Faculty Profile

Dr. Harry Ostrer, M.D.

Harry Ostrer, M.D.

Professor, Department of Pathology

Professor, Department of Pediatrics

Areas of Research: Human developmental disorders, including disorders of sex development; cancer genomics, including cancer predisposition and metastatic risk; genetic variation in human populations, including Jews and Hispanic-Latinos.

Professional Interests

Genetic differences play an important role in normal human development and disease. These differences can also play a role in the progression of disease and in individual responses to therapy.  The research mission of our laboratory is to use of modern genomics to help understand the roles of human genetic variation in these processes. We have developed functional variant assays to understand the phenotypic effects of genetic variants. 

Genetic variation in human populations. We have characterized genetic variation in a number of human populations (Hispanics and Latinos, Jewish HapMap Project) to understand the origins and migrations of these populations. Currently, we are exploring the role of natural selection in the formation of some of these populations.  We are carrying the work forward to understand disease susceptibilities within these groups.  A key feature of this work is translating new findings into clinical practice to promote personalized medicine

Human developmental disorders. We study the genetic basis of rare genetic disorders, notably disorders found in isolated populations and disorders of sex development, to indentify not only the mutational basis, but also the molecular mechanisms. Recently, we identified mutations in genes in the MAP kinase pathway in abnormal testicular development and now are investigating the roles of members of this pathway in normal testicular development. 

Cancer genetics and genomics.  We have explored the roles of low and high-penetrance variants in risk of human cancers and have developed models for predicting risk.  Through genome wide association studies, we have identified common variants that increase risk of adverse outcomes (erectile dysfunction, urinary dysfunction, proctitis) for men treated with radiation therapy for prostate cancer. We have also developed a molecular signature based on acquired somatic copy number alterations that is highly predictive of risk of metastasis and may account for this increased risk among African-American men. A similar model is being developed for breast cancer.

Selected Publications


CL, Oddoux C, Friedman E, Atzmon G, Halperin E, Ostrer H, Keinan A. The Genetics
of Bene Israel from India Reveals Both Substantial Jewish and Indian Ancestry.
PLoS One. 2016 Mar 24;11(3):e0152056. doi: 10.1371/journal.pone.0152056.
eCollection 2016. PubMed PMID: 27010569; PubMed Central PMCID: PMC4806850.

Kerns SL, Dorling L, Fachal L, Bentzen S, Pharoah PD, Barnes DR,
Gómez-Caamaño A, Carballo AM, Dearnaley DP, Peleteiro P, Gulliford SL, Hall E,
Michailidou K, Carracedo Á, Sia M, Stock R, Stone NN, Sydes MR, Tyrer JP, Ahmed
S, Parliament M, Ostrer H, Rosenstein BS, Vega A, Burnet NG, Dunning AM, Barnett
GC, West CM; Radiogenomics Consortium. Meta-analysis of Genome Wide Association
Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for
Prostate Cancer. EBioMedicine. 2016 Aug;10:150-63. doi:
10.1016/j.ebiom.2016.07.022. Epub 2016 Jul 20. PubMed PMID: 27515689; PubMed
Central PMCID: PMC5036513.

Oh JH, Kerns S, Ostrer H, Powell SN, Rosenstein B, Deasy JO. Computational
methods using genome-wide association studies to predict radiotherapy
complications and to identify correlative molecular processes. Sci Rep. 2017 Feb
24;7:43381. doi: 10.1038/srep43381. PubMed PMID: 28233873; PubMed Central PMCID:

Syeda MM, Upadhyay K, Loke J, Pearlman A, Klugman S, Shao Y, Ostrer H.
Prediction of breast cancer risk based on flow-variant analysis of circulating
peripheral blood B cells. Genet Med. 2017 Sep;19(9):1071-1077. doi:
10.1038/gim.2016.222. Epub 2017 Mar 16. PubMed PMID: 28301456.

diSibio G, Upadhyay K, Meyer P, Oddoux C, Ostrer H. Assessing risk for
Mendelian disorders in a Bronx population. Mol Genet Genomic Med. 2017 Jul
6;5(5):516-523. doi: 10.1002/mgg3.307. eCollection 2017 Sep. PubMed PMID:
28944235; PubMed Central PMCID: PMC5606885.

Upadhyay K, Loke J, O V, Taragin B, Ostrer H. Biallelic mutations in FLNB
cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin.
Clin Genet. 2018 Feb;93(2):412-416. doi: 10.1111/cge.13165. Epub 2017 Dec 26.
PubMed PMID: 29095481.

Lee S, Kerns S, Ostrer H, Rosenstein B, Deasy JO, Oh JH. Machine Learning on a
Genome-wide Association Study to Predict Late Genitourinary Toxicity After
Prostate Radiation Therapy. Int J Radiat Oncol Biol Phys. 2018 May
1;101(1):128-135. doi: 10.1016/j.ijrobp.2018.01.054. Epub 2018 Jan 31. PubMed
PMID: 29502932; PubMed Central PMCID: PMC5886789.

Lencz T, Yu J, Palmer C, Carmi S, Ben-Avraham D, Barzilai N, Bressman S,
Darvasi A, Cho JH, Clark LN, Gümüş ZH, Joseph V, Klein R, Lipkin S, Offit K,
Ostrer H, Ozelius LJ, Peter I, Atzmon G, Pe'er I. High-depth whole genome
sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity,
accuracy, and imputation. Hum Genet. 2018 Apr;137(4):343-355. doi:
10.1007/s00439-018-1886-z. Epub 2018 Apr 28. PubMed PMID: 29705978.

