Clinical & Genetic Project

The Clinical & Genetic Core will tap the vast resources of the Mayo Clinic tradition of outstanding medical care and detailed electronic record keeping as well as the large volume of Movement Disorders patients, including those with a positive family history of parkinsonism. The major resource of our center is having access to large families with known PD genes, including those with SNCA, LRRK2, MAPT, GRN, DCTN, TDP-43, FUS, VPS35, elF4G1 and others. Through our collaborative network we also have access to other families with PRKN, PINK1, and other gene mutations. In our large families, many asymptomatic mutation carriers request clinical genetic testing; therefore they are aware of their mutation status. For this project we will consider them first since they are healthy individuals and can easily travel to our center for clinical evaluation and skin biopsy. We will also target affected individuals if their disease is in eariier stages and they can still travel alone or with minimal assistance from a companion. There are also asymptomatic mutation carriers who are unaware of their mutation status that we need to target to fulfill the proposed recruitment. These individuals are willing to participate in the research in a blinded fashion; therefore for this specific situation we will invite another family member who is not a mutation carrier. We will cover the cost of this from other grants. If needed, we will also recruit research subjects from abroad. We will pay their travel costs and will translate our consent form to their native language. We will also provide translation services in our clinic as needed. Mayo Clinic Florida has an International Department on site with interpreters who are able to assist with recruitment and consenting. They are specially trained to explain the complexities of medical procedures. We will use this service to discuss the consent form prior to making the arrangements for travel for the intemational research subjects.