Patient Stories
Keep up to date with all the patient stories across the Central and South geography.
- Whole Genome Sequencing diagnoses Malan Syndrome for Ben
The 100,000 Genomes project has seen some outstanding real-life impacts for people like Ben, aged five. We met with Ben’s mum Amanda to learn more about their story. Ben had… Read more: Whole Genome Sequencing diagnoses Malan Syndrome for Ben - Genomic testing fills in missing jigsaw pieces for family
A family in Aylesbury have recently received a rare disease diagnosis, after taking part in the Deciphering Development Disorders (DDD) study and 100,000 Genomes Project. Test results for Emilia Burgess,… Read more: Genomic testing fills in missing jigsaw pieces for family - Usman’s storyA patient in Birmingham has become one of the first in the country to take part in a national genetic testing project, with the results guiding his treatment. Mohammed Usman,… Read more: Usman’s story
- Leo’s story
A family in Surrey are one of the first in the country to receive results from a new genomic testing project. Leo Swarbrick, who is 17 months old, was tested… Read more: Leo’s story - Ilona’s story
Ilona took part in the 100,000 Genomes Project through the Wessex Genomic Medicine Centre. She told us about how genome sequencing led to a breakthrough diagnosis for her critical illness.