Nick Lench is appointed as Trustee of Epilepsy Research UK
Congenica Co-Founder and Chief Scientific Officer, Nick Lench, has been appointed to the Board of Trustees of Epilepsy Research UK (ERUK).
Automation and AI improve driving improvements in genomic testing
At ASHG 2021 Congenica demonstrated how automation and AI are two key platform features delivering improvements and results in genomic data analysis.
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.
Enabling Genomic Medicine 2021
EGM 2021 featured some of the world's leading experts in precision medicine discussing the latest innovations in genomics. Watch their presentations here.
Rare disease as a jigsaw - Timothy Syndrome
Guest blogger Sophie Muir, mother, Chair & Founder of Timothy Syndrome Alliance TSA talks about her experiences of this rare disease
Expanding our understanding of skeletal dysplasia
Clinical case study shows how genomic data analysis has expanded our understanding of rare diseases of bone development.
Ensuring parents have a voice in their child’s care
Guest blogger Adam Clatworthy talks about the importance of parents and patients working together with clinicians to help deliver diagnoses.
The long road to diagnosis: Pitt-Hopkins Syndrome
This week, we welcome Sue Routledge as guest blogger. Sue is mother to mother to Christopher, who has Pitt-Hopkins syndrome, and his brothers as well as Chair / Co-founder of Pitt Hopkins UK.
Congenica is Joint Winner of MIT Solve The Horizon Prize
Congenica is announced as a joint winner of MIT Solve Horizon Prize
Accelerating NGS analysis at ESHG 2021
Congenica content from ESHG including accelerating NGS analysis satellite session and posters on skeletal dysplasia and automation in a rare disease lab.