Education

In recent years, ASO (antisense oligonucleotide) therapies have been transforming the landscape of rare genetic diseases. Several treatments have been approved and dozens more are in development. Although we don't yet know whether thisapproach will be applicable to the LMBRD2 gene, it's important to understand these advances and their implications.

Many children with LMBRD2 gene mutations face significant challenges in acquiring verbal language. This absence of oral communication impacts their ability to express their needs, interact with others, and develop social relationships. For parents, this can be a daily challenge requiring patience, adaptation, and support. Fortunately, several approaches and tools exist to help these children communicate differently. In this article, we present the main solutions used by famil

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.