Lynn Petukhova

Overview

The overarching goal of our research is to use translational genetic studies to improve healthcare equity for patients who suffer from diseases without good treatment options and to reduce health disparities for underserved populations. We use information in the human genome to discover biological causes of disease and translate that insight into new clinical approaches to prevent and manage disease. Our research has demonstrated that studies of inherited genetic variants can have a profound impact on patient care in a relatively short amount of time when, for example, the identification of a new disease mechanism provides a rationale for drug repurposing. We have successfully helped to implement translational genetic studies of hair loss and are now focused on inflammatory skin diseases such as hidradenitis suppurativa and acne.

Our research group has discovered genes that influence health through the presence of rare genetic mutations and/or common polygenic variants by studying diseases that are rare in the population as well as common chronic disorders. We use a number of analytic approaches to identify disease mutations, including identity-by-descent mapping, linkage analysis and exome burden testing. We investigate polygenic disorders primarily with genome-wide association studies (GWAS). We work with multidisciplinary teams including bench scientists to develop strategies for the biological interpretation of statistical evidence, and clinicians to help translate our findings into new therapeutic strategies.

We are actively involved in leveraging new resources and methods emerging from precision medicine initiatives to efficiently assemble cohorts that are large enough to power genetic discoveries. This work includes the use of electronic health records and internet survey research to identify and engage research participants. We are also conducting studies to demonstrate that there is a biological basis to hidradenitis suppurativa (HS) including studies of HS comorbidities. Our work continues to impact our understanding of human biology and treatment options available for patients.

Administrative Titles

  • Data Science Institute, Health Analytics Center, Member

Credentials & Experience

Education & Training

  • MS, Molecular Biology, Boston College
  • BA, Biopsychology, Boston College
  • MS, 2007 Biostatistics, Columbia University Mailman School of Public Health
  • PhD, 2013 Epidemiology, Columbia University Mailman School of Public Health

Research

The overall goal of our research program is to use information in the human genome to improve the care of patients who suffer from inflammatory skin diseases, and ultimately to prevent the onset of these disorders in healthy people. Our main focus right now is on initiatiating translational genetic studies of hidradenitis suppurativa.

Grants

ALOPECIA AREATA CENTER FOR RESEARCH TRANSLATION (AACORT) (Federal Gov)

Sep 1 2016 - Jan 31 2022

ALOPECIA AREATA CENTER FOR RESEARCH TRANSLATION (AACORT) (Federal Gov)

Sep 1 2016 - Aug 31 2021

COLUMBIA UNIVERSITY SKIN DISEASE RESOURCE-BASED CENTER (EPICURE) (Federal Gov)

Aug 1 2016 - Jul 31 2021

IDENTIFICATION OF BIOLOGICALLY RELEVANT SUBTYPES OF HIDRADENITIS SUPPURATIVA (Federal Gov)

Jun 1 2020 - May 31 2021

INSTITUTIONAL CAREER DEVELOPMENT CORE (Federal Gov)

Jul 1 2016 - May 31 2021

DEFINING THE GENETIC ARCHITECTURE HIDRADENITIS SUPPURATIVA COHORT (Private)

Jul 1 2019 - Jun 30 2020

FUNCTIONAL GENOMICS OF ALOPECIA AREATA (Federal Gov)

Jul 1 2015 - Jun 30 2020

FUNCTIONAL GENOMICS OF ALOPECIA AREATA (Federal Gov)

Jul 1 2015 - Jun 30 2019

DEVELOPING AN ALOPECIA AREATA DISEASE ACTIVITY INDEX (ALADIN) (Federal Gov)

Sep 1 2014 - Aug 31 2017

DEVELOPING AN ALOPECIA AREATA DISEASE ACTIVITY INDEX (ALADIN) (Federal Gov)

Sep 1 2014 - Aug 31 2017

AUTOIMMUNE COMORBIDITIES AMONG ALOPECIA AREATA PATIENTS AND FAMILY MEMBERS (Private)

