SCN2A related disorder is a rare genetic disease characterized by intractable seizures, developmental delay, and gait ataxia with no treatments.  WE are currently in clinical trial with an allele-specific antisense oligonucleotide and tailored outcome measures, with positive safety and early efficacy signals.  This ASO may be used in other children with clinical phenotype and the same SNP on whole genome sequencing to confer selectivity for downregulation of the mutant allele. 

The PrecivityAD2™ blood test is a breakthrough in Alzheimer’s disease diagnosis, offering high concordance with amyloid PET scan and CSF biomarkers to identify brain amyloid pathology. This test leverages high-resolution mass spectrometry and multiple proteomic analysis to facilitate an early and accurate diagnosis for patients with cognitive impairment. The discussion will revolve around how the PrecivityAD2 test and other emerging molecular tools are redefining clinical care pathways in neurological medicine.

There has been a surge in the recognition of many new central nervous system inflammatory disorders over the past 20 years. Oftentimes these diseases are defined by autoantibodies targeting specific neural antigens. Identifying these autoantibodies not only has accelerated the speed with which neurologists diagnose these conditions, but it has also deepened our understanding of the underlying immunology of these conditions and informed precision-based therapeutics that can be lifesaving.

Precision medicine is opening new frontiers across multiple disciplines of medicine, but the opportunity to personalize patient care using GLP-1s may represent one of the greatest opportunities. However, unlocking these opportunities will take an AI revolution. This presentation will explore how validated AI and real-world, unstructured data could pave the way for precision medicine with GLP-1 therapies.

Obesity is a heterogeneous and multifactorial disease that affects over 1 billion people worldwide. Because of the heterogeneity of the disease, patients respond differently to anti-obesity interventions, including the new GLP-1 drugs. To better identify responders, Phenomix Sciences launched the MyPhenome test, a genetic test that identifies three phenotypes of the disease related to intervention response. The clinical demonstration of phenotypes and intervention response will be discussed at the session.

GLP-1 receptor agonists have emerged as highly effective treatments for obesity and diabetes, yet clinical response varies significantly. This presentation explores recent findings on predictors of GLP-1 efficacy, including genetic, metabolic, environmental, and behavioral indicators that correlate with successful weight loss and long-term maintenance, and glycemic control. This discussion will also evaluate several therapeutic options for obesity and diabetes using a precision medicine approach.

Precision medicine approaches to autoimmune, autoinflammatory and atopic diseases have been slow to impact patients; unmet need remains high in these diseases. The advent of targeted therapies and OMICs techniques has highlighted the need to target drugs to appropriate patient subsets. This presentation will examine past and current approaches to predicting drug responses and the future use of genetic and diseased tissue OMICs to predict treatment responses to immune-mediated diseases.

This presentation will explore the role of artificial intelligence in autoimmune disease management and the latest research conducted until this date. Key points include AI applications in early diagnosis, preclinical case prediction, patient management, and AI-driven personalized treatment strategies and drug discovery

This presentation showcases the integration of multiomics and machine learning for the discovery of prognostic and predictive biomarkers in Crohn's disease. Using state-of-the-art proteomics and transcriptomics, novel biomarkers were identified to detect, at disease diagnosis, patients at high risk of developing fibrotic and fistulizing complications, as well as predict response to anti-TNF therapy. These biomarkers have the potential to enable precision medicine approaches for improved Crohn's disease management and patient outcomes.