World first… as Victoria freed of sickle cell disease
SCIENTISTS in the US discovered a cure for one of the most common blood diseases, which affects 14,000 Britons.
Thanks to a pioneering gene-editing technique, 34-year-old mother-of-three Victoria Gray from Mississippi became the first in the world to be free from sickle cell disease – a deadly genetic condition.
Sickle cell disease alters the shape of red blood cells, causing them to get stuck inside blood vessels.
The lack of oxygen-rich red cells flowing around the body results in agonising pain and irreversible damage to organs.
Treatments involve regular blood transfusions and drugs, but sufferers with some types of the disease often do not make it through their 40s.
The breakthrough came thanks to Nobel Prizewinning CRISPR technology, which copies a technique used by bacteria to spot and destroy specific areas of
DNA, like scissors that snip out sections of genetic code. Scientists from Nashville removed cells from bone marrow – the spongy tissue inside bones – and used CRISPR to edit a gene to encourage them to produce a protein called haemoglobin.
Haemoglobin affects the shape of red blood cells – and in sickle cell disease, defective haemoglobin is what forces them into a ‘sickle’ shape.
The healthy, haemoglobinrich cells were then transferred into Victoria’s body, replacing nearly half of the defective ones.
Her symptoms soon vanished and scientists believe she is effectively cured. She said: ‘It’s wonderful. It’s the change I’ve been waiting on my whole life.’
Dame Sally Davies, the former UK chief medical officer and an expert in sickle cell disease, said she was thrilled that the technique could soon offer hope to many sufferers.
analysed by a computer algorithm to determine whether the genetic material has come from tumours.
The trial involved samples of blood plasma – the part of the blood which carries cells around the body – collected from more than 600 people in China.
Roughly 190 individuals went on to be diagnosed with either stomach, colorectal, liver, lung or oesophogeal cancer within four years of the blood being collected by researchers.
Professor Kun Zhang from the University of California, who authored the paper, said: ‘ The ultimate goal is performing blood tests like this during annual health check-ups.
‘ But the immediate focus is people at higher risk, with a family history.’
Several NHS specialist centres are now trialling the use of such liquid biopsies, and experts hope the tool will be available within the next few years.
A SIMPLE SWAB THAT CAN SAVE PREMATURE BABIES
ABOUT 60,000 babies are born prematurely in the UK every year, putting them at risk of sepsis, cerebral palsy, lung problems and lifelong developmental issues. But a new swab test given to pregnant women can predict the likelihood of an early labour, which could save thousands of babies’ lives.
The test measures the presence of a protein called fetal fibronectin, which acts as a glue to fix the sac containing the developing baby to the womb lining.
High levels of this protein are released into the birth canal if a woman is likely to give birth early, the researchers found.
The team, from Tommy’s London Research Centre at Guy’s and St Thomas’ Hospital, made the discovery by studying women pregnant with twins.
Half of twins are delivered early, with ten per cent born before 32 weeks – the full term of a pregnancy is about 39 weeks. Three-quarters of women who had high levels of the protein gave birth before 30 weeks.
Researchers found that the swab readings were a far better predictor of early labour than the current NHS method of measuring the length of the cervix.
Sally Campbell, 42, was 27 weeks pregnant when her swab test came back positive for fetal fibronectin. Doctors gave her an injection of steroids to encourage baby’s development.
Sally went home after the injection and ended up carrying her daughter, Missy, to term, who was perfectly healthy.
Sally said: ‘I don’t think she’d be here if it wasn’t for the test.’