Our Team of Expert Clinicians and Researchers
Physicians
Jonathan J. Miner, M.D., Ph.D.
Director of the RVCL Research Center, Associate Professor of Medicine
jonathan.miner@pennmedicine.upenn.edu
Penn Medicine - Provider Profile
Dr. Jonathan Miner directs the RVCL Research Center at Penn. Dr. Miner has a unique background with expertise in microvascular biology and immunology, as well as specific expertise related to the cellular pathway regulated by TREX1, the gene that is mutated in patients with RVCL He is Principal Investigator on multiple NIH grants, including 2 grants related to the TREX1 pathway. Dr. Miner has over 70 publications, including papers published in top journals including Cell, Nature, Nature Medicine, Science Translational Medicine, Nature Genetics, and Journal of Experimental Medicine. Dr. Miner designed and established the ongoing clinical trial of crizanlizumab for RVCL, which utilizes an antibody therapy that originated in the laboratory of Dr. Miner's PhD mentor, Dr. Rodger McEver. The Miner laboratory also is engaged in other collaborative efforts to understand RVCL and, most importantly, to develop and test personalized therapies for RVCL.
Jennifer L. Orthmann-Murphy, M.D., Ph.D.
Co-director of the RVCL Research Center, Assistant Professor of Neurology, Mahoney Institute for Neurosciences
Penn Medicine - Provider Profile
Dr. Orthmann-Murphy directs a clinic that specializes in undiagnosed white matter disorders at Penn, and she is especially interested in helping to diagnose and treat patients with inherited white matter diseases. She is also part of the Multiple Sclerosis and related Neuroinflammatory disorders division of the Department of Neurology. In addition, Dr. Orthmann-Murphy leads a laboratory studying the role of glial cells in acquired and inherited demyelinating diseases.
Eric A. Kaiser, M.D., Ph.D.
Assistant Professor of Neurology, Penn Headache Program
Dr. Kaiser is an expert in the treatment of migraine headaches, and his studies mechanisms underlying migraine headaches and photophobia. He completed MD at the University of Iowa, his Ph.D. in Molecular Physiology and Biophysics, his residency training at the Hospital of the University of Pennsylvania, and his fellowship training at Brigham and Women's Hospital (Harvard). He currently serves as co-director of Headache Medicine at Penn.
Drew Scoles, M.D., Ph.D.
Assistant Professor of Ophthalmology
Drew H. Scoles, M.D., Ph.D. is a pediatric and adult retina specialist and assistant professor of ophthalmology at the Children’s Hospital of Philadelphia and the University of Pennsylvania in Philadelphia, Pennsylvania. His clinical expertise includes medical and surgical treatment of rare retinal disorders in patients from birth through 100+ years.
Dr. Scoles received his B.S. and Ph.D in biomedical engineering at the University of Rochester followed by his M.D. at the University of Rochester. He completed ophthalmology residency training at the University of Pennsylvania, followed by vitreoretinal surgery fellowship at Associated Retinal Consultants in Royal Oak, Michigan. He is a board-certified ophthalmologist.
Albert M. Maguire, M.D.
F. M. Kirby Professor of Molecular Ophthalmology
Penn Medicine - Provider Profile
Dr. Maguire's areas of clinical expertise are in the diagnosis and management of vitreoretinal diseases with a special interest in pediatric and genetic retinal diseases. With more than 200 scholarly articles, Dr. Maguire’s research has been published in journals such as, The New England Journal of Medicine, Lancet, Science Translational Medicine, and Nature Genetics. He has served on numerous clinical research studies, including laboratory investigations in gene therapy approaches to treat incurable retinal degenerative disease including Leber's Congenital Amaurosis—a retinal disease causing blindness in newborn infants. He has been the Principal Investigator of all of the retinal gene therapy studies carried out at Penn and CHOP on RPE65 deficiency and choroideremia. Together, Dr. Maguire and Dr. Jean Bennett are Co-Directors of the Center for Advanced Retinal and Ocular Therapeutics (CAROT). They collaborate on basic and clinical research projects with the aim of developing novel therapies for incurable retinal and macular degenerative diseases. Their research over the past 25 years resulted in implementation of the first retinal gene therapy clinical trial in the U.S. (2007, for Leber Congenital Amaurosis, LCA).This was also the first trial to carry out gene therapy for a non-lethal disease in pediatric subjects. Dr. Maguire was also the first to inject both eyes in a gene therapy clinical trial. He has been the principal investigator of the only Phase III gene therapy trial for an eye disease. This work has led to the first U.S. FDA approved gene therapy drug (Luxturna) delivered directly to human subjects. They have thus significantly advanced the potential application of gene therapy for a broad range of diseases in the eye and paved the way for uses outside of the eye.
