The Miner Lab studies rare diseases and antiviral immunity

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 country.
Rare disease research is important because these diseases are devastating and untreatable.  Many of these patients die prematurely, but their diseases could be cured since they are a consequence of a single gene mutation.  Studying monogenic diseases also gives insight into fundamental mechanisms of biology and disease. Another benefit of this work is that the pathways targeted are highly relevant for a wide variety of common diseases, including infections, cancer, and autoimmune diseases. The therapies being developed for rare diseases are likely to be of broad utility for common diseases as well.

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. We are working to discover the underlying mechanisms of disease and to develop treatments, and hopefully a cure.

 

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

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