Medical Genetics workshops

This two-day interactive course examines quality, regulation, ethics and justice in genetic diagnostics and research. Sessions address biobanks, returning results, research ethics, responsible data use and sharing, diagnostic quality, and the IVD/IVDR framework. Workshops explore genomic variant interpretation and reporting and practical data sharing. Further discussions consider journal editorial responsibilities, ethical communication and human germline gene editing, ending with a participant debate. The virtual programme runs 26 November, 09:00–18:30, and 27 November, 09:00–19:15 CET (GMT+1). Participation costs EUR 149; registration closes 24 November 2026.

Detect and interpret genomic alterations of at least 50 bases using short and long reads. Lectures and practical exercises compare assembly-based and reference-mapping workflows, evaluate sequencing and assembly quality, and filter and annotate structural variants. Participants build trio or population VCF datasets, examine mosaic and somatic variation, and prioritise possible functional effects using human-genome examples. Linux and cloud exercises connect raw data processing with interpretation of disease and phenotype associations. Sessions: 30 November–2 December, 14:00–20:00 daily, Europe/Berlin (CET, UTC+01:00). Live online training; fee €450. A biology background and familiarity with genomic data formats are expected. Command-line Linux practical work is introduced during the course.

Brain-restricted somatic variants can cause cortical malformations, developmental tumors and other focal epilepsies while escaping routine germline tests. This investigators workshop examines sensitive methods for detecting variants present in only a small fraction of cells. Sessions cover minimally invasive sampling, genomic assays, single-nucleus RNA sequencing and spatial analysis of brain tissue, then connect these approaches to genotype–phenotype relationships and mechanistic studies in human cells and mosaic mouse models. The aim is to improve diagnosis and identify more targeted therapeutic strategies. Saturday 5 December, 14:30–16:00 Mountain Standard Time (America/Denver). Part of the 2026 American Epilepsy Society Annual Meeting. In-person meeting registration and a free myAES account are required. Standard full-meeting rates are USD 800 for member scientists and USD 1,075 for non-member scientists; student rates are USD 250 and USD 360, respectively. Other professional and one-day categories are available. Seating priority goes to registered attendees.

Many epilepsies remain unexplained after exome or genome sequencing. This workshop investigates mechanisms that conventional testing may miss: somatic mosaicism, repeat expansions, epigenetic changes and microRNA regulation. It relates biological and technical detection limits to neuronal excitability, clinical heterogeneity and treatment resistance. Thematic presentations and an interactive panel address multi-omics study design, clinical phenotyping, biomarkers and therapeutic development, connecting molecular mechanisms to precision medicine and surgical decisions. Sunday 6 December, 08:30–10:00 Mountain Standard Time (America/Denver). Part of the 2026 American Epilepsy Society Annual Meeting. In-person meeting registration and a free myAES account are required. Standard full-meeting rates are USD 800 for member scientists and USD 1,075 for non-member scientists; student rates are USD 250 and USD 360, respectively. Other professional and one-day categories are available. Seating priority goes to registered attendees.

This investigators workshop examines adeno-associated virus gene therapies for epilepsy from design and animal testing through clinical translation. Research examples concern Lafora disease, SCN1B-related Dravet syndrome and SLC6A1-related neurodevelopmental disorder. The panel considers treatment efficacy, seizure-associated adverse effects and AAV toxicity, alongside strategies for overcoming current limitations. Discussion also covers biomarkers, scalability and the evidence needed to advance candidates beyond preclinical studies. Sunday 6 December, 14:00–15:30 Mountain Standard Time (America/Denver). Part of the 2026 American Epilepsy Society Annual Meeting. In-person meeting registration and a free myAES account are required. Standard full-meeting rates are USD 800 for member scientists and USD 1,075 for non-member scientists; student rates are USD 250 and USD 360, respectively. Other professional and one-day categories are available. Seating priority goes to registered attendees.

This workshop connects genomic discovery with prediction of epilepsy outcomes. It examines genome-based multi-omics in multigenerational cohorts, multimodal deep learning that combines clinical and genomic information to predict antiseizure medication response, and polygenic risk scores integrated with machine learning to estimate disease severity and seizure control. The presentations link these complementary approaches to the problem of clinical heterogeneity and assess their practical role in more individualized treatment. Sunday 6 December, 14:00–15:30 Mountain Standard Time (America/Denver). Part of the 2026 American Epilepsy Society Annual Meeting. In-person meeting registration and a free myAES account are required. Standard full-meeting rates are USD 800 for member scientists and USD 1,075 for non-member scientists; student rates are USD 250 and USD 360, respectively. Other professional and one-day categories are available. Seating priority goes to registered attendees.