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Jan 31, 2025 | 
phgfoundation.org | Rebecca Bazeley
We are getting closer to a world where the debilitating pain and complications of sickle cell disease are a thing of the past. For the 17,500 people in the UK living with this genetic condition, this is becoming a reality, thanks to groundbreaking advancements in gene therapy and, now, the approval by NICE for the use of exagamglogene autotemcel (exa-cel) for sickle cell in the NHS. The innovative treatment exa-cel had previously been approved for treating in the UK in September 2024.
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Jan 31, 2025 | 
phgfoundation.org | Rebecca Bazeley
We are getting closer to a world where the debilitating pain and complications of sickle cell disease are a thing of the past. For the 17,500 people in the UK living with this genetic condition, this is becoming a reality, thanks to groundbreaking advancements in gene therapy and, now, the approval by NICE for the use of exagamglogene autotemcel (exa-cel) for sickle cell in the NHS. The innovative treatment exa-cel had previously been approved for treating in the UK in September 2024.
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Jan 14, 2025 | 
phgfoundation.org | Rebecca Bazeley
Integrating the full range of a person’s physiological health information to build a personalised physiology passport could be key to creating resilient robust healthcare systems in the UK that are sustainable in the longterm, argues a new report from The Physiological Society and PHG Foundation.
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Dec 9, 2024 | 
phgfoundation.org | Rebecca Bazeley
The PHG Foundation warmly welcomes the recently published WHO principles for human genome data collection, access, use and sharing. It is a timely and important contribution to global governance, given increasing interest around the world in improving the scalability and interoperability of genomic data research infrastructures and health systems, and in a changing and uncertain geopolitical climate.
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Dec 3, 2024 | 
phgfoundation.org | Rebecca Bazeley
Gene therapies and AI – is this the next phase of genomic medicine? Increasingly, genomic testing is mainstream, but with this transformation, the focus has shifted to understand how genomics can be more embedded in patient care pathways. The recent British Society of Genomic Medicine Annual Conference 2024 set this tone for the next phase of genomics medicine.
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Nov 29, 2024 | 
phgfoundation.org | Rebecca Bazeley
As a society we produce enormous amounts of data on every aspect of human life from day-to-day activities to life changing medical care. The healthcare, commercial and research communities have a crucial responsibility to manage and utilise personal health information to its full potential to improve the health and wellbeing of individuals and society. Data in its original context is valuable but its power increases greatly in combination with other data sources.
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Oct 29, 2024 | 
phgfoundation.org | Rebecca Bazeley
The Government has now set in motion a process to develop a ‘new 10-year health plan for the NHS’. Among the challenges the NHS faces are the seemingly unmanageable increase in waiting lists and times, a workforce crisis in the care sector generally, and low levels of productivity in the NHS that have not recovered to pre-pandemic levels, with the decline not substantially accounted for by industrial action.
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Aug 7, 2024 | 
phgfoundation.org | Rebecca Bazeley
But developing antisense oligonucleotides for rare diseases is a challengeThe challenges of developing ASO therapies for rare disease patients were discussed at two symposiums I recently attended – the inaugural symposium for the UK Platform of Nucleic Acid Therapy and the Genomics England Research Summit. Few rare diseases get diagnosed, and it is common for diagnosis to take about five years. The rarer the condition, the less chance of diagnosis and the longer it can take.
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Aug 7, 2024 | 
phgfoundation.org | Rebecca Bazeley
The challenges of developing ASO therapies for rare disease patients were discussed at two symposiums I recently attended – the inaugural symposium for the UK Platform of Nucleic Acid Therapy and the Genomics England Research Summit. Few rare diseases get diagnosed, and it is common for diagnosis to take about five years. The rarer the condition, the less chance of diagnosis and the longer it can take.
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Jul 11, 2024 | 
phgfoundation.org | Rebecca Bazeley
Not all patients are benefitting equally from advances in genomic research. Research databases and biobanks underpinning genetic tests and tools are full of data from populations labelled as “European ancestry” limiting the generalisability of research findings. This may mean that studies based on these databases are less able to yield results that are meaningfully transferable to other populations, leading to calls to close what is known as ‘The diversity gap’.
