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 a relatively normal birth but his early weeks were challenging; he had trouble feeding and his weight dropped dramatically. He was a ‘floppy baby’ and […]
Whole Genome Sequencing diagnoses Malan Syndrome for Ben Read More »
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, 23, showed a variant change in the CHD5 gene. CHD genes carry out many important functions, including controlling the function of many other genes. They
Genomic testing fills in missing jigsaw pieces for family Read More »
A 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, 9 months old, is a patient at Birmingham Children’s Hospital. Doctors suspected a potential genetic cause for his symptoms, and recommended genetic testing for monogenic
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 for monogenic Inflammatory Bowel Disease (IBD), with the results coming back negative. The project is being delivered by the Central and South Genomic Medicine Service
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.
