The Impact of NHS Genomics Medicine Service on Rare Disease
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.
Hopes for the future of Precision Medicine
Professor Philip Beales, Professor Sarah Weckhuysen, and Professor Jozef Gocz discuss the future of precision medicine and answer commonly asked questions.
Added fear of mortality for rare caregivers
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?
Bringing genomics into the heart of healthcare
Christina Waters, SVP of Global Genomic Insights and Solutions, asks why aren't there better disease therapies out there?
Rare disease and diagnosis in 2021
Dr Charles Steward comments on a report that considers rare disease patients and explores opportunities for improved testing, diagnosis and treatment.
A Ray of Sunshine
Guest blogger Alexandra Gaudlap is mother to three children including Raymond, who at a young age was diagnosed with a mutation in gene VAMP2.
Opening the Black Box: Telling the Story of a Genomic Diagnosis
Congenica opens the Black Box, following the journey of Karen Lettington and her son George as they are enrolled in the 100k Genomes Project
Congenica named as genomic analysis platform in ‘Impact of the 100,000 Genomes Pilot – Preliminary Report’ in the New England Journal of Medicine
Congenica named in Impact of the 100k Genomes Pilot on rare disease diagnosis in healthcare publication in the New England Journal of Medicine
100k Genomes Pilot on Rare Disease Diagnosis in Healthcare
Co-author reviews the 100,000 Genomes Pilot on rare disease diagnosis in healthcare – Preliminary Report, published in New England Journal of Medicine
Let's talk cerebral palsy on Child Neurology Day
October 29 marks the first annual Child Neurology Day, launched to raise awareness of those affected by neurological disorders in children.
Lean on me - my big sister with Phelan-McDermid Syndrome
October 22nd is Phelan-McDermid Awareness Day and 7 year old Sophia shares a film about her big sister with this rare disease.
Grappling with my daughter’s epilepsy diagnosis
Madeleine Oudin's daughter Margot was found to have SCN8A mutation causing epilepsy. Here she tells her story as both a scientist and mother.