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
Congenica announced as a finalist for MIT Solve’s Horizon Prize
Congenica has been selected as a finalist for the prestigious Horizon Prize, powered by MIT Solve.
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.
Automating Clinical Genomic Analysis & Reporting for Rapid NGS Results
With the increasing access to exome and genome testing the interpretation of this data is taking longer and longer.
Congenica signs distribution agreement with ATC Healthcare in Turkey
Congenica announces new distribution agreement with ATC Healthcare, a Turkish business investing in advanced tech in molecular diagnosis & life sciences.
Living with a rare disease in perspective: Lynsey’s Rare Journey
Lynsey Chediak is on Congenica’s PAE Advisory Board and Head of Partnerships at Rarebase. She also lives with a rare, genetic joint disease arthrogryposis.