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Multidisciplinary analysis of WGS improves diagnostic rates

The NHS Genomic Medicine Service, launched by the Department of Health in the United Kingdom in 2018, enables patients with unusual conditions to have their complete genetic code evaluated in the hopes of gaining a critical diagnosis.

From University College London 8 Nov 2022

Pioneering gene editing approach could lead to new treatments for CTLA-4 insufficiency

A fault in cells that form a key part of the immune system can be repaired with a pioneering gene editing technique, finds new research demonstrated in human cells and mice, led by UCL scientists.

From University College London 27 Oct 2022

An inventory of human genetic variation through upgrading the 1000 genomes project resource

The first large-scale WGS project to produce a catalog of human genetic variation was the 1000 Genomes Project (1kGP), which was released as an open-access resource seven years ago.

8 Sep 2022

Safety, feasibility of intranasal human milk as stem cell therapy for preterm infants with intraventricular hemorrhage

A new study demonstrates that intranasal human milk is a safe and feasible intervention for intraventricular hemorrhage, a serious cause of morbidity in preterm infants.

25 Apr 2022

New scalable method to advance maturation of human pluripotent stem cell-derived cardiomyocytes

A Mount Sinai-led team has developed a reproducible and scalable method to advance maturation of human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs)-;cells that support heart muscle contraction, generated in the lab from human stem cell lines-;which researchers say will improve approaches for disease modeling, regenerative therapies, and drug testing.

8 Apr 2022

Genetic rat model shows robust Down syndrome features

In pursuit of better ways to test new therapies and further explore the impacts of the unique genetics associated with Down syndrome, researchers at Johns Hopkins Medicine and Tottori University in Japan have genetically engineered and characterized what is believed to be the first rat model of Down syndrome.

15 Mar 2022

Mother's unhealthy vaginal microbiome may contribute to mortality and altered development in babies

A new study in mice from University of Maryland School of Medicine researchers showed that an unhealthy vaginal microbiome in pregnant mothers in combination with an unhealthy diet contributed to increased pup deaths and altered development in the surviving babies.

28 Jan 2022

Columbia researchers develop new blood test to measure the pace of biological aging

Researchers at Columbia University Mailman School of Public Health have developed a new blood test to measure the pace of biological aging. Based on an analysis of chemical tags on the DNA contained in white blood cells, called DNA methylation marks, the new test is named DunedinPACE, after the Dunedin Birth Cohort used to develop it.

19 Jan 2022

Exposure to phthalates may alter a hormone needed to sustain a healthy pregnancy

Exposure to phthalates-; a group of chemicals found in everything from plastics to personal care products to electronics-; may disrupt an important hormone needed to sustain a healthy pregnancy, according to a Rutgers study.

13 Jan 2022

Research team grows mini-stomach across varying stages of development

A group of researchers led from Great Ormond Street Hospital (GOSH) hinged on recent progress to culture “mini-organs” in a lab, called organoids.

From University College London 7 Dec 2021

Cellular enlargement drives a decline in function of stem cells, study suggests

MIT biologists have answered an important biological question: Why do cells control their size? Cells of the same type are strikingly uniform in size, while cell size differs between different cell types. This raises the question of whether cell size is important for cellular physiology.

15 Nov 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

Gene expression changes help understand the mechanism behind noise-induced hearing loss

A growing number of people are suffering from hearing loss due to exposure to loud noises from heavy machinery, concerts, or explosions. As a result, scientists have been working to understand the mechanism behind how the damage to hearing actually occurs.

30 Sep 2021

NIH to renew grants to continue building the ClinGen resource

In an effort to continue building the Clinical Genome Resource, the National Institutes of Health will be renewing three awards amounting to $73.2 million over five years.

From National Human Genome Research Institute (NHGRI) 24 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

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

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

New kind of biomolecule could play a vital role in the biology of all living things

Stanford researchers have discovered a new kind of biomolecule that could play a significant role in the biology of all living things.

18 May 2021

Tanzanian farmers improve children's diet by sustainable crop-growing methods

A project based in Tanzania found significant improvements in the diversity of children's diets and food security for households after farmers learned about sustainable crop-growing methods, gender equity, nutrition and climate change from peer mentors.

12 May 2021

Study shows beneficial effects of gene therapy can be observed even after several decades

A new study shows that the advantageous effects of gene therapy can be observed several decades after the body clears the transplanted blood stem cells.

From University College London 18 Mar 2021