Health

To understand ASO therapy, you first need to grasp how our cells make proteins. It all starts in the nucleus with DNA, our permanent "recipe book." When a cell needs a protein, it doesn't read the DNA directly. It makes a temporary copy called messenger RNA (mRNA), like photocopying a recipe to take to the kitchen.

Mutations in the LMBRD2 gene are rare and can lead to complex developmental disorders in children. These mutations, often referred to as “de novo” (not inherited from the parents), cause a range of symptoms, from motor delays to neurological abnormalities. This article aims to clearly explain the impacts of these mutations and provide informational support to families affected.

What is a gene? A gene is a small segment of our DNA that contains the instructions to make a protein. These proteins play essential roles in the functioning of our body, such as building muscles, transmitting signals, or fighting diseases. Each gene is like a "recipe" in a large cookbook called the genome.