The Miner Lab studies rare diseases and cytosolic nucleic acid sensors

Mission: We seek to unravel biological mysteries and to cure devastating, rare human diseases.

Vision: To make fundamental discoveries leading to highly effective personalized medicine

Values: Teamwork, hard work, inclusion, and creativity

Rare autoimmune and autoinflammatory diseases

A major priority for our laboratory is to define mechanisms of rare rheumatic diseases, and to develop and test personalized therapies for those diseases. In particular, we focus our studies on cytosolic nucleic acid-sensing pathways. We currently have active collaborations with multiple investigators to develop personalized medicines for rare diseases. This includes collaborators at multiple institutions around the world.

Retinal vasculopathy with cerebral leukoencephalopathy (RVCL or RVCL-S)

RVCL is a rare disease caused by mutations in the TREX1 gene.  Dr. Miner directs the RVCL Research Center at Penn and works together with national and international collaborators to care for patients with RVCL. Patients with RVCL (also known as RVCL-S, CRV, HERNS, or CHARIOT), develop brain lesions causing dementia, retinal lesions causing blindness, kidney disease, liver disease, and premature death in 100% of affected individuals. Working with our collaborators in Japan, France, and Australia, we discovered that RVCL is a DNA damage syndrome that mimics radiation injury. More recently, we have developed novel therapies that prevent the damaging effects of RVCL-causing mutations in model systems.

STING-associated vasculopathy with onset in infancy (SAVI) and COPA syndrome

Patients with mutations in STING and COPA develop a severe autoimmune 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. Click here to read more about our work on SAVI.

Derek Platt selected by Forbes for top 30 under 30 in science!

Miner lab MD/PhD student Derek Platt played football in college but now pursues his passion for microbiology and medicine. His first project was focused on the then obscure Zika virus. When the recent global outbreak of Zika occurred, Platt ended up in contact with research teams all over the world, and the results of his work are being used for diagnosis and treatment of the disease.  His second and third projects involved rare diseases: RVCL and SAVI. Now Derek is using his expertise in microbiology to study microbes impact ultra-rare disease. Derek also successfully defended his thesis in 2021.

Innate immunity during alphavirus and flavivirus infections

Members of the Miner laboratory were involved in developing early models of congenital Zika virus infection. Later, our laboratory found that other Zika virus-related flaviviruses (like West Nile virus) also can cause fetal and placental 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