The Miner Laboratory studies rare  diseases, immunity, and viruses.

Current and former lab members

Contact us if you’re interested in working with us.


Retinal vasculopathy with cerebral leukoencephalopathy (RVCL)

RVCL is a rare disease caused by mutations in the TREX1 gene. Patients with RVCL (also known as cerebroretinal vasculopathy or CRV), develop eye and brain lesions that result in blindness, dementia, and premature death.

We are working to discover the underlying mechanisms of disease pathogenesis. Our goal is to develop novel, effective treatments for this rare disease.

Ellen S. Clark Hope Plaza (top)

Brain lesions in RVCL (bottom)

Click here to read more about the RVCL Research Center.


Mutations in TREX1 and STING cause vasculopathies including RVCL or CRV (in the case of TREX1) and STING-associated vasculopathy with onset in infancy (SAVI) in the case of STING mutations.

STING-associated vasculopathy with onset in infancy (SAVI)

Children with mutations in STING, an innate immune sensor of viral DNA, develop a severe lupus-like disease.

The Miner laboratory published the first mouse model of STING-associated vasculopathy and has subsequently performed additional studies to define mechanisms of disease pathogenesis in this model.

Unexpectedly, we discovered that type I interferon signaling as well as upstream regulators and downstream effectors of STING are not required for disease pathogenesis in mice.

TREX1-cGAS-STING signaling pathway

Click here to read more about our work on SAVI.


 

Innate immunity during chikungunya and Zika virus infections

Members of the Miner laboratory were involved in developing early models of congenital Zika virus infection.

The Miner laboratory has continued to study mechanisms of antiviral immunity against flaviviruses (e.g., West Nile virus, Zika virus) and alphaviruses (e.g., chikungunya virus, Mayaro virus).

Read more about our work on CNN.com