LMBRD2 Blog - All Posts

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.

When one child in the family has LMBRD2, the reality is that family life changes for everyone including brothers and sisters. As parents, we're often stretched thin just managing medical appointments, therapies, and daily care. Meanwhile, siblings are trying to make sense of their own complicated feelings and changed family dynamics. This guide isn't about creating a perfect situation—because let's be honest, that's not realistic. Instead, it offers practical strategies for s

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

Receiving a diagnosis related to the LMBRD2 mutation can be overwhelming, especially given the rarity and limited understanding of the condition. This guide aims to provide clear, practical advice and support for families navigating this journey. While we are not genetic experts, our goal is to offer reliable information that is accessible and reassuring. Our association is currently the only one in the world dedicated to this condition, and scientific research is still limit

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.