Pediatrics News and Research

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Pediatrics is the branch of medicine that deals with the medical care of infants, children, and adolescents. The age limit of such patients ranges from birth to 18. In countries where the age of majority is 18, this age limit may be from birth to age 17 (such as in Canada). A medical practitioner who specializes in this area is known as a pediatrician.

Study uncovers new gene variants that may cause inherited retinal dystrophies

An international team of researchers, led by scientists at University of California San Diego and Shiley Eye Institute at UC San Diego Health, has broadened and deepened understanding of how inherited retinal dystrophies (IRDs) affect different populations of people and, in the process, have identified new gene variants that may cause the diseases.

20 Oct 2021

AI-powered tool rapidly identifies genetic causes of rare disorders with high accuracy

An artificial intelligence (AI)-based technology rapidly diagnoses rare disorders in critically ill children with high accuracy, according to a report by scientists from University of Utah Health and Fabric Genomics, collaborators on a study led by Rady Children's Hospital in San Diego. The benchmark finding, published in Genomic Medicine, foreshadows the next phase of medicine, where technology helps clinicians quickly determine the root cause of disease so they can give patients the right treatment sooner.

From The University of Utah 18 Oct 2021

New research center brings advancements in genomic medicine to admixed individuals

One way to make health care more personalized is to use a person's DNA sequence -; or genome -; to predict their risk of disease. But as the field of precision medicine grows, so have concerns that we may be leaving a large fraction of Americans out.

From UC San Diego 13 Oct 2021

Study finds higher levels of air pollutants in regions near oil and gas wells

In a 14-year analysis of air quality across California, Stanford researchers observed higher levels of air pollutants within 2.5 miles of oil and gas wells, likely worsening negative health outcomes for nearby residents.

13 Oct 2021

Supercoiling and looping can transmit mechanical stress along the DNA backbone, shows study

When people think of DNA, they visualize a string-like double helix structure. In reality, the DNA double helix in cells is supercoiled and constrained into loops. This supercoiling and looping are known to influence every aspect of DNA activity, but how this happens has not been clear.

28 Sep 2021

Discovery may offer a promising new path for the study of multiple sclerosis

A surprising discovery may offer a promising new direction in the study of multiple sclerosis and other diseases of hypomyelination – when axons of neurons are not covered sufficiently in fatty sheaths (myelin), which disrupts communication between nerve cells.

23 Sep 2021

Healthy diet improves weight and reduces cardiovascular disease risks in overweight children

A Cleveland Clinic-led research team found that statistically overweight children who followed a healthy eating pattern significantly improved weight and reduced a variety of cardiovascular disease risks.

22 Sep 2021

Scientists find two proteins that pair up to build lifelines to cancer cells

In human cancer cell and mouse studies, researchers from Johns Hopkins Medicine have found that a set of proteins work in tandem to build supply lines that deliver oxygen and nutrients to tumors, enabling them to survive and grow.

21 Sep 2021

Scientists develop lung organoids to imitate actual SARS-CoV-2 infection

The emergence of the COVID-19 pandemic in the United States in early 2020 left researchers struggling to identify lab models of SARS-CoV-2 infection.

From UC San Diego 2 Sep 2021

Scientists isolate monoclonal antibodies against alphaviruses

A research group has isolated monoclonal antibodies that, in laboratory and animal studies, prohibited infection by alphaviruses.

From Vanderbilt University 24 Aug 2021

Study reveals the biology and treatment behind rare rheumatoid-like autoinflammatory condition

The absence of a protein that activates the body's antiviral defenses can cause a rare rheumatoid-like autoinflammatory condition that is treatable with an FDA-approved class of drugs known as TNF (tumor necrosis factor) inhibitors, a global research team led by Mount Sinai has found.

20 Aug 2021

Study reveals how two separate DNA changes may predict aggressive childhood leukemias

New research published today in JAMA Oncology reports how two separate DNA changes appear to predict aggressive childhood leukemias when they occur in combination.

From The University of Utah 20 Aug 2021

Study describes a new method for identifying sperm mutations that can cause disease in children

Throughout development, life and the processes of aging, all human cells accumulate mutations, resulting in what is called mosaicism, a condition in which different cells in the same person have different DNA sequences or genetic makeup.

16 Aug 2021

New study could help design more effective vaccines against various COVID-19 variants

Scientists have discovered that individuals recovering from COVID-19 produce identical clones, or groups, of antibody-producing white blood cells.

From Vanderbilt University 12 Aug 2021

ACMG and Elsevier announce new partnership to publish 'Genetics in Medicine'

The American College of Medical Genetics and Genomics, the only nationally recognized US medical professional organization solely dedicated to improving health through the practice of medical genetics and genomics, and Elsevier, a global leader in research publishing and information analytics, are delighted to announce a new partnership to publish ACMG's official journal, Genetics in Medicine.

27 Jul 2021

Prevalent protein in the blood plays a vital role in human fertilization, infection resistance

Albumin activates a proton channel which allows sperm to penetrate and fertilize an egg and white blood cells to secrete large amounts of inflammatory mediators.

23 Jun 2021

Roots for obesity start in the first year of life, shows study

Researchers at Columbia University Mailman School of Public Health and Universidade Federal de Ciências da Saúde de Porto Alegre, Brazil found that when health workers were trained to promote infant healthy feeding practices to pregnant women their children consumed less fats and carbohydrates at 3 years of age and had lower measures of body fat at the age of 6.

2 Jun 2021

Study identifies predictive causal role for specific cell types in type 1 diabetes

Researchers revealed a predicted causative role for certain cell types in type 1 diabetes by examining its genetic foundations.

From UC San Diego 20 May 2021

Access to nature increases people's physical activity and their overall health

Your local city park may be improving your health, according to a new paper led by Stanford University researchers. The research, published in Proceedings of the National Academy of Sciences, lays out how access to nature increases people's physical activity - and therefore overall health - in cities.

11 May 2021

Mutations in GEMIN5 protein can cause rare genetic disorders in children

Researchers have discovered a genetic cause of an unusual neurological disorder characterized by developmental delay, known as ataxia.

From University of Pittsburgh 10 May 2021