Click click snap: One look at patient's face, and AI can identify rare genetic diseases


WASHINGTON D.C. [USA]: According to a recent study, a new artificial intelligence technology can accurately identify rare genetic disorders using a photograph of a patient's face. Named DeepGestalt, the AI technology outperformed clinicians in identifying a range of syndromes in three trials and could add value in personalised care, CNN reported. The study was published in the journal Nature Medicine. According to the study, eight per cent of the population has disease with key genetic components and many may have recognisable facial features. The study further adds that the technology could identify, for example, Angelman syndrome, a disorder affecting the nervous system with characteristic features such as a wide mouth with widely spaced teeth etc. Speaking about it, Yaron Gurovich, the chief technology officer at FDNA and lead researcher of the study said, "It demonstrates how one can successfully apply state of the art algorithms, such as deep learning, to a challenging field where the available data is small, unbalanced in terms of available patients per condition, and where the need to support a large amount of conditions is great."

Artificial Intelligence Effectively Assesses Cell Therapy Functionality


A fully automated artificial intelligence (AI)-based multispectral absorbance imaging system effectively classified function and potency of induced pluripotent stem cell derived retinal pigment epithelial cells (iPSC-RPE) from patients with age-related macular degeneration (AMD). The finding from the system could be applied to assessing future cellular therapies, according to research presented at the 2018 ARVO annual meeting. The software, which uses convolutional neural network (CNN) deep learning algorithms, effectively evaluated release criterion for the iPSC-RPE cell-based therapy in a standard, reproducible, and cost-effective fashion. The AI-based analysis was as specific and sensitive as traditional molecular and physiological assays, without the need for human intervention. "Cells can be classified with high accuracy using nothing but absorbance images," wrote lead investigator Nathan Hotaling and colleagues from the National Institutes of Health in their poster.

Learning to Exploit Invariances in Clinical Time-Series Data using Sequence Transformer Networks Machine Learning

Recently, researchers have started applying convolutional neural networks (CNNs) with one-dimensional convolutions to clinical tasks involving time-series data. This is due, in part, to their computational efficiency, relative to recurrent neural networks and their ability to efficiently exploit certain temporal invariances, (e.g., phase invariance). However, it is well-established that clinical data may exhibit many other types of invariances (e.g., scaling). While preprocessing techniques, (e.g., dynamic time warping) may successfully transform and align inputs, their use often requires one to identify the types of invariances in advance. In contrast, we propose the use of Sequence Transformer Networks, an end-to-end trainable architecture that learns to identify and account for invariances in clinical time-series data. Applied to the task of predicting in-hospital mortality, our proposed approach achieves an improvement in the area under the receiver operating characteristic curve (AUROC) relative to a baseline CNN (AUROC=0.851 vs. AUROC=0.838). Our results suggest that a variety of valuable invariances can be learned directly from the data.

Exploring difference in public perceptions on HPV vaccine between gender groups from Twitter using deep learning Machine Learning

In this study, we proposed a convolutional neural network model for gender prediction using English Twitter text as input. Ensemble of proposed model achieved an accuracy at 0.8237 on gender prediction and compared favorably with the state-of-the-art performance in a recent author profiling task. We further leveraged the trained models to predict the gender labels from an HPV vaccine related corpus and identified gender difference in public perceptions regarding HPV vaccine. The findings are largely consistent with previous survey-based studies.

Data Showing Potential for Machine Learning to Advance Understanding of Nonalcoholic Steatohepatitis (NASH) Presented at the Liver Meeting 2019 BioSpace


"By combining data from across our NASH clinical development program with artificial intelligence (AI)-based tools, we have the opportunity to better characterize this complex disease and understand how potential therapies can impact disease progression," said Mani Subramanian, MD, Senior Vice President, Liver Diseases, Gilead Sciences. "Applying PathAI's deep learning research platform for liver histology assessment will enable a more rigorous review of treatment response and has potential for the exploration of novel biology in patients with advanced fibrosis due to NASH." In a collaboration with PathAI, a leader in AI-powered research in pathology, Gilead is evaluating machine learning approaches to liver histology assessment for use in the diagnosis and staging of NASH and monitoring of treatment response in clinical trials. A study of images from liver biopsies from patients screened for the Phase 3 STELLAR program compared the staging and characterization of liver disease as assessed by experienced pathologists and by the PathAI research platform. The pathologists scored biopsies using the NASH Clinical Research Network (CRN) and Ishak fibrosis classifications, and the PathAI research platform, a convolutional neural network, evaluated these biopsies following training on more than 68,000 annotations from 75 board-certified pathologists.