Congenica – BioScience Managers

Congenica launches new application to enable faster analysis of epilepsy and neurodevelopmental disorders

14th January 2020/in Congenica

Link to Full Article Cambridge, United Kingdom – 14th January, 2020 – Congenica, a digital health company enabling rapid analysis of complex genomic data to improve disease characterization and diagnosis, today announced the launch of Congenica Neuro™, a new application on its clinical decision support platform that facilitates faster, more accurate and comprehensive characterization and diagnosis of epilepsy and […]

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

3rd December 2019/in Congenica

Link to Full Article Cambridge, United Kingdom – 3rd December, 2019 – Congenica Ltd, a digital health company enabling rapid analysis of complex genomic data to improve disease characterization and diagnosis, has announced the publication of a new study on the re-annotation of developmental and epileptic encephalopathy-associated genes with significant clinical implications. Developmental and epileptic encephalopathies are a group of rare, […]

A fast and reliable method to reach a conclusive diagnosis of MYH9-related disorder

12th November 2019/in Congenica

Link to Full Article Congenica platform provides variant review and assessment to support conclusive diagnoses for patients with complex and commonly misdiagnosed bleeding disorders in a large multicenter genomic study. MYH9-related disorder (MYH9-RD) is a complex condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney disease, and cataracts. The complexity […]