Rare Disease Report

Professorship to Focus on the Possible Genetics of Tarlov Cyst Disease

SEPTEMBER 23, 2015
James Radke, PhD
The Reta Honey Hiers Professorship for Tarlov Cyst Disease was recently awarded to Hal Dietz, MD at Johns Hopkins University School of Medicine in Baltimore, MD. The professorship is funded by private donations of $1.25 million from private donations as well as $1.05 million matching funds from the Maryland E-Nnovation Initiative Fund (MEIF) program.
Dr Dietz is a professor of pediatric cardiology; the Victor A. McKusick Professor of Genetics in the departments of Medicine, Pediatrics, and Molecular Biology and Genetics at the Johns Hopkins University School of Medicine; director of the William S. Smilow Center for Marfan Syndrome Research; and a member of the McKusick-Nathans Institute for Genetic Medicine.
Tarlov/perineural cysts are CSF-filled sacs that form within spinal nerves, causing life-altering pain and multi-systems symptomatology. They are most prevalently located at the S2, S3 level of the sacrum. Unfortunately, the condition is not fully understood and is likely to go undiagnosed in many patients for years. The cysts occur most prevalently in women (92%) vs. men (8%) in reported symptomatic cases, and the mean age group at onset of symptoms is 30-50 years of age.
The professorship will focus on the development of an integrated Maryland Tarlov Cyst Initiative that will advance research and clinical care relevant to neurogenetics and interventional neuroradiology as well as in other clinical specialties such as neurosurgery, neurology, urology, pain management and gastroenterology, etc. in the study, management and treatment of Tarlov Cyst Disease.
In an interview with Rare Disease Report, Reta Honey Hiers, founder of the Tarlov Cyst Disease Foundation said that having a professorship named after her was “a gratifying and humbling experience. I am very grateful to the donors for their generosity and to be honored in this way.”
Ms Honey Hiers is hopeful that having someone of Dr Dietz’ caliber and reputation will exponentially advance our understanding of Tarlov cysts. Ms Honey Hiers said, “it is gratifying and exciting to have Dr. Dietz as the principal investigator in this research and education to provide improved understanding of Tarlov/perineural cysts, causal relationships and multi-systems symptomatology. While there is significant clinical evidence of a potential relationship with Tarlov/perineural cysts developing due to trauma and possible connective tissue disorders (CTD), Dr. Dietz and his team of geneticists have the Smilow Genetics Center resources/data bases, and a wealth of knowledge and experience in CTDs, such as Marfan's, Ehlers Danlos, Loeys-Dietz, etc., to better understand the possible etiology of Tarlov cysts.”
A possible genetic component to Tarlov cyst disease is also of great interest and will be the initial focus of the research. Ms Honey Hiers said, “Genetic studies in Tarlov cyst patients with "familial" cases (two or more in one family) will be the initial phase of the research initiative. Published results of findings will improve medical education and enhance awareness in the medical community at large. Hopefully the research will enhance interest as well as develop new interest by educating medical students and in post-graduate residencies and fellowships in multiple clinical specialties!”
For more information about Tarlov cyst disease, visit www.tarlovcystfoundation.org

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