Key Highlights:
- SynaptixBio calls for new genetic screening programme, the Generation Study, to be extended to test for untreatable conditions.
- The study will offer whole genome sequencing to newborns using their blood samples to test for over 200 rare genetic conditions.
- So far, 13 NHS hospitals across the country have started collecting blood samples, with plans to scale up to around 40.
Oxford-based SynaptixBio is urging the expansion of the new genetic screening programme - led by Genomics England and the NHS - to include untreatable conditions.
Although SynaptixBio, which is developing a therapy for a rare, deadly, and currently incurable disease, welcomes the programme, the company believes it falls short by only screening for conditions with existing NHS treatments.
The new programme, called the Generation Study, has been welcomed by Dan Williams, CEO at SynaptixBio, but he noted: “This will undoubtedly mean less suffering for many, which is fantastic, but it is currently limited to finding diseases for which there is already an approved treatment on the NHS."
He believes that early diagnosis shortly after birth would 'still help enormously' even if 'no treatment is currently available' as they could be directed to the appropriate support.
“The hard work has been done in setting up the screening programme, so now we hope it will be extended to use the full breadth of its capabilities," Williams added.
“Rare diseases are often devastating for the families of those affected, not least because the long diagnostic journey arising from a late or missed diagnosis can cause those families to miss out on access to vital care and support services.”
The Generation Study is led by Genomics England, part of the Department of Health and Social Care, in partnership with NHS England. It will offer whole genome sequencing to newborns using their blood samples to test for over 200 rare genetic conditions.
Up to 100,000 newborns will be screened in England with the goal of providing early treatment before symptoms appear, preventing complications due to late diagnosis.
So far, 13 NHS hospitals across the country have started collecting blood samples, with plans to scale up to around 40.
SynaptixBio has highlighted that this study will not replace routine blood spot screening, which continues to test newborns for nine rare conditions, so all newborns will still be offered this.
Williams added: “Early identification of treatable conditions can help keep children out of hospital, and lead better lives, so this is a great step forward.
“Our work is focused on finding a therapy for a currently incurable rare, and deadly, disease. Until therapies are available on national health services, the earliest possible identification of genetic conditions should be the priority.”
SynaptixBio was recently awarded a £2 million BioMedical Catalyst grant from Innovate UK to support first-in-human clinical trials of its therapeutic targeting H-ABC, a rare, neurodegenerative disease that affects mainly babies and young children. This follows an earlier Innovate UK grant in November 2023 to expand SynaptixBio’s search for rare disease therapies.
A key part of the new programme is that NHS genomic scientists will aim to provide parents with the test results within 28 days of a suspected condition.
SynaptixBio’s approach uses a form of gene silencing technology, called antisense oligonucleotides, to stop genetic mutations from creating toxic proteins.
The technology has proven successful in the treatment of certain dystrophies, including Duchenne muscular dystrophy, and is currently under trial by University College London Hospitals as a potential therapy for Alzheimer’s disease.
In the UK, a rare disease is defined as a condition that affects fewer than 1 in 2,000 in the population. According to the European Commission: "1 in 17 people will be affected by a rare disease at some point in their lives. This amounts to 3.5 million people in the UK and 30 million people across Europe.”