Bcm Families Foundation

Programs: In 2017 the bcm families foundation continued its commitments to fund scientific projects about bcm. Particularly we continued until june 30th to support a clinical investigation at the university of pennsylvania with a $100,000 grant. Then we extended the sras with university of florida (no cost extension). Scientists have been working on clinical aspects of the cure and gene therapy development. A grant of $19,000 was delivered to university of tuebingen in germany, with the one year collaboration ending october 2017. Conclusions of all these studies have been presented by principal investigators to the bcm patient community and to a scientific audience during the atlanta meeting. Among main activities in 2017 was the atlanta first international meeting of families affected by bcm. This meeting gathered 150 people from usa, canada and europe in atlanta, ga, august 4-6th 2017, together with several scientists who discussed latest advancements in gene therapy and clinical investigations. Our biotech partner agtc participated in the meeting. Education, community building, scientists'involvement were the main objectives of the meeting. During 2017 bcmff started a project for the creation of an animal model for one of the main causative bcm mutation named c203r. Charles river laboratories created this animal model using the innovative crisp/cas9 technology. In 2017 we started a collaboration with a fundraising agency in new york, faircom ny, with the aim to create lists and contacts with big donors and to create all tools we need to approach them. An institutional brochure with insert, a power point presentation and contact letters have been created. Moreover we started building a community engagement kit and involving an ambassadors' board in public relations, advocacy and fundraising activities. A project to develop a patient registry has been started with the creation of privacy policies and consent forms.