Chen Liheng Reply — STRC c.4976A>C Discussion
Email from Chen Liheng ([email protected]) to Egor, dated 2026-04-07 15:09.
CC: [email protected] (Professor Shu Yilai 舒易来), [email protected] (Dr. Han Shuang 韩双)
Subject: Re:Re: 位父亲用AI分析儿子的STRC变异——恳请您的指导
Full Text (Original Chinese)
家长您好，感谢您的分享。正如您所讲的，c.4976A>C尽管目前仍是临床意义不明，但已经很接近可能致病级别了。我们医院可以做长读长测序。与此同时，我们团队也正在开发STRC的基因治疗药物。我已将您的”mini-STRC单载体基因治疗”观点分享给舒教授团队负责STRC基因治疗动物研究的韩双医生，后续欢迎持续交流。
Key Takeaways
- Chen confirms c.4976A>C is near-pathogenic — agrees the variant is close to likely-pathogenic despite current VUS classification
- Long-read sequencing available — Fudan EENT Hospital can perform long-read sequencing (critical for resolving STRC vs pseudo-STRC)
- STRC gene therapy in active development — their team is developing STRC gene therapy drugs
- mini-STRC idea forwarded to Han Shuang — Egor’s suggestion about mini-STRC single-vector gene therapy was shared with Dr. Han Shuang, who leads STRC gene therapy animal research in Professor Shu’s team
- Open to continued collaboration — invitation for ongoing exchange
Significance
This is a major positive response. The Shu lab at Fudan EENT is one of the leading groups in STRC hearing loss research globally. Getting a direct channel to the animal research lead (Han Shuang) for gene therapy is a significant connection.
Connections
- STRC Variant c.4976A>C — Misha — [source] the variant under discussion
- Shu lab — [about] the research group
- STRC Gene Therapy Landscape 2026 — [source] active development confirmed
- STRC Mini-STRC Single-Vector Hypothesis — [see-also] concept shared with the team