1. “Cure Entrepreneurs” T. Craig Benson Accelerating a Cure Through Prevention: A Carrier Screening Strategy President and Chief Executive Officer Founder

2. One Girl …

3. Juvenile Batten Disease

4. Moving Forward … Taking Action

5. Beyond Batten Disease Foundation MISSION: To eradicate Batten disease.

6. Mission: Two Pronged Approach Research and Development: Raise awareness and money to accelerate research to find a cure for Batten disease. 2. Prevention: Develop an easy and inexpensive blood test to detect the gene mutations for Batten disease, and hundreds of other rare conditions like it, that claim the lives of thousands of children each year.

7. Research and Development $2.5 Million grant to Neurological Research Institute at Texas Children’s Hospital, Houston, TX Danielle Kerkovich, Ph.D.

8. Why are they orphans?

9. Some Statistics Batten Disease: 750 Adrenoleukodystrophy: 13,500 Hurler Syndrome: 500 Canavan Disease: 42,500 Spinal Muscular Atrophy: 45,000 Usher Syndrome: 16,000 Charcot Marie Tooth Disease: 125,000 Pompe Disease: 6,800 There are approximately 4,250 rare genetic diseases1 that affect 3 to 4% of all children.2 Online Mendelian Inheritance in Man European Organisation for Rare Diseases

10. How it’s inherited

11. Autosomal Recessive Disorders… You have heard of: Cystic Fibrosis Sickle Cell Anemia Tay-Sachs

13. Gaucher

14. Alpha-Mannosidosis

15. Krabbe

17. Not readily available

18. Unfamiliar to medical professionals

20. Carrier Screening The eradication of Tay-Sachs disease from the North American Ashkenazi Jewish community. First community-based screening program DorYeshorim Founded Near total disappearance of Tay-Sachs disease from the Jewish community 1971 1999 1983

21. The Success Story of Carrier Screening Tests “Tay-Sachs is the longest running, population-based program designed to prevent a lethal genetic disease. Screening has reduced the number of Tay-Sachs cases in the U.S. and Canada by 90%.” - Genome News Network

22. The Success Story of Carrier Screening Tests “The Tay-Sachs Disease experience can be viewed as a prototypic effort for public education, carrier testing, and reproductive counseling for avoiding fatal childhood disease.” - Genetic testing 1998;2(4):271-92

23. BBDF and NCGR Present Universal Carrier Screening Test : Under $500 450+ Diseases

24. Carrier Screening Impact Cases Prevented 675 12,150 450 38,250 40,500 14,400 112,500 6,120 Batten Disease: Adrenoleukodystrophy: Hurler Syndrome: Canavan Disease: Spinal Muscular Atrophy: Usher Syndrome: Charcot Marie Tooth Disease: Pompe Disease: 750 13,500 500 42,500 45,000 16,000 125,000 6,800 225,000 Total:

25. Project Timeline March 2010 June 20, 2008 Phase III Completed March 28, 2008 November 15, 2008 Christiane Diagnosis BBDF/NCGR Phase I Project Initiated Final site selection November 1, 2010 May 2011 BBDF Formed Phase II Completed Product launch August 22, 2008 February 28, 2009

26. Moore’s Law Turbocharged $100,000 $1,000 Cost of Catastrophic Gene Analysis over time $25K $3K $500 ? 2005 2007 2009 2010 2011

27. Test Process

31. Sustainability

33. Understand your assets and network

34. Leverage the above

35. Join and lead efforts with other constituents

36. Identify opportunities, obstacles and set clear targets