The UK's 100,000 Genomes Project, set up to look at the genetics of cancer and rare disease and funded by the government to the tune of £2m, has achieved two major breakthroughs.
Four-year-old Georgia Walburn-Green and Jessica Wright both suffer from rare genetic conditions which so far doctors had been unable to diagnose.
Georgia cannot see and has development issues. She also suffers from a kidney condition and a disorder meaning that she cannot speak. Her parents have lived through years of uncertainty about how her condition will develop.
Jessica suffers from seizures and failed to develop properly.
Doctors and scientists working within the Genomes Project at Great Ormond Street Hospital were attempting to spot the difference between the three billion base pairs which make up Georgia's and her parent's DNA.
They were able to identify a genetic abnormality, gene KDM5b.
The hope is that there will eventually be a therapy for this and Georgia's treatment continues. Her parents have also been assured that the mutation came about spontaneously and there would not be a similar risk if they were to have more children.
Two years after her parents provided blood samples for the project, a mutation in one of Jessica's genes was identified. It was discovered that she was experiencing GLUT1 Deficiency Syndrome meaning her body is unable to transport sugar into her brain cells. This means that her brain is starved of energy. Doctors have worked out that a high fat diet means that the brain has an alternative energy source and so Jessica will need less medication for her epilepsy.
The diagnosis will bring huge relief for Jessica's family, who have faced years of uncertainty, not knowing what was wrong with her.
The aim behind the project was to make the UK a world leader in genetics research. The starting point was to sequence the genetic codes of people with cancer and rare diseases – with the target being 100,000 people sequenced.
Great Ormond Street is just one of the centres around the UK taking part in the scheme. Other major breakthroughs occurred as a result of Newcastle University and Hospitals who diagnosed 57 year old Leslie Hedley who suffered from high blood pressure causing kidney failure. Other members of his family had sadly died from the condition. Leslie's worry was that his daughter had also inherited the condition.
Doctors managed to diagnose a genetic variant, meaning drugs can control the condition and Leslie's daughter will receive regular monitoring.
Fieldfisher has expertise in dealing with genetics negligence. Our team has recently won the right to appeal a case that seeks to redefine the complicated relationship between a doctor, his patient and that patient's relatives when it comes to genetic disease.