Blog articles
Gene therapy – a new approach for paediatric hearing loss
A new gene therapy is being trialled for children with a rare form of deafness caused by variants in the OTOF gene
The key principles behind newborn genome screening
The Generation Study will explore the benefits and challenges of sequencing the genomes of 100,000 newborn babies
Genomics England to launch the Generation Study
This winter sees the start of the Generation Study, which will explore the benefits and challenges of sequencing the genomes of 100,000 newborns
Children at centre of new genomics health research programme
New genomic bioresource D-CYPHR seeks to decode the DNA at the heart of childhood disease
New genetic condition to be included in UK newborn screening
The rare condition tyrosinaemia type 1 may soon be included in national newborn blood spot screening
A ground-breaking new gene therapy has saved the life of its very first NHS patient
A baby girl is showing no further signs of the fatal genetic disorder metachromatic leukodystrophy after treatment with an exciting new gene therapy
News articles
New GeNotes specialty: Paediatrics is now live!
The flagship GeNotes resource continues to grow at pace with the addition of more than 100 new resources for paediatrics
GeNotes: Fetal and Women’s Health now live!
National Genomics Education has added a new speciality to its flagship educational resource
Join in with the month of genomics
Announcing an innovative new collaboration aimed at increasing awareness of genomics and understanding of its relevance to clinical care
Events
Regional Midwives in Genetics and Genomics Network
RegMiGGs.net unites east England midwifery professionals to advance genomics in maternity care, with talks on NIPT, antenatal screening inequalities and educational updates
LinkAGE Webinar 6: How Kaftrio changed the world of cystic fibrosis
In this sixth webinar in the gene-directed therapies series, Dr Balfour-Lynn will discuss CFTR modulators and how they have changed the world of cystic fibrosis
LinkAGE Webinar 5: Targeting chemotherapy in paediatric oncology
Welcome to the fifth of our series of expert webinars. In this webinar Dr Sam Behjati will discuss how genomics can be used to target chemotherapies