2026-2027 Rare Disease Digital Series, Sponsored by The Harriet Joyce Foundation

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This course is made possible by the Harriet Joyce Foundation and will launch in early 2026. The intended audience for this course is physicians and healthcare professionals in countries with limited newborn screening.

Each module section features a thirty-minute webinar with

  • Didactic Lecture
  • Case study or expert interview
  • Implementation tips / Q&A with providers, caregivers, or patients
  • Printed learning material – quick-reference guides

Course modules and sections may be accessed in any order. Upon completion of the course, learners may download a certificate of completion.

Wendy K Chung, MD, PhD

Chief, Department of Pediatrics, Boston Children’s Hospital
Mary Ellen Avery Professor of Pediatrics, Harvard Medical School

Stephanie Sacharow, MD

Director, Dr. Harvey Levy Program for Phenylketonuria and Related Conditions; Attending Physician, Division of Genetics and Genomics,
Boston Children’s Hospital
Assistant Professor, Harvard Medical School

Bill Brucker, MD

Geneticist, Division of Genetics, Boston Children’s Hospital
Instructor in Pediatrics, Harvard Medical School


Melinda Peters, MD

Attending Physician, Division of Genetics and Genomics,
Boston Children’s Hospital
Instructor, Harvard Medical School


Allissia Gilmartin, MD

Geneticist, Division of Genetics, Boston Children’s Hospital


Amy Kritzer, MD

Clinical Chief, Division of Genetics and Genomics; Director, Metabolism Clinical Program, Boston Children’s Hospital
Assistant Professor, Harvard Medical School


Stacy E. Croteau, MD, MMS

Medical Director, Boston Bleeding Disorders Center,
Boston Children’s Hospital
Assistant Professor of Pediatrics, Harvard Medical School


Ari Wassner, MD

Medical Director, Thyroid Center; Director, Endocrinology Fellowship Training Program; Senior Associate Physician, Division of Endocrinology, Boston Children’s Hospital
Associate Professor of Pediatrics, Harvard Medical School


Pam Hawley,MS, CGC

Genetic Counselor, Division of Genetics and Genomics, Boston Children’s Hospital


Gregory Sawicki, MD, MPH

Director, Cystic Fibrosis Center; Director, Safety and Quality Improvement, Boston Children’s Hospital
Associate Professor of Pediatrics, Harvard Medical School


Gerry Berry, MD

Attending Physician, Division of Genetics and Genomics,
Boston Children’s Hospital
Professor of Pediatrics, Harvard Medical School


Basil Darras, MD

Associate Neurologist-in-Chief; Chief, Division of Clinical Neurology; Director, Neuromuscular Center and Spinal Muscular Atrophy Program, Boston Children’s Hospital
Professor of Neurology, Harvard Medical School


Partha Ghosh, MD

Neurologist, Department of Neurology, Boston Children’s Hospital
Associate Professor of Neurology, Harvard Medical School


Craig Platt, MD, PhD

Immunologist, Division of Immunology; Director, Flow Cytometry,
Boston Children’s Hospital
Assistant Professor of Pediatrics, Harvard Medical School


Monica Wojick, MD, MPH

Attending Physician, Divisions of Newborn Medicine and Genetics and Genomics, Boston Children’s Hospital
Assistant Professor of Pediatrics, Harvard Medical School


Emma Jannotta, DNP, APRN, CPNP-PC

Metabolism Nurse Practitioner, Division of Genetics and Genomics,
Boston Children’s Hospital


Gwen Strickland, MS

Genetic Counselor, Boston Children’s Hospital


Susan Waisbren, PhD

Neuropsychologist, Boston Children’s Hospital
Professor of Pediatrics, Harvard Medical School


TBD

Boston Children’s Hospital
Harvard Medical School


Course Content

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Module 1: Foundations and Framework 2 Sections