Learn more about this rare disease, how it affects our families, and how we're helping to find treatment.
What is a Phenotyping Study?
When researchers talk about phenotyping for rare disease, they’re describing a process where they carefully observe, measure, and document all the ways a condition affects real people.
It’s essentially building a complete picture of the condition — how it impacts development, behavior, learning, movement, medical systems, and daily life.
For families in the DLG4 SHINE community, this means researchers look closely at the traits and patterns connected to changes in the DLG4 gene and the PSD95 protein, which plays a key role in how brain cells communicate.
It can include things like:
• Developmental milestones
• Movement, speech, or learning differences
• Medical symptoms
• Sleep patterns
• Behavior or sensory traits
• Growth measurements
• Brain imaging or lab results
Researchers gather this information from many individuals with the same rare condition so they can understand what’s typical, what varies, and what truly defines the disorder.
Why Phenotyping Studies Are So Important
1. They help define the condition clearly
For ultra‑rare diseases, doctors often don’t know what to look for. Phenotyping studies create the official description of the condition so families can get faster, more accurate diagnoses.
2. They reveal the full range of symptoms
Every child or adult may look a little different. Phenotyping shows the spectrum — from mild to more complex presentations — helping families feel understood and helping clinicians recognize patterns.
3. They guide researchers toward the biology of the disease
By studying shared traits across individuals, researchers learn more about how changes in the DLG4 gene and the PSD95 protein affect brain function. This helps pinpoint where things go wrong and where treatments might help.
4. They are essential for developing treatments
Before any therapy can be created or tested, researchers must know:
• What symptoms to target
• How to measure improvement
• What “change” would be meaningful for families
Phenotyping provides those answers.
5. They improve care and support for families
The findings help doctors create better care plans, anticipate challenges, and connect families with the right specialists earlier.
6. They strengthen the entire research pipeline
Phenotyping is often the first major step that leads to:
• Biomarker discovery
• Natural history studies
• Clinical trial readiness
• Treatment development
For DLG4 SHINE, it’s one of the most powerful ways to accelerate progress.
In Summary
Phenotyping studies help researchers understand how DLG4‑related Synaptopathy shows up in real life, how changes in the PSD95 protein affect development, and what families need most. They’re the foundation for better care today and future treatments tomorrow.