--- title: Recent Posts | Blog (6) description: Blog | (6) --- - [Our Customers and Partners](http://www.congenica.com/our-customers) - [Our Product Portfolio](http://www.congenica.com/congenica-products) - **Inherited Diseases** - [Rare Disease](http://www.congenica.com/congenica-rare-disease) - [Inherited Cancer](http://www.congenica.com/congenica-inherited-cancer) - [Prenatal Health](http://www.congenica.com/congenica-prenatal) - [Carrier Screening](http://www.congenica.com/congenica-carrier-screening) - [Neurodevelopmental Disorders](http://www.congenica.com/congenica-neuro) - **Somatic Oncology** - [Solid Tumours](http://www.congenica.com/congenica-oncology) - **Pathogen** - [Pathogen Surveillance](http://www.congenica.com/congenica-pathogen-surveillance) - [Our Services](http://www.congenica.com/congenica-services) - [Clinical Interpretation Services](http://www.congenica.com/congenica-clinical-interpretation-services) - [Professional Services](http://www.congenica.com/professional-services) - [Customer Support](http://www.congenica.com/customer-support) - [Pharma Services](http://www.congenica.com/pharma-services) - Resources - [Publications](http://www.congenica.com/publications) - [Supporting materials](http://www.congenica.com/resources) - [News](https://blog.congenica.com/) - [Events and webinars](http://www.congenica.com/events-webinars) - [About us](http://www.congenica.com) - [Leadership Team](http://www.congenica.com/leadership) - [Quality](http://www.congenica.com/quality) - [Investors](http://www.congenica.com/investors) - [People and Vacancies](http://www.congenica.com/people) - [Contact us](http://www.congenica.com/contact) Login ##### Please select your location and reference genome: [America - GRCh37](https://us-37.congenica.com/) [America - GRCh38](https://us-38.congenica.com/) [Europe, Middle East, Africa - GRCh37](https://eu-37.congenica.com/) [Europe, Middle East, Africa - GRCh38](https://eu-38.congenica.com/) # Latest News and Blogs ![SCN8A – the needle in the haystack ](https://blog.congenica.com/hs-fs/hubfs/tilly%20crosby%20beach-1.jpg?width=320&height=192&name=tilly%20crosby%20beach-1.jpg) 4/30/2021 #### [SCN8A – the needle in the haystack ](https://blog.congenica.com/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](https://blog.congenica.com/hs-fs/hubfs/Canva%20images/Exome%20analysis%20of%20prenatal%20and%20postnatal%20cases%20referred%20with%20skeletal%20dysplasia%20an%20overview%20of%20genomic%20and%20phenotypic%20findings-1.png?width=320&height=192&name=Exome%20analysis%20of%20prenatal%20and%20postnatal%20cases%20referred%20with%20skeletal%20dysplasia%20an%20overview%20of%20genomic%20and%20phenotypic%20findings-1.png) 4/28/2021 #### [Exome analysis of cases with skeletal dysplasia](https://blog.congenica.com/exome-analysis-of-prenatal-and-postnatal-cases-referred-with-skeletal-dysplasia-an-overview-of-genomic-and-phenotypic-findings) 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](https://blog.congenica.com/hs-fs/hubfs/Canva%20images/auditing%20th%20impact%20of%20automating%20variant%20classifiaction.png?width=320&height=192&name=auditing%20th%20impact%20of%20automating%20variant%20classifiaction.png) 4/28/2021 #### [Automated variant classification workflows in a rare disease laboratory](https://blog.congenica.com/automated-variant-classification-workflows-maintain-quality-standards-support-standardisation-and-reduce-turn-around-times-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](https://blog.congenica.com/hs-fs/hubfs/Canva%20images/Canva%20Design%20DAEb0qVkEFM.png?width=320&height=192&name=Canva%20Design%20DAEb0qVkEFM.png) 4/16/2021 #### [Redressing the balance: Ring Chromosome 20 Syndrome](https://blog.congenica.com/redressing-the-balance-ring-20) 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 ](https://blog.congenica.com/hs-fs/hubfs/alastair_kent.png?width=320&height=192&name=alastair_kent.png) 4/9/2021 #### [Making information about