Early Detection & Screening for Neuromuscular Diseases - Agenda

Introductions
Duane Alexander, M.D.

Components of an Early Detection System
Piero Rinaldo, M.D. (PDF - 1.49 MB)

Traditional Qualifications for Newborn Screening
Bradford L. Therrell, Ph.D. (PDF - 2.85 MB)

Advisory Committee for Heritable Disorders and Genetics Diseases in Newborns and Children Evidence Review Workgroup: Nomination Process
R. Rodney Howell, M.D. (PDF - 245 KB)

Pompe Disease: A Journey through the Nomination Process
James Perrin, M.D. (PDF - 473 KB)

Break

Overview and Status of Neuromuscular Disorders and their Screening Potential

Myotonic Dystrophy
Richard T. Moxley III, M.D. (PDF - 298 KB)

Facioscapulohumeral Muscular Dystrophy
Katherine Mathews, M.D. (PDF - 845 KB)

Duchenne/Becker Muscular Dystrophy
Eric Hoffman, Ph.D.(PDF - 1.92 MB)

Spinal Muscular Atrophy
Thomas Prior, Ph.D. (PDF - 1.15 MB)
Kathryn Swoboda, M.D. (PDF - 1.85 MB)

Mitochondrial Disorders
Salvatore DiMauro, M.D. (PDF - 1.46 MB)

Congenital Muscular Dystrophies
Anne Rutkowski, M.D. (PDF - 711 KB)

Friedreich's Ataxia
Devin Oglesbee, Ph.D. (PDF - 1.01 MB)

Lunch

Newborn Screening for Duchenne Muscular Dystrophy – Voluntary Screening in Wales, 1990-2008
Evelyn Parsons, Ph.D. (PDF - 79 KB)

Pilot Screening for DMD
Jerry R. Mendell, M.D. (PDF - 669 KB)

Infant Screening and Diagnosis for DMD
Paul M. Fernhoff, M.D. (PDF - 480 KB)

Panel Discussion

Panel Leaders:
Alan Fleischman, M.D.
Ben Wilfond, Ph.D. (PDF - 50 KB)
Lainie Friedman Ross, M.D., Ph.D. (PDF - 48 KB)
Ben Cumbo

Current Newborn Screening Environment: Capabilities and Limitations Regarding Piloting and Expansion

Piero Rinaldo, M.D., Ph.D. (PDF - 2.0 MB)

Professional Panel: Changing Perspectives on the Benefits of Early Detection and Newborn Screening

Don Bailey, Ph.D. (PDF - 71 KB)
Scott Grosse, Ph.D. (PDF - 71 KB)
Bruce Nedrow (Ned) Calonge, M.D., M.P.H. (PDF - 80 KB)

Parent/Patient Panel: Changing Perspectives on the Benefits of Early Detection and Newborn Screening

Sharon Terry, M.A.
Patricia Furlong
Deborah Heine, J.D.
Jan Bonner

Microarray Chip Technology
Madhuri Hegde, Ph.D. (PDF - 1.53 MB)

Sequencing
Jeffrey A. Schloss, Ph.D. (PDF - 3.05 MB)

Muscular Dystrophy Association
Valerie Cwik, M.D. (PDF - 1.46 MB)

TreatNMD
John Porter, Ph.D. (PDF - 1.28 MB)

National Institutes of Health
John Porter, Ph.D. (PDF - 78 KB)

Centers for Disease Control and Prevention
Edwin Trevathan, M.D., M.P.H. (PDF - 639 KB)

Health Resources and Services Administration
Michele Lloyd-Puryear, M.D., Ph.D. (PDF - 62 KB)

Agency for Healthcare Research and Quality
Gurvaneet Randhawa, M.D., M.P.H. (PDF - 72 KB)

Discussion

Poster Session

Recommendations for Research and Public Health Infrastructure Development

Breakout Session 1: Priorities for Needed Research: Development of Therapies and Screening/Diagnostic Technologies
Louis Kunkel, Ph.D. (lead)
Daniel Perez
Robert F. Vogt, Jr., Ph.D. (rapporteur)

Breakout Session 2: Priorities for Needed Epidemiological and Clinical Studies: Natural History, Incidence, Surveillance, etc.
Paul Romitti, Ph.D. (lead)
Stuart Shapira, M.D., Ph.D. (rapporteur)

Breakout Session 3: Priorities for Needed Health Services and Health Service Outcome and Utilization Research
Gurvaneet Randhawa, M.D., M.P.H. (lead)
W. Gregory Feero, M.D., Ph.D. (rapporteur)

Breakout Session 4: Priorities for Developing Provider, Patient, and Public Education and Addressing Ethical, Legal, and Social Issues (ELSI) Topics
Sharon Terry, M.A. (lead)
Terry Davis, Ph.D.
Melissa Parisi, M.D. Ph.D. (rapporteur)

Breakout Session 5: Priorities for Creating Systems of Care from Infancy to Adulthood
Bonnie Strickland, Ph.D. (lead)
Tracey Trotter, M.D.
Valerie Cwik, M.D.
Scott Grosse, Ph.D. (rapporteur)

Break

Summary Presentations from Breakout Groups & Discussion
Louis Kunkel, Ph.D. (PDF - 43 KB)
Paul Romitti, Ph.D. (PDF - 43 KB)
Gurvaneet Randhawa, M.D., M.P.H. (PDF - 38 KB)
Sharon Terry, M.A. (PDF - 17 KB)
Bonnie Strickland, Ph.D. (PDF - 14 KB)

Closing Remarks
R. Rodney Howell, M.D.