These Million Dollar Bike Ride Pilot Grants were made possible by the fundraising efforts of Joe Martucci, Sienna Otto, Eli Wallace, Raina Halford, John Rendinaro & Lynn Butterworth, Joshua Ferris, Ferdinand & Lori Maloney, and Samer Badr. We are also grateful for a supportive gift from Ipsen, as well as a generous match from the Penn Medicine Orphan Disease Center.
2019 Grant Awardees
Elucidating the Role of Marrow-resident Myeloid Cells in FOP
Principal Investigator: Shailesh Agarwal, MD
Institution: Brigham and Women's Hospital, Harvard University
Country: United States
Award Amount: $40,208
Project Descriptions: Fibrodysplasia ossificans progressiva (FOP) is a genetic disease that results in substantial morbidity for patients due to the formation of extra-skeletal bone. Bony lesions in FOP patients typically occur after patients have had an injury; even minor injuries such as vaccinations can lead to these bony lesions. This finding has led us to consider how inflammation is involved in this process. In this project, we will examine how the genetic mutation responsible for FOP changes the way that immune cells in the bone marrow function. We will then develop a strategy that would allow us to genetically "edit" the mutation in bone marrow cells obtained from the patient, and perform bone marrow transplantation back into the patient.
Assessment of Disease Activity in FOP Patients Using Electrical Impedance Myography
Principal Investigator: Jaymin Upadhyay, PhD
Institution: Boston Children's Hospital, Harvard Medical School
Country: United States
Award Amount: $40,208
Methods such as MRI or PET/CT can be used to monitor FOP disease activity or potential treatment responses. However, for some FOP patients, undergoing imaging procedures may be a difficult process. Electrical impedance myography (EIM) is a handheld, painless and bedside technique in which muscle tissue integrity is assessed. Pathological factors such as muscle inflammation and atrophy as well as increases in HO can substantially alter the EIM signal. In this study, we aim to evaluate EIM as a tool to detect and monitor disease activity in FOP patients.
These Million Dollar Bike Ride Pilot Grants were made possible by the fundraising efforts of Joe Martucci, Sienna Otto, Eli Wallace, Raina Halford, John Rendinaro & Lynn Butterworth, Joshua Ferris, Ferdinand & Lori Maloney, and Samer Badr. We are also grateful for a supportive gift from Ipsen, as well as a generous match from the Penn Medicine Orphan Disease Center.
