Norma Nowak, The Founder of Empire Genomics

About The Founder

Recent Publications

Molecular karyotypes of Hodgkin and Reed-Sternberg cells at disease onset

To determine the recurring DNA copy number alterations (CNAs) in classical Hodgkin lymphoma (HL) by microarray-based comparative genomic hybridization (aCGH) using laser capture micro-dissected CD30+ Hodgkin/Reed-Sternberg (HRS) cells.

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Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome

A 4.3 Mb duplication of chromosome 21 bands q22.13–q22.2 was diagnosed by interphase fluorescent in situ hybridisation (FISH) in a 31 week gestational age baby with cystic hygroma and hydrops; the duplication was later found in the mother and in her 8-year-old daughter.

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Gab2-Mediated Signaling Promotes Melanoma Metastasis

In an attempt to identify genes that contribute to melanoma pathogenesis, a genome-wide search using bacterial artificial chromosome array comparative genomic hybridization and single nucleotide polymorphism arrays.

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Recurrent 16p11.2 microdeletions in Autism

We discovered a recurrent 16p11.2 microdeletion in two probands with autism and none in controls. The deletion spans approximately 500-kb and is flanked by approximately 147-kb segmental duplications (SDs) that are >99% identical, a common characteristic of genomic disorders.

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Norma Jean Nowak, Ph.D., is recognized as a leader in the field of human genomics. Her research contributed directly to the Human Genome Project, as well as to genomic based approaches to understanding heritable disorders and cancer. In 2015, Dr. Nowak was named executive director for the University at Buffalo New York State Center for Excellence in Bioinformatics and Life Sciences, and holds the rank of Professor of Biochemistry. In addition, Dr. Nowak is the founder and Chief Scientific Officer of Empire Genomics LLC, a molecular diagnostics firm focused on enabling personalized medicine. Dr. Nowak was appointed to the Empire State Stem Cell Board in 2014.

She previously served as the director of science and technology for UB’s New York State Center for Excellence in Bioinformatics and Life Sciences from 2003-2015, as well as director of the UB/RPCI Genomics Facility from 1999-2012, a collaborative research lab shared by UB School of Medicine and Biomedical Sciences and Roswell Park Cancer Institute. Prior to that, she was involved for 14 years in research at RPCI developing physical clone resources for cloning disease genes and mapping the human genome.

Among her major achievements, Nowak has authored landmark papers describing the cloning of several heritable cancer disorders, including a form of Ataxia Telangiectasia (Nijmegen Breakage Syndrome). Her work on the Human Genome Project was published in the 2001 landmark genome issue of Nature describing the sequencing of the human genome. Dr. Nowak led and coordinated the three groups for the NCI extramural Cancer Chromosome Aberration Project. As part of this project, Dr. Nowak also developed BAC based array CGH (Comparative Genomic Hybridization) a microarray-based method for identifying numerical differences in DNA between tumor and normal cells and cells from individuals with genetic disorders including autism and other developmental disorders. The results of this work were published in Nature Genetics. She also was a key member of the GENSAT project studying spatial and temporal gene expression during development of the central nervous system in mice, and this work was published in the 2003 genome edition of Nature. Dr. Nowak received the 2008 American Association of Cancer Research (AACR) Team Science award for the development of CGH (Comparative Genomic Hybridization) and array CGH technology. In addition she was awarded the 2008 Thomas B.Tomasi award for her outstanding achievements in science by the Roswell Park Cancer Institute.

Dr. Nowak has authored or co-authored more than 145 research articles in leading scientific journals and has served as an associate editor of Physiological Genomics. She is currently on the editorial board of Cytogenetics and Genome Research as an Associate Editor.

To Speak With Norma Nowak, Call 1-800-715-5880