My Hero Initiative

No one understands 8p heroes better than themselves and the ones who love them most. The My Hero Initiative invites families to share their 8p hero’s journey and add their piece to the Chromosome 8p Puzzle.

This puzzle of 8p reflects many questions such as:

  • What does this diagnosis mean?
  • What symptoms do I look out for?
  • What can I do to improve these symptoms?
  • What treatments have worked and what did not work?
  • What should I expect in the next 1 year, 3, years, 10 years, and future?
  • Who is experiencing the same challenges I am?
  • Is there an 8p expert to help me?
  • Is there a path to a cure?

By participating consistently, we can work as a community to answer these questions for you.

Patient-Reported Data

Patient-reported data is critical to understand rare and complex diseases. The My Hero Initiative encompasses all patient-driven elements of Project 8p’s ongoing goals. This includes a Natural History Study, programs, partnerships, and activities that involve data and biospecimen contributions. Your patient perspective is critical in understanding Chromosome 8p disorders.

What is a natural history study?

In rare diseases, there are many unknowns; one way to improve our understanding of these disorders is to conduct a natural history study. This type of research identifies disease trends over time. Methods such as data and biospecimen collection, aggregation, and analysis add pieces to the Chromosome 8p Puzzle and identify potential treatments for our heroes.

How Can I participate?

There are three steps to the My Hero Initiative; that 8p heroes (and immediate family members) can utilize to add their piece to the puzzle. The steps work collaboratively to provide valuable insights; by collecting  patient information and biospecimen samples. Participation in all three is not necessary; however will further contribute to our goal of accelerating treatment for 8p heroes.


Step-1 Chromosome 8p Registry & Biorepository

The Chromosome 8p registry is a secure data collection platform for individuals (and immediate family members) with chromosome 8p rearrangements. Participants are asked to complete a series of 8p specific online surveys that can provide valuable information to guide new research, improve quality of life, better understand the 8p  journey, and discover unmet medical needs.

The Chromosome 8p biorepository stores biospecimens such as tissue and blood samples. The samples may be used to confirm genetic diagnosis and can also be used to conduct whole genome sequencing or RNA sequencing. If any sequencing is done on you or your family member, you may provide consent for a healthcare provider to interpret these results for you. A participant can partake in the Chromosome 8p Registry without providing biological samples

Step-2 Rare-X 8p Data Collection Platform

Rare-X is a platform to collect, connect and share data. Rare-X was created to accelerate rare disease research, treatments, and cures by removing barriers for data collection and sharing.

This component of the My Hero Initiative involves medical surveys that ask questions on all systems of the body. The detailed “Head to Toe” surveys provide valuable information.

Step-3 Multidisciplinary Neurogenetics Clinic

The Neurogenetics Clinic’s goal is to provide world-class expertise and multi-disciplinary care to patients, through personalized care plans and access to cutting edge research to advance the care of these rare conditions.

This component of the My Hero  Initiative is focused on medical care, however, participants can opt to have their clinical data added to the  My Hero Initiative  contributing to our understanding of Chromosome 8p.

Step-4 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. 

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.