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University of Miami >> Miller School of Medicine >> Office of Graduate Studies >> Faculty Research >> Human Genetics

Human Genetics
Faculty MemberContact
Deborah  Barbouth, M.D., F.A.C.M.G. Deborah Barbouth, M.D., F.A.C.M.G.
Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Research Summary
Identify the attitudes and barriers towards Jewish genetic diseases among the young Jewish population of South Florida. Another project involves clinical research in Fragile X and in MPS1
305-243-6048 (ph)
305-243-3919 (fax)
Room 5036, Mailman Center for Child Development
email 
Lisa  Baumbach-Reardon, Ph.D. Lisa Baumbach-Reardon, Ph.D.
Associate Research Professor, Department of Pediatrics
Research Summary
We have two major projects in our laboratory. The first project involves the discovery earlier this year of the disease gene for a rare infantile neurodegenerative disorder, X-linked spinal muscular atrophy. The second project focuses on the genetic basis of breast cancer in women of African ancestry.
305-243-3997 (ph)
Room 6020, Mailman Center for Child Development
 
Nanette  Bishopric, M.D., F.A.C.C. Nanette Bishopric, M.D., F.A.C.C.
Professor of Pharmacology and Medicine
Research Summary
"Cardiac myocyte growth and death, transcriptional and post-transcriptional control of cell growth"
305-243-6775 (ph)
305-243-6082 (fax)
Rosenstiel Medical Sciences Building 6038
email 
Susan  Blanton, Ph.D. Susan Blanton, Ph.D.
Associate Professor Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics
Research Summary
 work on the statistical aspect of mapping genes for a variety of Mendelian and complex disorders.  Among the disorders I am researching are: retinal diseases, deafness, club foot, cleft lip/palate, and stroke.  In addition to mapping genes for deafness, I am also studying the effect that the unique mating structure of the deaf community has on the incidence of various forms of deafness.  Lastly, I am also involved in genomic medicine and trying to integrate it into the private primary care setting.
(305) 243-8779 (ph)
(305) 243.2396 (fax)
Room 406, Biomedical Research Building
email 
Nirupa  Chaudhari, Ph.D. Nirupa Chaudhari, Ph.D.
Professor, Physiology and Biophysics
Research Summary
We study mechanisms of transduction and cellular communication in sensory and other cells. We develop transgenic mouse models and fluorescent reporters to visualize cell function in real time. We also analyze patterns of gene expression in complex tissues to understand the roles and differentiation of diverse cell types.
305-243-3427 (ph)
305-243-5931 (fax)
Rosenstiel Medical Science Building - 4062
email 
Zhibin  Chen, M.D., Ph.D. Zhibin Chen, M.D., Ph.D.
Assistant Professor of Microbiology & Immunology
Research Summary
Our research program focuses on mechanisms of immune tolerance and its application to type 1 diabetes and islet transplantations.
305-243-8348 (ph)
305-243-5522 (fax)
Room 3035 (Office), 3039A (Lab) Rosenstiel Medical Sciences Building
email 
Nevis L. Fregien, Ph.D. Nevis L. Fregien, Ph.D.
Associate Professor of Cell Biology & Anatomy
Research Summary

Control of Cell Differentiation Regulation of Gene Expression

(305) 243-6941 (ph)
(305) 545-7166 (fax)
RMSB, Room 4110
email 
John R. Gilbert, Ph.D. John R. Gilbert, Ph.D.
Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics.
Research Summary
Dr. Gilbert's research focuses on applications of genome technology to human genetics and the molecular genetics of autism, Alzheimer disease, Essential Tremor, and infectious disease such as tuberculosis. As a molecular biologist, his expertise is in gene analysis and characterization, positional cloning, mutation analysis, and animal models of human disorders.
305-243-6177 (ph)
305-243-2396 (fax)
Room 510, Biomedical Research Building
email 
Jeffrey  Goldberg, M.D.,Ph.D. Jeffrey Goldberg, M.D.,Ph.D.
Assistant Professor, Ophthalmology
Research Summary
"We study survival and regeneration in the developing and adult nervous system, bridging molecular, cellular, and in vivo approaches. Additional projects focus on the use of stem cells and nanotechnology."
(305) 547-3720 (ph)
McKnight Vision Research Center - 4th Floor
email 
Feng  Gong, Ph.D. Feng Gong, Ph.D.
Assistant Professor, Department of Biochemistry & Molecular Biology
Research Summary

To understand the mechanisms of chromatin dynamics during DNA .

