Ichthyosis and Genetic Medicine

In July of 2020, a report entitled, “Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis” was published in the The American Journal of Human Genetics by Boyden et al. In this work, the authors described the genetic basis for autosomal dominant lamellar ichthyosis (ADLI). The publishing of this work was especially significant to me as I, along with my affected mother, affected brother, unaffected maternal grandparents, and unaffected uncle were all subjects in the study that submitted biospecimens leading, in part, to the eventual discovery of the gene (ASPRV1) and variant (c.595G>A) that causes our subtype of ichthyosis.

With the knowledge of our genetics, I was inspired to advance the study of our disease and apply genetic medicines for its treatment. One year after The American Journal of Human Genetics report was published, I started my PhD in human medical genetics at the University of Colorado Anschutz Medical Campus and eventually joined the lab of Dr. Ganna Bilousova in the Department of Dermatology. Ganna, previously postdoctoral fellow in the lab of Dr. Dennis Roop, has a long history of translational research in inherited skin conditions which inspired my pursuit of graduate education at the University of Colorado. When I brought up the idea of transferring ADLI fibroblasts and starting a new research program in the lab, Ganna was fully supportive. I transferred ADLI fibroblasts from Rarebase, PBC (a startup in Palo Alto, California creating a portfolio of potential therapeutics for hundreds of rare diseases) to the lab in order to research novel genetic medicines.

One of the most popular applications of genetic medicine used today in research (and now in the clinic) is CRISPR/Cas9 which can make specific DNA edits in the genome. In my case, I wanted to use the approach to change a G (which causes our condition) back to an A (which should ameliorate our condition). After months of designing an editing strategy and executing experiments in the ADLI cells, I was able to successfully correct the pathogenic variant. Gene editing, at least as its applied for the treatment of ichthyosis, is, unfortunately, far from the clinic, but I envision a future in which our community is able to innovate past the standard of care that has not changed in more than 50 years. I hope our efforts in the lab can provide a basis for the research of genetic medicines for all subtypes of ichthyosis in order to eventually provide our community with better treatment options and, ultimately, a better quality of life.

If you are interested in learning more about my work and would like to talk about your vision for ichthyosis treatment in the future, please do not hesitate to reach out!

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Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors, nor Foundation staff and officals endorse any treatments listed here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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