At the National Foundation for Ectodermal Dysplasias (NFED), we understand the pressing need for research into rare disorders like incontinentia pigmenti (IP). This complex form of ectodermal dysplasia has garnered little attention in the research community, and we’re committed to changing that.
To spark innovation and collaboration, the NFED is hosting the Incontinentia Pigmenti Conference: Translating Discovery to Therapy, an international gathering of clinicians, researchers, and young investigators. Scheduled for February 20-22 in Charlotte, North Carolina, our primary goal is to stimulate interest so that we can improve diagnosis and develop new therapies to ultimately improve care for individuals affected by IP.
Understanding Incontinentia Pigmenti
IP affects about .88 out of 100,000 people. The condition is typically only found in females because it’s an x-linked dominant disorder. While exceedingly rare, cases like Jamistyn’s show that males can also be affected in exceptional circumstances.
People affected by IP can have symptoms that vary widely, impacting multiple systems in the body. They can experience abnormalities of the skin, hair, nails, teeth, eyes and central nervous system. Many individuals experience their first symptoms at birth, often presenting as a rash. While these skin rashes may prompt a diagnosis, they don’t always lead to immediate recognition.
This was the case for Eduardo’s family in Guatemala. They had to visit numerous hospitals in their country before someone knew about the condition. Our goal at the conference is to address these challenges and develop screening guidelines and effective diagnostics which will help families receive timely diagnoses and care.
Vision-Focused Goals
One of IP’s most significant impacts is on vision. Affected individuals may experience small or crossed eyes, retinal problems, and other complications that threaten sight. Our conference team will review the existing medical literature and varying treatment protocols for the eyes. We’re assembling a consensus group of experts to develop a unified treatment protocol for vision-related issues. The aim is to standardize and improve outcomes for our families living with IP.
Exploring Genetics and Developing New Therapies
Attendees will also discuss genetic aspects of IP, molecular pathways and set a course for the development of new therapies to help everyone affected by IP.
As a patient advocacy organization, the NFED prioritizes connecting researchers with the people they aim to help. Several families affected by IP will attend the conference to share their stories, giving valuable perspectives on the disorder’s real-life impact.
Partnering for Progress at Incontinentia Pigmenti Resarch Conference
The NFED is working closely with Dr. J. Peter Campbell at Oregon Health Sciences University to host this groundbreaking event. Other esteemed speakers include Connie Chen, M.D., Morton F. Goldberg, M.D., Ian Han, M.D. and J. Timothy Wright, D.D.S., M.S.
We are also delighted to welcome Susanne Emmerich, founder and former director of the Incontinentia Pigmenti International Foundation (IPIF). Following the IPIF’s integration into the NFED in 2020, we’ve proudly carried forward her vision of advancing research and improving treatments for IP.
Driving Research Forward
Through this conference, we hope to ignite a new wave of interest and collaboration in IP research. By building bridges between clinicians, researchers, and families, the NFED strives to bring new insights and therapies to light.
Together, we can create a brighter future for everyone affected by IP!