Personalized Genomic Medicine

Lab Directors and Their Research Interests

Mahesh Mansukhani, MD

Director, Personalized Genomic Medicine Laboratory; Associate Professor of Clinical Pathology & Cell Biology

Research Interests:  I have run the Molecular Pathology Laboratory – now the Division of Personalized Genomic Medicine - since 1999. The laboratory now has 10 full-time or part-time faculty, and performs over 40,000 tests a year, with over 30 NY State approved assays in genetics, oncology, and microbiology, using a myriad of techniques, including Sanger Sequencing, Real-Time assays, Next Generation Sequencing on the Illumina Platform, Affymetrix genomic arrays, etc. My research interests include the development and validation of new clinical assays in oncology and genetics, as well as the identification and evaluation of biomarkers for cancer diagnosis, prognosis, or response prediction.

Ali Naini, M.Sc, PhD

Director, Laboratory of Metabolic and Mitochondrial Diseases; Co-Director, Personalized Genomic Medicine Laboratory; Associate Professor of Pathology & Cell Biology

Research Interests:  My research focuses on the molecular bases of mitochondrial encephalomyopathies and human coenzyme Q10deficiencies. Understanding the molecular mechanisms precipitating these not too uncommon disorders has implications in aging and neurodegenerative disorders and may provide clues for the development of treatments for mitochondrial respiratory chain related diseases. Moreover, early detection of CoQ10 deficiencies is important because most of the affected patients improve with CoQ10 therapy.

Brynn Levy, M.Sc (Med)., PhD

Director, Genetics Laboratory; Co-Director, Personalized Genomic Medicine Laboratory; Professor of Pathology & Cell Biology

Research Interests:  My research laboratory focuses on reproductive medicine, including early prenatal screening using fetal cells/DNA from maternal circulation, pre-implantation genetic diagnosis, critical gene expression at implantation, etiology of recurrent miscarriage, and gynecologic syndromes/factors that contribute to infertility. My laboratory also works with new technologies for assessing genomic imbalance in neoplastic cells for uncovering factors involved in the initiation and progression of specific types of cancer.

Vimla S. Aggarwal, MBBS, FACMG

Assistant Director, Laboratory of Personalized Genomic Medicine; Assistant Director, Genetics Laboratory; Assistant Professor of Pathology & Cell Biology (at CUMC)

Research Interests:  I am interested in the identification of the molecular basis of genetically heterogeneous disorders (like autism) and the translation of new genetic technologies into the diagnostic arena to help provide improved patient care.

Vaidehi Jobanputra, PhD

Co-Director, Cytogenetics Laboratory; Co-Director, Personalized Genomic Medicine Laboratory; Assistant Professor of Pathology & Cell Biology

Research Interests:  My research focuses on clinical and translational research for constitutional disorders and cancer. We use genome-wide tools including chromosomal microarray (CMA) and Next-Generation sequencing (NGS) for comprehensive molecular characterization of genomic structural variants and single nucleotide variants associated with congenital heart disease, leukemia and lymphoma.

Susan Whittier, PhD

Director, Clinical Microbiology Laboratory; Assistant Professor of Pathology & Cell Biology

Research Interests:  My clinical/translational research focuses on improving the laboratory diagnosis of infectious diseases using molecular technologies.  I also have research interests in the microbiology of cystic fibrosis patients and optimizing the diagnosis of C. difficile disease.

Dorothy Warburton, PhD

Director Emeritus, Genetics Laboratory; Professor Emeritus of Genetics and Development

Research Interests:  My research laboratory focuses on the pathophysiological mechanisms underlying human chromosome variation and aberrations.

Vundavalli Murty, PhD

Director, Cancer Cytogenetics; Associate Director, Genetics Laboratory; Associate Professor of Clinical Pathology & Cell Biology

Research Interests:  My research focuses on genome-wide search for genetic and epigenetic pathways in cervical cancer and hematologic malignancies. The major goal is to identify diagnostic and prognostic genetic markers in these tumor types.

Lorraine Clark, PhD

Co-Director, Personalized Genomic Medicine Laboratory; Associate Professor of Clinical Pathology & Cell Biology

Research Interests:  Our research uses genetic and genomic approaches to study the basis of neurodegenerative disease with a focus on common age-related neurodegenerative disorders including Parkinson’s disease, dementia with Lewy bodies, and Essential Tremor.

Susan Hsiao, MD, PhD

Assistant Professor of Pathology and Cell Biology

Research Interest:  I am interested in molecular mechanisms and molecular diagnostics of tumors.

Anthony Sireci, MD

Physician Manager, Assistant Professor of Clinical Pathology

Research Interest: I am interested in developing process improvement plans in the laboratory setting to help deliver higher quality and more efficient care to our patients. My primary focus is on the development, implementation and tracking of quality metrics in the clinical laboratory.

Andrew Turk, MD

Assistant Professor of Clinical Pathology

Research Interest: I am interested in the molecular genetic pathology of endocrine and head & neck diseases. In particular, my focus is the genetic and genomic alterations that underlie thyroid and salivary gland lesions, including the histopathologic correlations and clinical significance of those alterations.

 
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