Enabling Genomic Medicine 2021
EGM 2021 featured some of the world's leading experts in precision medicine discussing the latest innovations in genomics. Watch their presentations here.
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
Expanding our understanding of skeletal dysplasia
Clinical case study shows how genomic data analysis has expanded our understanding of rare diseases of bone development.
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.
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.
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 ...
Discovering Glut1 Deficiency Syndrome
In recognition of the first International Glut1 Awareness Day, guest blogger Trudy Morgan from Glut1 Deficiency UK talks about her experiences.
Diagnosing CALFAN syndrome after years of uncertainty
How clinicians used Congenica to diagnose an exceptionally rare condition, providing a diagnosis for a child's medical issues after years of investigation.
Raising awareness of Dravet Syndrome
Galia Wilson and Claire Eldred have provided us with today's article in recognition of International Dravet Syndrome Awareness day, Wednesday 23rd June.
Our story of Norrie Disease
We welcome guest blogger Carla Golledge, who shares her story about son Cameron who was born with Norrie disease.