Agenda (PDF - 178 KB)
Meeting Minutes (PDF - 264 KB)
Transcript (PDF - 300 KB)
Presentations
Opening Remarks and Committee Correspondence (PDF - 155 KB)
Joseph Bocchini, MD
Committee Chair
Ad-Hoc Workgroup Update: Interpreting NBS Results (PDF - 44 KB)
Mei Baker, MD
Committee Member
Chair, Ad-Hoc Workgroup
RUSP Condition Nomination and Evidence Review Process: Summary of the Expert Advisory Panel Meeting (PDF - 283 KB)
Joseph Bocchini, MD
Committee Chair
Alex R. Kemper, MD, MPH, MS
Lead, Evidence-Based Reviews
Analyzing the Impact of Adding Conditions to the RUSP: Drafting an Approach (PDF - 250 KB)
Alex R. Kemper, MD, MPH, MS
Lead, Evidence-Based Reviews
Panel: Resources for Facilitating Rare Disease Research
James O’Leary, MBA (PDF - 744 KB)
Strategist/Community Builder
Formerly Chief Innovation Officer, Genetic Alliance
Tiina Urv, PhD (PDF - 4.6 MB)
Program Director, Office of Rare Diseases Research
National Center for Advancing Translational Sciences
National Institutes of Health
Vanessa Boulanger, MSc (PDF - 1.6 MB)
Director of Research, National Organization for Rare Disorders