Understanding Functional Assays
When a genetic mutation is discovered, the crucial question becomes: what does it actually do? This is where functional assays come in.

What is a functional assay?
A functional assay tests how a mutation affects the function of a protein and the cell. It's the difference between knowing there's a problem and understanding what's wrong.

Types of functional assays
🧬 Protein Expression and Localization
These assays evaluate whether the mutated protein is properly produced and positioned within the cell. A mutation could lead to misfolding, reduced stability, or incorrect localization, impairing its function.

🤝 Molecular Interactions
Researchers use these assays to determine whether the mutation disrupts the protein's ability to interact with other critical cellular molecules.

🚛 Intracellular Transport Studies
Since some proteins are involved in transporting or metabolizing specific molecules, functional assays can measure whether these processes are altered by the mutation.

🔬 Cellular and Animal Models
Models with mutations (such as patient-derived cells or genetically modified animals) allow researchers to study the effects of the mutation in a complex biological system and test the efficacy of potential therapies.

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Why this matters
Functional assays are the foundation of breakthrough discoveries. They provide the data needed to:

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• Clarify the connection between genetic mutations and disease symptoms

• Identify potential targets for therapy

• Accelerate the development of life-changing treatments

 

The LMBRD2 gene mutation example
LMBRD2-related conditions are rare and not yet fully understood. For this recently discovered gene, functional assays would help to:

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• Understand the normal role of the LMBRD2 protein

• Determine how mutations disrupt its function

• Identify potential therapeutic approaches

 

The reality of rare disease research
Functional assays require specialized equipment, expert researchers, and years of dedicated work. A comprehensive study can cost hundreds of thousands of dollars and involve multiple laboratories. For ultra-rare conditions affecting only a handful of families worldwide, traditional funding sources are often insufficient.

Unlike common diseases that attract major pharmaceutical investment, rare genetic conditions depend heavily on foundation funding, family support, and dedicated researchers who believe every child deserves answers.

 

How you can help
Your support directly funds the science that could transform these mysteries into medical breakthroughs:

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• Developing advanced functional assays to understand how mutations work

• Funding innovative research at leading institutions

• Supporting families through their journey toward answers

 

Together, we can unlock the mysteries of these rare diseases and pave the way for hope and healing for those living with these conditions.

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Functional assays transform genetic discoveries into medical understanding, and understanding into hope for treatment.

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