Gender	Female
E-mail	ninette.cohen@mssm.edu
Education and Training	Ph.D. , Tel Aviv University, Sackler School of Medicine
	M.Sc. , Tel Aviv University, Sackler School of Medicine
	Postdoctoral Fellowship , Mount Sinai School of Medicine

Education and Training	Ph.D. , Tel Aviv University, Sackler School of Medicine
	M.Sc. , Tel Aviv University, Sackler School of Medicine
	Postdoctoral Fellowship , Mount Sinai School of Medicine

Research
Research in the molecular cytogenetics laboratory is focused on chromosome rearrangement disorders and their mechanism of generation. Most chromosome rearrangements occur sporadically in the population at a specific frequency, depending on the disorder. The combined frequency of chromosome rearrangements, balanced and unbalanced, including translocations, deletions, duplications and inversions is estimated at 1 in 300 live births. For many of these disorders, genomic architecture plays an important role in susceptibility to rearrangement.
We are currently investigating the mechanism that generates the isodicentric Xq chromosome (idic(Xq)), a spontaneously occurring chromosomal aberration that is present in 18% of Turner Syndrome cases, and is the most common constitutional isochromosome in humans. We have collected a number of cell lines to delineate the breakpoints of the idic(Xq) in order to better understand how the architecture in the region of Xp11 influences formation of the isochromosome. Our methods of study include FISH and array CGH, generation of human hamster somatic hybrid cell lines, pulse field gel electrophoresis and long range PCR to amplify across breakpoint junctions. Ultimately, we would like to determine whether specific variations in genomic architecture at the breakpoint regions of recurrent rearrangements confer increased susceptibility to the rearrangement. The laboratory is also involved in a collaborative effort to understand how chromosome rearrangement disorders contribute to autism by investigating the frequency of known microdeletion and microduplication syndromes in autism patients as well as delineating novel de novo rearrangements in autism.

Cytogenetics/Molecular cytogenetics laboratory
Our Cytogenetics and Molecular Cytogenetics laboratory analyzes human chromosomes from amniotic fluid and chorionic villi (prenatal chromosome analysis), peripheral blood and skin biopsy for congenital anomalies, infertility, or other indications, and products of conception. In addition the laboratory offers both prenatal and postnatal Fluorescence in Situ Hybridization (FISH) analysis for a number of chromosome disorders, including DiGeorge syndrome, Williams syndrome, Prader Willi and Angelman syndromes, Wolf-Hirschhorn syndrome, Cri-du-Chat syndrome, Smith Magenis syndrome and Miller-Dieker syndrome. Our laboratory will be soon offering the newest molecular cytogenetics technique, array Comparative Genomic Hybridization (array-CGH) for the detection of chromosomal imbalances in individuals with unexplained mental retardation, developmental delay, autism spectrum disorders with/without multiple congenital anomalies. This novel technology will increase our ability to clinically detect chromosomal rearrangements that are not visible by standard karyotype analysis but involve genomic copy number changes. A whole genome array will be applied on postnatal samples while a more specific targeted array is being designed for prenatal testing.

Betts DR, Stanchescu R, Niggli FK, Cohen N, Rechavi G, Amariglio N, Trakhtenbrot L. SKY reveals a high frequency of unbalanced translocations involving chromosome 6 in t(12;21)-positive acute lymphoblastic leukemia.. Leuk Res 2008; 32: 39-43.

Pardo S, Blitman NM, Han BK, Cohen N, Edelmann L, Hirschhorn K. Translocation: A New Association with Wolf- Hirschhorn Syndrome.. Am. J. Med. Genet. 2008; 146: 219-224.

Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, Jimenez Gonzalez P, Manghi ER, Bondy P, Esquivel M, Monge S, Fallas Delgado M, Splendore A, Francke U, McInnes LA. An atypical deletion of the Williams-Beuren Syndrome interval implicates genes associated with defective visuospatial processing and autism.. J. Med. Genet. 2007; 44: 136-143.

Kneller A, Cohen N, Berkowicz M, Reichart M, Rosner E, Sokolovski M, Nagler A, Rechavi G, Amariglio N, Trakhtenbrot L. Acquisition of a Ph chromosome with minor BCR/ABL fusion in treatment-related myelodysplastic syndrome with chromosome 7 abnormalities in a patient treated for Hodgkin disease.. Cancer Genet Cytogenet. 2005; 159: 58-62.

Betts DR, Cohen N, Leibundgut KE, Kuhne T, Caflisch U, Greiner J, Trakhtenbrot L, Niggli FK. Characterization of karyotypic events and evolution in neuroblastoma.. Pediatr Blood Cancer 2004; 43: 1-11.