Resources
Associated Publications
Here we build off or our previous work in showing that inborn errors of immunity are underdiagnosed among individuals with HS.
We use biomedical informatics tools to mine data and show that inborn errors of immunity are likely underdiagnosed for other common skin diseases like psoriasis, vitiligo, autoimmune hair loss, and scleroderma.
This work suggests that language may be creating barriers between doctors who treat immunological disorders and doctors who treat skin disease.
The work also suggests that there are opportunities for using clinical sequencing in dermatology to improve the health of some patients and their family members
Read here
Human genetic studies generate new knowledge about causes of disease. Unfortunately, Hidradenitis Suppurativa has not been extensively investigated with genetic studies that were large enough to produce strong evidence. Therefore, there is a lot left to learn about it from genetic studies.
In this article, we summarize what we know about the genes related to HS and what we discovered about similarities between HS and a group of immune system diseases known as inborn errors of immunity or IEI. IEI are caused when a single gene carries a disease-causing mutation. Nearly 500 IEI have been discovered and described to date! When we took a deep dive into that research we discovered that some IEI have the same molecular, cellular, and/or clinical symptoms as HS. We believe that these similarities suggest that HS may be an underrecognized part of the larger group of IEI diseases which affect the immune system's ability to keep our skin healthy and that some people with HS might have an undiagnosed IEI. Also, it suggests that studying IEI could help us better understand how the immune system plays a role in HS, find existing drugs that could be used to treat HS, and improve how HS is managed in medical settings. Our group is further developing this discovery into a new research project.
Read here
Conducting genetic studies with rigor and in large cohorts of diverse research participants will create opportunities to improve care for patients with Hidradenitis Suppurativa. Clinical areas that have heavily invested in human genetic studies over the past 30 years are able to use information in a patient’s genome to improve their health and we can learn from their experience. Publishing or releasing only a subset of genetic data limits our ability to discover variants and does disservice to the research participants who have donated their time and resources to a study. Following the guidelines that we outline here will accelerate gene discovery and clinical translation for Hidradenitis Suppurativa and bring us closer to providing an HS diagnosis that is accurate and actionable.
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Associated Presentations
Sister Society Scientific Meeting on HS World Congress of Dermatology, 3-8 July 2023, Suntec City, Singapore
The goal of the Hidradenitis Suppurativa Genetics Consortium is to use human genetic studies as a starting point to discover Hidradenitis Suppurativa (HS) disease mechanisms, to identify and prioritize target for drugs, and to improve the accuracy and utility of an HS diagnosis. This presentation outlines the mission of the Hidradenitis Suppurativa Genetics Consortium, its associated studies, and its analytic strategies.
View the HS World Congress of Dermatology presentation here.
12th Conference of the European Hidradenitis Suppurativa Foundation, 8-10 February 2023, Florence, Italy
The goal of the Hidradenitis Suppurativa Genetics Consortium is to use human genetic studies as a starting point to discover Hidradenitis Suppurativa (HS) disease mechanisms, to identify and prioritize target for drugs, and to improve the accuracy and utility of an HS diagnosis. The poster below outlines the first meta-analysis conducted by the consortium, in which it was determined that further investigation of HS disease mechanisms will required large samples sizes consisting of tens of thousands of participants with diverse genetic backgrounds. The poster outlines HSGC's commitment to widespread collaboration in HS research and respectful engagement of all stakeholders.
9th Conference of the European Hidradenitis Suppurativa Foundation, 5-7 February 2020, Athens, Greece
Limited understanding of how Hidradenitis Suppurativa (HS) develops and the lack of effective treatments contribute to significant unmet needs in managing the condition. Unlike other common inflammatory skin diseases, there has never been a comprehensive study conducted to examine the entire human genome and its association with HS (known as a genome-wide association study or GWAS).
Translational genetic studies can make a direct impact on patient care by providing a scientific basis for repurposing existing drugs, as our group helped to demonstrate with alopecia areata. In our research, we did not find any evidence linking HS to the human leukocyte antigen (HLA) gene. However, we did discover an interesting genetic variant (SNP) at one specific location that influences the expression of a gene called NFATS. NFATS is involved in the NOTCH signaling pathway, which plays a role in HS. In HS lesional skin, the expression of NFATS is lower compared to nonlesional skin from similar patients. This initial finding requires further verification in future studies.
To expand our research and validate our findings, our group is creating replication cohorts that include individuals from different ethnic backgrounds. This diverse group of participants will enable us to conduct a more extensive investigation into HS genetics in the near future.
