Newborn Screening News and Research

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Clinical trial reveals encouraging results for apitegromab in spinal muscular atrophy

A new clinical trial has revealed encouraging results for a muscle-targeting therapy aimed at improving motor function in children and adolescents with spinal muscular atrophy, according to a study published in The Lancet Neurology.

18 Sep 2025

Machine learning model guides smarter gene selection in newborn screening

More than a decade ago, researchers launched the BabySeq Project, a pilot program to return newborn genomic sequencing results to parents and measure the effects on newborn care.

10 May 2025

Gene therapy offers hope for children born with metachromatic leukodystrophy

If administered early, gene therapy has the potential to change the medical history of children born with metachromatic leukodystrophy (MLD), a rare and lethal neurodegenerative disease of genetic origin which leads to the progressive loss of the ability to walk, talk and interact.

25 Apr 2025

Updated screening protocols could improve early diagnosis of cystic fibrosis

All states should adopt updated screening protocols so more newborns with cystic fibrosis can be diagnosed in the first weeks of life, when interventions can have the greatest benefit, according to the Cystic Fibrosis Foundation guidelines published April 2 in the International Journal of Neonatal Screening.

3 Apr 2025

New cystic fibrosis newborn screening guidelines aim for equitable detection

The United States Cystic Fibrosis Foundation released the first guideline on newborn screening for cystic fibrosis (CF), in order to improve timely detection of CF in infants from all racial and ethnic backgrounds.

3 Apr 2025

Lurie Children's launches campaign to raise awareness of newborn screening

Ann & Robert H. Lurie Children's Hospital of Chicago launched a newborn screening awareness campaign, with signage on public transit and billboards across Chicago urging parents to contact their child's pediatrician immediately if results are out of normal range.

3 Feb 2025

Two studies show potential for newborn genetic screening

Two studies published today in the American Journal of Human Genetics show the potential for genomic screening in newborns to address high rates of infant hospitalization and mortality in the United States.

9 Dec 2024

ACMG sets new lifelong guidelines for managing phenylalanine hydroxylase deficiency

Updated evidence-based clinical guidelines for phenylalanine hydroxylase deficiency diagnosis and management.

4 Dec 2024

Yourgene Health Cystic Fibrosis Base assay receives IVDR accreditation

Yourgene Health (part of the Novacyt group of companies), a leading international molecular diagnostics group, announces that it has received accreditation under the new EU requirements of the in vitro diagnostic regulation (IVDR) for the Yourgene® Cystic Fibrosis Base assay. The Yourgene Cystic Fibrosis Base assay is a Class C in vitro medical device under IVDR and is intended for use by healthcare professionals within a molecular laboratory environment.

From Yourgene Health 28 Oct 2024

DNA analysis outperforms standard newborn screening, study shows

Early results from a study of newborn screening methods show that DNA analysis picks up many more preventable or treatable serious health conditions than standard newborn screening and is favored by most parents who are offered the option.

24 Oct 2024

Gene therapy offers hope for children with cerebral adrenoleukodystrophy

Cerebral adrenoleukodystrophy (CALD) is a rare progressive, genetic brain disease that primarily presents in young boys, causing loss of neurological function and ultimately leading to early death.

9 Oct 2024

UCSF researchers move closer to predicting sudden infant death syndrome

Researchers at UC San Francisco are getting closer to being able to predict sudden infant death syndrome, or SIDS.

9 Sep 2024

Researchers create digital babies to better understand infants' health

Researchers at University of Galway have created digital babies to better understand infants' health in their critical first 180 days of life.

7 Jun 2024

Scientists identify genetic cause of rare, life-threatening immunodeficiency disorders in children

Scientists have pinpointed genetic changes that can leave children born with little to no immune defence against infection.

3 Jun 2024

AVAnT1A study: Investigating early COVID-19 vaccination and type 1 diabetes risk in children

Type 1 diabetes is an autoimmune disease that leads to disrupted glucose metabolism. It requires lifelong insulin therapy.

8 May 2024

Study investigates the potential effects of neonatal vitamin D on eczema up to adulthood

Australian researchers find that higher neonatal vitamin D levels are associated with lower odds of early-onset persistent eczema but an increased risk of early-onset resolving eczema in children up to age 25.

30 Apr 2024

Real-world data validates gene therapy for spinal muscular atrophy

Findings from a new study in the Journal of Neuromuscular Diseases, published by IOS Press, demonstrate the effectiveness of disease-modifying treatments (DMTs) in infants with spinal muscular atrophy (SMA).

15 Apr 2024

Cystic fibrosis drug found to be safe and effective in newborns

A Cystic Fibrosis drug targeting the basic defect that causes the condition has been shown to be safe and effective in newborns aged four weeks and above, new research involving RCSI University of Medicine and Health Sciences and Children's Health Ireland has found.

12 Apr 2024

Hope for PDCD and Cure Mito Foundation unveil joint patient registry

Cure Mito Foundation and Hope for PDCD foundation, both patient-led foundations focused on advancing research and supporting families affected by Leigh syndrome and Pyruvate Dehydrogenase Complex Deficiency (PDCD), respectively, are excited to announce a launch of a PDCD patient registry.

18 Mar 2024