Latest Publications

Chromosome engineering to restore euploidy in cells harboring a complex rearrangement of chromosome 8

Sophia N. Lee, Let al.

bioRxiv

Chromosomal rearrangements on the short arm of chromosome 8 cause 8p syndrome, a rare developmental disorder characterized by neurodevelopmental delays....

Chromosome 8p Syndromes Clinical Presentation and Management Guidelines

Kourtney Santucci, et al.

Clinical Genetics

Rearrangements of the p-arm of Chromosome 8 can result in a spectrum of neurodevelopmental challenges, along with increased risk of epilepsy, structural brain .…

Clinical and Genomic Characterization of 8p Cytogenomic Disorders

Clinical and Genomic Characterization of 8p Cytogenomic Disorders a Project 8p Funded Study Link to Downloadable PDF

Children's Hospital Colorado

Multidisciplinary Neurogenetics Clinic Abstracts

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.
  • Lead with knowledge from patients. Currently, there is no cure for 8p disorders, nor is there a standard course of treatment.

The Project 8p Foundation (Project 8p) was created in 2018 to:

  • Raise transformative funding for pioneering scientific research into treatments for a complex, rare disease involving 250+ affected genes on the short arm of the 8 th chromosome (8p). Rearrangements of these genes causes significant abnormalities to the entire neurological system, thus all organs and functions of the body– with variance in cognitive functions, gross motor skills, social development and other challenges during infancy, and throughout life;
  • Empower a unified community of 8p patients and their families so they can have meaningful lives today; and
  • Accelerate future treatments, not only for 8p, but potentially for other chromosome-wide diseases as well.