![Enabling Genomic Medicine 2021](https://blog.congenica.com/hs-fs/hubfs/Recdrings%20now%20availan%3Be.png?width=320&height=192&name=Recdrings%20now%20availan%3Be.png)
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](https://blog.congenica.com/hs-fs/hubfs/Patient%20Advocacy%20%26%20Engagement%20Guest%20blogger.png?width=320&height=192&name=Patient%20Advocacy%20%26%20Engagement%20Guest%20blogger.png)
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](https://blog.congenica.com/hs-fs/hubfs/Expanding%20our%20understanding%20of%20skeletal%20dysplasia.png?width=320&height=192&name=Expanding%20our%20understanding%20of%20skeletal%20dysplasia.png)
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](https://blog.congenica.com/hs-fs/hubfs/Adam%20Clatworthy%2c%20who%20talks%20about%20the%20importance%20of%20parents%20and%20patients%20-%20who%20are%20experts%20in%20the%20complex%20conditions%20and%20symptoms%20of%20rare%20diseases%20that%20they%20live%20with%20-%20working%20together%20with%20clinicians%20to%20he.png?width=320&height=192&name=Adam%20Clatworthy%2c%20who%20talks%20about%20the%20importance%20of%20parents%20and%20patients%20-%20who%20are%20experts%20in%20the%20complex%20conditions%20and%20symptoms%20of%20rare%20diseases%20that%20they%20live%20with%20-%20working%20together%20with%20clinicians%20to%20he.png)
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](https://blog.congenica.com/hs-fs/hubfs/Untitled%20design%20%2816%29.png?width=320&height=192&name=Untitled%20design%20%2816%29.png)
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](https://blog.congenica.com/hs-fs/hubfs/IMT_solution.png?width=320&height=192&name=IMT_solution.png)
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](https://blog.congenica.com/hs-fs/hubfs/Lynsey%20Chediak%20is%20a%20Member%20of%20Congenica%E2%80%99s%20Patient%20Advocacy%20and%20Engagement%20%28PAE%29%20Advisory%20Board%20as%20well%20Head%20of%20Partnerships%20at%20Rarebase%2c%20which%20enables%20rare%20disease%20therapeutic%20discovery%20and%20development.%20Her.png?width=320&height=192&name=Lynsey%20Chediak%20is%20a%20Member%20of%20Congenica%E2%80%99s%20Patient%20Advocacy%20and%20Engagement%20%28PAE%29%20Advisory%20Board%20as%20well%20Head%20of%20Partnerships%20at%20Rarebase%2c%20which%20enables%20rare%20disease%20therapeutic%20discovery%20and%20development.%20Her.png)
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](https://blog.congenica.com/hs-fs/hubfs/Patient%20Advocacy%20%26%20Engagement%20%282%29.png?width=320&height=192&name=Patient%20Advocacy%20%26%20Engagement%20%282%29.png)
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](https://blog.congenica.com/hs-fs/hubfs/Trudy%20Morgan,%20European%20Outreach%20Director%20Glut1%20Deficiency%20Foundation%20and%20Chair,%20Glut1%20Deficiency%20UK%20to%20talk%20about%20her%20personal%20discovery%20of%20Glut1%20deficiency%20syndrome..png?width=320&height=192&name=Trudy%20Morgan,%20European%20Outreach%20Director%20Glut1%20Deficiency%20Foundation%20and%20Chair,%20Glut1%20Deficiency%20UK%20to%20talk%20about%20her%20personal%20discovery%20of%20Glut1%20deficiency%20syndrome..png)
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](https://blog.congenica.com/hs-fs/hubfs/Dr%20Meriel%20McEntagart,%20Consultant%20Geneticist,%20St%20George%E2%80%99s%20University%20Hospitals%20NHS.png?width=320&height=192&name=Dr%20Meriel%20McEntagart,%20Consultant%20Geneticist,%20St%20George%E2%80%99s%20University%20Hospitals%20NHS.png)
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](https://blog.congenica.com/hs-fs/hubfs/Canva%20images/Galia%20Wilson,%20mother%20to%20Arlo,%20a%2013-year%20old%20boy%20with%20Dravet%20Syndrome,%20and%20Chair%20and%20Trustee%20of%20DSUK.png?width=320&height=192&name=Galia%20Wilson,%20mother%20to%20Arlo,%20a%2013-year%20old%20boy%20with%20Dravet%20Syndrome,%20and%20Chair%20and%20Trustee%20of%20DSUK.png)
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](https://blog.congenica.com/hs-fs/hubfs/NorrieDisease2.jpg?width=320&height=192&name=NorrieDisease2.jpg)
Our story of Norrie Disease
We welcome guest blogger Carla Golledge, who shares her story about son Cameron who was born with Norrie disease.