Division of General Internal
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Rochelle Hirschhorn, MD

Rochelle Hirschhorn, MD

Rochelle Hirschhorn, MD; Research Professor

Phone: 212-263-6276 / 212-263-2284
Fax: 212-982-0809
E-mail: rochelle.hirschhorn@med.nyu.edu

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Dr. Rochelle Hirschhorn is a Professor of Medicine, Cell Biology and Pediatrics and is currently the head of the Section of Genetics in the Division of General Medicine.  Dr. Hirschhorn earned her MD from NYU School of Medicine  and served as a house officer in Medicine at Bellevue and University Hospital.  She completed her Fellowship training in Rheumatology at NYU and in Human Genetics at the Galton Laboratory of University College London and at Harvard Medical School.  She is a Master of the American College of Rheumatology, a Founding Fellow of the American College of Medical Genetics and a Fellow of the American Association for the Advancement of Science. 

Dr. Hirschhorn has done seminal work in cellular immunology, leukocyte biology, inherited immunodeficiency and lysosomal storage diseases. Her discoveries have led to new therapies for adenosine deaminase deficiency, a form of severe combined immunodeficiency and for alpha glucosidase deficiency, the defect in Glycogen Storage Disease Type II (Pompe disease).  She has published 200 scientific papers and reviews in leading journals and books

Dr. Hirschhorn served as the longstanding NYU School of Medicine counselor for the AOA honor society as well as  serving on numerous NIH Study sections, and on the  Board of Scientific Counselors for NIH AID  She was elected to the ASCI, AAP, the Interurban Clinical Club as the first female member and to the Institute of Medicne of the National Academy of Sciences.  She has received the Distinguished Alumna award from Barnard College and the Solomon A Berson Medical Alumni achievement Award from NYU.

Education/Training:
Medical Education
 NYU 1957
Postdoctoral Training Research Fellow and Teaching Assistant in the Department of Medicine at NYU Medical Center from 1963-1965. She was an Associate Research Scientist in the Department of Medicine 1965-1966; Molecular Genetics, Harvard SOM (Childrens Hospital) Sr. Stuart Orkin
Internships
 Dr. Hirschhorn began her internship in the IV Medical Division at NYU-Bellevue in 1958-1959. She was
Clinical Fellowships
 NYUSOM (Arthritis Foundation)
Board Certifications
 Genetics 1987
 

Selected Publications:

