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Patient Support Professionals

Ann Martin, MS, CGC

Director
The Duchenne Registry
Asheville, North Carolina, United States

Ann Martin, MS, CGC is a certified genetic counselor with Parent Project Muscular Dystrophy (PPMD) and Director of The Duchenne Registry (formerly DuchenneConnect).  Ann has been employed by PPMD since 2011.

Her role with the Registry includes managing data curation, handling data requests and exports, coordinating clinical trial and research study recruitment, writing educational content, and maintaining IRB approval.

Ann is married with two children and lives in Asheville, North Carolina. She loves to post blogs on muscular dystrophies and advancing research for the treatment of muscular dystrophies.

 

Representative Publications:

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials

Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy

Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype

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