https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2021/12/diagnostic-odyssey-maze-strip.jpg 264 800 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2021-12-17 15:40:272021-12-17 15:36:07100,000 Genomes Project 2021 update: rare disease
How has rare disease diagnosis and treatment improved in light of data gathered from the 100,000 Genomes Project? Find out in the second part of our series…
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2021/12/sequencing-circle-1350x450.png 450 1350 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2021-12-10 16:06:372021-12-17 15:59:27100,000 Genomes Project 2021 update: cancer
In the first instalment of a two-part series, we look at how the 100,000 Genomes Project continues to impact cancer care
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2020/07/Mito_1350x450.jpg 450 1350 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2021-12-05 08:30:262021-12-03 17:32:29Diagnosing mitochondrial conditions: a WGS breakthrough
Mitochondrial conditions can be difficult to diagnose – but why, and how can genomic technology help?
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2021/12/Kidney-people_1350x450-01.png 450 1350 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2021-12-03 16:51:562021-12-03 16:51:56Polycystic kidney disease and genomic testing
We explore genomics’ role in the cause, diagnosis and treatment of a complex kidney condition
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2021/11/Redbloodcells_1350x450.png 450 1350 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2021-11-19 17:01:412021-11-19 17:01:41NICE approves RNAi therapy for porphyria
This week, we look at the latest gene silencing treatment approved by NICE – this time for an acute form of porphyria
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2021/11/Test-tube-DNA_1350x450.jpg 450 1350 Aine Kelly /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Aine Kelly2021-11-11 07:00:172021-11-11 13:25:45World-first study shows WGS improves diagnostic journey
Impressive results make the case for the adoption of whole genome sequencing as "the genetic test of choice for rare disease patients"
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2021/11/Hypertension-aldosterone_1350x450.png 640 1920 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2021-11-05 15:02:592021-11-05 15:14:17Genes, hormones and blood pressure
This week, we explore genomics’ role in primary aldosteronism – a hormone disorder that leads to high blood pressure
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2015/11/DNA-178807611_900px.jpg 303 903 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2021-10-29 14:07:312021-10-29 14:07:31GEP fellow publishes RNA splicing study
Jamie Ellingford and his co-authors explore the potential of computational tools to help us learn more about the messages our genes create
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2021/09/Silhouettes_1350x450.png 450 1350 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2021-09-24 16:14:292021-09-24 16:14:29Screening the healthy for monogenic variants
As the NHS moves towards a preventative healthcare strategy, will genomic screening for healthy people become more common?
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2021/03/brain-activity-web.jpg 450 1350 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2021-09-16 17:28:412021-09-17 07:46:03Parkinson's disease: understanding the cause
In light of new research, we explore the role genes and their products can play in the onset of Parkinson’s disease
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2021/08/Diabetes-glucose-1350x450px.jpg 450 1350 Aine Kelly /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Aine Kelly2021-08-31 15:43:172021-08-31 15:53:07NHS targets better diabetes care with genomic testing
New initiative aims to find thousands of people with a rare, inherited form of diabetes
https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2020/09/newborn-baby-feet-1350x450.jpg 450 1350 Ben Armstrong /wp-content/uploads/2018/06/gep-white-logo-sm-v2.png Ben Armstrong2021-08-27 12:36:542021-08-25 13:38:27Newborn screening: time for a genomic approach?
This week, we explore how genomics could help expand the newborn screening programme to test for many more genetic conditions