. “The children we look after love sensory lights and noises. Having the roundabout will mean that they’ll be able to do more out in the garden.”

“Play helps the children to interact more with our staff. Children come here every week and we try to make it like a home from home for them. We don’t just provide them with care, we like to do nice things with them like crafts or even things like making custard – it ends up going everywhere but the kids enjoy it!

Brittle Bones Disease

Brittle Bones Disease

In Sheffield we have the largest number of children with Osteogenesis Imperfecta, or Brittle Bone Disease, in Western Europe.

Through a study led by Dr Meena Balasubramanian and funded in 2016/17 by the Children’s Hospital Charity, we have identified a number of genes which may potentially cause bone fragility in patients. 

We’re now working in collaboration with the University of Sheffield to understand how these genes function. Once we know more about the role these genes play, we can take steps towards reversing their disease-causing mechanisms at a cellular level.

The study used exome sequencing technology, available at the Children's Hospital, to test all the human genes in a group of children who test negative using current OI testing methods to establish the genetic cause of their bone disease. 

Understanding its genetic origins will allow clinicians to better provide for patients. In the long term, it will help researchers understand how the disease affects bone formation and allow more effective treatments to be discovered.