Two four year old girls with developmental disorders are the first people to benefit from the 100,000 Genomes Project in the United Kingdom. The project was launched in 2014 for the purpose of improving the diagnosis and treatment of rare genetic disorders. Thanks to the project, these two young girls have finally received proper diagnoses to their mystifying medical conditions.
The two girls both received diagnoses last month, putting an end to the years of uncertainty for them and their families. Without the 100,000 Genomes Project, this would not have been possible. The project cost more than $432 million, and it was launched by British Prime Minister David Cameron in 2014. Now, more people with unknown conditions are hopeful that the project can be used to identify more puzzling genetic disorders.
In the two groundbreaking cases, researchers working on the project to compare the DNA from the two girls and their parents in order to discover that they both had a fault in a single gene. By identifying the genetic defects in question, doctors will now be able to conduct tests in other children who display similar traits.
Clinical geneticist at Great Ormond Street Maria Bitner-Glindzicz said, “We’ve got a long way to go before we really understand rare diseases and cancer, but we feel very hopeful that this is the beginning of something powerful and helpful.”
She continued, “People often are concerned about research, they are hesitant about getting involved. But the aim of research is to move forwards and be able to offer better diagnoses and better treatments. We don’t want to be where we are now in 20 years’ time. We want to be further on.”
Thanks to the firm diagnoses, the families affected will be able to receive much needed support through health insurance and special education services. The parents are also now certain that the genetic defects in question were not inherited, but rather developed through a rare mutation. This will give the parents confidence should they decide to try to produce more children.
With the two diagnoses, it is likely that other children with the same mutations will be able to be identified in the near future. For now, the 100,000 Genomes Project will continue to collect blood samples so that it can identify more genetic disorders in the future. It is clear that this project will further work to offer some much-needed answers to many distressed families.
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