<p>Xiao P. Peng, MD, PhD, is Director of the Genetics of Blood and Immunity Clinic and Co-Director of the New York Center for Rare Diseases at the Children&rsquo;s Hospital at Montefiore Einstein and Assistant Professor of Pediatrics and Genetics at our Albert Einstein College of Medicine. Dr. Peng cares for patients with complex, undiagnosed disorders, with unique and specific expertise in the diagnosis and care of genetically-driven disorders of blood and immunity (GBIs). She integrates the tools of molecular medicine and the conceptual understanding of human genetics and pathobiological mechanisms to identify novel disease-causing mechanisms and strategies for helping patients.</p><p>After receiving her Bachelor of Science in chemistry from the California Institute of Technology in 2005, Dr. Peng earned her Doctor of Philosophy in biochemistry and cellular and molecular biology at Sloan Kettering Institute in 2015 and her Doctor of Medicine at Weill Cornell Medical College in 2017. She then completed a pediatrics-medical genetics combined residency at Johns Hopkins University in 2021 and served an additional year as both Chief Resident and a Research Fellow. During her residency and fellowship, she also worked as a geneticist for the Genetics and Genomics Unit at the Center for Chronic Immunodeficiency, University of Freiburg, Germany.</p><p>Dr. Peng&rsquo;s research focuses on the nexus of genome maintenance, transcriptional gene regulation and post-translational modifications. She is greatly interested in host-pathogen co-evolution, or how interactions with our fellow species, particularly microbes, have shaped human genomes and human history. She has been principal investigator and co-investigator on a number of funded research projects and contributed her time to many initiatives that advance the goals of the GBI community at large. Her work has been published in numerous peer-reviewed journals, case reports, book chapters, monographs, reviews and abstracts, and she has given many invited presentations. She serves in several groups within the ClinGen Immunology CDWG and as a reviewer for <em>Genetics in Medicine, Clinical Immunology, Frontiers in Immunology</em> and the <em>Journal of Clinical Immunology</em>.</p><p>Dr. Peng is board certified by the American Board of Medical Genetics and Genomics in Clinical Genetics and Genomics and the American Board of Pediatrics in General Pediatrics. She holds multiple leadership roles in the North American Immuno-Hematology Clinical Education & Research (NICER) Consortium. She serves as Geneticist for the Johns Hopkins Ataxia Telangiectasia Clinic and the Genetic Disorders of Mucociliary Clearance Consortium and Related Research Network. She is also an active member of the Clinical Immunological Society (CIS) and the European Society of Human Genetics.</p>

<p>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.&nbsp; The research mission of our laboratory is to use of modern genomics to help understand the roles of human genetic variation in these processes.&nbsp;We have developed functional variant assays to understand the phenotypic effects of genetic variants.&nbsp;</p>
<p><span style="text-decoration: underline;">Genetic variation in human populations</span>. We have characterized genetic variation in a number of human populations (Hispanics and Latinos, Jewish HapMap Project, The Ashkenazi Genome Consortium) 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.&nbsp; We are carrying the work forward to understand disease susceptibilities within these groups.&nbsp; A key feature of this work is translating new findings into clinical practice to promote personalized medicine</p>
<p><span style="text-decoration: underline;">Human developmental disorders</span>. 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. We identified mutations in genes in the MAP kinase pathway in abnormal testicular development and have investigated the roles of members of this pathway in normal testicular development.&nbsp;</p>
<p><span style="text-decoration: underline;">Cancer genetics and genomics</span>.&nbsp; We have explored the roles of low and high-penetrance variants in risk of human cancers and have developed models for predicting risk.&nbsp; 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 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. We have also developed flow variant assays as a novel method for identifying germline risks of cancer</p>

Molecular Pathology, Molecular Genetics, Cytogenetics, Medical Genetics

Our laboratory uses modern genomics to better understand the role of human genetic variations in regards to disease progression and potential treatments. Our mission is to lay the groundwork for future development of therapies based on our research.

