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

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