Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Evolution of the New York State Cystic Fibrosis Newborn Screening Algorithm: Two Decades of Experience.

Pediatric pulmonology·2026
Same author

Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease.

Neurology. Genetics·2026
Same author

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Sphingolipid-neutralizing molecular therapy reduces psychosine cytotoxicity in Krabbe disease.

iScience·2026
Same author

Universal Newborn Screening for Congenital Cytomegalovirus Using Dried Blood Spot Specimens.

JAMA network open·2026
Same author

Design of intrinsically disordered region binding proteins.

Science (New York, N.Y.)·2025
Same journal

miR-19a-3p and miR-19b-3p Promote Microglia Activation Associated With Neuroinflammation.

Journal of neuroscience research·2026
Same journal

Correction to "Chronic Nicotine and Smoke Treatment Modulate Dopaminergic Activities in Ventral Tegmental Area and Nucleus Accumbens and the γ-Aminobutyric Acid Type B Receptor Expression of the Rat Prefrontal Cortex".

Journal of neuroscience research·2026
Same journal

EXPRESSION OF CONCERN: Hypoxia-Induced Deactivation of NGF-Mediated ERK1/2 Signaling in Hippocampal Cells: Neuroprotection by Acetyl-L-Carnitine.

Journal of neuroscience research·2026
Same journal

DKK1 Targeting in Corneal Schwann Cells Rescues Axonal Regeneration and Mechanosensory Function After Corneal Injury.

Journal of neuroscience research·2026
Same journal

An Examination of Task-Evoked fMRI Data Processing in Functional Connectivity.

Journal of neuroscience research·2026
Same journal

Association of Interhemispheric Structural Integrity With Transcallosal Interhemispheric Inhibition in People With Chronic Stroke.

Journal of neuroscience research·2026
See all related articles

Related Experiment Video

Updated: Mar 15, 2026

Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
14:14

Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR

Published on: December 6, 2014

17.4K

Newborn screening for Krabbe's disease.

Joseph J Orsini1, Carlos A Saavedra-Matiz2, Michael H Gelb3

  • 1Laboratory of Human Genetics, Wadsworth Center, New York State Department of Health, Albany, New York. joseph.orsini@health.ny.gov.

Journal of Neuroscience Research
|September 18, 2016
PubMed
Summary
This summary is machine-generated.

Newborn screening for Krabbe's disease (KD) has identified a low incidence of infantile cases. Ongoing evaluation of screening processes is crucial for improving early detection and management of this rare genetic disorder.

Keywords:
GALCgalactocerebrosidaselysosomal storage disordertandem mass spectrometry

More Related Videos

State of the Art Cranial Ultrasound Imaging in Neonates
10:02

State of the Art Cranial Ultrasound Imaging in Neonates

Published on: February 2, 2015

26.4K
Recording EEG in Freely Moving Neonatal Rats Using a Novel Method
08:03

Recording EEG in Freely Moving Neonatal Rats Using a Novel Method

Published on: May 29, 2017

14.0K

Related Experiment Videos

Last Updated: Mar 15, 2026

Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
14:14

Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR

Published on: December 6, 2014

17.4K
State of the Art Cranial Ultrasound Imaging in Neonates
10:02

State of the Art Cranial Ultrasound Imaging in Neonates

Published on: February 2, 2015

26.4K
Recording EEG in Freely Moving Neonatal Rats Using a Novel Method
08:03

Recording EEG in Freely Moving Neonatal Rats Using a Novel Method

Published on: May 29, 2017

14.0K

Area of Science:

  • Medical Genetics
  • Neonatal Screening
  • Neurology

Background:

  • Krabbe's disease (KD) is a rare, severe, and progressive neurodegenerative disorder.
  • Early diagnosis and intervention are critical for managing infantile KD, though current treatments are not curative.
  • Live newborn screening programs for KD have been implemented in several US states.

Purpose of the Study:

  • To review the development and implementation of screening and follow-up algorithms for Krabbe's disease (KD) in newborns.
  • To present updated results from KD newborn screening programs in New York and Missouri.
  • To discuss lessons learned and suggest improvements for KD screening to reduce referral rates and identify infants at risk for later-onset forms.

Main Methods:

  • Analysis of data from newborn screening programs in New York and Missouri (August 2006 - August 2015).
  • Review of screening and follow-up algorithm development processes.
  • Evaluation of referral rates and confirmed KD diagnoses.

Main Results:

  • Nearly 2.5 million infants were screened, with 443 (0.018%) referred for follow-up.
  • Only five infants were diagnosed with infantile Krabbe's disease (KD).
  • The combined incidence of infantile KD in New York and Missouri is approximately 1 in 500,000 live births.

Conclusions:

  • Newborn screening for Krabbe's disease (KD) has demonstrated a low incidence of infantile cases.
  • Continuous evaluation and refinement of screening protocols are essential to optimize early detection and management.
  • Further improvements in screening algorithms are needed to reduce false positives and better identify infants at risk for later-onset KD.