rare disease « Central and South Genomics

Whole Exome Sequencing provides answers for Eli and his family

We have seen significant developments in genomics over recent decades, and the science continues to progress at a rapid rate.…

From Research to Reality: What The Generation Study means for paediatric care

The Generation Study is one of the largest genomic research programmes currently taking place at selected sites across England. Using…

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…

More Than You Can Imagine: Genomics and Rare Disease

Join Central and South Genomics for an insightful webinar in recognition of Rare Disease Day, where we bring together patients,…