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 about all systems of the body. The detailed “Head to Toe” surveys provide valuable information.

New User

Returning User


Caregivers, if you wish to participate in biospecimen collection through Rare-X, you must sign up as a Caregiver & Patient. We ask that you enroll and complete the consent form on your behalf first. Once in the registry, you will add your hero.

Additionally, for Project 8p Foundation to receive your data, you must answer “Yes” to the following consent question:
“Do you want to share your contact information with patient advocacy groups that support your diagnosis?”

Rare-X 8p Data Collection Platform FAQ’S

Rare-X is a valuable partner to Project 8p. Their platform works collaboratively, with the Chromosome 8p Registry to ensure we are capturing Chromosome  8p symptomatology. Additionally, their collaborative network expands  our reach to other researchers studying common 8p features.

Rare-X offers many standardized surveys that increase our understanding of Chromosome 8p Rearrangements. Data collected from Rare-X will be aggregated and analyzed in our ongoing natural history study. Additionally, Rare-X is helping facilitate mobile phlebotomists to ease the burden of blood collections for the 8p Biorepository.

  1. FAQ Rare X – RARE-X is a member of C-DISC and utilizes those tools to standardize  data collection, where available. 
  2. In terms of data sharing, RARE-X aligns with the GA4GH data sharing ontologies to ensure future state includes interoperability and sharing.
  3. RARE-X’s data model plan includes mapping to: HPO, HL7, OMIM, Orphanet, CDC as well as other applicable standards models
    1. It is important to note that in the rare space there is often a lack of standardized coding/languages.  RARE-X is dedicated to working towards the creation of standards in those areas via collaboration

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.

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.