Updates on key developments in genomics
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Sequencing Covid-19: 1 million genomes
As the UK reaches a mega sequencing milestone, we look at how the data could be used to better prepare us for the future
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GEP 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
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Epilepsy and the genome
We know that epilepsy can have a genetic cause, but there is still much to discover. We explore findings from two new studies to learn more
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RNAi: a new approach to combat cholesterol
The new cholesterol drug inclisiran is currently making headlines after being approved for use in the NHS, but how does it work?
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New data diversity initiative launches
This week, we look at a transformative programme that aims to rapidly make genomic datasets more representative
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Screening the healthy for monogenic variants
As the NHS moves towards a preventative healthcare strategy, will genomic screening for healthy people become more common?
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Parkinson'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
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Cell-free DNA: detecting disease
We look at how cfDNA could be used to diagnose LMD – a life-threatening condition that is currently difficult to detect
![Render of Covid-19 virus cells and DNA helices](https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2020/12/Covid19_1350x400-450x150.jpg)
Covid-19: susceptibility and the genome
An international collaboration has discovered new links between our genome and the variable onset and severity of Covid-19
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NHS targets better diabetes care with genomic testing
New initiative aims to find thousands of people with a rare, inherited form of diabetes
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Newborn 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
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PCR: more than just a Covid test
An old friend has been thrust into the limelight. We take a look at how PCR works and its place in Covid testing and beyond
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Trial underway for hATTR therapy
The novel ‘one off’ treatment could change the lives of those living with the condition
![3D render of cancer cells](https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2021/08/Cancer-cell_1350x450-450x150.png)
Combating cancer: POLQ inhibitors
We explore a novel treatment that could help treat cancer by preventing DNA repair in tumours
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Developmental disorder variants found in non-coding genome
This week, we explore new findings that link variants in the non-coding region of the genome to developmental disorders
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NHS to launch Innovative Medicines Fund
We look at an initiative that could change the lives of people with rare diseases by giving them access to cutting-edge treatments
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New platform to strengthen researcher-patient link
We explore how the platform will benefit its users and the steps in place to make sure it is ethical
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SCID gene therapy trial publishes results
This week, we look at a significant breakthrough for the treatment of severe combined immunodeficiency
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DTC testing: time to step in?
As DTC testing becomes more accessible and popular than ever, we ask whether more regulatory work could – and should – be done
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Start the conversation: genomics in health visiting
As part of this year's #GenomicsConversation week, we talk to Sally Shillaker about the vital role genomics plays in health visiting practice
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Genomics in practice: ‘Midwives should explore opportunities’
In our third Q&A for the #GenomicsConversation, we talk to midwife Charlotte Rose about why she was inspired to build her career in genomics