A major DNA testing project has helped doctors diagnose two children who have been plagued by mystery illnesses.

The 100,000 Genomes Project will sequence the DNA and genes of 70,000 people in a bid to find out more about rare diseases, improve diagnosis and hopefully develop new medical treatments in the future.

Launched in late 2012, the five-year project has now led to the families of two four-year-olds finally finding out what is wrong with their children. The little girls are the first children to be diagnosed as a result of the initiative, although some adult participants were given a diagnosis last year.

Georgia Walburn-Green and Jessica Wright took part in the project in the hope of finding answers about their rare and undiagnosed genetic conditions.

Georgia’s parents first noticed there was something wrong when she was just one. Her development is delayed, she is unable to talk and she also has problems with her sight and kidneys.

Standard genetic tests did not give the family any answers, leaving them baffled as to what was wrong. They signed up to take part in the 100,000 Genomes Project and scientists started studying Georgia’s genome to find out more about her condition.

Her mother Amanda said: “Being told that Georgia had an undiagnosed condition was one of the hardest points of our lives as we felt like we were alone. As soon as we were on the project, I felt a huge sense of relief.

“I felt that they now had all the information needed to look at the full picture and it just required someone to decipher and understand it. They had her genome and so the answers had to be there somewhere.”

Project solves genetic riddle

After almost a year Professor Maria Bitner-Glindzicz, a consultant in clinical genetics at Great Ormond Street Hospital, rang Georgia’s parents to tell them they had found a mutation in a single gene, which was likely to have caused Georgia’s problems.

Amanda said: “It’s going to take time to find out more about this gene and what it controls and affects but I’m sure they’ll find more out. Medicine is not yet at the stage to offer genetic therapy but we have come so far in Georgia’s lifetime already that who knows what the future holds.”

Jessica Wright also received a diagnosis through the project. Like Georgia, she was slow to develop and when she was one, Jessica started having seizures.

Two years after providing a blood sample to the 100,000 Genomes Project, scientists discovered a genetic mutation had caused Glut1 deficiency syndrome, a disorder which affects the nervous syndrome and results in slow brain growth.

Jessica’s mother, Kate Palmer, said: “Now that we have this diagnosis there are things that we can do differently almost straight away. Her condition is one that has a high chance of improvement on a special diet, which means that her medication dose is likely to decrease and her epilepsy may be more easily controlled.

“Hopefully she might have better balance so she can be more stable and walk more. She’s now four years old still looks like a wobbly toddler trying to move around. A diagnosis also means that we can link up with other families who are in the same boat and can offer support.”

NHS Chief Scientific Officer Professor Sue Hill, OBE said: “This is an excellent example of how whole genome sequencing can finally provide the answers that families have been seeking out for years. These new insight sets them free to make decisions about the treatment options for their child and how they move forward with future plans for their family.”

DNA testing is a great way about finding out more about a person, their heritage and their biological relationships. AlphaBiolabs offers a wide range of DNA testing services both for the general public and official organisations including the Child Support Agency and the family courts.

We also offer a single genetic profile test for people who want a record of their DNA profile.

Learn About The 100,000 Genomes Project (Video)