Contributors from the PKU community, including patient reps, key opinion leaders, and medical experts, discuss the implications of redefining ‘unmet medical need’ in the EU’s pharmaceutical legislation, emphasising the potential negative impact on patients, particularly those with rare diseases like phenylketonuria.
Researchers at UCL have developed a method to reduce MRI scan times for dementia diagnosis by two-thirds, potentially doubling daily scan capacity and improving access to early care.
University of Bristol researchers have discovered a VEGF-C gene therapy that protects the kidneys and may prevent serious complications in people with type 1 diabetes.
A UCL-led study shows bioactive nanoparticles can restore blood-brain barrier function and clear amyloid-β in mice, reversing Alzheimer's-like brain changes.
A new NHS screening programme will test babies for hereditary tyrosinemia type 1 at five days old, enabling early treatment to prevent organ damage, liver failure, and other serious complications.
The University of Birmingham leads £1.55m research to assess the long-term effects of vaping on respiratory cells, immunity, and lung microbiome in smokers.
The University of Liverpool researchers create a low-cost, handheld AI-powered blood test to detect Alzheimer's biomarkers, enabling earlier diagnosis and global accessibility.
The NIH has established the Standardized Organoid Modeling Center, aiming to develop reproducible, human-based models using AI and robotics, reducing reliance on animal testing.
A new gene therapy called AMT-130 has shown promising results in slowing the progression of Huntington’s disease, according to the latest results from a global clinical trial.
Lorna Rothery spoke with Victoria Hedley, co-lead of the Rare Disease Research UK Hub, about initiatives aimed at advancing the agenda for rare diseases, as well as the importance of facilitating cross-border collaboration to promote best practices and advance critical research.
