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Ten newborns with the rare genetic disorder known as “bubble boy ” disease were cured with gene therapy , researchers said on Wednesday.
The treatment appears to have completely rid the babies of their immune disorder with no side effects or complications – a result scientists have sought for decades through painstaking research and heartbreaking setbacks.
An earlier attempt to use gene therapy to treat severe combined immunodeficiency disease, or SCID, was halted in 2003 after researchers realised the therapy was giving the children cancer.
The treatment announced on Wednesday does not appear to carry such calamitous side effects, and experts hope it could help advance cures for other rare genetic disorders, such as sickle cell disease.
“It’s a game changer,” said Jennifer Hemall, a paediatric immunologist at Children’s Hospital of Philadelphia, who was not involved in the study.
Science news in picturesShow all 20 1 /20Science news in pictures Science news in pictures Pluto has 'beating heart' of frozen nitrogen Pluto has a 'beating heart' of frozen nitrogen that is doing strange things to its surface, Nasa has found. The mysterious core seems to be the cause of features on its surface that have fascinated scientists since they were spotted by Nasa's New Horizons mission. "Before New Horizons, everyone thought Pluto was going to be a netball - completely flat, almost no diversity," said Tanguy Bertrand, an astrophysicist and planetary scientist at NASA's Ames Research Center and the lead author on the new study. "But it's completely different. It has a lot of different landscapes and we are trying to understand what's going on there."
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Science news in pictures Over 400 species discovered this year by Natural History Museum The ancient invertabrate worm-like species rhenopyrgus viviani (pictured) is one of over 400 species previously unknown to science that were discovered by experts at the Natural History Museum this year
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Science news in pictures Jackdaws can identify 'dangerous' humans Jackdaws can identify “dangerous” humans from listening to each other’s warning calls, scientists say. The highly social birds will also remember that person if they come near their nests again, according to researchers from the University of Exeter. In the study, a person unknown to the wild jackdaws approached their nest. At the same time scientists played a recording of a warning call (threatening) or “contact calls” (non-threatening). The next time jackdaws saw this same person, the birds that had previously heard the warning call were defensive and returned to their nests more than twice as quickly on average.
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Science news in pictures Turtle embryos influence sex by shaking The sex of the turtle is determined by the temperatures at which they are incubated. Warm temperatures favour females. But by wiggling around the egg, embryos can find the “Goldilocks Zone” which means they are able to shield themselves against extreme thermal conditions and produce a balanced sex ratio, according to the new study published in Current Biology journal
Ye et al/Current Biology
Science news in pictures Elephant poaching rates drop in Africa African elephant poaching rates have dropped by 60 per cent in six years, an international study has found. It is thought the decline could be associated with the ivory trade ban introduced in China in 2017.
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Science news in pictures Ancient four-legged whale discovered in Peru Scientists have identified a four-legged creature with webbed feet to be an ancestor of the whale. Fossils unearthed in Peru have led scientists to conclude that the enormous creatures that traverse the planet’s oceans today are descended from small hoofed ancestors that lived in south Asia 50 million years ago
A. Gennari
Science news in pictures Animal with transient anus discovered A scientist has stumbled upon a creature with a “transient anus” that appears only when it is needed, before vanishing completely. Dr Sidney Tamm of the Marine Biological Laboratory could not initially find any trace of an anus on the species. However, as the animal gets full, a pore opens up to dispose of waste
Steven G Johnson
Science news in pictures Giant bee spotted Feared extinct, the Wallace's Giant bee has been spotted for the first time in nearly 40 years. An international team of conservationists spotted the bee, that is four times the size of a typical honeybee, on an expedition to a group of Indonesian Islands
Clay Bolt
Science news in pictures New mammal species found inside crocodile Fossilised bones digested by crocodiles have revealed the existence of three new mammal species that roamed the Cayman Islands 300 years ago. The bones belonged to two large rodent species and a small shrew-like animal
New Mexico Museum of Natural History
Science news in pictures Fabric that changes according to temperature created Scientists at the University of Maryland have created a fabric that adapts to heat, expanding to allow more heat to escape the body when warm and compacting to retain more heat when cold
Faye Levine, University of Maryland
Science news in pictures Baby mice tears could be used in pest control A study from the University of Tokyo has found that the tears of baby mice cause female mice to be less interested in the sexual advances of males
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Science news in pictures Final warning to limit "climate catastrophe" The Intergovernmental Panel on Climate Change has issued a report which projects the impact of a rise in global temperatures of 1.5 degrees Celsius and warns against a higher increase
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Science news in pictures Nobel prize for evolution chemists The nobel prize for chemistry has been awarded to three chemists working with evolution. Frances Smith is being awarded the prize for her work on directing the evolution of enzymes, while Gregory Winter and George Smith take the prize for their work on phage display of peptides and antibodies
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Science news in pictures Nobel prize for laser physicists The nobel prize for physics has been awarded to three physicists working with lasers. Arthur Ashkin (L) was awarded for his "optical tweezers" which use lasers to grab particles, atoms, viruses and other living cells. Donna Strickland and Gérard Mourou were jointly awarded the prize for developing chirped-pulse amplification of lasers
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Science news in pictures Discovery of a new species of dinosaur The Ledumahadi Mafube roamed around 200 million years ago in what is now South Africa. Recently discovered by a team of international scientists, it was the largest land animal of its time, weighing 12 tons and standing at 13 feet. In Sesotho, the South African language of the region in which the dinosaur was discovered, its name means "a giant thunderclap at dawn"
Viktor Radermacher / SWNS
Science news in pictures Birth of a planet Scientists have witnessed the birth of a planet for the first time ever. This spectacular image from the SPHERE instrument on ESO's Very Large Telescope is the first clear image of a planet caught in the very act of formation around the dwarf star PDS 70. The planet stands clearly out, visible as a bright point to the right of the center of the image, which is blacked out by the coronagraph mask used to block the blinding light of the central star.
