Jessica, aged 4, recently received a diagnosis of her rare condition. Her diagnosis means a treatment could be recommended too. She took part in the 100,000 Genomes Project, together with her parents, at Great Ormond Street Hospital, part of the North Thames NHS Genomic Medicine Centre. All three donated a small sample of blood and their genomes were sequenced.
Bioinfomaticians analysed Jessica’s genome sequence to find the cause of her condition.
For some families participating in the Project we won’t be able to clearly identify the cause of disease right away. For these families, we will ask experts in our research partnerships to continue looking for the cause. Even when a cause can be identified easily, this knowledge won’t always suggest an immediate treatment or come in time to change patient care. However, identifying the cause can bring peace of mind, help unite families affected by similar genetic conditions, and inform family planning decisions.
Anyone who takes part in the Project will be helping others in the future with the same condition.