<p>Syeda MM, Upadhyay K, Loke J, Pearlman A, Klugman S, Shao Y, Ostrer H.&nbsp;Prediction of breast cancer risk based on flow-variant analysis of circulating&nbsp;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.</p>
<p>diSibio G, Upadhyay K, Meyer P, Oddoux C, Ostrer H. Assessing risk for&nbsp;Mendelian disorders in a Bronx population. Mol Genet Genomic Med. 2017 Jul&nbsp;6;5(5):516-523. doi: 10.1002/mgg3.307. eCollection 2017 Sep. PubMed PMID: 28944235; PubMed Central PMCID: PMC5606885.</p>
<p>Upadhyay K, Loke J, O V, Taragin B, Ostrer H. Biallelic mutations in FLNB&nbsp;cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating &beta;-catenin.&nbsp;Clin Genet. 2018 Feb;93(2):412-416. doi: 10.1111/cge.13165. Epub 2017 Dec 26.&nbsp;PubMed PMID: 29095481.</p>
<p>Lee S, Kerns S, Ostrer H, Rosenstein B, Deasy JO, Oh JH. Machine Learning on a&nbsp;Genome-wide Association Study to Predict Late Genitourinary Toxicity After&nbsp;Prostate Radiation Therapy. Int J Radiat Oncol Biol Phys. 2018 May&nbsp;1;101(1):128-135. doi: 10.1016/j.ijrobp.2018.01.054. Epub 2018 Jan 31. PubMed&nbsp;PMID: 29502932; PubMed Central PMCID: PMC5886789.</p>
<p>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&nbsp;Cancer. 2018 Jan;9(1-2):66-77. doi: 10.18632/genesandcancer.165. PubMed PMID:&nbsp;29725504; PubMed Central PMCID: PMC5931251.</p>
<p>Kerns SL, Chuang KH, Hall W, Werner Z, Chen Y, Ostrer H, West C, Rosenstein B.&nbsp;Radiation biology and oncology in the genomic era. Br J Radiol. 2018&nbsp;Nov;91(1091):20170949. doi: 10.1259/bjr.20170949. Epub 2018 Jun 14. Review.&nbsp;PubMed PMID: 29888979.</p>
<p>Dadaev T, Saunders EJ, Newcombe PJ, Anokian E, Leongamornlert DA, Brook MN,&nbsp;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&nbsp;A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman P, Thompson IM Jr, Batra&nbsp;J, Chambers S, Moya L, Clements J, Horvath L, Tilley W, Risbridger G, Gronberg H,<br />Aly M, Nordstr&ouml;m T, Pharoah P, Pashayan N, Schleutker J, Tammela TLJ, Sipeky C,&nbsp;Auvinen A, Albanes D, Weinstein S, Wolk A, Hakansson N, West C, Dunning AM,&nbsp;Burnet N, Mucci L, Giovannucci E, Andriole G, Cussenot O, Cancel-Tassin G,&nbsp;Koutros S, Freeman LEB, Sorensen KD, Orntoft TF, Borre M, Maehle L, Grindedal EM,&nbsp;Neal DE, Donovan JL, Hamdy FC, Martin RM, Travis RC, Key TJ, Hamilton RJ,&nbsp;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&nbsp;RJ, FitzGerald LM, Kibel AS, Drake BF, Vega A, G&oacute;mez-Caama&ntilde;o A, Fachal L, Szulkin&nbsp;R, Eklund M, Kogevinas M, Llorca J, Casta&ntilde;o-Vinyals G, Penney KL, Stampfer M,&nbsp;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,&nbsp;R&oslash;der MA, Iversen P, Brenner H, Cuk K, Holleczek B, Maier C, Luedeke M,&nbsp;Schnoeller T, Kim J, Logothetis CJ, John EM, Teixeira MR, Paulo P, Cardoso M,&nbsp;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&nbsp;T, Larkin S, Townsend PA, Aukim-Hastie C, Gago-Dominguez M, Castelao JE, Martinez&nbsp;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,&nbsp;McDonnell SK, Schaid DJ, Lindstrom S, Turman C, Ma J, Hunter DJ, Riboli E, Siddiq&nbsp;A, Canzian F, Kolonel LN, Le Marchand L, Hoover RN, Machiela MJ, Kraft P;&nbsp;PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated&nbsp;Alterations in the Genome) Consortium, Freedman M, Wiklund F, Chanock S,&nbsp;Henderson BE, Easton DF, Haiman CA, Eeles RA, Conti DV, Kote-Jarai Z.&nbsp;Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis&nbsp;identifies candidate causal variants. Nat Commun. 2018 Jun 11;9(1):2256. doi:10.1038/s41467-018-04109-8. PubMed PMID: 9892050; PubMed Central PMCID:&nbsp;PMC5995836.</p>