ESO/A. Müller et al
Science news in pictures New human organ discovered that was previously missed by scientists Layers long thought to be dense, connective tissue are actually a series of fluid-filled compartments researchers have termed the “interstitium”. These compartments are found beneath the skin, as well as lining the gut, lungs, blood vessels and muscles, and join together to form a network supported by a mesh of strong, flexible proteins
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Science news in pictures Previously unknown society lived in Amazon rainforest before Europeans arrived, say archaeologists Working in the Brazilian state of Mato Grosso, a team led by archaeologists at the University of Exeter unearthed hundreds of villages hidden in the depths of the rainforest. These excavations included evidence of fortifications and mysterious earthworks called geoglyphs
José Iriarte
Science news in pictures One in 10 people have traces of cocaine or heroin on fingerprints, study finds More than one in 10 people were found to have traces of class A drugs on their fingers by scientists developing a new fingerprint-based drug test. Using sensitive analysis of the chemical composition of sweat, researchers were able to tell the difference between those who had been directly exposed to heroin and cocaine, and those who had encountered it indirectly.
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Science news in pictures Nasa releases stunning images of Jupiter's great red spot The storm bigger than the Earth, has been swhirling for 350 years. The image's colours have been enhanced after it was sent back to Earth.
Pictures by: Tom Momary
“For immunologists following this disease, gene therapy has always been out there as the hope of the future. It’s exciting to see this wave of treatments actually becoming a reality.”
Infants with SCID are essentially born without a functioning immune system .
Without treatment, they rarely survive past their first birthday and can be killed by infections as innocuous as the common cold.
Such children were once kept isolated in sterile environments, giving rise to the term “bubble boy”. Their unusual predicament has caught national attention and has been featured in movies and TV shows.
The survival rate in recent years has soared with the advent of widespread screening tests and refinement of lifesaving procedures such as bone marrow transplants.
But such treatments have come with complications, often leaving children dependent on regular infusions of immunoglobulin or causing their new immune systems to attack their own bodies.
The new gene therapy – developed by St. Jude Children’s Research Hospital and UCSF Benioff Children’s Hospital in San Francisco and published in the New England Journal of Medicine – corrects the genetic defect in the DNA of babies soon after they’re born, prompting their bodies to generate missing parts of their immune system.
In interviews, the researchers said they first extracted blood stem cells from the infants’ bone marrow.
They used a modified virus as a vehicle to deliver the correct copy of a defective gene into those patients’ stem cells. Those corrected cells were then re-infused back into the patient, where they proliferated and created healthy immune cells.
To avoid accidentally turning on cancer-causing genes as previous gene therapies did, the researchers built “insulators” into the virus so neighbouring genes wouldn’t be affected when the virus made its insertion into the DNA.
In another innovation, the researchers gave their infant patients a tiny amount of chemotherapy to clear existing cells from the bone marrow before they re-infused the treated cells, giving the corrected cells a better chance to take hold.
Support free-thinking journalism and attend Independent events The announcement was bittersweet for many at St. Jude Children’s Research Hospital.
Their team leader and senior author on the paper, Brian Sorrentino, spent the final months of his life racing against a fatal cancer to finish his work on the experimental treatment.
Dr Sorrentino was diagnosed at a young age with Hodgkin’s lymphoma, said his widow, Suzanne Sorrentino.
