Krabbe Newborn Screening and Diagnosis
Newborn screening can also identify babies at risk for later onset Krabbe disease. Practice guidelines for management and subsequent follow-up of babies diagnosed through newborn screening are available.
Currently, 10 states include Krabbe Disease in their newborn screening panels and the condition is under review for inclusion on the Recommended Uniform Screening Panel by the Advisory Committee on Heritable Disorders in Newborns and Children.
The course is led by Joanne Kurtzberg, MD (Duke Medical University), Dr. Dietrich Matern, MD, PhD (Mayo Clinic), and Joseph Orsini, PhD (Wadsworth Center).
Keywords: Krabbe Disease, Globoid Cell Leukodystrophy, Newborn Screening, Krabbe Leukodystrophy, GALC Deficiency, Galactocerebrosidase Deficiency, Infantile Globoid Cell Leukodystrophy, Krabbe’s Disease, Krabbe’s Leukodystrophy, Late-Onset Globoid Cell Leukodystrophy, Leukodystrophy, Globoid Cell, Classic, Leukodystrophy, Globoid Cell, Early-Onset, Leukodystrophy, Globoid Cell, Infantile, Leukodystrophy, Globoid Cell, Late-Onset
Target Audience
- Geneticists
- Genetic Counselors
- Neurologists
- Nurse Practitioners
- Nurses
- Pediatricians
Learning Objectives
Participants who engage in this educational intervention will be able to:
- Become familiar with the pattern of inheritance and clinical manifestations of Krabbe disease.
- Learn about the need for newborn screening for Krabbe disease, understanding the critical need for early diagnosis and treatment.
- Interpret the results of a newborn screening report to understand whether a baby has or is at risk for developing Krabbe disease.
In accordance with the ACCME® Standards for Integrity and Independence in Accredited Continuing Education, Standard 3, all in control of content must disclose any relevant financial relationships. The following in control of content had no relevant financial relationships to disclose.
Joseph Orsini, PhD
Deputy Directory of the Newborn Screening Program
New York State Department of Health
The following persons in control of content disclosed the following financial relationships which were reviewed via the MCW conflict of interest mitigation process and addressed.
Name | Company | Role |
Joanne Kurtzberg, MD Jerome Harris Distinguished Professor of Pediatrics Professor of Pathology Director, Marcus Center for Cellular Cures Director, Pediatric Blood and Marrow Transplant Program Duke University Medical Center | CryoCell International | Consultant |
Joanne Kurtzberg, MD Jerome Harris Distinguished Professor of Pediatrics Professor of Pathology Director, Marcus Center for Cellular Cures Director, Pediatric Blood and Marrow Transplant Program Duke University Medical Center | Celularity | Advisory Committee |
Joanne Kurtzberg, MD Jerome Harris Distinguished Professor of Pediatrics Professor of Pathology Director, Marcus Center for Cellular Cures Director, Pediatric Blood and Marrow Transplant Program Duke University Medical Center | Neurogene | Consultant |
Dietrich Matern, MD, PhD Professor of Laboratory Medicine and Pathology, Medical Genetics, and Pediatrics Co-Director, Biochemical Laboratory Mayo Clinic, Rochester, MN | Neurogene | Advisory Committee |
ACCME Accreditation Statement:
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of the Medical College of Wisconsin and Hunter's Hope. The Medical College of Wisconsin is accredited by the ACCME to provide continuing medical education for physicians.
AMA Credit Designation Statement:
The Medical College of Wisconsin designates this live activity for a maximum of 1 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Hours of Participation for Allied Health Care Professionals:
The Medical College of Wisconsin designates this activity for up to 1 hours of participation for continuing education for allied health professionals.
Available Credit
- 1.00 AMA PRA Category 1 Credit(s)™AMA PRA Category 1 Credit(s)™
- 1.00 Hours of ParticipationHours of Participation credit.