Elias Bou Farhat
First author of the 2026 JCI Insight paper on a TSC2-mutant minipig model of cardiac rhabdomyoma.
Brigham and Women's Hospital, Boston
Elias Bou Farhat is first author of BOU2026. The team generated a minipig with the recurrent TSC2 p.Arg505* variant, which developed cardiac rhabdomyomas resembling the human lesions, with active mTORC1 signalling and an MITF/TFE-regulated lysosomal gene signature shared with human tumours.
The authors report that other manifestations of tuberous sclerosis were not seen in the first year of life, so the model so far covers the heart. In PubMed he is listed in the Division of Pulmonary and Critical Care Medicine at Brigham and Women's Hospital.
Milestones in the Atlas
A selection, not a full bibliography: only papers that meet the Atlas inclusion criteria.
| Year | Evidence | Study |
|---|---|---|
| 2026 | A | TSC2-Mutant Yucatan Minipig Cardiac Rhabdomyoma Model Reveals mTORC1 Activation and MITF/TFE Expression Signature BOU2026 First author. TSC2-mutant minipig develops cardiac rhabdomyomas with mTORC1 activation; animal model only. |
Co-authors in the Atlas 2
People with a profile here who share at least one study with Elias Bou Farhat.
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- David J. Kwiatkowski Geneticist and physician who studies tuberous sclerosis complex (TSC) and the TSC1/TSC2 genes that restrain mTORC1.
- Elizabeth P Henske Tuberous sclerosis researcher and co-author of the 2026 TSC2 minipig study and the 2017 Cancer Cell paper on mTORC1 and nucleotide synthesis.
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