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Genetics news

Genetics

A rare respiratory disease may be more prevalent in Quebec

A study led by the Research Institute of the McGill University Health Center (The Institute) has identified a rare genetic variant in the ODAD4 gene that causes primary ciliary dyskinesia (PCD), a chronic hereditary disorder ...

Genetics

New insight into how protein TDP-43 affects gene expression in ALS and FTD

Neurodegenerative diseases, such as Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are medical conditions characterized by the progressive degradation of cells in the brain, ...

Genetics

Why important genes 'go quiet' as we get older

The human gut renews itself faster than any other tissue: every few days, new cells are created from specialized stem cells. However, as we get older, epigenetic changes build up in these stem cells. These are chemical markers ...

Genetics

How a gene shapes the architecture of the human brain

Researchers around the world are studying how the human brain achieves its extraordinary complexity. A team at the Central Institute of Mental Health in Mannheim and the German Primate Center—Leibniz Institute for Primate ...

Medical research

When ribosomes collide, cells launch emergency stress defenses

Ribosomes, the protein factories of the cell, are essential for all living organisms. They bind to mRNA and move along the messenger molecule, reading the genetic code as they go. Using this information, they link amino acids ...

Genetics

New mutation hotspot discovered in human genome

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we study genetics and disease.

Genetics

MRIs reveal genetic clues in cerebral palsy

A national study by University of Adelaide researchers is paving the way for more precise diagnosis and treatment for children with cerebral palsy.

Genetics

Genetic mechanisms promote antimicrobial resistance in gonorrhea

Northwestern Medicine scientists have identified previously unknown genetic mechanisms that promote antimicrobial resistance in gonorrhea, findings that may inform the development of more effective treatment strategies, according ...

Genetics

How a consortium is advancing the diagnostics of rare diseases

The National Institutes of Health established the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium in 2021 with the goal of finding molecular diagnoses for individuals with rare diseases who ...