Jan 1 2016 - Dec 31 2016

EPIGENETIC EVENTS UNDERLYING TYPE I DIABETES (Federal Gov)

Sep 20 2011 - May 31 2016

GENOME WIDE ASSOCIATION STUDIES IN ALOPECIA AREATA (Federal Gov)

Sep 19 2008 - Aug 31 2014

GENETIC ANALYSIS OF ALOPECIA AREATA (Federal Gov)

May 1 2006 - Apr 30 2011

Selected Publications

Selected Publications

Petukhova, L., E. C. Sousa, Jr., A. Martinez-Mir, A. Vitebsky, L. G. Dos Santos, L. Shapiro, C. Haynes, D. Gordon, Y. Shimomura and A. M. Christiano (2008). "Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation." Genomics 92: 273-278.

Petukhova, L., Y. Shimomura, M. Wajid, P. Gorroochurn, S. E. Hodge and A. M. Christiano (2009). "The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis." Human Heredity 68: 117-130.

Petukhova, L., M. Duvic, M. Hordinsky, D. Norris, V. Price, Y. Shimomura, H. Kim, P. Singh, A. Lee, W. V. Chen, K. C. Meyer, R. Paus, C. A. Jahoda, C. I. Amos, P. K. Gregersen and A. M. Christiano (2010). "Genome-wide association study in alopecia areata implicates both innate and adaptive immunity." Nature 466: 113-117.

Higgins, C. A.,* L. Petukhova,* S. Harel, Y. Y. Ho, E. Drill, L. Shapiro, M. Wajid and A. M. Christiano (2014). "FGF5 is a crucial regulator of hair length in humans." Proc Natl Acad Sci U S A 111(29): 10648-10653.

*shared first autho

Betz, R. C.*, L. Petukhova*, S. Ripke*, H. Huang, A. Menelaou, S. Redler, T. Becker, S. Heilmann, T. Yamany, M. Duvic, M. Hordinsky, D. Norris, V. H. Price, J. Mackay-Wiggan, A. de Jong, G. M. DeStefano, S. Moebus, M. Bohm, U. Blume-Peytavi, H. Wolff, G. Lutz, R. Kruse, L. Bian, C. I. Amos, A. Lee, P. K. Gregersen, B. Blaumeiser, D. Altshuler, R. Clynes, P. I. de Bakker, M. M. Nothen, M. J. Daly and A. M. Christiano (2015). "Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci." Nature Communications 6: 5966.

*shared first author

Severin, R. K., X. Li, K. Qian, A C. Mueller, L. Petukhova (2017). "Computational derivation of a molecular framework for hair follicle biology from disease genes." Scientific Reports 7(1):16303.

Lim, C.P., R. K. Severin, and L. Petukhova (2017). "Big Data Insights into Alopecia Areata Comorbidities." Journal of Investigative Dermatology Symp Proc. 19(1):S57-S61.

Petukhova, L., Patel, A. V., Rigo, R. K., Bian, L., Verbitsky, M., Sanna‐Cherchi, S., S., Erjavec, S.O., Abdelaziz, A.R., Cerise, J.E., Jabbari, A. and Christiano, A. M. (2019). Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an etiological role for autophagy. Experimental dermatology. 00:1-11.

A.S. Byrd, Y. Dina, U.J. Okoh, Q.Q. Quartey, C. Carmona-Rivera, D.W. Williams, M.L. Kerns, R.J. Miller, L. Petukhova, H.B. Naik, L.A. Barnes, J.A. Caffrey, J.A. Sacks, S.M. Milner, O. Aliu, K.P. Broderick, D. Kim, R. Ahn, J.W. Frew, M.J. Kaplan, S. Kang, L.A. Garza, L.S. Miller, A. Alavi, M.A. Lowes, G.A. Okoye (2019). "Specimen Collection for Translational Studies in Hidradenitis Suppurativa." Scientific Reports 0(0):0000.