Peter A. Merkel, M.D., M.P.H.
Professor of Medicine, Professor of Epidemiology and Biostatistics
Penn Medicine - Provider Profile
Dr. Merkel is an internationally recognized research and clinical expert in vasculitis, diseases he has studied for over 25 years, and is an author on over 300 scientific publications. Dr. Merkel is an expert on rare rheumatic disases and an international leader in clinical research. Under the leadership of Dr. Peter Merkel, the Penn Vasculitis Center is now one of the largest clinical and research centers in the world that specializes in vasculitis. He is the Principal Investigator of the NIH-Sponsored Vasculitis Clinical Research Consortium (VCRC), a leading international research infrastructure for vasculitis clinical investigation. Dr. Merkel’s research focuses on clinical trial design and conduct, outcome measure development, clinical epidemiology, genetic epidemiology, and biomarker discovery.
Rennie L. Rhee, M.D., M.S.C.E.
Assistant Professor of Medicine
Penn Medicine - Provider Profile
Dr. Rhee is the Principal Investigator of multiple NIH, foundational, and institutional research awards to study vasculitis. Her research interests include clinical and translational research in vasculitis. She led the development of a biorepository at the Penn Vasculitis Center and co-led the development of the Penn Giant Cell Arteritis Fast-Track Program.
RVCL Coordinator
Ashley Batista
RVCL Coordinator / Certified Medical Assistant
ashley.batista@pennmedicine.upenn.edu
267-600-6525
Ashley Batista has worked with Dr. Miner since 2010 and followed Dr. Miner and the RVCL team when they moved to Penn. Ashley has many years of experience working with RVCL patients and families. She works closely with Dr. Miner and the team to coordinate the REVEAL study and associated clinic visits. She also coordinates data collection for patients who chose to receive care locally rather than traveling to Penn.
RVCL Nurse Navigator
Martyna Dziemian
RVCL Nurse Navigator
martyna.dziemian@pennmedicine.upenn.edu
267-600-6525
Martyna Dziemian is our RVCL Nurse Navigator. She came to us from the Neuroscience Inpatient Unit at the Hospital of the University of Pennsylvania. Born and raised in Philadelphia, she graduated from the University of the Sciences with her B.S. and then furthered her education at Widener University by obtaining a BSN. She is committed to facilitating the support of families and patients with RVCL. Please call our dedicated RVCL phone line anytime (24/7) to reach our team: 267-600-6525
Jiayuan Fu, Ph.D.
Postdoctoral Researcher
Jiayuan Fu obtained her bachelor's degree in chemistry at Beijing Normal University. She then completed her Ph.D. training at Stony Brook University supervised by Dr. Elizabeth Boon, where she used biochemistry and genetic tools to study the molecular mechanisms related related to disease-causing bacteria. During her Ph.D., she has developed great interest in signaling pathways and has decided to elucidate the fundamental molecular mechanisms of dysregulated signaling pathways in human diseases such as autoimmune diseases and cancer. Dr. Fu is currently a postdoc researcher at Dr. Jonathan Miner’s lab, and she is focusing on identifying genes, pathways and mechanisms involved in RVCL using whole-genome CRISPR/Cas9 screens. This may lead to personalized therapies to treat RVCL.
