LMBRD2 Projects Research

We are worldwide non-profit Association.

Our Research Projects

Why Fund LMBRD2 Research?

A Disease Invisible to the Pharmaceutical Industry

​

LMBRD2 is an ultra-rare genetic condition. For major pharmaceutical companies, diseases this rare don't justify any investment. No industry-funded clinical trial. No treatment... unless we create it ourselves.

​

This is the harsh reality of ultra-rare diseases: hope won't come from outside. It will come from us.

​

Without Research, There's No Progress

​

Today, we don't know:

​

• Why some children develop severe spasticity while others don't

• How quickly the disease progresses

• Which cellular functions are disrupted

• Which molecules could improve symptoms

Without this knowledge, no treatment is possible. You can't treat what you don't understand.

Your Donations Fund Three Essential Goals

​

🎯 Understanding Disease Progression
Create a precise map of symptom progression. This data is essential to measure the effectiveness of future treatments. Without knowing the natural evolution, we can't tell if a medication works.

​

🔬 Discovering Cellular Mechanisms
Identify which functions are disrupted in neurons. Understanding LMBRD2 biology is the prerequisite for any therapeutic approach.

​

🚀 Preparing Tomorrow's Treatments
Build the scientific foundation that will enable testing of innovative therapies like antisense oligonucleotides or gene therapy. Major therapeutic breakthroughs are built on years of fundamental research.

​

A Model That Works

Other ultra-rare disease associations have successfully followed this path: family-funded research, academic partnerships, data collection, then therapeutic development.

​

The difference between hope and resignation is research funding.

​

Our Current Projects

Discover below the projects your support makes possible. Each one is an essential piece of the puzzle bringing us closer to concrete answers.