<p>Fofanov VY, Upadhyay K, Pearlman A, Loke J, O V, Shao Y, Freedland S, Ostrer&nbsp;H. Rapid Next-Generation Sequencing Method for Prediction of Prostate Cancer&nbsp;Risks. J Mol Diagn. 2019 Jan;21(1):49-57. doi: 10.1016/j.jmoldx.2018.07.007. Epub&nbsp;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.</p>
<p>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&nbsp;disrupt distinct structural domains in the protein. Hum Mol Genet. 2019 Jan 4.&nbsp;doi: 10.1093/hmg/ddz002. [Epub ahead of print] PubMed PMID: 30608580.</p>
<p>Pearlman A, Rahman MT, Upadhyay K, Loke J, Ostrer H. Ectopic Otoconin 90 expression in triple negative breast cancer cell lines is associated with metastasis functions. PLoS One. 2019 Feb 14;14(2):e0211737. doi:10.1371/journal.pone.0211737. eCollection 2019. PubMed PMID: 0763339; PubMed Central PMCID: PMC6375562.</p>
<p>Kerns SL, Fachal L, Dorling L, Barnett GC, Baran A, Peterson DR, Hollenberg M, Hao K, Narzo AD, Ahsen ME, Pandey G, Bentzen SM, Janelsins M, Elliott RM, Pharoah PDP, Burnet NG, Dearnaley DP, Gulliford SL, Hall E, Sydes MR, Aguado-Barrera ME, G&oacute;mez-Caama&ntilde;o A, Carballo AM, Peleteiro P, Lobato-Busto R, Stock R, Stone NN, Ostrer H, Usmani N, Singhal S, Tsuji H, Imai T, Saito S, Eeles R, DeRuyck K, Parliament M, Dunning AM, Vega A, Rosenstein BS, West CML. Radiogenomics Consortium Genome-Wide Association Study Meta-analysis of Late Toxicity after Prostate Cancer Radiotherapy. J Natl Cancer Inst. 2019 May 16. pii: djz075. doi: 10.1093/jnci/djz075. [Epub ahead of print] PubMed PMID: 1095341.</p>
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<p>Harry Ostrer, MD, is Professor, Pathology, Genetics and Pediatrics at Montefiore Einstein. He is a medical geneticist who investigates the genetic basis of common and rare disorders.</p><p>After obtaining his Bachelor of Science from Massachusetts Institute of Technology in 1972, Dr. Ostrer earned his Doctor of Medicine from Columbia University in 1976. He then completed an internship in pediatrics at Johns Hopkins University School of Medicine in 1977 before becoming an assistant resident in pediatrics until 1978. Following this, Dr. Ostrer completed a neonatal and pediatrics clinical fellowship at the National Institutes of Health in 1981, followed by a postdoctoral fellowship in genetics in the department of pediatrics at Johns Hopkins in 1983.</p><p>In the diagnostic laboratory, Dr. Ostrer translates the findings of genetic discoveries into tests that can be used, either to identify people&rsquo;s risks for having a disease prior to its occurrence or for predicting its outcome once it has occurred. He studies the genetic basis of breast, colon and prostate cancer and adverse outcomes associated with their treatment, as well as the genetic basis for disorders of sex development and other rare conditions &mdash; he identified the role of the signal-transducing Mitogen-activated protein kinases (MAP) pathway in gonadal development.</p><p>Dr. Ostrer is board certified by the American Board of Medical Genetics and the American Board of Pediatrics. He is a member of the American Society of Human Genetics and founding fellow of the American College of Medical Genetics. Dr. Ostrer has received numerous awards for his work, such as the Henry W. Shotmeyer Award from the Skin Cancer Foundation and the Weizmann Institute of Science Award for Excellence.</p>