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Academy HAIR Grants enable new research on hair loss and skin of color.
By Jan Bowers, contributing writer

Identification of biomarkers for central centrifugal cicatricial alopecia
John T. Seykora, MD, FAAD, professor of dermatology, Perelman School of Medicine, University of Pennsylvania

Tell us why you chose to study this topic.
Dr. Seykora: Research into the biological mechanisms of CCCA represents an understudied area on a disease that exerts a strong negative impact primarily on African American women and disadvantaged groups. There is a major unmet medical need to learn more about this disease.

Tell us about your study, research design, and methodology.

Dr. Seykora: Our research study design will be to identify biomarkers of CCCA by performing a subtractive RNA sequencing analysis on CCC- affected vs. CCCA-unaffected vs. control follicles isolated from patient biopsies. In this way, we will be able to identify genes only expressed in CCCA-affected follicles. Our control follicles are terminal anagen follicles obtained from age-matched androgenetic alopecia biopsies. To enhance precision, we will use laser-capture microdissection to isolate CCCA-affected and CCCA-unaffected follicles, and control follicles from tissue sections.

What do you expect to find with your research?

Dr. Seykora: By applying this experimental approach to CCCA and androgenetic alopecia biopsies, we will identify novel biomarkers associated with the disease. These novel biomarkers represent potential therapeutic targets that may be evaluated in clinical trials.

How will your research address gaps in hair disorder research?

Dr. Seykora: There is a major unmet medical need to identify targetable biomarkers of CCCA. Identification of such biomarkers will help dermatologists design novel clinical trials targeting the function of these biomarkers, with the goal of identifying new therapies for CCCA.

The genetic basis of central centrifugal cicatricial alopecia
Susan C. Taylor, MD, FAAD, professor and director of diversity, Department of Dermatology, Perelman School of Medicine, University of Pennsylvania

Tell us why you chose to study this topic.

Dr. Taylor: The genetic basis of CCCA remains understudied and represents an important health disparity. My work has focused on advancing clinical knowledge and addressing gaps in research and education regarding skin of color populations. I strive to invigorate an ongoing national dialogue about skin of color-related issues within the specialty of dermatology.

Tell us about your study, research design, and methodology.

Dr. Taylor: Blood samples for genetic analysis will be obtained from 350 patients from my database, active clinic patients, as well as patients from the Penn Medicine BioBank (PMBB) with a diagnosis of CCCA. In addition, patients with a diagnosis of CCCA who participated in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study — a study investigating the genetic architecture of Primary Open-Angle Glaucoma in the African American Philadelphia population — will be included. Three hundred and fifty unrelated controls will be identified from genotyped PMBB subjects, my non-CCCA patients, and review of the electronic medical record through IRB protocol: 834059.

For aim two of the genetic analysis, we will identify a set of candidate SNPs/genes associated with CCCA by genetic association analysis comparing cases to controls, using linear mixed models for per-SNP association testing (GCTA) and SNP set models for per-gene association (SKAT).

What do you expect to find with your research?

Dr. Taylor: There are candidate genes that have been identified that may influence hair structure in the Khoesan population from Africa who are ancestral to all human populations including African Americans. The Khoesan population has tightly coiled hair that is linked to the predilection for CCCA. Given these associations, we hypothesize that these genes may play a role in the risk for CCCA. We propose genetic studies of African and African American CCCA patients and matched controls to identify new disease loci. Once a complete genetic profile is identified, clinicians will have the ability to predict who will be affected by the disorder, institute preventative strategies, and identify effective therapies.

How will your research address gaps in hair disorder research?

Dr. Taylor: CCCA is a disease that reflects ethnic disparities in dermatologic care and research. A SCOPUS search revealed 157 CCCA citations from 1998 through 2020, as compared to 5,265 alopecia areata citations during the same time period. Furthermore, there are no randomized controlled trials and hence no evidence-based treatments for CCCA. It is known that CCCA is a devastating and non-reversible form of scarring alopecia that negatively impacts quality of life. In a study of 50 South African women with CCCA, the disease impacted self-image (56.3%) as well as relationships and interaction with others (34.8%) (Aguh et al., 2018). Current treatment options for CCCA are anecdotal, are directed at limiting further hair loss by eliminating follicular inflammation, and do not impact existing disease. Anti-inflammatory agents including oral antibiotics, topical and intralesional corticosteroids, and immunosuppressive agents are currently utilized for treatment. Data do not exist to predict who will develop CCCA, and this gap in medical knowledge leaves the population of women of African descent vulnerable to the onset and progression of this devastating form of hair loss.

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