Team Cure VCP
Mutations in one gene, Valosin Containing Protein (VCP or p97), are known to cause the majority of IBMPFD and leading researchers prefer to now call the disease VCP disease or Multisystem Proteinopathy. VCP disease is a unique genetic disease. It was originally termed Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) since it can lead to any one of these distinct phenotypes (even within the same family). Therefore, it is distinct from a genetic syndrome since not all phenotypes need to be present in a patient. Moreover, it has become clear that VCP mutation-carrying patients can develop ALS, Parkinson’s disease, Charcot-Marie-Tooth disease, and cataracts. Some patients have also been diagnosed with Alzheimer’s disease, dementia with Lewy bodies, Huntington’s disease, Inclusion Body Myositis, Limb-Girdle Muscular Dystrophy and distal myopathy. Because of these disparate phenotypes, it is more appropriate to use the gene name to encompass all of these phenotypes.
WHY WE ARE RIDING: This will be Cure VCP Disease's first year participating in the Million Dollar Bike Ride! Our goal is to continue to drive education and awareness of VCP disease to patients, researchers and the general population. In future years, we also wish to participate the matching campaigns offered by MDBR to engage researchers at the Penn Orphan Disease Center.