We are pleased to announce that the Genetic Support Foundation (GSF) has been approved for a funding award through the Eugene Washington PCORI Engagement Award Program, an initiative of the Patient-Centered Outcomes Research Institute (PCORI). The funds will support a new project titled “Convening to Identify Patient-Centered CER Priorities of Individuals with Achondroplasia and Families.”
The engagement project will be led by GSF disability health expert Stephanie Meredith, DrPH and Andrea Schelhaas, MS, CGC, an individual with achondroplasia and parent of children with achondroplasia. The project will center the voices of people with achondroplasia and their families in shaping future comparative clinical effectiveness (CER) research priorities and decision-making.
Individuals with achondroplasia, the most common skeletal dysplasia causing short stature, are actively involved in their communities and live rich and meaningful lives. Achondroplasia can impact other systems leading to medical concerns such as spinal stenosis and sleep apnea. While new treatments aimed at increasing height in people with achondroplasia are entering the market, many in the achondroplasia community emphasize that height is not a medical concern and short stature itself does not need to be “fixed.” Advocacy groups such as Little People of America (LPA) have instead highlighted the importance of focusing research on management of medical issues outside of short stature.
This project aims to identify community-defined research priorities and engagement strategies to guide future patient-centered comparative effectiveness research. Individuals with achondroplasia, family members, advocates, clinicians, and researchers will collaborate through a series of online and in-person conversations, including a convening at the 2026 LPA National Conference. This project will culminate in a Research Priority Report and Research Brief and online conversation designed to inform researchers, industry representatives, funders, and clinicians.
“As someone who has been part of LPA since childhood and now serves on the LPA Medical Advisory Board, this project is deeply meaningful to me. I am thrilled for the opportunity to support and advance research priorities identified by the achondroplasia community.”
-Andrea Schelhaas, Project Lead
“When looking at engaging in research to improve the lives of people with genetic conditions, it is essential to directly consult with those communities to make sure we are addressing the concerns most vital to them. We need to make sure they are involved in the process from conception to implementation and dissemination. That means we need to genuinely seek patient input and guidance and to become colleagues, coworkers, and friends who genuinely care and listen with humility.”
-Dr. Stephanie Meredith, Project Lead
The project is led by GSF with support from LPA, reflecting a shared commitment to advancing inclusive, patient-centered research that supports informed decision-making and community values.
Convening to Identify Patient-Centered CER Priorities of Individuals with Achondroplasia and Families is part of a broader portfolio of PCORI-funded projects to help develop a community of patients, caregivers, clinicians and other stakeholders who are better equipped to engage as partners in all phases of patient-centered comparative clinical effectiveness research (CER) and to disseminate results of PCORI-funded studies. Through its Engagement Award Program, PCORI is creating an expansive network of individuals, communities and organizations who can leverage their lived experience and expertise to influence research to be more patient-centered, relevant and useful.
PCORI is a nonprofit organization with a mission to fund research that will provide patients, their caregivers, and clinicians with the evidence-based information that is needed to make better-informed health care decisions.
GSF is a nonprofit organization committed to elevating the voices of people with genetic conditions and advancing ethical, patient-centered practices in the field of genetics.