Charlott Repschlager

Blood samples have been collected from newborns as Genomics England embarks on its Generation Study. The Generation Study, led by Genomics England in partnership with the NHS, aims to sequence the whole genomes of 100,000 newborns across 40 NHS hospitals to identify treatable rare genetic conditions that present in early childhood (see BioNews 1172). The study has begun at an initial 13 hospitals in England, where more than 500 blood samples have been collected.

A genetic variant known to increase the risk of various cancers, including breast and ovarian cancers, has been linked to infertility in mice. Researchers from Monash University in Melbourne, Australia, used mice to show that inhibiting BRCA1 – a gene that protects against cancer – impacted the litter size and quality of their eggs. Approximately 1 in 350 women have a mutation in their BRCA genes, which increases the risk of developing breast and ovarian cancer.

The downregulation of a normally protective gene drives pancreatic cancer growth and aggressiveness. Researchers from the UK and USA analysed tissue samples from pancreatic cancer patients and healthy people to gain a better understanding of how the regulation of different pathways impacts the development and progression of pancreatic cancer.