genomic medicine accessible to all ](https://blog.congenica.com/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](https://blog.congenica.com/hs-fs/hubfs/xtalks%20snip.png?width=320&height=192&name=xtalks%20snip.png) 4/1/2021 #### [Seeding a Life-Changing International Genomic Insight Alliance to Treat Pediatric Epilepsy](https://blog.congenica.com/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](https://blog.congenica.com/hs-fs/hubfs/Anne-Karin%20Kahlert_%20Kaiserslautern.jpg?width=320&height=192&name=Anne-Karin%20Kahlert_%20Kaiserslautern.jpg) 3/31/2021 #### [Institute of Immunology and Genetics in Kaiserslautern selects Congenica to accelerate its whole exome sequencing](https://blog.congenica.com/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](https://blog.congenica.com/hs-fs/hubfs/Adam_clatworthy(epilepsey)_children.jpg?width=320&height=192&name=Adam_clatworthy(epilepsey)_children.jpg) 3/26/2021 #### [Why my five-year-old daughter is my inspiration as we fight to understand her sister’s epilepsy](https://blog.congenica.com/why-my-five-year-old-daughter-is-my-inspiration-as-we-fight-to-understand-her-sisters-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](https://blog.congenica.com/hs-fs/hubfs/Rare%20Disease%20Day%202021.png?width=320&height=192&name=Rare%20Disease%20Day%202021.png) 2/24/2021 #### [Rare Disease Day 2021 - Live Blog](https://blog.congenica.com/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](https://blog.congenica.com/hs-fs/hubfs/Website%20Blog%20Banner.png?width=320&height=192&name=Website%20Blog%20Banner.png) 2/24/2021 #### [Achieving the highest diagnostic yield possible with phenotype-based prioritization of variants](https://blog.congenica.com/phenotype-based-prioritization-of-variants-with-exomiser) 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](https://blog.congenica.com/hs-fs/hubfs/Congenica-rare-disease-facts.png?width=320&height=192&name=Congenica-rare-disease-facts.png) 2/22/2021 #### [Why a diagnosis is so important for rare disease patients](https://blog.congenica.com/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](https://blog.congenica.com/hs-fs/hubfs/Patient%20Advocacy%20and%20Engagement.jpg?width=320&height=192&name=Patient%20Advocacy%20and%20Engagement.jpg) 1/14/2021 #### [Congenica Launches Patient Advocacy and Engagement Advisory Board](https://blog.congenica.com/congenica-launches-patient-advocacy-and-engagement-advisory-board) Congenica, today announces the launch of a Patient Advocacy and Engagement Advisory Board. ##### Congenica is available as a CE Marked IVD clinical decision support platform for clinical diagnostic use for inherited genetic disorders in the UK and EU, Iceland, Lichtenstein, Norway, Switzerland and Turkey. In all other countries, ensuring compliance with relevant local, national and international clinical laboratory regulations is the responsibility of the laboratory. - [Privacy Policy](http://www.congenica.com/privacy-policy) - [Cookie Policy](http://www.congenica.com/cookie-policy) Log in to Congenica ##### Please select your location and reference genome: [America - GRCh37](https://us-37.congenica.com/) [America - GRCh38](https://us-38.congenica.com/) [Europe, Middle East, Africa - GRCh37](https://eu-37.congenica.com/) [Europe, Middle East, Africa - GRCh38](https://eu-38.congenica.com/) ![CE](https://blog.congenica.com/hs-fs/hubfs/CE.png?width=80&height=80&name=CE.png) ![ISO-27001](https://blog.congenica.com/hs-fs/hubfs/ISO-27001.jpg?width=80&height=80&name=ISO-27001.jpg) ![TR-Testmark_9000030872_EN_2024_CMYK](https://blog.congenica.com/hs-fs/hubfs/2023%20website%20images/TR-Testmark_9000030872_EN_2024_CMYK.png?width=80&height=80&name=TR-Testmark_9000030872_EN_2024_CMYK.png) ![HIPAA Compliant](https://blog.congenica.com/hs-fs/hubfs/HIPAA%20Compliant.png?width=80&height=80&name=HIPAA%20Compliant.png) Copyright © 2026 Congenica Ltd. Company number: 8273616 Registered in England and Wales.