Specialty	Clinical Genetics - MD , Internal Medicine , Pediatrics
Clinical Interests	Prenatal Diagnosis
	Immunology
Languages	English
	German
Gender	Male
E-mail	kurt.hirschhorn@mssm.edu
Education and Training	MD, New York University
	Residency, Internal Medicine, New York University Medical Center
	Residency, Internal Medicine, New York University Medical Center
	Fellowship, Genetics, State Institute of Human Genetics
	Fellowship, Research, American Heart Association
	Fellowship, Metabolism, Bellevue Hospital

Education and Training	MD, New York University
	Residency, Internal Medicine, New York University Medical Center
	Residency, Internal Medicine, New York University Medical Center
	Fellowship, Genetics, State Institute of Human Genetics
	Fellowship, Research, American Heart Association
	Fellowship, Metabolism, Bellevue Hospital
Board Certification	Clinical Genetics - MD
	Internal Medicine

Specialty	Clinical Genetics - MD , Internal Medicine , Pediatrics
Clinical Interests	Prenatal Diagnosis
	Immunology
Languages	English
	German
Board Certification	Clinical Genetics - MD
	Internal Medicine

1.    Cytogenetics
a.    Use of molecular and cytogenetic techniques such as in situ hybridization, comparative genomic hybridization (CGH) and/or FISH for refined diagnosis and mapping of genetic loci.
 b.    Chromosomal Abnormalities: Use of chromosome elongation (late prophase preparations), newer banding techniques and FISH to characterize structural alterations in chromosomes of parents with congenital malformation syndromes and in couples with infertility/recurrent miscarriages.
2.    Clinical Genetics/Prenatal Diagnosis:
a.    Application of genetic technology to the diagnosis, management and treatment of patients and families with genetic disease.
b.    Delineation of new syndromes.
c.    Genetic counseling methodology and assessment.
d.    Prenatal Genetics: Studies designed to develop new and improved  methods for the prenatal diagnosis and/or treatment of chromosomal, biochemical or multifactorial disorders.   Preimplantation diagnosis by CGH to detect chromosomal abnormalities in polar bodies and 8-cell embryos.    Application of molecular diagnostic techniques for precise diagnosis of disorders whose genes are expressed in specific tissues.  Analysis of fetal cells in maternal blood and in the endocervical canal.

Immunodeficiency Disorders. In: Hirschhorn K, Hirschhorn R, editors. Emery's & Rimoin's Principles and Practice of Medical Genetics. Philadelphia, Churchill Livingstone; pp1835-1856.

Shaffer LG, Bocian M, Hirschhorn K, Schwartz S, Shapiro LR. American College of Medical Genetics guideline on the cytogenetic evaluation for the individual with developmental delay or mental retardation. Genet. in Med 2005; 7: 650-654.

Menasha J, Kardon NB, Hirschhorn K, Levy B. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: New insights from a 12-year study. Genet. Med 2005; 7: 251-263.

Bergemann AD, Hirschhorn K, Cole F. The Etiology of the Wolf-Hirschhorn Syndrome. Trends in Genetics 2005; 21: 188-195.

Oleskey C, Fleischman A, Goldman L, Hirschhorn K, McCally M, Lappe M, Marshall MF, Needleman H, Rhodes R, Landrigan PJ. Pesticide testing in Humans: Ethics and Public Policy. Environmental Health Perspectives 2004; 112: 914-919.

Hirschhorn K, Diaz GA, editors. Molecular Genetics: Developmental and Clinical Implications. Saunders; pp16-25.

Characterization of Constitutional Chromosome Abnormalities by Comparative Genomic Hybridization. In: Hirschhorn K, Levy B, editors. New Jersey, Humana Press; pp121-132.

Wells D, Escudero T, Levy B, Munn S, Cohen J, Delhanty JA, Hirschhorn K. First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil. Steril 2002; 78: 543-549.

Li S, Malafiej P, Levy B, Mahmood M, Field M, Hughes T, Warburton PE, Wu Z, Huang M, Hirschhorn K, Velagaleti GV, Daniel A, Lockhart LH. Chromosome 13q neocentromeres: Molecular cytogenetic characterization of three additional cases and clinical specturm. Am. J. Med. Genet 2002; 110: 258-267.

Topaloglu AK, Willner JP, Hirschhorn K, Levy B. Inherited duplication of Xq27.1-qter detected by comparative genomic hybridization in a male with seizure disorder: Report of a patient and review of the literature. Ann. Med. Sci 2002; 11: 7-12.