Joe Holley, Ph.D.
Postdoctoral Researcher
Joe Holley is an expert in gene therapy and virology. After completing his Ph.D. at the University of Surrey in the UK, he worked for several years in a gene therapy company in Oxfordshire, UK. Dr. Holley is an expert in gene editing, which can be used to correct disease-causing mutations. He developing a specialized form of gene therapy (CRISPR) to correct TREX1 mutations in patients with RVCL.
Trini Ochoa, Ph.D.
Postdoctoral Researcher
Trini Ochoa received his Ph.D. in Immunology from the University of Pennsylvania in 2023. In 2024, he joined the Miner laboratory to help accelerate our development of personalized medicines for RVCL / RVCL-S. This includes small molecule drugs generated in collaboration with the University of Michigan, as well as our gene therapy for RVCL, with specialized targeting to key cells in the blood vessel wall.
Subhajit Poddar, Ph.D.
Senior Research Investigator
Subhajit Poddar completed his undergraduate training at UC Berkeley, and his Ph.D. training in the laboratory of Michael Diamond at Washington University. He then completed a postdoctoral fellowship in the laboratory of Nobel Laureate Bruce Beutler at the University of Texas Southwestern, followed by a second postdoctoral fellowship in the Miner laboratory. He is an expert molecular biologist and immunologist. Dr. Poddar moved with the Miner laboratory to Penn. Now he is working in the lab to develop personalized therapies for patients with RVCL. He is also perfoming fundamental research on RVCL, which we hope will lead to even more therapeutic options.
Sam Chauvin
MD/PhD student
Sam Chauvin is an MD/PhD student at the University of Pennsylvania Perelman School of Medicine. Before coming to Penn, he earned an undergraduate degree from Cornell University and trained as a post-baccelaureate fellow in the laboratory of Mike Lenardo at the National Institutes of Health. Sam is currently a graduate student in the Miner laboratory. His thesis work is on the role of inflammation in RVCL, which he hopes will lead to the discovery of targeted treatments for patients with RVCL.
Lindsay Kumble
Medical Student
Lindsay Kumble is a medical student at University of Pennsylvania Perelman School of Medicine (PSOM). She earned her undergraduate degree at Northwestern University in 2018 and completed her post-baccalaureate at Bryn Mawr College in 2021. Lindsay is passionate about improving outcomes in patients with chronic disease. She is is co-head and co-founder of the Palliative Care Interest Group, and she is on the board of the Rare Disease Interest Group at Penn. Lindsay is currently working with patients and families to collect family histories for the International RVCL Registry.
Clinical Trial and Research Team
Clinical Research
Manager
Sally Thompson (left) is a Clinical Research Manager in the Division of Rheumatology. She handles Institutional Review Board submissions for our clinical trials, longitudinal study, and translational research studies. She, Ashley Batista, and Martyna Dziemian play a vital role in our clinical studies, help patients during their study visits to Penn, and play major part in data collection as part of our research studies.
Worldwide collaborations
The RVCL Research Center has collaborated with researchers and physicians from around the world, including the University of Michigan, Niigata University Brain Research Institute (Japan), Monash Genetics and In Vitro Fertilization and the University of Adelaide (Australia), the National Institutes of Health (NIH), Washington University, the University of Chicago, Cleveland Clinic, University of Texas Southwestern, Mount Sinai, Institute Curie and Institute Pasteur (France), University of Edinburgh (UK), as well as with clinicians in many regions of the world including parts of Asia and Europe. Please contact us if you are interested in working together to study and find a cure for RVCL.
Learn more by exploring these links:
* RVCL or RVCL-S stands for retinal vasculopathy with cerebral leukoencephalopathy (with systemic manifestations), also known as retinal vasculopathy with cerebral leukodystrophy, cerebroretinal vasculopathy (CRV), or hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).