Because better treatments did not yet exist, his doctors used radiation that weakened his heart and produced the lung cancer that killed him last November.
“The loss of hair, the pain and agony of the treatment, it’s what made him determined to find new treatments for other diseases in kids,” his widow said in an interview.
Since the 1990s, Dr Sorrentino had been working alongside other immunologists on gene therapy for SCID, but his work took on new urgency in the final year and half of his life after his cancer diagnosis, Suzanne said.
When he could no longer get to the hospital, St. Jude colleagues started arranging conference calls and setting up shop at Dr Sorrentino’s home dining table.
By then, it was apparent that the experimental procedure was succeeding. Several of their infant patients had grown into toddlers with normal immune systems.
“He told me he thought he was saved as a kid from Hodgkin’s because there was something he thought he should be doing with his life,” said Suzanne, her voice cracking as she recalled one of the last conversations with her husband.
“With the trial working, and the children doing so well, he felt it was a sign that he achieved what he was supposed to. That it was time for him to go.”
In recent years, as screening newborns for SCID has become mandatory across the country, experts have found the disease to be more common than previously thought – occurring in as many as 1 in 50,000 infants.
There are several forms of SCID.
Health news in picturesShow all 40 1 /40Health news in pictures Health news in pictures Coronavirus outbreak The coronavirus Covid-19 has hit the UK leading to the deaths of two people so far and prompting warnings from the Department of Health
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Health news in pictures Thousands of emergency patients told to take taxi to hospital Thousands of 999 patients in England are being told to get a taxi to hospital, figures have showed. The number of patients outside London who were refused an ambulance rose by 83 per cent in the past year as demand for services grows
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Health news in pictures Vape related deaths spike A vaping-related lung disease has claimed the lives of 11 people in the US in recent weeks. The US Centre for Disease Control and Prevention has more than 100 officials investigating the cause of the mystery illness, and has warned citizens against smoking e-cigarette products until more is known, particularly if modified or bought “off the street”
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Health news in pictures Baldness cure looks to be a step closer Researchers in the US claim to have overcome one of the major hurdles to cultivating human follicles from stem cells. The new system allows cells to grow in a structured tuft and emerge from the skin
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Health news in pictures Two hours a week spent in nature can improve health A study in the journal Scientific Reports suggests that a dose of nature of just two hours a week is associated with better health and psychological wellbeing
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Health news in pictures Air pollution linked to fertility issues in women Exposure to air from traffic-clogged streets could leave women with fewer years to have children, a study has found. Italian researchers found women living in the most polluted areas were three times more likely to show signs they were running low on eggs than those who lived in cleaner surroundings, potentially triggering an earlier menopause
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Health news in pictures Junk food ads could be banned before watershed Junk food adverts on TV and online could be banned before 9pm as part of Government plans to fight the "epidemic" of childhood obesity. Plans for the new watershed have been put out for public consultation in a bid to combat the growing crisis, the Department of Health and Social Care (DHSC) said
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Health news in pictures Breeding with neanderthals helped humans fight diseases On migrating from Africa around 70,000 years ago, humans bumped into the neanderthals of Eurasia. While humans were weak to the diseases of the new lands, breeding with the resident neanderthals made for a better equipped immune system
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Health news in pictures Cancer breath test to be trialled in Britain The breath biopsy device is designed to detect cancer hallmarks in molecules exhaled by patients
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Health news in pictures Average 10 year old has consumed the recommended amount of sugar for an adult By their 10th birthdy, children have on average already eaten more sugar than the recommended amount for an 18 year old. The average 10 year old consumes the equivalent to 13 sugar cubes a day, 8 more than is recommended
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Health news in pictures Child health experts advise switching off screens an hour before bed While there is not enough evidence of harm to recommend UK-wide limits on screen use, the Royal College of Paediatrics and Child Health have advised that children should avoid screens for an hour before bed time to avoid disrupting their sleep
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Health news in pictures Daily aspirin is unnecessary for older people in good health, study finds A study published in the New England Journal of Medicine has found that many elderly people are taking daily aspirin to little or no avail
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Health news in pictures Vaping could lead to cancer, US study finds A study by the University of Minnesota's Masonic Cancer Centre has found that the carcinogenic chemicals formaldehyde, acrolein, and methylglyoxal are present in the saliva of E-cigarette users
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Health news in pictures More children are obese and diabetic There has been a 41% increase in children with type 2 diabetes since 2014, the National Paediatric Diabetes Audit has found. Obesity is a leading cause
