What if we could zoom inside our DNA and see how tiny genetic changes shape the way the brain develops and functions? That’s exactly what Dr Jamal Williams and his team at University of Buffalo are aiming to do — and the findings could transform how we understand Prader‑Willi syndrome (PWS).
Why This Matters
PWS happens when certain “instructions” on a part of chromosome 15 (specifically the 15q11‑q13 region) are missing or not working on the side inherited from the father. Scientists know this region is essential for healthy brain development, but they still don’t fully understand how changes within it affect things like thinking, behaviour, appetite, and development.
This project sets out to map this region in incredible detail, helping us uncover what is happening at the genetic level. It’s a bit like switching from an old paper map to high‑resolution satellite navigation. That’s how big of a leap this is for PWS research.
What the Researchers Are Doing
This study has two big goals, both using cutting‑edge scientific tools.
1. Finding Genetic Clues That Affect Brain Development
Researchers will look at thousands of tiny genetic differences (called variants) in the PWS region. They will then compare these with brain imaging data from large studies of typically developing children to understand how genetic differences influence brain development.
Why? Because if certain variants are linked to differences in brain structure, it tells scientists which genes may be especially important. This could reveal:
· Early signs or “markers” of PWS
· Which genes have the biggest impact on brain development
· How subtle genetic changes influence features seen in PWS
2. Exploring the 3D Shape of DNA
DNA doesn’t just carry genetic information — its 3D structure matters too.
By folding and looping inside the nucleus, DNA brings different regions into contact, helping regulate which genes are turned on or off.
The team will examine how DNA in the 15q11‑q13 region folds and what parts touch or influence each other. This is important because:
· DNA folds can act like dimmer switches for genes that adjust how strongly genes are expressed.
· If the 3D structure is disrupted, genes may not work properly
· Understanding this structure may reveal why PWS features occur
Think of it like studying how the shape of a ball of yarn affects which strands touch. Those connections can change the whole pattern.
Why This Project Is Important
This study bridges a major gap between genetic differences and real-life effects on the brain. It could:
· Identify genetic markers linked to differences in brain development and outcomes in PWS.
· Lay the groundwork for targeted therapies
· Potentially lead to treatments that correct disrupted gene activity
This could have a big impact on how we understand PWS, and it’s possible because this project combines genetics, neuroimaging, and advanced DNA-mapping techniques in a uniquely integrated way for PWS research.
What This Means for Families and Researcers
For families affected by PWS, this research offers something powerful: understanding- why certain features occur, how challenges might be recognised earlier, and how future treatments could be tailored to each child’s biology.
Each piece of genetic insight brings us closer to better care, better therapies, and better futures for our loved ones with PWS.
This project, funded by FPWR, is a bold step into the genetic landscape of PWS and a hopeful one. By revealing how DNA in the PWS region works, folds, and influences the brain, researchers are opening the door to breakthroughs that were unimaginable just a few years ago.
To read more please head to Mapping the Genetic and Regulatory Architecture of the 15q11-q13 Region to Identify Neurodevelopmental Mechanisms for Prader-Willi Syndrome