Kumskova expands Ehlers-Danlos syndrome research with mentored grant

Mariia Kumskova, MD, a postdoctoral research scholar in the lab of Anil Chauhan, MTech, PhDreceived a two-year, $165,000 Hemostasis & Thrombosis Research Society Mentored Research Award (MRA) for her project “Define the mechanism of bleeding in Ehlers–Danlos syndrome.” Chuahan and Janice Staber, MD, associate professor of Pediatrics, will serve as Kumskova’s mentors on the project.

Ehlers-Danlos syndrome (EDS) is a hereditary heterogenous group of connective tissues disorders that affects collagen synthesis. People with EDS live with chronic pain, joint hyperflexibility, and skin fragility every day. In addition to that, EDS is known to be associated with an increased risk of bleeding.

“The mechanism of bleeding in EDS is still poorly understood. And without understanding it, we cannot provide the EDS community with the necessary help,” Kumskova said. “I hope that our study will shed the light on the underlying mechanisms of bleeding in EDS.”

Kumskova’s MRA proposal focuses on investigating the mechanism of bleeding in EDS using human and mouse samples. With Chauhan and Staber’s support, Kumskova aims to examine the quantity and quality of various platelet surface receptors, as well as their downstream signaling and interconnection with extracellular matrix components. In addition, using the mouse model of EDS, she will study platelet interaction with abnormal extracellular matrix cultured from the EDS mouse model and how it affects the bleeding phenotype in EDS.

“I am very grateful for the infinite support and encouragement of Dr. Chauhan,” says Mariia. “It is very important to know that your PI has your back, it gives you the foundation to reach for the stars. I am also thankful for the mentorship and wisdom of Dr. Staber, my clinical mentor in this proposal, and never-ending guidance of Dr. Steven Lentz. You cannot wish for a better and stronger mentorship than this.”

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