News
Hospitals roll out gene testing for newborns in national study
UK hospitals have started testing newborns for more than 200 rare genetic conditions in what researchers call a landmark national study.
Forty-seven NHS hospitals, including Sunderland Royal Hospital, South Tyneside District Hospital and Newcastle’s Royal Victoria Infirmary, are taking part in the Generation Study.
The aim is to test 100,000 babies, with the study set to run until March 2027.
The screening covers conditions such as cystic fibrosis and rarer disorders like metachromatic leukodystrophy (MLD) – an inherited disease that damages the brain and causes progressive loss of movement and thinking skills.
Genomics England and NHS England are leading the project, which follows consultation with parents, families affected by rare conditions, healthcare professionals, policy makers and scientists.
Parents will be told about the study during pregnancy, with research midwives giving more detailed information to those who are interested. Blood samples are collected soon after birth, usually from the umbilical cord.
Lucy Rowland, research midwife at South Tyneside and Sunderland NHS Foundation Trust, said the team was “really excited” to take part.
“If a condition is suspected, the appropriate treatment can be started promptly as early intervention is key,” she said.
“It will be interesting to see this study develop.”
Rachel Nicholson, a consultant on the trust’s maternity team, stressed that taking part is voluntary.
“While we want as many people as possible to sign up to help build the biggest picture we can of genetic conditions, we want to stress there is no pressure to get involved.
“Everyone knows what is right for them and their family.”
The study marks a major expansion of newborn screening in the UK, which at present usually tests for around nine conditions.
Diagnosis
Lung cancer drug shows breast cancer potential
Ovarian cancer cells quickly activate survival responses after PARP inhibitor treatment, and a lung cancer drug could help block this, research suggests.
PARP inhibitors are a common treatment for ovarian cancer, particularly in tumours with faulty DNA repair. They stop cancer cells fixing DNA damage, which leads to cell death, but many tumours later stop responding.
Researchers identified a way cancer cells may survive PARP inhibitor treatment from the outset, pointing to a potential way to block that response. A Mayo Clinic team found ovarian cancer cells rapidly switch on a pro-survival programme after exposure to PARP inhibitors. A key driver is FRA1, a transcription factor (a protein that turns genes on and off) that helps cancer cells adapt and avoid death.
The team then tested whether brigatinib, a drug approved for certain lung cancers, could block this response and boost the effect of PARP inhibitors. Brigatinib was chosen because it inhibits multiple signalling pathways involved in cancer cell survival.
In laboratory studies, combining brigatinib with a PARP inhibitor was more effective than either treatment alone. Notably, the effect was seen in cancer cells but not normal cells, suggesting a more targeted approach.
Brigatinib also appeared to act in an unexpected way. Rather than working through the usual DNA repair routes, it shut down two signalling molecules, FAK and EPHA2, that aggressive ovarian cancer cells rely on. FAK and EPHA2 are proteins that relay survival signals inside cells. Blocking both at once weakened the cells’ ability to adapt and resist treatment, making them more vulnerable to PARP inhibitors.
Tumours with higher levels of FAK and EPHA2 responded better to the drug combination. Other data link high levels of these molecules to more aggressive disease, pointing to potential benefit in harder-to-treat cases.
Arun Kanakkanthara, an oncology investigator at Mayo Clinic and a senior author of the study, said: “This work shows that drug resistance does not always emerge slowly over time; cancer cells can activate survival programmes very early after treatment begins.”
John Weroha, a medical oncologist at Mayo Clinic and a senior author of the study, said: “From a clinical perspective, resistance remains one of the biggest challenges in treating ovarian cancer. By combining mechanistic insights from Dr Kanakkanthara’s laboratory with my clinical experience, this preclinical work supports the strategy of targeting resistance early, before it has a chance to take hold. This strategy could improve patient outcomes.”
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