03/12/2025
๐๐,๐๐๐ ๐ฏ๐ฎ๐ฏ๐ถ๐ฒ๐ ๐ท๐ผ๐ถ๐ป ๐ด๐ฟ๐ผ๐๐ป๐ฑ๐ฏ๐ฟ๐ฒ๐ฎ๐ธ๐ถ๐ป๐ด ๐๐ฒ๐ป๐ฒ๐ฟ๐ฎ๐๐ถ๐ผ๐ป ๐ฆ๐๐๐ฑ๐
Genomics Englandโs Generation Study has now enrolled 25,000 babies - a major milestone in one of the worldโs largest research studies of its kind to explore how whole genome sequencing could be used to screen newborns for rare genetic conditions. This landmark achievement brings us closer to understanding how genomics could help diagnose treatable rare conditions earlier, improve outcomes for families, and shape the future of care for people with genetic conditions.
The Generation Study, which is being run in partnership with the NHS, is a pioneering research study exploring how whole genome sequencing could be used to screen newborn babies for over 200 rare genetic conditions. These conditions typically appear in early childhood, and care can start early within the NHS if they are identified soon enough. By diagnosing these conditions sooner, the study aims to improve health outcomes and quality of life for affected children and their families.
If you are interested to know more about the study please go to their website
โOur decision to join the Generation Study has changed Freddieโs life phenomenally. We were told that the first 6 months is vital in diagnosing and treating the condition. Thereโs no telling at what point it would have been discovered if we hadnโt taken part and what might have happened.โ