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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

Circadian Rhythms Play a Key Role in Teen Eating Habits and Obesity

Researchers found that teens with obesity ate more later in the day than their peers of healthy weight, and that their eating behaviors were strongly influenced by their internal body clock.

18 Feb 2025

Intermittent Fasting Disrupts Development of Insulin-Producing Beta Cells in Young Mice

A recent study reveals that age plays a significant role in the outcomes of intermittent fasting. Researchers from Technical University of Munich (TUM), LMU Hospital Munich, and Helmholtz Munich discovered that chronic intermittent fasting disrupted the development of insulin-producing beta cells in young mice.

17 Feb 2025

Infant Cystic Fibrosis Linked to Stunted Microbiome Development

Findings from a new Dartmouth-led study, published in the journal mBio, highlight key differences in the gut microbiome (communities of bacteria) of infants with cystic fibrosis (CF) compared to that of healthy infants, and how these alterations may adversely affect their health.

14 Feb 2025

Immune System Insights Could Lead to Tailored Treatments for Childhood Cancer

Researchers at Karolinska Institutet and the Astrid Lindgren Children's Hospital in Sweden have determined how children's immune systems react to different kinds of cancer depending on their age.

21 Jan 2025

Epigenetic Mechanism Controls Placental Blood Vessel Formation

If the development of blood vessels in the placenta is impaired, fetal growth retardation may result. Scientists from the German Cancer Research Center (DKFZ) and the Mannheim Medical Faculty of Heidelberg University discovered that the correct development of functioning blood vessels in the mouse placenta is controlled epigenetically: One of the enzymes that modify gene activity using methyl groups is responsible.

16 Jan 2025

New Genetic Link to Autism Identified

New research published in The American Journal of Human Genetics has identified a previously unknown genetic link to autism spectrum disorder (ASD). The study found that variants in the DDX53 gene contribute to ASD, providing new insights into the genetic underpinnings of the condition.

20 Dec 2024

The Critical Role of TRiC in Brain Development and Function

In 1992, Judith Frydman, PhD, discovered a molecular complex with an essential purpose in all of our cells: folding proteins correctly.

29 Nov 2024

Brain Connectivity Surges at Birth, Study Reveals

Brain-imaging data collected from fetuses and infants has revealed a rapid surge in functional connectivity between brain regions on a global scale at birth, possibly reflecting neural processes that support the brain's ability to adapt to the external world, according to a study published November 19th, in the open-access journal PLOS Biology led by Lanxin Ji and Moriah Thomason from the New York University School of Medicine, USA.

20 Nov 2024

Study Reveals Role of Gut Microbes in Enhancing Children's Health

To address childhood malnutrition -; which affects 200 million children globally -; researchers at Washington University School of Medicine in St. Louis developed a therapeutic food that nourishes the collections of beneficial microbes that reside in the gut, and improves children's growth and other measures of their health.

25 Oct 2024

HudsonAlpha Scientists Receive NIH Grant to Enhance Genetic Testing for Rare Diseases

As genetic sequencing technology becomes more accessible and efficient, researchers have made significant strides in understanding the genetic underpinnings of various diseases. This knowledge has led to a surge in clinical applications of genetic testing, offering hope and improved outcomes for individuals affected by many genetic diseases and disorders.

5 Sep 2024