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Scientists Discover New Rare Genetic Disease Using Whole Exome Sequencing

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease.

15 Apr 2026

Early Epigenetic Changes and Gut Microbiome Interact to Shape Neurodevelopment

The gut microbiome and epigenetics-molecular switches that turn genes on or off-are intertwined, and both contribute to neurodevelopment, finds a study publishing April 10 in the Cell Press journal Cell Press Blue.

13 Apr 2026

Non-Coding DNA Mutations Identified as Cause of Rare Neonatal Diabetes

Scientists have found new genetic causes for diabetes in babies – in a part of the genome that has historically been overlooked in genetic studies.

10 Apr 2026

Researchers Discover Prenatal Genetic Origins of Childhood Absence Epilepsy

Researchers at Baylor College of Medicine have uncovered a previously unrecognized mechanism by which inherited calcium channel mutations disrupt early brain development and predispose children to epilepsy and related cognitive challenges.

6 Apr 2026

Fusion Protein Rewires Brain Development to Trigger Pediatric Cancer

A team of researchers at Baylor College of Medicine, St. Jude Children's Research Hospital, Texas Children's Hospital and collaborating institutions reveal in the journal Nature a novel mechanism that drives the development of pediatric supratentorial ependymoma (EPN), the third most common pediatric brain tumor.

28 Mar 2026

Small RNAs in the Sperm Guide the Earliest Stages of Embryonic Development

Mounting evidence from research on nematodes to mice indicate that a father's environment, such as what he eats or if he is exposed to stress or toxicants, can lead to metabolic and behavioral disorders in his offspring.

20 Feb 2026

Early Social Life Influences Infant Gut Bacteria

Social interaction among babies in their first year of life influences and enriches the diversity of their gut microbial strains, based on the findings of a study on microbiome transmission.

22 Jan 2026

Genetic Insights Reveal Key Drivers of Bone Density in Children

Researchers at Children's Hospital of Philadelphia (CHOP) revealed important genetic components that affect bone density in children and adolescents.

20 Nov 2025

Longevity Gene from Centenarians Reverses Heart Damage in Rare Genetic Disorder

A new breakthrough in a rare genetic disease which causes children to age rapidly has been discovered using 'longevity genes' found in people who live exceptionally long lives - over 100 years old.

16 Oct 2025

Biological Effects of Childhood Abuse Uncovered Through Epigenome-Wide Analysis

Child maltreatment, which includes abuse and neglect, is one of the most serious public health concerns worldwide.

16 Oct 2025

Engineered Base Editor Corrects ACTA2 Mutation in Rare Childhood Disease

Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare condition associated with stroke, aortic dissection (tearing) and death in childhood.

13 Sep 2025

Missing Microexons Disrupt Synapse-Related Proteins in Pediatric Glioma

A new study, led by researchers at Children's Hospital of Philadelphia (CHOP), identified tiny pieces of messenger RNA that are missing in pediatric high-grade glioma tumors but not in normal brain tissues.

19 Aug 2025

Microbes Help Shape the Developing Brain Before and After Birth

New research from Michigan State University finds that microbes play an important role in shaping early brain development, specifically in a key brain region that controls stress, social behavior, and vital body functions.

14 Aug 2025

Maternal Genetics May Play a Larger Role in Child’s Weight Than Paternal Genes

A mother's genetics may play a bigger role in determining whether a child becomes overweight than a father's, as a result of a concept known as genetic nurture, finds a new study led by UCL researchers.

6 Aug 2025

New Study Highlights Increased COVID-19 Risk for Adult Childhood Cancer Survivors

Even decades after their diagnosis, those who survived childhood cancer are more likely to get severe COVID-19.

7 Jul 2025

Zebrafish Model Offers Hope for Treating Ultra-Rare Muscle Disease

Can a small fish help identify possible treatments for an ultra-rare inherited disease found in an Alabama boy? The genetic disease is XMEA, which progressively weakens the muscles and can affect the liver and heart.

6 Jun 2025

Genetic Sequencing Leads to Major Discovery in Neurodevelopmental Disorders

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs).

11 Apr 2025

New Brain Organoid Model Reveals How Microglia Respond to Viral Infections

Organoids have revolutionized science and medicine, providing platforms for disease modeling, drug testing, and understanding developmental processes.

4 Apr 2025

CD11c Microglia Play Key Role in Neurodevelopmental Delays from Maternal Inflammation

A research group led by Nagoya University Graduate School of Medicine in Japan has uncovered a potential mechanism linking maternal inflammation to delayed neurodevelopment in infants.

2 Apr 2025

Genomics can Transform Care for Children with Rare Diseases

A simple genomics blood test could improve treatment and care for childhood epilepsy, but more investment is needed to make access fair and securely join up the data, finds a new study involving researchers at University College London (UCL) and Great Ormond Street Hospital for Children (GOSH).

8 Mar 2025