8p Health Canvas Explainer

In the Summer Research Newsletter published last week, I previewed the agenda and invited speakers for the 2024 8p Family & Science Conference, which kicks off today in Denver Colorado. The entire Project 8p team has meticulously planned this meeting since the start of the year, assembling a special group of stakeholders in one location. Notably, over 30 8p heroes and their families will be in attendance, the largest 8p community gathering to date.

On behalf of the Project 8p science team, now led by Dr. Barbara Celona, I present the rationale for leveraging the 2024 8p Family & Science Conference as a popup clinical research site for a hypothesis generating, cross-sectional study to assess nutritional status, bioenergetics (mitochondrial) dysfunction, protein markers of inflammation, gene expression patterns, metabolite levels, and gut microbiome composition in 8p heroes. 

Or what we have dubbed the 8p Health Canvas.

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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.