How parent-specific gene imprinting affects cells and brain development
Investigating molecular mechanisms and cellular functions of genomic imprinting
Researchers are mapping how genes that are active only from Mom or Dad control cell function and brain development to help people with Angelman syndrome and related conditions.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Harvard University NIH-funded |
| Lab location | 1 site (Cambridge, United States) |
| Project ID | NIH-11139487 on NIH RePORTER |
What this research studies
From my perspective, the team will compare the maternal and paternal copies of imprinted genes to see how they are folded and turned on in different cell types, with a focus on neurons. They will use neuron differentiation models and molecular tools to measure 3D DNA structure and the activity of imprinted non-coding RNAs. The researchers aim to link these molecular patterns to cellular and physiological functions that matter for growth and neurodevelopment. Over time these basic discoveries could point to targets for new treatments for Angelman syndrome.
Who could benefit from this research
Good fit: People with Angelman syndrome, their families, or individuals willing to donate biological samples for imprinting research would be most relevant to this work.
Not a fit: Patients without imprinting-related diagnoses or those seeking immediate clinical treatments are unlikely to receive direct benefit from this basic research.
Why it matters
Potential benefit: Could reveal molecular targets and mechanisms that lead to new therapies for Angelman syndrome and other imprinting-related disorders.
How similar studies have performed: Related laboratory and preclinical studies have uncovered key imprinting mechanisms and shown promising approaches (for example, reactivating the silent paternal UBE3A in Angelman), but detailed allele-specific 3D chromatin folding remains a novel area.
Where this research is happening
Cambridge, United States
- Harvard University — Cambridge, United States (Active)
Researchers
- Principal investigator: Whipple, Amanda Joy — Harvard University
- Study coordinator: Whipple, Amanda Joy
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.