# Identification of biologically relevant subtypes of hidradenitis suppurativa

> **NIH NIH K01** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2022 · $121,288

## Abstract

Project Summary
Hidradenitis suppurativa (HS) is a neglected, prevalent, chronic, stigmatizing, and debilitating disease that has
recently been prioritized for study by NIAMS. Evidence suggests that some HS patients choose to self-manage
symptoms remaining unconnected to healthcare, and some seek medical care for repeated outbreaks of boils
but never receive a diagnosis. Such ‘hidden populations’ create challenges for designing research studies that
are generalizable. Precision medicine initiatives and resources offer opportunities to rapidly increase our
knowledge about biological causes of HS and to improve the care that HS patients receive. For example, the
NIH has made considerable investments in the development of data repositories that link genetic data to EHR
for hundreds of thousands of patients, including the NHGRI-funded eMERGE Network and the NIH-funded All
of Us Research Program. Columbia University investigators are integral members of these nationwide programs,
both as a recruitment site, as well as a data and research center (5U01HG008680, 1OT2OD026556). Engaging
research participants who are willing to contribute longitudinal data is a major obstacle to precision medicine
initiatives. The public’s use of the Internet and social media to obtain and exchange health-related information
has created opportunities to rapidly and efficiently assemble large longitudinal cohorts, yet there are important
differences from traditional research methods and best practice guidelines have yet to be developed. Columbia
University is at the forefront of the development and application of these methods. A major challenge to
implementing precision medicine arises from patients who share a diagnosis but have different biological causes
of disease. HS patients have a high burden of comorbidities and we hypothesize that sets of comorbidities that
tend to present together in individual patients can be used to identify biologically relevant disease subtypes. Here
we will use three approaches to identify patterns of comorbidities within patients, to characterize the
generalizability of the results from studies conducted in EHR, and to use genetic data to biologically validate
comorbidities and resolve causality underlying disease associations. Training in biomedical informatics and
Internet-based survey research will allow the applicant to use EHR data and Internet resources for assembling
cohorts to conduct these studies, and complement her previous training in epidemiology, biostatistics, molecular
biology and human genetics, providing fluency across several domains that are crucial for advancing precision
medicine initiatives. Completion of this proposal will achieve the applicant’s long-term goal of obtaining advanced
training aimed at implementing precision medicine in the treatment of skin disease.

## Key facts

- **NIH application ID:** 10405535
- **Project number:** 5K01AR075111-03
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** Lynn Petukhova
- **Activity code:** K01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $121,288
- **Award type:** 5
- **Project period:** 2020-06-01 → 2025-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10405535

## Citation

> US National Institutes of Health, RePORTER application 10405535, Identification of biologically relevant subtypes of hidradenitis suppurativa (5K01AR075111-03). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10405535. Licensed CC0.

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