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Health news in pictures Most child antidepressants are ineffective and can lead to suicidal thoughts The majority of antidepressants are ineffective and may be unsafe, for children and teenager with major depression, experts have warned. In what is the most comprehensive comparison of 14 commonly prescribed antidepressant drugs to date, researchers found that only one brand was more effective at relieving symptoms of depression than a placebo. Another popular drug, venlafaxine, was shown increase the risk users engaging in suicidal thoughts and attempts at suicide
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Health news in pictures Gay, lesbian and bisexual adults at higher risk of heart disease, study claims Researchers at the Baptist Health South Florida Clinic in Miami focused on seven areas of controllable heart health and found these minority groups were particularly likely to be smokers and to have poorly controlled blood sugar
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Health news in pictures Breakfast cereals targeted at children contain 'steadily high' sugar levels since 1992 despite producer claims A major pressure group has issued a fresh warning about perilously high amounts of sugar in breakfast cereals, specifically those designed for children, and has said that levels have barely been cut at all in the last two and a half decades
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Health news in pictures Potholes are making us fat, NHS watchdog warns New guidance by the National Institute for Health and Care Excellence (NICE), the body which determines what treatment the NHS should fund, said lax road repairs and car-dominated streets were contributing to the obesity epidemic by preventing members of the public from keeping active
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Health news in pictures New menopause drugs offer women relief from 'debilitating' hot flushes A new class of treatments for women going through the menopause is able to reduce numbers of debilitating hot flushes by as much as three quarters in a matter of days, a trial has found. The drug used in the trial belongs to a group known as NKB antagonists (blockers), which were developed as a treatment for schizophrenia but have been “sitting on a shelf unused”, according to Professor Waljit Dhillo, a professor of endocrinology and metabolism
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Health news in pictures Doctors should prescribe more antidepressants for people with mental health problems, study finds Research from Oxford University found that more than one million extra people suffering from mental health problems would benefit from being prescribed drugs and criticised “ideological” reasons doctors use to avoid doing so.
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Health news in pictures Student dies of flu after NHS advice to stay at home and avoid A&E The family of a teenager who died from flu has urged people not to delay going to A&E if they are worried about their symptoms. Melissa Whiteley, an 18-year-old engineering student from Hanford in Stoke-on-Trent, fell ill at Christmas and died in hospital a month later.
Just Giving
Health news in pictures Government to review thousands of harmful vaginal mesh implants The Government has pledged to review tens of thousands of cases where women have been given harmful vaginal mesh implants.
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Health news in pictures Jeremy Hunt announces 'zero suicides ambition' for the NHS The NHS will be asked to go further to prevent the deaths of patients in its care as part of a “zero suicide ambition” being launched today
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Health news in pictures Human trials start with cancer treatment that primes immune system to kill off tumours Human trials have begun with a new cancer therapy that can prime the immune system to eradicate tumours. The treatment, that works similarly to a vaccine, is a combination of two existing drugs, of which tiny amounts are injected into the solid bulk of a tumour.
Nephron
Health news in pictures Babies' health suffers from being born near fracking sites, finds major study Mothers living within a kilometre of a fracking site were 25 per cent more likely to have a child born at low birth weight, which increase their chances of asthma, ADHD and other issues
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Health news in pictures NHS reviewing thousands of cervical cancer smear tests after women wrongly given all-clear Thousands of cervical cancer screening results are under review after failings at a laboratory meant some women were incorrectly given the all-clear. A number of women have already been told to contact their doctors following the identification of “procedural issues” in the service provided by Pathology First Laboratory.
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Health news in pictures Potential key to halting breast cancer's spread discovered by scientists Most breast cancer patients do not die from their initial tumour, but from secondary malignant growths (metastases), where cancer cells are able to enter the blood and survive to invade new sites. Asparagine, a molecule named after asparagus where it was first identified in high quantities, has now been shown to be an essential ingredient for tumour cells to gain these migratory properties.
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Health news in pictures NHS nursing vacancies at record high with more than 34,000 roles advertised A record number of nursing and midwifery positions are currently being advertised by the NHS, with more than 34,000 positions currently vacant, according to the latest data. Demand for nurses was 19 per cent higher between July and September 2017 than the same period two years ago.
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Health news in pictures Cannabis extract could provide ‘new class of treatment’ for psychosis CBD has a broadly opposite effect to delta-9-tetrahydrocannabinol (THC), the main active component in cannabis and the substance that causes paranoia and anxiety.
