Edda Spiekerkoetter
Stanford University, CA·Medicine & Clinical Research
Arteries and veins normally connect through tiny capillaries. In hereditary hemorrhagic telangiectasia (HHT), a genetic disease, arteries and veins can link directly instead, forming arteriovenous malformations (AVMs).
- Fields
Medicine & Clinical Research
Pharmacology
Genetics
- Topics
hereditary hemorrhagic telangiectasia
arteriovenous malformation
endothelial cells
- Grants
- 1 known grant, through Aug 2027
What they work on
- Build a mouse model of pulmonary arteriovenous malformations (PAVMs) by deleting HHT-causing genes (ENG, ALK1, SMAD4) in specific endothelial cell subgroups, and map PAVM origin using spatial transcriptomics and 3-D lung imaging.
- Turn patient-derived induced pluripotent stem cells (iPSCs) into arterial and venous endothelial cells to find pathways disrupted by ENG, ALK1 and SMAD4 mutations, then predict repurposed drugs computationally.
- Test whether tacrolimus (FK506), enzastaurin and brivanib prevent, halt or reverse PAVM formation in the new mouse model, in iPSC-derived endothelial cells and in organ cultures from HHT patients.
More about the research
AVMs in the lung, called pulmonary AVMs (PAVMs), are common in HHT. They raise the risk of stroke, brain abscesses, lung bleeding and migraines. The current treatment blocks them through a catheter, but up to a quarter reopen, so patients need repeated imaging and procedures. No drug can prevent, halt or reverse PAVMs. This project asks how PAVMs form and which signaling pathways could be targeted with medicines.
Why it matters
Patients with hereditary hemorrhagic telangiectasia face strokes, brain abscesses and lung bleeding from pulmonary arteriovenous malformations, and today they have no drug treatment. Identifying the cells and pathways that drive these malformations, and testing repurposed drugs like tacrolimus, enzastaurin and brivanib that are ready for clinical trials, could lead to medical therapies that prevent or reverse AVMs in the lung and possibly the brain and skin.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Beth Roman
University of Pittsburgh, PA·Biology
Determine why BMP9 and BMP10 are processed differently, using cell biology and biochemistry, and test in mouse models whether BMP10 made by hepatic stellate cells is required to prevent AVMs.
Yucheng Yao
University of California-Los Angeles, CA·Medicine & Clinical Research
Determine how loss of the receptor ALK1 raises MDM2 in artery endothelial cells, giving them lymphatic-like features that cause arteriovenous malformations, using endothelial ALK1-deficient mice.
Shahin Rafii
Weill Medical College of Cornell University, NY·Medicine & Clinical Research
Identify transcription factors that give endothelial cells organ-specific identities by growing ETV2-engineered R-VECs and stem-cell-derived iVECs with heart, lung and blood organoids or in injured mice, then using RNA profiling and motif discovery.
The school
Stanford University: 87 labs on PI Pages, $1.6B a year on research, 739 research doctorates a year.
Reach out
A start for your email. Fill in the brackets.