Craig Lowe
Duke University, NC·Genetics
Sturge Weber Syndrome (SWS) is a rare disorder that is present from birth but not inherited. It causes abnormal small blood vessels in the facial skin, the membranes covering the brain (leptomeninges) and the eye's choroid layer.
- Fields
Genetics
Biology
Medicine & Clinical Research
- Topics
Sturge Weber Syndrome
Gαq
somatic mutation
- Grants
- 1 known grant, through Jan 2027
What they work on
- Identify the developmental time window in which vascular malformations form, using a conditional mouse model that switches on mutant GNAQ (R183Q) after Cre recombination.
- Determine which fetal cell type carries the GNAQ mutation in the earliest developing vascular lesions, using transcriptomic profiling of mouse embryos.
- Test the hypothesis that Sturge Weber Syndrome arises only when the somatic GNAQ mutation occurs in a specific cell type during a specific developmental window.
More about the research
These malformations lead to glaucoma, epilepsy, stroke-like episodes and cognitive problems. In 2013, a multi-institutional team including this group found the cause using whole-genome sequencing. It is a single mutation (R183Q) in the gene GNAQ, which makes a signaling protein called Gαq. The mutation arises after conception in some cells (a somatic mutation) and is present only in affected tissue. More than a decade later, there is still no animal model that faithfully copies the disease, which slows the search for treatments.
Why it matters
People with Sturge Weber Syndrome live with glaucoma, epilepsy and stroke-like episodes, and no faithful animal model exists to test therapies. Learning when and in which fetal cells the GNAQ mutation causes disease could enable mouse models of SWS. Those models could then be used to test new treatments.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Frank Conlon
University of North Carolina at Chapel Hill, NC·Genetics
Test whether DDX3X, an X-linked RNA helicase that escapes X-inactivation, regulates sex-specific mRNA translation in heart muscle cells, using a conditional Ddx3x mouse allele.
Lynn Jorde
University of Utah, UT·Genetics
Test whether a person's germline (inherited) mutation rate tracks their somatic mutation rate, using whole-genome sequencing of blood DNA collected from the same Utah CEPH pedigree members at three time points over 35 years.
Edda Spiekerkoetter
Stanford University, CA·Medicine & Clinical Research
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.
The school
Duke University: 61 labs on PI Pages, $1.6B a year on research, 417 research doctorates a year.
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