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Health news in pictures Over 75,000 sign petition calling for Richard Branson's Virgin Care to hand settlement money back to NHS Mr Branson’s company sued the NHS last year after it lost out on an £82m contract to provide children’s health services across Surrey, citing concerns over “serious flaws” in the way the contract was awarded
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Health news in pictures More than 700 fewer nurses training in England in first year after NHS bursary scrapped The numbers of people accepted to study nursing in England fell 3 per cent in 2017, while the numbers accepted in Wales and Scotland, where the bursaries were kept, increased 8.4 per cent and 8 per cent respectively
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Health news in pictures Landmark study links Tory austerity to 120,000 deaths The paper found that there were 45,000 more deaths in the first four years of Tory-led efficiencies than would have been expected if funding had stayed at pre-election levels. On this trajectory that could rise to nearly 200,000 excess deaths by the end of 2020, even with the extra funding that has been earmarked for public sector services this year.
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Health news in pictures Long commutes carry health risks Hours of commuting may be mind-numbingly dull, but new research shows that it might also be having an adverse effect on both your health and performance at work. Longer commutes also appear to have a significant impact on mental wellbeing, with those commuting longer 33 per cent more likely to suffer from depression
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Health news in pictures You cannot be fit and fat It is not possible to be overweight and healthy, a major new study has concluded. The study of 3.5 million Britons found that even “metabolically healthy” obese people are still at a higher risk of heart disease or a stroke than those with a normal weight range
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Health news in pictures Sleep deprivation When you feel particularly exhausted, it can definitely feel like you are also lacking in brain capacity. Now, a new study has suggested this could be because chronic sleep deprivation can actually cause the brain to eat itself
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Health news in pictures Exercise classes offering 45 minute naps launch David Lloyd Gyms have launched a new health and fitness class which is essentially a bunch of people taking a nap for 45 minutes. The fitness group was spurred to launch the ‘napercise’ class after research revealed 86 per cent of parents said they were fatigued. The class is therefore predominantly aimed at parents but you actually do not have to have children to take part
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Health news in pictures 'Fundamental right to health' to be axed after Brexit, lawyers warn Tobacco and alcohol companies could win more easily in court cases such as the recent battle over plain cigarette packaging if the EU Charter of Fundamental Rights is abandoned, a barrister and public health professor have said
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Health news in pictures 'Thousands dying' due to fear over non-existent statin side-effects A major new study into the side effects of the cholesterol-lowering medicine suggests common symptoms such as muscle pain and weakness are not caused by the drugs themselves
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Health news in pictures Babies born to fathers aged under 25 have higher risk of autism New research has found that babies born to fathers under the age of 25 or over 51 are at higher risk of developing autism and other social disorders. The study, conducted by the Seaver Autism Center for Research and Treatment at Mount Sinai, found that these children are actually more advanced than their peers as infants, but then fall behind by the time they hit their teenage years
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Health news in pictures Cycling to work ‘could halve risk of cancer and heart disease’ Commuters who swap their car or bus pass for a bike could cut their risk of developing heart disease and cancer by almost half, new research suggests – but campaigners have warned there is still an “urgent need” to improve road conditions for cyclists. Cycling to work is linked to a lower risk of developing cancer by 45 per cent and cardiovascular disease by 46 per cent, according to a study of a quarter of a million people. Walking to work also brought health benefits, the University of Glasgow researchers found, but not to the same degree as cycling.
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Gene therapy for a variant called ADA-SCIDS is available in Europe. But a cure for the most common form – X-linked SCID, which is only found in boys – had remained elusive.
The disease drew national attention in the 1970s with the case of David Vetter .
News outlets chronicled his life as he grew up cocooned in plastic.
His story spawned the 1976 John Travolta movie “The Boy in the Plastic Bubble.”
And even after David Vetter’s death, something about the disease’s vulnerable isolating effects kept it in the national consciousness, making a famous cameo in a “Seinfeld” episode and becoming the premise of a panned 2001 Jake Gyllenhaal movie, Bubble Boy.
Until now, the most effective therapy for SCID had been transplanting blood-forming stem cells from a tissue-matched sibling donor, but most patients lack such donors.
Half-matched and unrelated donors have also proved lifesaving but often resulted in complications.
The first successful gene therapy trial, in 2000 by French doctors, gave many researchers and patients hope that they could fix the molecular underpinnings of the disease instead of simply treating its symptoms.
But when leukemia was found in some of those patients, it temporarily halted gene therapy trials in America and much of the world and sent dispirited researchers searching for answers.
“The leukaemia stopped the field for a long time and rightfully so, because people had to figure out what went wrong,” said Jordan Orange, a paediatric immunologist at Columbia University, who was not involved in the St Jude study but helped develop a gene therapy for another immunodeficiency disease called Wiskott-Aldrich.
“But that led us to the point now where we’re finally beginning to see actual cures to incurable conditions.”
The Washington Post
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