Latest News and Blogs

Lea has BHD and shares her empowering story with us for Rare Disease Day. See Lea's inspirational journey from lung collapse to Ironman in this video.

A new film about the NHS Genomic Medicine Service and how it is benefiting those affected by rare diseases in the UK, both today and in the future.

Professor Philip Beales, Professor Sarah Weckhuysen, and Professor Jozef Gocz discuss the future of precision medicine and answer commonly asked questions.

A look at the barriers to genomics around the world, starting with a webinar in Malaysia, ‘Epilepsy Advocacy: Challenges and Opportunities’.

Being a parent to a rare child is hard enough day to day. What happens when one of the parents is diagnosed with a potentially life-threatening disorder?

Jill Hawkins is founder and president of Fam177A1. an organization she set up following the diagnosis that two of her children have large deletions on their FAM177A1 gene. Here she tells her story. 

Dr Charles Steward comments on a report that considers rare disease patients and explores opportunities for improved testing, diagnosis and treatment. 

Dr Charles Steward speaks to the Progress Educational Trust about “Whole Genome Sequencing at Birth: What Should Be Looked For? What Should Be Fed Back?”.

Guest blogger Alexandra Gaudlap is mother to three children including Raymond, who at a young age was diagnosed with a mutation in gene VAMP2.

Congenica opens the Black Box, following the journey of Karen Lettington and her son George as they are enrolled in the 100k Genomes Project

October 29 marks the first annual Child Neurology Day, launched to raise awareness of those affected by neurological disorders in children.

October 22nd is Phelan-McDermid Awareness Day and 7 year old Sophia shares a film about her big sister with this rare disease.