A Unique Partnership to Advance Alzheimer's Research through Whole Genome Sequencing.

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Bartholomew James
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1 A Unique Partnership to Advance Alzheimer's Research through Whole Genome Sequencing. Dean Hartley, Ph.D., Alzheimer's Association, Emily Drabant, Ph.D., 23 and me, Anne Wojcicki, 23 and me, Rob Fetherstonhaugh, The Brin Wojcicki Foundation, Heather Snyder, Ph.D., Alzheimer's Association, William Thies, Ph.D., Alzheimer's Association, and Maria Carrillo, Ph.D., Alzheimer's Association

2 A Unique Alliance Against Alzheimer s New Alliance: Alzheimer s Association, Alzheimer s Disease Neuroimaging Initiative, and Brin Wojcicki Foundation Objective: Conduct whole genome (DNA) sequencing on one of the most well characterized disease population: the ADNI Cohort studying Alzheimer s disease. Goal: To provide an unprecedented access to genetic information for identifying important associations between a person genetic profile and Alzheimer s disease.

3 Alzheimer s Disease A Global Crisis Over 5 million American s with Alzheimer s Worldwide nearly 36 million with Alzheimer's

4 Alzheimer s and Mortality 6 th leading cause of death Deaths from Alzheimer s increased 66% (between ) No treatments to slow or prevent Alzheimer s

5 A Unique Alliance for Rapid Discovery alzheimer s association the brin wojcicki foundation

6 Alzheimer s Association The Alzheimer s Association is the world s leading voluntary health organization in Alzheimer care, support and research. The mission of the Alzheimer s Association s is to: eliminate Alzheimer s disease through the advancement of research to provide and enhance care and support for all affected to reduce the risk of dementia through the promotion of brain health.

7 Brin Wojcicki Foundation The Brin Wojcicki Foundation was established by Sergey Brin and Anne Wojcicki. The Brin Wojcicki Foundation's mission is to: effect world change in Parkinson's research and neurodegenerative diseases to develop opportunities for those in need in poverty, health and education to support transformational and disruptive research

8 Alzheimer s Disease Neuroimaging Initiative A Unique Model of Open Access Michael Weiner, MD University of California, San Francisco Robert C. Green, MD, MPH Brigham and Women s Hospital, Harvard Medical School Neil Buckholtz, PhD National Institute on Aging (NIA)

9 ADNI - Private/Philanthropic/Public Partnership Industry partners (20) Philanthropic partners Foundation of the NIH National Institute on Aging Acquisitions Sites (59)

10 ADNI Participating Sites

11 Alzheimers Disease Neuroimaging Initiative (ADNI) ADNI is public-private partnership to increase our understanding of Alzheimer s disease ADNI is longitudinal study to evaluated the value of neuroimaging and other biomarkers to determine the onset and progression of Alzheimer s disease.

12 Neuroimaging RED = maximum uptake VIOLET = minimum uptake Clark et al. (2011) JAMA 305(1).

13 Alzheimer s Continuum & ADNI Normal EMCI MCI AD

14 DNA Encodes Proteins Down s Patients Have an Extra Copy of the Amyloid Precursor Protein

15 DNA is the Blue Print for Life Nature Biotechnology 30, (2012)

16 Cost per Human Genome Sequencing Costs are Dropping Reduction in the cost of DNA sequencing help to driving the project Costs will continue to drop over time, make this more assessable.

17 Whole Genome Sequencing The inspiration for this project is the ANDI data set The approach is applicable to most diseases.

18 MOU and Financial Costs The Brin Wojcicki Foundation will provide at least $1 million. The Alzheimer's Association will provide $1 million. Upon completion and certification by ADNI that the services have been performed satisfactorily and are completed. lllumina will be running the sequencing for the project.

19 Populations for Sequencing ADNI Participants Sent for Sequencing Population Number of Participants AD 128 MCI 415 Controls 267 Unstable 8 TOTAL 818

20 Information Flow Patients ADNI Alzheimer s Disease Neuroimaging Initiative (ADNI) DATA Hard Drives LONI/ ADNI Quality Control Data Repository Data Requests Data - No Charge National Cell Repository for Alzheimer's Disease (NCRAD) NCRAD DNA (ID) Illumina, Inc. Scientific Communities

21 Access to ADNI Data How to Apply for ADNI Data o Data Sharing and Publication Policy o Data Use Agreement o ADNI Manuscript Citations o Group Acknowledgements List

22 Progress Initial Discussions MOU DNA Sequencing Data Quality Control All Sequencing Data Released Further Development: Cloud Computing Distribution and Analytics Early 2012 June 2012 Dec 2012 Spring/Summer 2013

23 Potentially groundbreaking importance: The ability to match highly-robust cognitive, biochemical and neuroimaging data with newly-generated gene sequence data. The ability to mine for novel targets for risk assessment, new therapies, and much-needed insight into the causes of this devastating brain disease.

24 Potential of the Data Set The Data will help to identify a gene or multiple genes Increase risk Induce disease initiation Effect the progression of the disease Identify targets for therapy Possibly suggest individualized risks and treatments

25 Are we ready for Big Data?

Global Alzheimer s Association Interactive Network (GAAIN) - To Speed Sharing and Discoveries Program Development Committee: Maria Carrillo, Ph.D. - Alzheimer s Association Art Toga, Ph.

26 Global Alzheimer s Association Interactive Network (GAAIN) - To Speed Sharing and Discoveries Program Development Committee: Maria Carrillo, Ph.D. - Alzheimer s Association Art Toga, Ph.D. UCLA, Laboratory of Neuro Imaging Giovanni Frisoni, M.D., Nat. Ctr. Alzheimer s Disease Research and Care, Italy.

27 Global Alzheimer s Association Interactive Network (GAAIN) - To Speed Discoveries GAAIN is a cloud-based computing data repository to share data available by the world s foremost Alzheimer s researchers. GAAIN will provide tools and access to data for scientists all over the world to explore a vast, interlinked network of both basic and clinical data. Collaborators: Rhett Alden, GE Healthcare Enrique Castro-Leon, Intel Alon Halevy, Google

28 Big Data How will we comprehend? 90% of digital data is < 2 years old 80% of the data in unstructured 800% increase in data over next 5 years Watson Ushering in a new era of computing

Summary A visionary partnership that saw an opportunity to: 1) move quickly to generate a unique data set for Alzheimer s Community 2) provide an opportunity to share

29 Summary A visionary partnership that saw an opportunity to: 1) move quickly to generate a unique data set for Alzheimer s Community 2) provide an opportunity to share important data worldwide 3) expedite the discovery process with the goal of changing the course of Alzheimer s disease. alzheimer s association the brin wojcicki foundation

Heather M. Snyder, Ph.D. Director, Medical & Scientific Relations

Heather M. Snyder, Ph.D. Director, Medical & Scientific Relations 1 Overview Landscape of Alzheimer s disease National Plan to Address Alzheimer s disease More information about the Alzheimer s Association