Two four-year-old girls who underwent tests at Great Ormond Street Hospital have become the first children whose rare diseases were diagnosed through the mapping of their genetic codes.
The 100,000 Genomes Project is an ambitious government-led programme to sequence 100,000 whole genomes, and it has been described as a “paradigm shift” in healthcare, focusing on the genetic causes of disease.
The results, which have pinpointed changes in genes as the cause of two previously undiagnosed conditions, come from the first wave of families recruited by the project. They will allow doctors at GOSH to give better treatment options to the two children and have the potential to help many others.
The genomes project was launched by NHS England in 2014 and GOSH is a member of one of the 11 “genomic medicine centres” that have been set up across England to recruit tens of thousands of patients with rare genetic disorders by 2018.
The £300m project, which is currently focusing on five common cancers and 100 inherited conditions, will eventually sequence the genomes – the human genetic blueprints – of about 75,000 patients and family members with rare genetic disorders or cancer. Some of these will have more than one version of their genome sequenced, making up the 100,000 total.
One of the two patients is Jessica Wright from East Sussex, who became unsteady on her feet when she was around a year old. She also began to suffer from seizures and after a series of invasive tests her mother, Kate, and father, Simon, were told she had an undiagnosed condition.
Around 7,000 children a year in the UK are born with a genetic condition that can’t be diagnosed, and Jessica’s parents were delighted when they found they could take part in the project, which is run by Genomics England, the firm set up to oversee the project. “We had so many tests and we felt like this was our last hope to find out what was wrong with her,” said Kate.
Meet the patients and doctors of GOSH
Meet the patients and doctors of GOSH
1/9 Elliott Livingstone
Two-year-old Elliott is a “cheeky” little boy who has a Thomas the Tank Engine sticker on his Berlin heart machine, which has kept him alive since his own heart failed eight months ago. Elliott has two tubes pumping blood around his tiny body. It keeps him alive but the machine has left him confined to the wards of Great Ormond Street Hospital until a new heart is found
2/9 Melissa Strickland
As the ward sister on Koala Ward, Melissa Strickland leads a nursing team with the challenging job of looking after children with craniofacial and neurological conditions. “You have to have all the skills and knowledge to do this job but personally for me you cannot do it unless you have passion but also compassion,” she said. “You don’t get used to the sad side of things but you do learn to manage it.”
3/9 Amy Willis
Amy Willis carries a discreet black medical bag everywhere she goes. It contains the cutting-edge HeartWare device that is keeping her alive. A smaller, more advanced version of the Berlin artificial heart, it was fitted in April after she was emergency airlifted to GOSH from Alder Hey hospital in Liverpool. The device means that 14-year-old Amy can be home in Flintshire this Christmas while remaining on the heart transplant waiting list. She is doing well but 15 per cent of patients with a HeartWare device or Berlin heart die while waiting for a new heart, so money raised by the appeal will also go to help researchers identify ways to keep children alive while they await transplant
4/9 Myra Bluebond-Langner
Professor Myra Bluebond-Langner represents the vital work of the Louis Dundas Centre for Children’s Palliative Care, GOSH’s world-class centre dedicated to research and care for children with life-limiting illnesses. The LDC is named in honour of Louis Dundas, a four-year-old boy who died in “unspeakable pain” after suffering a brain tumour in April 2008. Its aim is to ensure that no child suffers unnecessarily in their final days. Money raised from The Independent’s Give to GOSH appeal will go to fund the team’s work to manage pain, and also fund vital research into palliative care in children across the whole of the UK. Professor Bluebond-Langner, who heads the research, said: “Paediatric palliative care is a relatively new field where practice has outstripped research. We look to change that.”
5/9 Finella Craig
Together with with Professor Myra Bluebond-Langner, Dr Finella Craig represents the vital work of the Louis Dundas Centre for Children’s Palliative Care, GOSH’s world-class centre dedicated to research and care for children with life-limiting illnesses. The LDC is named in honour of Louis Dundas, a four-year-old boy who died in “unspeakable pain” after suffering a brain tumour in April 2008. Its aim is to ensure that no child suffers unnecessarily in their final days. “One of the worst experiences for a family is to witness their child in pain and discomfort, and for them to feel totally powerless to do anything about it,” said Dr Craig, a consultant in paediatric palliative medicine at GOSH since 2002. Money raised from The Independent’s Give to GOSH appeal will go to fund the team’s work to manage pain, and also fund vital research into palliative care in children across the whole of the UK.
6/9 Rowan Pethard
Like most little boys, Rowan Pethard loves playing football. At the start of 2015 the seven-year-old Spurs fan baffled his doctors in Hemel Hempstead with a string of coughs, colds, tummy bugs, aches, pains and rashes. It wasn’t until quite late on that doctors discovered he had leukaemia. He spent two days in intensive care while he had emergency chemo. He has two years of follow-up treatment ahead. “He’s amazing, a little superhero,” his mum said. “It makes it easier for his father and I and his brother to cope.”
7/9 Martin Elliott
Paediatric heart and lung surgeon Martin Elliott, 64, is one of the longest serving doctors at GOSH, leading groundbreaking research and treating thousands of patients over the past 30 years. His work has bridged the gap between surgery and research with skills ranging from heart-bypass surgery to correcting congenital lung disorders.
8/9 Ralph Frost
For Ralph the hardest thing about having to live at GOSH while he waits for a new kidney isn’t missing his toys. He has plenty of those and can terrorise the nurses by pushing his little red motorbike down the corridors of Eagle Ward. The hardest thing for the six-year-old is battling not to cry out during his nightly dialysis sessions. “It really hurts,” he said. “But the other kids are sleeping and I don’t want to wake them up.” Ralph suffers from nephrotic syndrome and is currently waiting for a kidney from his father, Nick. He’s called the kidney “Chase” and his parents, who have been trained to operate his dialysis machine, hope to be home by Christmas
9/9 Lynsey Steele
The strongest praise for Lynsey Steele, 33, comes from the parents of the children she helps. “The children here wouldn’t get by without Lynsey,” said Ralph’s mother Amie Frost. “If she wasn’t here then we’d have cracked up.” Lynsey’s role, which is funded by the Great Ormond Street Hospital Children’s Charity and will be supported by The Independent’s Give to GOSH appeal, is to help children play and relax, but also to have the difficult conversations explaining their treatment
Now the family have a diagnosis they have been able to ensure Jessica follows a special diet, which should allow her to reduce her medication and improve her epilepsy. “It may also open doors to other research projects that we can go on,” said Kate.
Professor Lyn Chitty, the clinical lead at GOSH for the project, said the study showed that genomics could “change the way we diagnose patients”. She hopes the positive results will encourage more doctors to refer patients to the project.
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