Our CHAMP1 journey
A father's story of having a son with a disease so rare that he is only one of 38 kids in the world to be diagnosed with Champ1, and what it means.
Congenica 3.1 - Automating best practices in variant interpretation
Congenica 3.1 release forms part of our ongoing commitment to embedding variant analysis best practices in an automated platform and intuitive workflow.
Dr Charles Steward elected to the ICPGC GC
Congenica’s Patient Advocacy and Engagement lead, Dr Charles Steward, has joined the International Cerebral Palsy Genome Consortium Governance Council.
SCN8A – the needle in the haystack
As part of our Patient Advocacy and Engagement program, we welcome guest blogger Ben Clay, whose daughter Tilly was diagnosed with SCN8A when she was 8.
Exome analysis of cases with skeletal dysplasia
Andrea Haworth at Congenica presented a poster at Rady’s Frontiers in Pediatric Genomic Medicine event that looked at cases of skeletal dysplasia.
Automated variant classification workflows in a rare disease laboratory
Helen Savage presented a poster at Rady’s Frontiers in Pediatric Genomic Medicine highlighting the case for automating standardised analysis of cases.
Congenica assures the clinical safety of NHS genomic analysis
Congenica clinical decision support and NGS data analysis provides a complete Clinical Risk Management Process in compliance with the DCB0129 standard
Redressing the balance: Ring Chromosome 20 Syndrome
Congenica welcomes Allison Watson to talk about her experiences of Ring Chromosome 20 (R(20) - an ultra-rare epilepsy syndrome.
Congenica and Camtech Diagnostics agree strategic partnership to support genomic analysis expansion in Asia
Camtech will market, distribute, sell Congenica rapid NGS data analysis software and clinical decision support in Singapore, Malaysia, Japan, South Korea
Making information about genomic medicine accessible to all
Article by: Alastair Kent OBE FRSA, Chair of the Congenica Patient Advocacy Advisory Board and former Executive Director of Genetic Alliance UK.
Congenica Appoints Jayesh Pankhania as Chief Financial Officer
Digital health company Congenica, providing rapid and accurate genomic data analysis software, appoints new Chief Financial Officer, Jayesh Pankhania.
Seeding a Life-Changing International Genomic Insight Alliance to Treat Pediatric Epilepsy
A webinar with experts from Sanford Health and Congenica discussing the applications of genomics to the research and treatment of pediatric epilepsy.