My Hero Initiative Complementary Studies

The My Hero Initiative Complementary Studies advance our understanding of Chromosome 8p Disorders. Working with the first three steps of the My Hero Initiative, this component is designed to enhance our primary studies, providing a comprehensive understanding of each subject matter.

If you’re interested in participating, please email kaiti@project8p.org for more information. Thank you for your consideration.

Skin Biorepository Recruitment

The Chromosome 8p Biorepository is recruiting 8p Hero-derived skin cells (fibroblasts). Fibroblast cells are beneficial for their ability to run screens faster than other disease models, including drug repurposing screens, and their ability to examine the aging process. 

Learn more about fibroblast studies here

 

This study requires a 2mm skin punch. Project 8p is currently collecting 8p Heroes and their same-sex biological parents.

For questions or to participate, please email kaiti@project8p.org

Inversion/Duplication/Deletion 8p Disease Concept Study

Inversion/Duplication/
Deletion 8p Disease Concept Study

We’re conducting a study in partnership with COMBINEDBrain to better understand the needs of chromosome 8p families. We’re trying to determine the most impactful symptoms of Chromosome 8p disorders to inform meaningful outcome measurements in future clinical trials.

The study will involve a 60–90-minute audio-recorded interview consisting of a conversational questionnaire about your child’s symptoms and treatments to learn how these impact you, your child, and your family. By sharing your story, you’ll help researchers determine what matters most to the chromosome 8p community. Together, with input from caregivers and healthcare providers, we hope to inform future clinical trial outcome measurement and improve healthcare for children and adults with chromosome 8p disorders.

If you’re interested in participating, please email bina@project8p.org for more information. Thank you so much for your consideration.

This study is with Illumina and involves a blood collection for the 8p Hero and direct biological relatives (Parents or Siblings who are interested in participation). We utilize mobile phlebotomy to collect the sample, the sample is then sent to Illumia where they perform whole-genome and whole-transcriptome sequencing and analysis of the variant impact.

If you’re interested in participating, please email bina@project8p.org for more information. Thank you so much for your consideration.

8p Proximal Deletion Study

Dr. Evan Eichler at the Univ. of Washington will be leading this effort. He is a Howard Hughes Medical Institution scientist, one of the world’s leading geneticists. He is interested in looking at the details of the genes involved in the 8p Hero, which are significant ones, and the cause of this change to help contribute towards.

His study is requesting blood samples from the patient and parents and information about the patient’s symptoms. The goal of this study is to help us understand the underlying mechanism that led to this 8p diagnosis for your family and if precise differences from each patient’s genetic breakpoints contribute to the variability in the symptoms.

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.