P228: MyAchonJourney: An online educational resource for individuals with achondroplasia and their families, developed by advocacy leaders and healthcare providers

Genetics in Medicine Open 2026 Open access

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Authors: Colleen Gioffreda, Chandler Crews, Kristen DeAndrade, Kim Mary Fine, Anne Grumet, Kirsten Kiefer, Deborah Krakow, William Mackenzie, Alisa Santiesteban, Munira Shamim, Mari L. Groves
DOI: 10.1016/j.gimo.2026.103722
Cited by: 0

Abstract

Achondroplasia is a skeletal dysplasia arising from a gain-of-function pathogenic variant in FGFR3 that suppresses bone growth and leads to disproportionate short stature. Individuals with achondroplasia and their families often navigate potential medical complications and psychosocial challenges that can accompany the condition. However, a centralized and accessible location for educational resources to support them has remained a significant unmet need, especially for newly diagnosed families.

Fields of Study & Subjects

Connective tissue disorders research Health Literacy and Information Accessibility Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103722–103722
Publication date
1 January 2026
Language
EN