Understanding how inherited prion diseases affect the brain

Mechanisms of Neurodegeneration in Hereditary Prion Diseases

NIH-funded research Boston University Medical Campus · NIH-11168162

This study is looking at how certain gene changes related to hereditary prion diseases affect brain cells, using special lab-grown cells to better understand how these changes might lead to problems like Alzheimer's disease.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionBoston University Medical Campus NIH-funded
Lab location1 site (Boston, United States)
Project IDNIH-11168162 on NIH RePORTER

What this research studies

This research investigates the cellular and molecular mechanisms behind hereditary prion diseases, particularly focusing on how mutations in the PRNP gene lead to neurodegeneration. By utilizing innovative induced pluripotent stem cell (iPSC) technology, the study aims to analyze the effects of mutant prion proteins on human neurons and glial cells. The goal is to uncover the toxic properties of these proteins and their interactions within the brain, which could provide insights into the progression of related conditions like Alzheimer's disease.

Who could benefit from this research

Good fit: Ideal candidates for this research include individuals with a family history of hereditary prion diseases or specific mutations in the PRNP gene.

Not a fit: Patients with sporadic forms of prion diseases or those without genetic mutations related to prion disorders may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could lead to new therapeutic strategies for treating neurodegenerative diseases linked to prion mutations.

How similar studies have performed: Previous research has shown promise in understanding prion diseases through animal models, but this approach using human-derived cells is relatively novel.

Where this research is happening

Boston, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions Alzheimer disease dementiaAlzheimer syndromeAlzheimer's Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.