Precision Medicine Panel: Ahituv, Boudreau, Poon | MEDopathies Symposium 2026

Three scientists discuss two lab-stage approaches that aim to raise MED13L levels when one copy of the gene makes little or no protein: CRISPR activation (Nadav Ahituv) and antisense oligonucleotides, or ASOs (Ryan Boudreau), and how neurons grown from patients' cells can be used to test them (Wayne Poon). Moderated by Ricardo Ramirez, the panel then covers how the approaches differ, how they might reach the brain safely, why the dose matters, and which lab models are worth investing in. Chapters 0:00 Before you watch 0:55 Panel welcome and introductions 3:21 Ahituv: turning up a gene with CRISPRa 5:35 Boudreau: ASOs to release the brakes 12:44 Poon: testing in patient neurons 20:17 Panel: ASO vs CRISPRa, how they differ 27:52 Delivery and safety 34:28 Getting the dose right 40:39 Which lab models to invest in 45:29 Audience question: EEG measures 46:16 Thanks and close Moderator: Ricardo N. Ramirez, PhD, Chief Scientific Officer, MED13L Foundation Panelists: Nadav Ahituv, PhD, Professor and Director, Institute for Human Genetics, UCSF Ryan L. Boudreau, PhD, Professor of Internal Medicine, University of Iowa Wayne Poon, PhD, Senior Director, Head of Neuroscience and Rare Diseases, NeuCyte Recorded October 9, 2026 at the MEDopathies Virtual Scientific Symposium, hosted by the MED12 Foundation, MED13L Foundation and MED13 Foundation. For educational purposes only. Not medical advice. Views are the speakers' own, and some results may be preliminary. Key terms and references: Haploinsufficiency: https://www.cancer.gov/publications/d... MED13L dosage sensitivity: https://search.clinicalgenome.org/kb/... MED13L syndrome: https://medlineplus.gov/genetics/cond... DNA to RNA to protein: https://www.genome.gov/genetics-gloss... Gene regulation: https://medlineplus.gov/genetics/unde... CRISPR activation (CRISPRa): https://doi.org/10.1126/science.aau0629 Upstream open reading frame (uORF): https://doi.org/10.1371/journal.pgen.... ASOs targeting uORFs: https://doi.org/10.1038/nbt.3589 microRNA: https://doi.org/10.1016/j.cell.2018.0... Antisense oligonucleotide (ASO): https://doi.org/10.1146/annurev-med-0... iPSC (induced pluripotent stem cells): https://stemcells.nih.gov/info/basics... High-density microelectrode array (MEA): https://doi.org/10.3389/fnins.2014.00423 Synapse: https://www.ninds.nih.gov/health-info... Dravet syndrome: https://www.ninds.nih.gov/health-info... SCN1A seizure disorders: https://www.ncbi.nlm.nih.gov/books/NB... Spinraza (nusinersen): https://medlineplus.gov/druginfo/meds... AAV vector: https://medlineplus.gov/genetics/unde... AAV vectors (review): https://doi.org/10.1038/s41573-019-00... Intrathecal: https://www.cancer.gov/publications/d... Gene dosage: https://doi.org/10.1038/ncomms14366 Studies mentioned on the panel: A 2026 NEJM case report described a child whose brain tumor carried AAV gene-therapy DNA inserted into a tumor-linked gene (PLAG1) (Ahrens-Nicklas et al., N Engl J Med 2026): https://doi.org/10.1056/NEJMoa2601608 Encoded Therapeutics reported a median reduction of about 76% in monthly countable seizures in higher-dose groups of its small, open-label Phase 1/2 trials of ETX101 for SCN1A Dravet syndrome (2026 data): https://encoded.com/encoded-therapeut... MED12 Foundation: https://www.med12.org MED13L Foundation: https://med13l.org MED13 Foundation: https://med13.org TAGS MEDopathies, MED13L, MED13L syndrome, CRISPR activation, CRISPRa, antisense oligonucleotides, ASO, haploinsufficiency, iPSC neurons, gene therapy, rare disease research, precision medicine, MEDopathies Symposium 2026