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.

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.

The development of new machine learning tools like Alphafold and Rfdiffusion has allowed scientists to predict the structure of proteins and design them for drug discovery purposes, among other uses. Now, scientists at the Arc Institute have created Evo, an AI model that generates DNA sequences and estimates their interaction with other molecules at single-nucleotide resolution, scalable to an entire genome.

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.

The development of new machine learning tools like Alphafold and Rfdiffusion has allowed scientists to predict the structure of proteins and design them for drug discovery purposes, among other uses. Now, scientists at the Arc Institute have created Evo, an AI model that generates DNA sequences and estimates their interaction with other molecules at single-nucleotide resolution, scalable to an entire genome.

Cancer therapies can eliminate specific tumors based on their genetic content. However, some cancer cells survive. How do they do it? Part of the answer lies in extrachromosomal DNA (ecDNA), an ace up the tumors’ sleeve to adapt and evade attack. Three simultaneous studies in the journal Nature lay all the cards on the table, revealing ecDNAs’ content, their origin, their inheritance, their influence in cancer, and a way to combat them.