Understanding how adults with childhood genetic diseases plan for their futures
Official title: Adults with childhood-onset genetic disease: planning for the future amid therapeutic innovation
Funded at University of Pennsylvania · NIH-11054943 · Data updated 2026-11-12
This study is looking at how adults who were diagnosed with genetic diseases as kids are managing their lives and health now that treatments are improving, and it aims to understand their experiences and needs as they grow older.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | March 7, 2025 |
| Project end | February 28, 2030 |
| Funding year | 2025 |
| Award (this year) | $174,302 |
| NIH project number | 1K01HG013339-01A1 |
| Project ID | NIH-11054943 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adults who were diagnosed with genetic conditions during childhood and are now navigating adulthood.
✕Less likely to help
Patients who do not have a childhood-onset genetic disease may not receive any benefit from this research.
What this research studies
This research investigates the experiences of adults who were diagnosed with genetic diseases in childhood and how they navigate their futures amid advancements in treatment. It focuses on understanding the psychosocial impacts of living longer than previously expected and how these individuals conceptualize their health and life planning. By employing a disability studies framework, the research aims to gather insights into the evolving prognoses of these patients and their needs as they age. The goal is to ensure that the unique challenges faced by this population are recognized and addressed in the context of genomic medicine.
Why it matters
Potential benefit: If successful, this research could lead to improved support and resources for adults with childhood-onset genetic diseases, helping them better plan for their futures.
How similar studies have gone: While there has been some research on childhood genetic conditions, this specific focus on adult experiences and planning is relatively novel and under-explored.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Mueller, Rebecca — University of Pennsylvania
- Study coordinator: Mueller, Rebecca
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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.