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.
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.
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.
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.
Institute of Immunology and Genetics in Kaiserslautern selects Congenica to accelerate its whole exome sequencing
Congenica announces a new contract with the Institute of Immunology and Genetics, a leading molecular genetic laboratory in Kaiserslautern, Germany
Why my five-year-old daughter is my inspiration as we fight to understand her sister’s epilepsy
March 26 is #Purpleday, an international awareness day that aims to get people talking about epilepsy and raise awareness of the condition. Congenica welcomes guest blogger Adam Clatworthy to tell ...
Rare Disease Day 2021 - Live Blog
The main objective of Rare Disease Day is to raise awareness amongst the public & decision-makers about rare diseases and their impact on patients' lives.
Achieving the highest diagnostic yield possible with phenotype-based prioritization of variants
Genomic sequencing has the potential to rapidly analyze critically ill babies and children and also to predict a response to infectious diseases and potential therapeutic compounds.
Why a diagnosis is so important for rare disease patients
Maybe you are an aunt or uncle of a child or may have friends who have children. Whatever the relationship you have, children are life-changing.
Congenica Launches Patient Advocacy and Engagement Advisory Board
Congenica, today announces the launch of a Patient Advocacy and Engagement Advisory Board.