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Ayala Aviram–Goldring, Ph.D.
Senior Director Cytogenetics and Molecular Genetics Laboratories, Department of Pathology and Laboratory Medicine

North Shore-Long Island
Jewish Health System
270-05 76th Avenue
New Hyde Park, NY 11040
Phone: (516) 562-3911
Fax: (718) 470-1034
aaviram@nshs.edu

Ayala Aviram–Goldring, Ph.D.

Project Involvement: Tissue Core/Cytogenetics (FISH)

Research Statement:

My research studies are dealing with understanding  chromosomal abnormalities and small regions of genomic imbalances, in genetic diseases and in cancer, in Preimplantation Genetic Analysis, in prenatal, and postnatal diagnosis, using advanced molecular-cytogenetic techniques, by developing new applications of Array CGH technology.

Developed  research and clinical diagnosis, in advanced molecular-cytogenetic using the FISH techniques.  Identifying chromosomal imbalances and aneuploidies in prenatal diagnosis of uncultured amniotic cells and chorionic villous cells, in syndromes with unique sequence deletions and in recurrent abortions (Pub. List: Gothelf D, et al, 1997, Daniely M, et al, 1998, Aviram-Goldring A, et al, (1999a,1999b), Aviram-Goldring A, et al,2000a 2000b.2000c,Gothelf D, et al, 2004, Zung A, et al, 2006, Gothelf D, et al, 2006, Gothelf D, et al, 2007, Chapter in Book : Feldman B, et al, 2002).

Developed new techniques for simultaneous visualization of 24 or more DNA probes to identify chromosomes in interphase nuclei, The application of this technique was to study the nuclear organization of chromosomes in normal cells and in cells with numerical and structural abnormalities and to understand the chromosome architecture and arrangements in normal and tumor cell nuclei, as well as to improve diagnosis of chromosome aberrations and diagnosis. (Research was submitted by the GIF Grant (the German-Israeli Foundation for scientific research and Development) with Prof. T. Cremer, Dr. M.R. Speicher (Munich University) and Dr. R. Eils (Heidelberg University).

Developing a study for identify aneuploidies in sperm cells retrieved from azospermic men, patients with severe male infertility and abnormal sperm morphology. The purpose of this study was to analyze the frequency of aneuploidy in sperm cells - A research that received a prize in the ASRM and fertility and sterility, San Francisco, California, USA (Pub. List : Weissenberg, R, et al, 1998, Levron J, et al, 2000, Levron J, et al, 2001a,2001b Levron J, et al, 2003, Weissenberg R, et al, 2007, Chapter in Book: Levron J, et al, 2003).

Developing the use of CGH (Comparative Genomic Hybridization) to detect and map complete or partial chromosome gains and losses and to characterize whole and segmental aneuploidies on amniotic cells, blood cells, tissues derived from recurrent abortuses, and chorionic villi sampling (Pub. List: Daniely M, et al,1998a, 1998b, 1999a, 1999b, Aviram-Goldring A, et al, 2000, Carp H et al, 2001, Daniely M, et al, 2001).

Developing the use of CGH (Comparative Genomic Hybridization) to detect and map complete or partial chromosome gains and losses in solid tumor cells: pediatric brain tumors, neuroblastomas, meningiomas, craniopharyngiomas, lung cancer, pituitary tumors, ovarian tumors and  breast cancer. (Pub. List: Aviram-Goldring A, et al, 2000 Rienstein S, et al, 2000, Patael-KarasikY, et al, 2000, Rienstein S, et al, 2001, Rienstein S, et al, 2003).

Collaborations on CGH applications with Prof. Rehder Helga (Head of genetic institute in Phillips university in Marbourg, Germany) in identifying patients with microdeletions using Molecular Cytogenetic studies (Pub. List: Aviram-Goldring A et al, 2000a, 2000b, 2000c, Makhoul IR et al, 2000).

Research on genomic alteration in familial and sporadic ovarian cancer, using CGH and FISH analysis to identify chromosomal abnormalities. (Pub. List: Israeli O, et al, 2003, Israeli O, et al, 2004, Israel O, et al, 2005, Bruchim I, et al, 2009).

Developing a study to analyzing both the genomic content and the large scale gene expression patterns in tumor samples obtained from patients with resectable (I-IIIa) NSCLC- most common lung cancer - non small cell lung cancer , and pediatric low grade gliomas to identify chromosomal abnormalities using the CGH technique and oligonucleotide microarrays to provide a comprehensive transcriptional profile of NSCLC. (Abs List: Aviram-Goldring A.et al, (2001) European Cytogenetics Conference, Paris, France. Tabori U et al, 2005, Pub. List: Dehan E et al, 2007).

Research on identifying fetal cells in maternal blood: Analysis of fetal cells in maternal circulation using molecular cytogenetic cells (Pub. List: Gueta E, et al, 2004, Chapter in Book: Guetta E, et al, 2001).

Developing Preimplantaion Genetic Diagnosis (PGD) by comprehensive chromosomal analysis using whole  genome amplification of single cell and Array CGH techniques. Developing the CGH techniques on single cell allow the entire genome to be scanned, and provide an insight into the nature of chromosome imbalances in embryos. Aneuploidy screening of blastomers, using those two methods, FISH and Array CGH will offer the possibility of wide application for prevention genetic diseases in IVF embryos (Abs List:  Aviram-Goldring A, et al, 2002, 20303a, 2003b, 2003c, 2003d, 2004a, 2004b, 2004c, 2005 2006, ,Levron J, et al, 2005, Shamash J, 2007, Pub. List: Shefi S et al, 2009).

Research on using Array CGH to avoid interchromosomal effect:  The use of molecular cytogenetic methods for genomic analysis of human embryos and stem cells and assess the advantages and limitations of the cytogenetic technologies, for a better understanding of the genomic stability and repair mechanisms (Abs. list: Dekel M et al, 2006), Aviram-Goldring A, et al,  2007, Shamash J, et al, 2007, Dekel M, et al, 2009).

Research on identifying balanced translocation carriers and PGD embryos using combined methods of FISH, Array CGH and polymorphic markers, (Abs List: Aviram- Goldring A,et al, 2008, Shamash J,et al, 2009).

Developing the array of CGH techniques on single cells (Blastomers and cancer cells), which will allow the entire genome to be scanned, and will provide an insight into the nature of chromosome imbalances. Aneuploidy screening of single cells using FISH and Array CGH will offer the possibility of wide application for prevention genetic diseases. (Abs List: Aviram- Goldring A,et al, 2008, Shamash J, et al, 2009).


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