1. Huie ML; Kasper JS; Arn PH; Greenberg CR; Hirschhorn R. "Erratum: Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations (Am J Med Genet 85: 5-8(1999)) (American Journal of Medicine Genetics (199) 85 (5-8))". American journal of medical genetics. 2005; 137A: 114 (#J0105372)
2. Hirschhorn R. "In vivo reversion to normal of inherited mutations in humans". Journal of medical genetics. 2003; 40: 721 (#J0053032)
3. Fernandez-Hojas R; Huie ML; Navarro C; Dominguez C; Roig M; Lopez-Coronas D; Teijeira S; Anyane-Yeboa K; Hirschhorn R. "Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)". Neuromuscular disorders. 2002; 12: 159 (#J0053622)
4. Hirschhorn R; Huie ML; Kasper JS. "Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31". Proceedings of the National Academy of Sciences of the United States of America. 2002; 99: 13642 (#J0053859)
5. Huie ML; Anyane-Yeboa K; Guzman E; Hirschhorn R. "Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II". American journal of human genetics. 2002; 70: 1054 (#J0054025)
6. Moallem HJ; Taningo G; Jiang CK; Hirschhorn R; Fikrig S. "Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious". Clinical immunology. 2002; 105: 75 (#J0108038)
7. Meek K; Kienker L; Dallas C; Wang W; Dark MJ; Venta PJ; Huie ML; Hirschhorn R; Bell T. "SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency". Journal of immunology. 2001; 167: 2142 (#J0108040)
8. Pauly DF; Fraites TJ; Toma C; Bayes HS; Huie ML; Hirschhorn R; Plotz PH; Raben N; Kessler PD; Byrne BJ. "Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease". Human gene therapy. 2001; 12: 527 (#J0108041)
9. Tsujino S; Huie M; Kanazawa N; Sugie H; Goto Y; Kawai M; Nonaka I; Hirschhorn R; Sakuragawa N. "Frequent mutations in Japanese patients with acid maltase deficiency". Neuromuscular disorders. 2000; 10: 599 (#J0108042)
10. Huie ML; Kasper JS; Arn PH; Greenberg CR; Hirschhorn R. "Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop". American journal of medical genetics. 1999; 85: 5 (#J0103987)
11. Ponce E; Witte DP; Hirschhorn R; Huie ML; Grabowski GA. "Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation". American journal of pathology. 1999; 154: 1089 (#J0108043)
12. Huie ML; Menaker M; McAlpine PJ; Hirschhorn R. "Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4)". Annals of human genetics. 1996; 60: 365 (#J0010255)
13. Kuo WL; Hirschhorn R; Huie ML; Hirschhorn K. "Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization". Human genetics. 1996; 97: 404 (#J0108044)
14. Healy PJ; Nicholls PJ; Martiniuk F; Tzall S; Hirschhorn R; Howell JM. "Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle". Australian veterinary journal. 1995; 72: 309 (#J0014090)
15. Hirschhorn R. "Adenosine deaminase deficiency: molecular basis and recent developments". Clinical immunology & immunopathology. 1995; 76: S219 (#J0104308)
16. Hirschhorn R. "Genetic mosaicism: what Gregor Mendel didn't know [editorial] [comment]". Journal of clinical investigation. 1995; 95: 443 (#J0108065)
17. Hirschhorn R; Yang DR; Israni A. "An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover". Annals of human genetics. 1994; 58: 1 (#J0011135)
18. Hirschhorn R; Yang DR; Israni A; Huie ML; Ownby DR. "Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery". American journal of human genetics. 1994; 55: 59 (#J0104084)
19. Huie ML; Chen AS; Tsujino S; Shanske S; DiMauro S; Engel AG; Hirschhorn R. "Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation". Human molecular genetics. 1994; 3: 2231 (#J0104862)
20. Huie ML; Chen AS; Brooks SS; Grix A; Hirschhorn R. "A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)". Human molecular genetics. 1994; 3: 1081 (#J0104203)
21. Huie ML; Hirschhorn R; Chen AS; Martiniuk F; Zhong N. "Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)". Human mutation. 1994; 4: 291 (#J0104204)
22. Yang DR; Huie ML; Hirschhorn R. "Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID)". Clinical immunology & immunopathology. 1994; 70: 171 (#J0011084)
23. Hirschhorn R. "Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency". Pediatric research. 1993; 33: S35 (#J0011568)
24. SHEARER, WT; ROSENBLATT, HM; SCHLUCHTER, MD; MOFENSON, LM; DENNY, TN; WILLOUGHBY, A; NUGENT, R; MOYE, J; BERENDES, HW; RIGAPEREZ, JG; DURAKO, S; JORDAN, C; HIRSCHHORN, R; BETHEL, J; SHAH, K; CHOW, J; EDELSON, P; SANDERS, D; BONAGURA, V; VALACER, D; HENLEY, W; BAMJI, M; GU. "IMMUNOLOGICAL TARGETS OF HIV-INFECTION - T-CELLS". Annals of the New York Academy of Sciences. 1993; 693: 35 (#J0091622)
25. Cronstein BN; Levin RI; Philips M; Hirschhorn R; Abramson SB; Weissmann G. "Neutrophil adherence to endothelium is enhanced via adenosine A1 receptors and inhibited via adenosine A2 receptors". Journal of immunology. 1992; 148: 2201 (#J0006214)
26. Hirschhorn R; Ellenbogen A; Tzall S. "Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID)". American journal of medical genetics. 1992; 42: 201 (#J0012206)
27. Hirschhorn R. "Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions". Human mutation. 1992; 1: 166 (#J0012355)
28. Hirschhorn R; Nicknam MN; Eng F; Yang DR; Borkowsky W. "Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency". Journal of immunology. 1992; 149: 3107 (#J0011709)
29. Hirschhorn R; Chakravarti V; Puck J; Douglas SD. "Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID)". American journal of human genetics. 1991; 49: 878 (#J0012498)
30. Martiniuk F; Mehler M; Bodkin M; Tzall S; Hirschhorn K; Zhong N; Hirschhorn R. "Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele". DNA & cell biology. 1991; 10: 681 (#J0012446)
31. Martiniuk F; Bodkin M; Tzall S; Hirschhorn R. "Isolation and partial characterization of the structural gene for human acid alpha glucosidase". DNA & cell biology. 1991; 10: 283 (#J0012772)
32. Martiniuk F; Hirschhorn R; D'Eustachio P. "Linkage of acid alpha-glucosidase (Gaa) and thymidine kinase (Tk-1) to esterase-3 (Es-3) on mouse chromosome 11". Mammalian genome. 1991; 1: 267 (#J0013036)
33. Tzall S; Martiniuk F; Ozelius L; Gusella J; Hirschhorn R. "Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus". Nucleic acids research. 1991; 19: 1727 (#J0012783)
34. Tzall S; Martiniuk F; Hirschhorn R. "Identification of a HindIII and a TaqI RFLP at the acid alpha glucosidase (GAA) locus". Nucleic acids research. 1991; 19: 1727 (#J0012782)
35. Zhong N; Martiniuk F; Tzall S; Hirschhorn R. "Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele". American journal of human genetics. 1991; 49: 635 (#J0012563)
36. Haines JL; Ozelius LJ; McFarlane H; Menon A; Tzall S; Martiniuk F; Hirschhorn R; Gusella JF. "A genetic linkage map of chromosome 17". Genomics. 1990; 8: 1 (#J0014093)
37. Hirschhorn R; Tzall S; Ellenbogen A. "Hot spot mutations in adenosine deaminase deficiency". Proceedings of the National Academy of Sciences of the United States of America. 1990; 87: 6171 (#J0108045)
38. Martiniuk F; Mehler M; Tzall S; Meredith G; Hirschhorn R. "Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA". American journal of human genetics. 1990; 47: 73 (#J0014094)

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 Rochelle Hirschhorn, MD