Researchers from Tel Aviv Sourasky Medical Center presented data from a study that aimed to investigate the genetic mechanisms underlying yellow nail syndrome (YNS), a rare disorder characterized by three features, namely yellow dystrophic nails, lymphedema and chronic lung disease.

Having 35 copies of the CAG triplet in the gene that causes Huntington’s disease is not a problem. Inheriting 40 could be a sign that goes unnoticed for decades, until reaching 80. From there, the process accelerates and neural death occurs when reaching 150 repeats. Huntington’s disease neurodegeneration is not determined by what, but by how much, according to a study conducted at the Broad Institute.

Around the end of every year, the media reports on pregnancy and women who give birth on the last and first days of the new year. They tell their stories, the names of their babies and the cities where they were born. While 2024 was coming to an end, gynecologists and other researchers finalized their publications to improve the health of women and their babies. The formation of the placenta or the study of preeclampsia are some of the first and last stories that greet and say goodbye to 2024. Those of 2025 will be born soon.

WD repeat domain 83 opposite strand (WDR83OS) encodes the 106-aa (amino acid) protein Asterix, which is a binding partner for CCDC47. More specifically, Asterix heterodimerizes with CCDC47 to form the protein associated with ER translocon (PAT) complex that specifically chaperones large proteins containing transmembrane domains.

At the Breakthroughs in Muscular Dystrophy special meeting held in Chicago Nov. 19-20, 2024, and organized by the American Society of Gene & Cell Therapy (ASGCT), multiple interventions at the RNA level were among the approaches that were presented to fight muscular dystrophies.

Since the isolation of the gene that causes Duchenne muscular dystrophy (DMD), scientists have progressed in understanding the mechanisms that lead to muscular diseases that can be evident from the early stages of childhood. This has led to the development of diagnostics and therapeutics, some approved by the FDA.

An international consortium of thousands of scientists is creating the Human Cell Atlas, a three-dimensional map of all the cells in the body. The goal is to understand all the cells that make up human tissues, organs and systems, which will enable multiple medical applications. This collection of cell maps is openly available for navigation at single-cell resolution, identified through omics analyses that reveal the tridimensional distribution of each cell.

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disorder with around 85% of people with HCM remaining undiagnosed. There are no treatments approved for nonobstructive HCM (nHCM) to date.