Fibrous Dysplasia and McCune-Albright Syndrome

1. A Rare Disease Fibrous Dysplasia A great opportunity for research when considered with 7000 other rare diseases.

2. Goal Outline a thought process that can be employed by governing, academic and commercial institutes in setting policy and research guidelines towards finding cure for rare diseases. NIH (National Institutes of Health) , National Organization for Rare Disorders (NORD) and other national institutions can oversee the required data collection.

3. Rare Disease A debilitating disease affecting less than 200,000 people in the United States. In some cases you will notice Orphan disease being used as a synonym for rare disease. Over 7000 rare disease exist currently that affect a total population of 300 million people worldwide.

4. Governing and Academic Institutes Dilemma How do we rollout policies that will have the most far-reaching impact yet don’t leave section of communities behind. How can we facilitate research that is not by preference but by priority. What policies and preferences can make the underserved a priority. What priorities can collectively make healthcare advance to shape better human care.

5. Commercial and Funding Institutes Dilemma How do we take up priorities that make financial sense. How can a charity or a fund disperse grants that will put the dollar to the best use.Will the regulatory bodies take the affected population statistics/needs into consideration for clearing trials. How sustainable will the financial projections be for a drug innovation lifecycle.

6. NOT Divide and Discover but SUM UP and Innovate Let’s assume that each Rare Disease is a slice of Pizza. We then define the TIP of the slice. One immediate challenge that needs to be addressed in progressing cure or care for a given rare disease by one step forward. Fibrous Dysplaysi a 1.5 Million People Research Begins Cure Available 1 Million People 1.2 Million People 2 Million People 10 Million People 100K People Cystic Fibrosis LGDA Congenital Muscular Dystrophies RASopathies Mucopoly saccharid oses Gene Mutation Gene Degeneration Gene Mutation Bone Growth Muscle Tissue Bone Strength Important: Data and the names used below are not accurate and used only for conveying the message.

7. NOT Divide and Discover but SUM UP and Innovate 1.2 Million People Rare Diseases Hurdles 1 Million People 1.5 Million People 2 Million People 10 Million People 100K People 1 Million People 100K People 1.5 Million People 1 Million People 1 Million People 1 Million People 1 Million People CellReproduction Fibrous Dysplaysi a Cystic Fibrosis LGDA Congenital Muscular Dystrophies RASopathies Mucopoly saccharid oses Team AFCRI- CBIO Team NTSAD Hemophilia CMD Castleman Disease FARA Mucopolys accharido ses Hurdle2 Hurdle3 - 30 Million Population - Research focused on Gene Mutation - Drug Innovations to address this cross section - 70 Million Population - Research focused on Bone Regeneration - Drug Innovations to address this cross section - 70 Million Population - Research focused on Cell Reproduction - Drug Innovation to address this cross section The idea is to view a set of rare diseases together and overcome a core hurdle that can have a larger scientific and commercial impact.

8. NOT Divide and Discover but SUM UP and Innovate The idea is to have the national and international governing and research bodies look at the Rare Disease research and drug innovation as a collaborative effort. Where in, they bring together the best minds in each individual rare disease research and have them define the one hurdle they are working on to further cure or research. Collaboration and funding for causes that have similar hurdles are then taken up by governing and commercial entities.

9. NOT Divide and Discover but SUM UP and Innovate The premise is simple. Join the data sets available for all rare diseases by the tip and arrive at a big picture overview that the research and drug innovation communities can look at and work on. With on-going progress made in research and innovation, the challenges pizza keeps evolving, the dials keep shifting, priorities and focus gets re-aligned. Unlike other diseases where the symptoms and the cause are well defined, it is imperative that for Rare Diseases' the community should adopt an approach that can enable collective research and breakthrough while also making it a commercially viable, scientifically far reaching undertaking for drug discovery companies and academic/governing policy makers respectively.

10. Action Items for Each Rare Disease Community Rare Disease Name N Million Affected People Now Have Better Care From Focused Research To Enhanced Cure/Care Description of First Hurdle to Advance Cure and Discovery Hurdle 2 Hurdle 3 Hurdle 4 Hurdle 5 Breakthrough Time Line To Enhanced Cure/Care Year 2015 Effort/Progress Summary Identify the list of practicing, academic and affected population representatives that can define a given Rare Diseases' pizza pie and TIP. What are the 1 or 2 immediate things that need to be addressed to achieve progress with care or research for a given Rare Disease ? Send the pie/data to NIH, NORD , Academia etc. as input to an RFP announcement for research grants and monitor progress over multiple years.

11. Real Test Case: Valid Data from Fibrous Dysplasia Foundation’s Effort Fibrous Dysplasia/ McCune Albright Syndrome N Million Affected People Now Have Better Care From Focused Research To Enhanced Cure/Care Improve understanding of disease or pathophysiology manifestations Hurdle 2 Hurdle 3 Hurdle 4 Hurdle 5 Breakthrough Time Line To Enhanced Cure/Care Year 2015 Effort: $ 117K Raised for 2 $ 58K Research Grants Progress: Awaited Under the leadership of Cindi & Fred, members from the foundation raised $117 K by participating in Million Dollar Bike Ride 2015. The foundation’s Scientific Advisory committee , Board and others, drafted the content for Request for Application’s(RFA). Two grants of $58,500 are sponsored and RFA posted to academia/research communities for applications.

12. Summary Our reasoning is simple. By following a cohesive collaborative effort within each affected population group and at the larger governing, academic, commercial and funding organizations level, one can clearly see and articulate the impact of the policies they are setting, research they are doing, business they are targeting and population they are affecting respectively.

13. Thank You For Enquires About Research grants Collaborating for research with the Foundation Helping us, to support research, outreach and care Contact us at info@fibrousdysplasia.org Follow Us to Support Us and Stay Informed about Updates Twitter: @curefdmas | Web: http://www.fibrousdysplasia.org

14. References http://www.fibrousdysplasia.org http://www.med.upenn.edu/orphandisease/rare-disease-overview.shtml http://www.milliondollarbikeride.org http://www.nih.gov http://rarediseases.org http://www.milliondollarbikeride.org/team/fibrous-dysplasia-team/

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