Gene Therapy for Severe Form of Epilepsy Shows Promise
Scientists from the University of Virginia School of Medicine describe in a study involving mouse models how a newly developed gene therapy can treat Dravet syndrome, a severe form of epilepsy, and potentially prolong survival for people with the condition.
Tau Interactome Map Suggests How Mutated Brain Protein Spreads
Researchers at the Buck Institute and collaborators have mapped the tau interactome using proteomics. They also uncovered new findings about how the diseased protein spreads in the brain and how it impacts mitochondria.
U.K.’s Our Future Health Aims to Transform Disease Prevention, Detection, Treatment
The program seeks to enroll five million participants as it looks to develop a broad view of the health of the country’s population while developing new ways to prevent and treat diseases and health conditions such as cancer, Alzheimer’s disease, heart disease, arthritis, diabetes, and stroke.
Centogene Partners Insilico Medicine to Target Rare Neurometabolic Disease
Rare disease and AI-specialists Centogene and Insilico Medicine will join forces to find drug targets for Niemann-Pick Disease Type C, a rare inherited neurometabolic disease with no approved treatment options.
Machine Learning Model Can Predict Survival From COVID-19
German researchers have created a machine learning model from COVID-19 patient blood protein data that accurately predicts who is most likely to survive the infection.
Blood Cancer Gene Defect Could Be Treated by Existing PARP Inhibitors
New research suggests that PARP inhibitors could be used to treat patients with tumors carrying the defective SF3B1 gene. This mutation is most often found in blood cancers, including chronic lymphocytic leukemia, as well as some rare cancers like uveal melanoma.
Breast Cancer AI Could Help Determine Need for Biopsy
The researchers trained their interpretable AI algorithm for breast lesions (IAIA-BL) to locate and evaluate lesions just like an actual radiologist would be trained, rather than allowing it to freely develop its own procedures.
Open Data Collaboration Shows AI Can Accurately Diagnose Prostate Cancer
A large study led by the Karolinska Institute in Sweden shows that artificial intelligence can be used to accurately diagnose and grade prostate cancer in a way that is generalizable across different populations.
New Test Predicts Melanoma Spread, Recurrence
U.K. researchers detail how early-stage melanomas at risk of spreading secrete a growth factor, TGFβ2, that causes downregulation of the proteins AMBRA1 and Loricrin—both of which are found in the skin overlaying the tumor.
Precision Medicine Platform Trial Aims to Develop Treatments for Rare Cancers
Cancer Research UK’s Centre for Drug Development will sponsor and manage the trial and Roche will provide the first five targeted therapies for evaluation.
