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
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 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.
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.
Science, genomics hope and a father's love
Congenica’s PAE Lead Charles Steward is guest on ‘Making our Way’ podcast, a place for conversations about some of the toughest and best moments in life.
Congenica contributes to the BIA's Genomics Nation report
Congenica joins the BIA's report looking at the strength, breadth and opportunity of the UK genomics sector for investors, patients and the economy.
Unleash Molecular Superpowers with Next-Generation Genomic Analysis
NGS data analysis software augments molecular medicine powers so more patients can be diagnosed and treated
How we learnt about Menkes Syndrome
For our latest patient guest blog, we welcome Daniel DeFabio, Co-Founder of DISORDER: The Rare Disease Film Festival. Daniel and his wife Tina lost their eldest son Lucas when he was 11 years old to ...
David Atkins welcomes the Government's Life Sciences Sector Vision
A press release from the UK Bio Industry Association (BIA) welcomes the Government's new Life Sciences Sector Vision and quotes Congenica CEO David Atkins