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Newly discovered genetic mutation may be a root cause of severe cases of childhood glaucoma

An international team of scientists led by Mass Eye and Ear, a member of Mass General Brigham, and Boston Children's Hospital, has discovered a new genetic mutation that may be a root cause of severe cases of childhood glaucoma, a devastating condition that runs in families and can rob children of their vision by 3 years of age.

30 Jan 2023

A 3D explanation of SPOP’s role in cancer

The protein SPOP, which also plays a role in endometrial, uterine, and other cancers, is the most mutated in prostate cancer. Despite its significance, it is still unclear how SPOP mutations cause cancer.

26 Jan 2023

Researchers use supercomputer to unveil new methods for DNA mosaic recognition

As humans, we each have trillions of cells. And each cell has a nucleus with individual genetic information –DNA – that can mutate to create an abnormality.

25 Jan 2023

Flexible copper sensor detects heavy metals in sweat

Heavy metals such as lead and cadmium are present in batteries, cosmetics, food and other things that are part of everyday life.

24 Jan 2023

New computational tool for long-read RNA sequencing

An evolving RNA molecule can be cut and joined, or spliced, in various ways on the path from gene to protein before being translated into a protein. Using a technique called alternative splicing, multiple proteins can be encoded by a single gene.

24 Jan 2023

Discovery of the gene responsible for rare childhood cancer

The first thorough genetic map of sarcomas, created by research led by Omico, the Garvan Institute of Medical Research, and UNSW Sydney, has revealed several genes that contribute to a rare childhood cancer.

20 Jan 2023

New scalable approach for the diagnosis of multiple respiratory viruses

Cambridge scientists have created a novel test that “fishes” for many respiratory viruses at once using single strands of DNA as “bait” and provides extremely accurate results in under an hour.

18 Jan 2023

Grasping how a biological pathway causes stem cells to regenerate or die

According to a recent study conducted by Cedars-Sinai and the University of California, San Francisco (UCSF), altering a cellular process can cause stem cells, which are the cells that give rise to all other types of body cells, to either die or regenerate.

18 Jan 2023

Ten years and 1,000 studies later, epigeneticists discover problems in their arsenal

Twenty years ago, following the initial sequencing of the human genome, geneticists started carrying out extensive genome-wide association studies to find genomic regions connected to human disease.

16 Jan 2023

Key genes driving cleft lip and palate identified

A research group headed by the University of Iowa recognized three genes that, when deleted, produce cleft lip or palate, a facial abnormality that affects around one in every 1,600 babies in the United States, according to the US Centers for Disease Control and Prevention.

13 Jan 2023

Scandinavian gene pool development via DNA analysis

The complex relationships between geography, ancestry, and gene flow in Scandinavia are resolved in a new study based on 297 ancient Scandinavian genomes that were analyzed along with the genomic data of 16,638 modern Scandinavians.

6 Jan 2023

The detrimental effects of alcohol consumption during pregnancy

For the first time, researchers at the University of Helsinki in Finland examined the effects of prenatal alcohol exposure on the epigenome and gene function of the placenta. The epigenome is a molecular coating on a DNA strand that controls how genes are expressed.

4 Jan 2023