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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Ankita Patel, Ph.D.

Ankita Patel, Ph.D.

Associate Professor of Molecular and Human Genetics

Other Positions

Director, Cytogenetics and Microarray Laboratories, BCM Medical Genetics Laboratories


B.S., Old Dominion University, 1989
Ph.D., Eastern Virginia Medical School, 1996
Fellow, Clinical Cytogenetics, John Hopkins Hospital, 2002

Research Interests

My research interest primarily is in developing new diagnostic technologies for the clinical cytogenetics laboratory and cancer genetics. The Kleberg Cytogenetics Laboratory has been in the forefront of developing the most extensive FISH testing menu for microdeletion syndromes in the country and recently with collaboration from many members of the department we have launched a DNA based microarray technology that can diagnose majority of the known microdeletion syndromes in one assay. Currently we are involved in validation of the microarray analysis for prenatal diagnosis for chromosome abnormalities and the microdeletion syndromes.

With respect to cancer genetics, the laboratory is focused in offering extensive FISH testing for leukemia and also developing a microarray chip for diagnostic testing of chronic lymphocytic leukemia (CLL).

B-cell chronic lymphocytic leukemia (CLL) is the most common leukemia in the Western hemisphere; it accounts for about 25 percent of all leukemias in the United States. The clinical course of CLL is heterogeneous and difficult to predict. Cytogenetic studies using fluorescence in situ hybridization (FISH) have demonstrated that most cases of CLL contain non-random cytogenetic abnormalities with genomic imbalances such as deletions and gains are more frequently seen than translocations. Trisomy 12 is the most common clonal abnormality seen in CLL and has been correlated to advanced stage disease and shorter survival time. Deletion of 13q14 is the next common cytogenetic abnormality seen in CLL and is correlated to favorable prognosis. Deletions of 11q are the most common aberration associated with disease progression and reduced survival. Deletion and mutations of p53 tumor suppressor gene at chromosome 17p13 has a strong implication for the clinical course of the disease. Some other chromosome aberration identified in CLL include deletion of 6q, partial or total trisomy of 3, and translocation and deletion of 14q32. Although FISH has increased the sensitivity of detecting the above mentioned chromosome abnormalities it becomes time consuming and labor intensive to screen all possible CLL implicated chromosome regions simultaneously. Therefore, a high throughput genomic analysis tool is required for a fast and a sensitive diagnostic analysis of CLL. We are currently developing a CLL targeted microarray chip to that will not only allows rapid and sensitive identification of genomic imbalances in CLL but also allow narrowing of the critical regions and identification of pathologically relevant genes. The ability to include all loci implicated in CLL could lead to a better molecular stratification of this disease.

Selected Publications

  1. Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A (2008). Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat. Genet. 40(12): 1466-71. PubMed PMID: 19029900
  2. Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A (2008). 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am. J. Hum. Genet. 82(1): 214-21. PubMed PMID: 18179902
  3. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A (2008). Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet. Med. 10(4): 267-77. PubMed PMID: 18414210
  4. Patel A, Kang SH, Lennon PA, Li YF, Rao PN, Abruzzo L, Shaw C, Chinault AC, Cheung SW (2007). Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia. Am. J. Hematol. 83(7): 540-6. PubMed PMID: 18161787
  5. Patel AS, Murphy KM, Hawkins AL, Cohen JS, Long PP, Perlman EJ, Griffin CA (2007). RANBP2 and CLTC are involved in ALK rearrangements in inflammatory myofibroblastic tumors. Cancer Genet. Cytogenet. 176(2): 107-14. PubMed PMID: 17656252
  6. Patel AS, Hawkins AL, Griffin CA (2000). Molecular Cytogenetics in Cancer Research. Curr. Opin. Oncol. 12(1): 62-7. PubMed PMID: 10687731
  7. Patel AS, Schechter GL, Wasilenko WJ, Somers KD (1998). Overexpression of EMS1/cortacin in NIH3T3 fibroblasts causes increased cell motility and invasion in vitro. Oncogene 16(25): 3227-32. PubMed PMID: 9681820
  8. Patel AM, Incognito LS, Schechter GL, Wasilenko WJ, Somers KD (1996). Amplification and expression of ems-1(cortactin) in head and neck squamous cell carcinoma cell lines. Oncogene 12(1): 31-5. PubMed PMID: 8552396

Contact Information

Ankita Patel, Ph.D.
Director, MGL Microarray and Cytogenetics Laboratories
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, MS NAB 2015
Houston, TX, 77030, U.S.A.

Phone: 713-798-8534
Fax: 713-798-6584

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