Project 8p Foundation hosts monthly Research Roundtables to share the latest advancements in 8p research, foster collaboration among researchers and medical professionals, and provide valuable updates for families in the 8p community.

As an open science organization, we are dedicated to making information accessible to everyone, empowering all to
engage, learn, and contribute to our mission.

Contact kaiti@project8p.org to join.

Project 8p Foundation hosts monthly Research Roundtables to share the latest advancements in 8p research, foster collaboration among researchers and medical professionals, and provide valuable updates for families in the 8p community.

As an open science organization, we are dedicated to making information accessible to everyone, empowering all to engage, learn, and contribute to our mission.

Contact kaiti@project8p.org to join.

Project 8p Foundation hosts monthly Research Roundtables to share the latest advancements in 8p research, foster collaboration among researchers and medical professionals, and provide valuable updates for families in the 8p community.

As an open science organization, we are dedicated to making information accessible to everyone, empowering all to engage, learn, and contribute to our mission.

Contact kaiti@project8p.org to join.

Latest Research Roundtables

Behavior & Development in 8p Heroes

In this month's Project 8p Research Roundtable, Dr. Andrea Miele, pediatric neuropsychologist at Children's Hospital Colorado, shares valuable insights on the behavior and development of 8p heroes seen in the clinic.

Understanding GI Function in 8p Heroes

In the November 2024 Project 8p Research Roundtable, Executive Director Dr. Lauren Chaby provides an update on the Multi-Omics+ Health Canvas-GI Initiative

Navigating Neurological and Clinical Care for 8p Heroes

The Children’s Hospital Colorado team shared clinical insights from their research at the 8p Multidisciplinary Neurogenetic Clinic, helping us better understand the clinical symptoms of our 8p Heroes!

May 2024 Project 8p Research Roundtable

Spring Science provided an overview of Cell Painting and its applications in drug discovery, including how it could be applied to discovering therapeutics for chromosome 8p disorders.

Molecular mechanisms of 8p disorders, based on single nuclei RNA-seq profiling of brain organoids

March 2024 Research Roundtable - Dr. Yanning Zuo and Dr. Francesca Telese from UCSD provide an update on their research into the molecular mechanisms of chromosome 8p disorders

Integrated Stress Response for 8p with Integrated Biosciences

February 2024 Research Roundtable with Families.

Children’s Hospital Colorado Clinical Update – January 2024 Research Roundtable

The Multidisciplinary Neurogenetic Clinic at Children’s Hospital Colorado provides an update on the latest research and observations from meeting with 8p heroes and their families in the clinic

Neuroaugmentative Devices and Project 8p’s 2 Year Research Plan

For our October 2023 Research Roundtable, we discussed neuroaugmentative devices. If you’re the family of an 8p hero, we hope to hear from you about augmentative devices

Chromosome engineering to restore disomy in 8p iPS cells

For our June 2023 Research Roundtable, Dr. Jason Sheltzer, Assistant Professor at Yale University, presented his research project on chromosome engineering.

Creating the first complete sequence assembly of chromosome 8 from an 8p hero

For our July 2023 Research Roundtable, Dr. Glennis Logsdon, a postdoctoral fellow in Dr. Evan Eichler’s lab at the University of Washington,

CRISPRa/i tools to probe gene function in 8p syndrome

Dr. Stefan Pinter from the University of Connecticut shared some of his lab's work on Trisomy 21, as well as introduce his project developing CRISPRa/i tools.

April 2023 Research Roundtable

For our April 2023 Research Roundtable, we had a discussion-based format with the following topics: How should we analyze the 8p fibroblast, iNeuron

Result of transcriptome analysis of 8p neurons

For our March 2023 Research Roundtable, Dr. Joe Bellucci, Director of High-Throughput Biology at Rarebase, shared the results of their transcriptome analysis of 8p neurons.

Research Roadmap updates and the addition of a new research segment on assistive technology

For our February 2023 Research Roundtable, Project 8p’s Research Director, Dr. Ethan Perlstein, provided an update on Project 8p’s Research Roadmap

Clinic Insights from Co-Director Dr. Scott Demarest

For our November Research Roundtable, Dr. Scott Demarest discussed the Project 8p Patient Registry and shared clinic insights

Exploring the Molecular Etiology Underlying Neurodevelopmental & Cognitive Features of 8p Disorders

For our October Research Roundtable, Dr. Hiruy Meharena from UCSD presented his Project 8p-funded research plan, "Exploring the Molecular Etiology Underlying Neurodevelopmental.

Modeling 8p condition with human brain organoids

For our September 2022 Research Roundtable, Dr. Alysson Muotri from UC San Diego presented his work on characterizing 8p brain organoids.

Modeling development and disorders with human embryo

For our August 2022 Research Roundtable, Dr. Aryeh Warmflash from the Department of Biosciences, Rice University discussed modeling development

The NDD-CNV Portal

For our July 2022 Research Roundtable, Dennis Lal, PhD presented the NDD-CNV Portal. If you’re interested in exploring the 8p data portal more, Click Here.

Artificial Intelligence (AI)-driven Drug Repurposing for Rare Disease

For our June 2022 Research Roundtable, Aleksandra Foksinska from Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham presented “Artificial Intelligence (AI)-driven Drug Repurposing for Rare Disease”

Phenotyping of mitochondrial dysfunction and DNA damage/repair in Chromosome 8p disorder

For our May 2022 Research Roundtable, we had Dr. Nicoleta Moisoi from De Montfort University, Leicester, UK discuss "Phenotyping of mitochondrial dysfunction and DNA damage/repair in Chromosome 8p disorder."

Research Roundtable Kick Off – Two-year research roadmap

We are excited to share Project 8p Foundation's first Research Roundtable which happened last April 25, 2022. During the first meeting, Ethan Perlstein introduced our two-year research plan.

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.