Understanding Genetic Changes in Alagille Syndrome
Impact and Utilization of Scalable Functional Assays in Alagille Syndrome
This project aims to better understand the many genetic changes that cause Alagille Syndrome, a condition affecting the liver, heart, and other organs.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11146669 on NIH RePORTER |
What this research studies
We are developing new laboratory tools called Multiplexed Assays of Variant Effects (MAVEs) to study how different genetic variations in the JAG1 and NOTCH2 genes contribute to Alagille Syndrome. These genes are crucial for normal development, and changes in them can lead to the condition. By testing thousands of these genetic variations, we hope to learn which ones are harmful and how they affect the body. This knowledge will help us classify genetic changes more accurately, especially those that are currently difficult to understand.
Who could benefit from this research
Good fit: This research is most relevant to patients with Alagille Syndrome, particularly those who have genetic changes in the JAG1 or NOTCH2 genes that are currently difficult to interpret.
Not a fit: Patients without Alagille Syndrome or those whose genetic variations are already well-understood may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to more accurate diagnoses and a better understanding of Alagille Syndrome, potentially guiding future treatment strategies for patients.
How similar studies have performed: There is a universal need for better tools to understand genetic variations in disease genes, and this project aims to develop novel, high-throughput methods to address this challenge.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Gilbert, Melissa Ann — Children's Hosp of Philadelphia
- Study coordinator: Gilbert, Melissa Ann
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.