302: SMN1/SMN2 splicing and last-exon mechanisms — Tribute to Brunhilde Wirth

The Last Exon Light: A Tribute Dossier Celebrating the Scientific Career of Prof. Dr. Brunhilde Wirth - Special tribute episode honoring Prof. Dr. Brunhilde Wirth and synthesizing recurring themes across her work on SMN1/SMN2 splicing, variant interpretation, and spinal muscular atrophy. Study Highlights:This special episode is based on a tribute dossier rather than a single new primary research paper. It highlights recurring scientific themes across Brunhilde Wirth's career: SMN1/SMN2 biology, exon splicing, functional validation of variants, nonsense-mediated decay edge cases, and genotype-phenotype interpretation in SMA. Conclusion:This release should be read as an editorial tribute and curated scientific overview, not as a summary of one canonical article. Music:Enjoy the music based on this article at the end of the episode. Source document:The Last Exon Light: A Tribute Dossier Celebrating the Scientific Career of Prof. Dr. Brunhilde Wirth Source type:Editorial tribute dossier / multi-source compilation Reference:The Last Exon Light: A Tribute Dossier Celebrating the Scientific Career of Prof. Dr. Brunhilde Wirth. Editorial tribute dossier and curated retrospective source text. License:Not specified in the provided text. Support:Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz71B2sN3RWac5gEg00 Official website https://basebybase.com On PaperCast Base by Base you’ll discover the latest in genomics, functional genomics, structural genomics, and proteomics. Episode link: https://basebybase.com/episodes/smn1-smn2-splicing-wirth QC:This episode was reviewed as a special editorial release. QC Scope:- source-document framing, descriptive metadata, and publication text- excludes automated single-article AI QC because this episode is a curated tribute dossier / multi-source compilation rather than one canonical research paper- title, framing, and source attribution were reviewed manually QC Summary:- production mode: editorial tribute / multi-source compilation- single-article AI QC: not applicable- listener note: this episode synthesizes a tribute dossier celebrating Brunhilde Wirth's scientific career and related SMA/splicing themes Metadata Audited:- episode_title- source_document_title- source_type- reference- license Factual Items Audited:- episode explicitly framed as a tribute dossier / multi-source compilation- no single canonical research article is represented as the sole source- publication description was aligned to dossier-style source material- manual editorial review approved the release QC result: Editorial exception. This episode was approved after manual review. Chapters (00:00:10) - The End of an Era in Genetic Science(00:01:57) - The discovery of SMN2 in spinal cord disease(00:06:13) - The journey from bench to bed(00:08:00) - The mystery of SMA(00:12:18) - A Legacy of SMA: Katherine Worth's work(00:15:31) - Stitch the Science Into Life