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 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 »