Researchers roadmap

Segment 1

Parallelized, AI-informed Drug Repurposing

Segment 2

Disease in a Dish & Therapeutic Target Assessment

Segment 3

Building the Foundational Toolkit

Segment 4

In Hero Studies To Elucidate Disease Drivers

Segment 5

Prototype Augmentative Therapies

Team Scientists

Dr. Alysson Muotri

A Brain Organoid model of 8p neurodevelopment

  • A Brain Organoid model of 8p neurodevelopment
  • A model for probing genes, pathways, networks and screening therapeutics.
  • Differentiation of 8p family trio iPSCs into cortical brain organoids.

Dr. Aryeh Warmflash

Germ layer patterning defects in 8p.

  • Understand the impact of 8p genes and regions on changes in early embyo developmetal.
  • Identify potential points of early therapeutic intervention
  • Assess germ layer patterning and changes in gene expression during early development in 8p lines

Dr. Hiruy Meharena

Omics characterization of neurodevelopmental defects in 8p

  • Understand how 8p CNVs affect different brain cell types.
  • Identify phenotypes for high throughput screening.
  • Identify therapeutic intervention points.

Dr. Stefan Pinter

CRISPR activation and inhibition lines for investigation of 8p candidate genes.

  • Tools for probing candidate gene function in a dose- controlled manner.
  • Tools for top-down and bottom-up screening of 8p modifiers
  • Create euploid line with inducible CRISPRa/ and NGN2

Dr. Jason Sheltzer

Chromosome engineering for restoring disomy in 8p

  • Understand the viability of chromosome engineering as a therapeutic strategy for 8p.
  • Create genetically matched 8p and control lines.
  • Test five unique strategies for restoring chromosome 8 disomy in 8p iPSCs.

Dr. Nicoleta Moisoi

Mitochaondrial dysfunction in

  • Understand the role of mitochondria in 8p pathobiology.
  • Identify pathways for intervention.
  • Validate assays for high throughput drug screening.

Dr. Wendy Chung

Clinical and genomic characterization of 8p cytogenomic disorders

  • Identify clinical phenotypes and genotypes common among 8p patients

Dr. Gene Yao

Genome engineering of 8p deletion and duplication control lines

  • Cell lines for understanding the contribution of individual 8p rearrangements in isolation

Dr. Matt Might

mediKanren: a system for biomedical reasoning

  • Identigy repurposed drugs with the potential to modulate 8p candidate gene functiuon

Dr. Glennis Logsdon

High resolution sequencing and assembly of chromosome 8p fro a hero with invdupdel 8p

  • Identify exact breakpoints that define the disorder.
  • Determine potential mechanisms of rearrangement.
  • Better understand phenotypic variation and causal genes.

Dr. Scott Demarest

8p clinical Center of excellence- towards defining a clinical standard of care.

  • Care for all aspects of the disorder
  • Facilitate biospecimen and data collection
  • Standardized natutal history studies
  • Genotype-phenotype correlations

Dr. Dennis lal

Neurodevelopmental Disorder CNV Portal

  • Educational resource for patients, families, clinicians
  • Tool for variant interpretation and pathogenicity classification
  • A central hub for researchers to explore interconnected data

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.