Lung magnetic resonance imaging (MRI) with ultrashort echo-time (UTE) represents a recent breakthrough in lung structure imaging, providing image resolution and quality comparable to computed tomography (CT). Due to the absence of ionising radiation, MRI is often preferred over CT in paediatric diseases such as cystic fibrosis (CF), one of the most common genetic disorders in Caucasians. To assess structural lung damage in CF imaging, CT scoring systems provide valuable quantitative insights for disease diagnosis and progression. However, few quantitative scoring systems are available in structural lung MRI (e.g., UTE-MRI). To provide fast and accurate quantification in lung MRI, we investigated the feasibility of novel Artificial intelligence-assisted Pixel-level Lung (APL) scoring for CF. APL scoring consists of 5 stages, including 1) image loading, 2) AI lung segmentation, 3) lung-bounded slice sampling, 4) pixel-level annotation, and 5) quantification and reporting. The results shows that our APL scoring took 8.2 minutes per subject, which was more than twice as fast as the previous grid-level scoring. Additionally, our pixel-level scoring was statistically more accurate (p=0.021), while strongly correlating with grid-level scoring (R=0.973, p=5.85e-9). This tool has great potential to streamline the workflow of UTE lung MRI in clinical settings, and be extended to other structural lung MRI sequences (e.g., BLADE MRI), and for other lung diseases (e.g., bronchopulmonary dysplasia).

This research embarked on a comparative exploration of the holistic segmentation capabilities of Convolutional Neural Networks (CNNs) in both 2D and 3D formats, focusing on cystic fibrosis (CF) lesions. The study utilized data from two CF reference centers, covering five major CF structural changes. Initially, it compared the 2D and 3D models, highlighting the 3D model's superior capability in capturing complex features like mucus plugs and consolidations. To improve the 2D model's performance, a loss adapted to fine structures segmentation was implemented and evaluated, significantly enhancing its accuracy, though not surpassing the 3D model's performance. The models underwent further validation through external evaluation against pulmonary function tests (PFTs), confirming the robustness of the findings. Moreover, this study went beyond comparing metrics; it also included comprehensive assessments of the models' interpretability and reliability, providing valuable insights for their clinical application.

A new tool to predict the chances of successfully inserting a gene-edited sequence of DNA into the genome of a cell, using a technique known as prime editing, has been developed by researchers at the Wellcome Sanger Institute. An evolution of CRISPR-Cas9 gene editing technology, prime editing has huge potential to treat genetic disease in humans, from cancer to cystic fibrosis. But thus far, the factors determining the success of edits are not well understood. The study, published in Nature Biotechnology, assessed thousands of different DNA sequences introduced into the genome using prime editors. These data were then used to train a machine learning algorithm to help researchers design the best fix for a given genetic flaw, which promises to speed up efforts to bring prime editing into the clinic.

A new tool to predict the chances of successfully inserting a gene-edited sequence of DNA into the genome of a cell, using a technique known as prime editing, has been developed by researchers at the Wellcome Sanger Institute. An evolution of CRISPR-Cas9 gene editing technology, prime editing has huge potential to treat genetic disease in humans, from cancer to cystic fibrosis. But thus far, the factors determining the success of edits are not well understood. The study, published today (February 16) in Nature Biotechnology, assessed thousands of different DNA sequences introduced into the genome using prime editors. These data were then used to train a machine learning algorithm to help researchers design the best fix for a given genetic flaw, which promises to speed up efforts to bring prime editing into the clinic.

Accurately predicting how an individual's chronic illness is going to progress is critical to delivering better-personalised, precision medicine. Yet there is an enormous challenge in accurately predicting the clinical trajectories of people for chronic health conditions such as cystic fibrosis (CF), cancer, cardiovascular disease and Alzheimer's disease. AI technology developed by the Cambridge Centre for AI in Medicine and their colleagues offers a glimpse of the future of precision medicine, and the predictive power which may be available to clinicians caring for individuals with the life-limiting condition cystic fibrosis. "Prediction problems in healthcare are fiendishly complex," said Professor Mihaela van der Schaar, Director of the Cambridge Centre for AI in Medicine (CCAIM). "Even machine learning approaches, which deal in complexity, struggle to deliver meaningful benefits to patients and clinicians, and to medical science more broadly. Off-the-shelf machine learning solutions, so useful in many areas, simply do not cut it in predictive medicine."

A Polish startup is using artificial intelligence-powered technology to help parents monitor their children for early signs of respiratory issues. StethoMe, based in the city of Poznań, has developed a smart wireless stethoscope that can detect, classify and analyze pathological sounds within children's lungs through the use of AI. It claims that the technology can increase the accuracy of results and analysis by up to 13%, providing "peace of mind for parents examining their children at home" and "more accurate readings for doctors". "The healthcare challenge we are tackling is the lack of remote auscultation and the poor accuracy and subjectiveness of this kind of examination. There is currently no objective method for diagnosing lung conditions at home," says CEO Wojciech Radomski. "The absence of a solution poses difficulties in the monitoring of chronic respiratory diseases such as asthma, cystic fibrosis, as well as cardiac screening.

We develop a general framework for hypothesis testing with time series data. The problem is to distinguish between the mean functions of the underlying temporal processes of populations of times series, which are often irregularly sampled and measured with error. Such an observation pattern can result in substantial uncertainty about the underlying trajectory, quantifying it accurately is important to ensure robust tests. We propose a new test statistic that views each trajectory as a sample from a distribution on functions and considers the distributions themselves to encode the uncertainty between observations. We derive asymptotic null distributions and power functions for our test and put emphasis on computational considerations by giving an efficient kernel learning framework to prevent over-fitting in small samples and also showing how to scale our test to densely sampled time series. We conclude with performance evaluations on synthetic data and experiments on healthcare and climate change data.

We are in the midst of a significant shift in pharmaceutical drug development, with many leading companies focusing increasingly on orphan drugs targeted at small niche markets. An orphan disease is a medical condition or disorder that affects less than 200,000 people in the US. The National Institutes of Health (NIH) has classified as many as 7,000 medical conditions as orphan diseases. Although a rare disease affects only a small population, the collective number of rare diseases affects as many as 25 million people. This mammoth-sized number of people requiring niche drugs is a serious public health concern.

This year has seen the birth of the first three-person baby, a dangerous Zika epidemic and a huge injustice overturned by medical science. There were also breakthroughs in a range of deadly diseases. A year ago hardly anyone had heard of Zika virus. Now the birth of babies with underdeveloped brains - known as microcephaly - is all too familiar. The World Health Organization declared the disease, which is spread by mosquitoes, a public health emergency.

A novel extrapolation method is proposed for longitudinal forecasting. A hierarchical Gaussian process model is used to combine nonlinear population change and individual memory of the past to make prediction. The prediction error is minimized through the hierarchical design. The method is further extended to joint modeling of continuous measurements and survival events. The baseline hazard, covariate and joint effects are conveniently modeled in this hierarchical structure. The estimation and inference are implemented in fully Bayesian framework using the objective and shrinkage priors. In simulation studies, this model shows robustness in latent estimation, correlation detection and high accuracy in forecasting. The model is illustrated with medical monitoring data from cystic fibrosis (CF) patients. Estimation and forecasts are obtained in the measurement of lung function and records of acute respiratory events. Keyword: Extrapolation, Joint Model, Longitudinal Model, Hierarchical Gaussian Process, Cystic Fibrosis, Medical Monitoring