SynaptixBio, the only company licensed to commercialise a treatment for a rare but deadly disease, welcomes the announcement but says it lacks a detailed plan
The government has announced that every newborn baby in England will have their genetic code mapped to test for a wide range of conditions, part of a plan that will also see £650m invested in DNA research by 2030.
Oxford-based rare disease biotech, SynaptixBio, has welcomed the announcement but says it must soon be followed up by a detailed implementation plan that sets out exactly how the testing will be delivered and what support will be needed to ensure families are informed and involved.
Dan Williams PhD, CEO at SynaptixBio, said; “Rare diseases are primarily genetic in origin, indeed most are the result of single gene mutations. Unfortunately, most are currently untreatable, so identifying them shortly after birth maximizes the opportunities to develop personalized care plans and access appropriate support, which can be life-changing for those affected and their families.”
SynaptixBio was founded just four years ago to develop a therapy for H-ABC, the most severe form of TUBB4A leukodystrophy, a debilitating and life-limiting degenerative neurological disorder.The company recently announced it had selected its candidate drug for taking into clinical trials, a hugely significant milestone.
According to the announcement, as reported on the BBC, the government's 10-year plan for the NHS, which is set to be revealed over the coming few weeks, is aimed at easing pressure on services.
Screening newborn babies for rare diseases will involve whole genome sequencing (WGS), using blood taken shortly after birth. The NHS began a study in October last year to look for genetic disorders that develop in early childhood, but was limited to testing for those which have effective treatments.
Dan Williams responded to this at the time by calling for testing to be extended for all genetic disorders, towards which this announcement takes a big step. Dan continued; “Ambitious plans like this can only succeed if the necessary underpinning elements are also in place. Resources to undertake testing, process test results, and support families are just three of those elements. Overall, this new announcement is wonderful news. But it would be good to know that it will be backed up by credible and achievable plans that take into account the multiple other demands on the NHS.”
The BBC report said funding for the new initiative will also support efforts by Genomics England to build one of the world's largest research databases, with the goal of containing over 500,000 genomes by 2030.
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, which affects mainly babies and young children.This followed an earlier grant, in November 2023, from Innovate UK to expand SynaptixBio’s search for rare disease therapies.
Dan Williams added; “Identifying a candidate drug is incredibly important. It means the drug has passed toxicity tests and is stable. We are looking forward to getting into the clinic, though trials in the rare disease space are a lot harder to design due to the limited number of patients.”
SynaptixBio is using a form of gene silencing technology, called antisense oligonucleotides, to stop a genetic mutation from going on to create toxic proteins.The technology has been proven 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.
