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GLOBAL GENES – ACE’S ADVENTURE WITH A RARE DELETION ON CHROMOSOME 8

Just by his smile, everybody knows our beautiful two year old son Aaron, or as we call him, our Ace. He’s…

Project 8p Research Newsletter – July 2023

This month’s Research Roundtable featured 8p researcher Dr. Jason Sheltzer from the Yale University School of Medicine. Dr. Sheltzer and his group are working on a project aimed at restoring normal chromosome copy number (disomy) in 8p iPS cells

Project 8p Research Newsletter – June 2023

Large chromosomal copy number variants, such as trisomy 21 and 8p duplication/deletion, affect the expression of a large number of genes. A fundamental question is how do these changes in gene expression give rise to the cellular and developmental phenotypes that are characteristic of these syndromes?

Three moms move mountains to help kids with rare disorders

Their patient-led consortium is creating a free and open database for

Reelin groovy

Chromosome diseases disrupt many genes at once, but some genes matter more than others. 8p iPSC-derived neurons and brain organoids converge on a candidate driver gene located on chromosome 7: Reelin.

Project 8p Research Newsletter – May 2023

This month we tried something different at the Research Roundtable. Instead of having one or two researchers present their work, we posed several research questions to the group and then opened the floor for discussion.

Project 8p Research Newsletter – April 2023

What happens when preliminary data from two independent model systems line up? Is it case closed, or just the beginning of a careful iterative process to determine which results are real and which results are not, i.e, false positives?

Project 8p Research Newsletter – March 2023

The Project 8p Two Year Research Plan, first published last year, will undergo regular reevaluation and revision as our research projects provide new insights into the disease, as technological advances are made, and as the wants and needs of 8p heroes and their caregivers evolve.
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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.