Pearlman A, Upadhyay K, Cole K, Loke J, Sun K, Fineberg S, Freedland SJ, Shao
Y, Ostrer H. Robust genomic copy number predictor of pan cancer metastasis. Genes
Cancer. 2018 Jan;9(1-2):66-77. doi: 10.18632/genesandcancer.165. PubMed PMID:
29725504; PubMed Central PMCID: PMC5931251.

Kerns SL, Chuang KH, Hall W, Werner Z, Chen Y, Ostrer H, West C, Rosenstein B.
Radiation biology and oncology in the genomic era. Br J Radiol. 2018
Nov;91(1091):20170949. doi: 10.1259/bjr.20170949. Epub 2018 Jun 14. Review.
PubMed PMID: 29888979.

Dadaev T, Saunders EJ, Newcombe PJ, Anokian E, Leongamornlert DA, Brook MN,
Cieza-Borrella C, Mijuskovic M, Wakerell S, Olama AAA, Schumacher FR, Berndt SI,
Benlloch S, Ahmed M, Goh C, Sheng X, Zhang Z, Muir K, Govindasami K, Lophatananon
A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman P, Thompson IM Jr, Batra
J, Chambers S, Moya L, Clements J, Horvath L, Tilley W, Risbridger G, Gronberg H,
Aly M, Nordström T, Pharoah P, Pashayan N, Schleutker J, Tammela TLJ, Sipeky C,
Auvinen A, Albanes D, Weinstein S, Wolk A, Hakansson N, West C, Dunning AM,
Burnet N, Mucci L, Giovannucci E, Andriole G, Cussenot O, Cancel-Tassin G,
Koutros S, Freeman LEB, Sorensen KD, Orntoft TF, Borre M, Maehle L, Grindedal EM,
Neal DE, Donovan JL, Hamdy FC, Martin RM, Travis RC, Key TJ, Hamilton RJ,
Fleshner NE, Finelli A, Ingles SA, Stern MC, Rosenstein B, Kerns S, Ostrer H, Lu
YJ, Zhang HW, Feng N, Mao X, Guo X, Wang G, Sun Z, Giles GG, Southey MC, MacInnis
RJ, FitzGerald LM, Kibel AS, Drake BF, Vega A, Gómez-Caamaño A, Fachal L, Szulkin
R, Eklund M, Kogevinas M, Llorca J, Castaño-Vinyals G, Penney KL, Stampfer M,
Park JY, Sellers TA, Lin HY, Stanford JL, Cybulski C, Wokolorczyk D, Lubinski J,
Ostrander EA, Geybels MS, Nordestgaard BG, Nielsen SF, Weisher M, Bisbjerg R,
Røder MA, Iversen P, Brenner H, Cuk K, Holleczek B, Maier C, Luedeke M,
Schnoeller T, Kim J, Logothetis CJ, John EM, Teixeira MR, Paulo P, Cardoso M,
Neuhausen SL, Steele L, Ding YC, De Ruyck K, De Meerleer G, Ost P, Razack A, Lim
J, Teo SH, Lin DW, Newcomb LF, Lessel D, Gamulin M, Kulis T, Kaneva R, Usmani N,
Slavov C, Mitev V, Parliament M, Singhal S, Claessens F, Joniau S, Van den Broeck
T, Larkin S, Townsend PA, Aukim-Hastie C, Gago-Dominguez M, Castelao JE, Martinez
ME, Roobol MJ, Jenster G, van Schaik RHN, Menegaux F, Truong T, Koudou YA, Xu J,
Khaw KT, Cannon-Albright L, Pandha H, Michael A, Kierzek A, Thibodeau SN,
McDonnell SK, Schaid DJ, Lindstrom S, Turman C, Ma J, Hunter DJ, Riboli E, Siddiq
A, Canzian F, Kolonel LN, Le Marchand L, Hoover RN, Machiela MJ, Kraft P;
PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated
Alterations in the Genome) Consortium, Freedman M, Wiklund F, Chanock S,
Henderson BE, Easton DF, Haiman CA, Eeles RA, Conti DV, Kote-Jarai Z.
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis
identifies candidate causal variants. Nat Commun. 2018 Jun 11;9(1):2256. doi:
10.1038/s41467-018-04109-8. PubMed PMID: 29892050; PubMed Central PMCID:

Fofanov VY, Upadhyay K, Pearlman A, Loke J, O V, Shao Y, Freedland S, Ostrer
H. Rapid Next-Generation Sequencing Method for Prediction of Prostate Cancer
Risks. J Mol Diagn. 2019 Jan;21(1):49-57. doi: 10.1016/j.jmoldx.2018.07.007. Epub
2018 Dec 12. PubMed PMID: 30553750; PubMed Central PMCID: PMC6334266.

Rutgers L, Ostrer H, Prowse T, Schroeder H. Diaspora, migration, and the
sciences: a new integrated perspective. Eur J Hum Genet. 2018 Dec 19. doi:
10.1038/s41431-018-0314-0. [Epub ahead of print] Review. PubMed PMID: 30568243.

Chamberlin A, Huether R, Machado AZ, Groden M, Liu HM, Upadhyay K, O V, Gomes
NL, Lerario AM, Nishi MY, Costa EMF, Mendonca B, Domenice S, Velasco J, Loke J,
Ostrer H. Mutations in MAP3K1 that cause 46,XY disorders of sex development
disrupt distinct structural domains in the protein. Hum Mol Genet. 2019 Jan 4.
doi: 10.1093/hmg/ddz002. [Epub ahead of print] PubMed PMID: 30608580.


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Albert Einstein College of Medicine
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Research Information

In the News

The Atlantic interviews Dr. Harry Ostrer on genetic disease studies that suggest Jewish ancestry in some Latin American populations. 

WHYY (NPR) interviews Dr. Harry Ostrer about genetic diseases prevalent in the Jewish community.

More media coverage