FIRST-Funded Research Projects
FIRST has awarded $1.8 million in ichthyosis research funding since 2006
Inhibition of mutant connexin channels in KID Syndrome - Thomas W. White - 2022
Mutations in connexin26 (Cx26) that cause keratitis-ichthyosis-deafness (KID) syndrome have increased hemichannel activity. We will test inhibition of mutant hemichannels as a strategy to alleviate the skin pathology of KID syndrome in a mouse model.
To test inhibition of mutant connexin hemichannels as a new therapeutic approach in a mouse model that expresses the human Cx26-G45E KID syndrome mutation. These mice have increased hemichannel activity in keratinocytes. We hypothesize that inhibiting the acquired hemichannel activity will improve skin disease.
Darier disease drug screen - Jakob Wikström, MD, PhD - 2021
In this bench-to-bedside translational study for Darier Disease, we will establish a series of patient derived keratinocyte cell lines from DD patients, which will be used to screen pharmacological compounds likely to improve ER calcium homeostasis and ER stress. This study will select candidate compounds that will be tested in a future clinical trial. To enable this study, we have a unique clinical cohort of DD patients, and published experience in ER biology.
Interplay between the microbiota and skin homeostasis in Darier disease - Nan Ring, MD - 2021
Congrats to Nan Ring. Her project is a multidisciplinary project to investigate the role of the microbiota in Darier disease, with the ultimate goal of uncovering disease pathways that can be targeted for therapeutic purposes. Preliminary data suggest that overgrowth of S. aureus is associated with flares, while the skin microbiota of patients with well-controlled disease more closely resembles that of normal controls. As we continue the study, we look forward to learning more about the role of the microbiota in Darier disease, as well as the specific protein-protein interactions between implicated microbes and the human host. We ultimately hope to uncover druggable targets and create treatments that decrease morbidity and improve the quality of life of patients living with this inherited lifelong disease.
X-ray crystallographic analysis of keratins 1 and 10 - Chris Bunick, MD - October 2016
Structural mechanisms of ichthyosis-causing mutations by x-ray crystallographic analysis of keratins 1 and 10
Please join us in congratulating FIRST's 2017 Research Grant recipient
Dr. Christopher Bunick of Yale University, for his work in determining the structural mechanisms of ichthyosis-causing mutations by x-ray crystallographic analysis of keratins 1 and 10. The FIRST research grant will provide funding in the amount of $50,000 for a period of one year, beginning October 1, 2016.
Newborn implications in the ichthyoses. - Brittany Craiglow, MD - April 2015
Please join us in congratulating FIRST's 2015 Research Grant recipient, Dr. Brittany Craiglow of Yale University. Dr. Craiglow, a tenacious supporter of the FIRST community, was awarded a $50,000 research grant for her collaborative study of newborn and early childhood complications and comorbidities that accompany the ichthyoses. Dr. Craiglow notes, "At present, there is no standard of care for the management of babies and children with these disorders and therapeutic options are limited."
ARCI - Ryan O'Shaughnessy, PhD - March 2014
Dr. Ryan O'Shaughnessy received $50,000 from the FIRST Research Grant Program to continue his work in targeting the scaling pathways in ichthyosis. The research specifically focuses on understanding the mechanisms that cause scaling, and subsequently increasing the options for treatment.
Hyperkeratosis, or scaling, is a very common symptom in skin disease, with around 150 genetic ichthyosis and ichthyosis-related skin diseases leading to this thickening of the outermost layer of the skin.