(305) 243-9270 (ph)
(305) 243-3955 (fax)
email 
Abigail  Hackam, Ph.D. Abigail Hackam, Ph.D.
Assistant Professor, Ophthalmology
Research Summary
Cellular mechanisms of photoreceptor degeneration and survival; Signaling pathways regulating ocular tumorigenesis and tumor stem cell proliferation.
(305) 243-9270 (ph)
(305) 243-3955 (fax)
McKnight Vision Research Center - 407
email 
Dale J. Hedges, Ph.D. Dale J. Hedges, Ph.D.
Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics
Research Summary
Molecular and bioinformatics approaches to the investigation of human retrotransposon biology and associated genetic instability. Additional interests include the molecular genetics of Autism and genomic structural variaiton.
305-243-6177 (ph)
305-243-2396 (fax)
Room 527, Biomedical Research Building
email 
Jennifer J. Hu, Ph.D. Jennifer J. Hu, Ph.D.
Professor, Department of Epidemiology and Public Health, Associate Director, Division of Cancer Prevention and Control, Sylvester Comprehensive Cancer Center
305-243-3356 (ph)
305-243-2997 (fax)
Clinical Research Building, Room 1511
email 
Richard  Lee, M.D., Ph.D. Richard Lee, M.D., Ph.D.
Assistant Professor, Ophthalmology
Research Summary
My lab studies molecular pathways important for retinal ganglion cell death and survival and the molecular pathophysiology of ocular disease
(305) 547-3686 (ph)
Bascom Palmer Eye Institute
email 
Sandra K. Lemmon, Ph.D. Sandra K. Lemmon, Ph.D.
Professor of Molecular & Cellular Pharmacology and Director, MD/PhD Program.
Research Summary
Membrane Traffic: Sorting and regulation of protein transport in the endocytic and secretory pathways.
305-243-5758 (ph)
305-243-4555 (fax)
Rosenstiel Medical Sciences Building 6165
email 
Deborah C.  Mash, Ph.D. Deborah C. Mash, Ph.D.
Professor, Neurology
Research Summary
"Human Neuroanatomy, Addiction and Neurodegenerative diseases. Gene expression profiling and mapping in the human brain postmortem."
(305) 243-5888 (ph)
Parkinson Building - 3049
email 
Jacob L. McCauley, Ph.D. Jacob L. McCauley, Ph.D.
Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics
Research Summary
My research focuses on the use of molecular techniques, bioinformatics, and statistical methods to identify genetic variation and to characterize its role in disease susceptibility. I have been involved in studying a variety of neurological diseases including autism, Alzheimer disease, Parkinson disease, and multiple sclerosis.
(305) 243-4578 (ph)
(305) 243-2396 (fax)
Room 307, Biomedical Research Building
email 
Enrique A. Mesri, Ph.D. Enrique A. Mesri, Ph.D.
Associate Professor of Microbiology and Immunology
Research Summary
"Molecular, cellular and genetic mechanisms of viral carcinogenesis of Kaposi sarcoma. Activation of tumor angiogenesis and genetic instability by the Kaposi sarcoma herpesvirus/ KSHV."
305-243-5659 (ph)
305-243-8309 (fax)
Room 109 (office) Papanicolaou Building
email 
Carlos T. Moraes, Ph.D. Carlos T. Moraes, Ph.D.
Professor, Neurology and Cell Biology and Anatomy
Research Summary
Human Genetics; Molecular pathogenesis of disease-related mitochondrial DNA mutations
(305)243-5858 (ph)
(305)243-3914 (fax)
Lois Pope LIFE Center 3-17
email 
Amanda  Myers, Ph.D. Amanda Myers, Ph.D.
Assistant Professor, Psychiatry & Behavioral Sciences
Research Summary
function of non-coding DNA variation within the human cortex with specific focus on the pathogenomic processes underlying late onset Alzheimer's disease
(305) 243-3522 (ph)
Batchelor Children's Building - 609
email 
Richard S. Myers, Ph.D. Richard S. Myers, Ph.D.
Lecturer, Department of Biochemistry & Molecular Biology
Research Summary

Understand the mechanisms of steroid hormone receptor and coactivator action in normal and cancerous tissues.

(305) 243-2056 (ph)
(305) 243-3065 (fax)
email 
Margaret  Pericak-Vance, Ph.D. Margaret Pericak-Vance, Ph.D.
Professor, Dr. John T. Macdonald Foundation Department of Human Genetics and Director of the Center for Genetic Epidemiology & Statistical Genetics and Director of the Hussman Institute for Human Genomics.
Research Summary
Dr. Pericak-Vance excels at the integration of genomic and statistical technologies and their application to common and complex diseases of public health importance. Along with her research team, Dr. Pericak-Vance has identified risk genes for the amyotrophic lateral sclerosis, age-related macular degeneration, multiple sclerosis, autism, and Alzheimer disease.
305.243.5386 (ph)
305.243.2396 (fax)
Room 313, Biomedical Research Building
 
Alberto  Pugliese, M.D. Alberto Pugliese, M.D.
Research Associate Professor Medicine, Immunology & Microbiology
Research Summary
"Autoimmunity leading to type 1 diabetes and its recurrence after transplantation; immunogenetics of type 1 diabetes, genetic mechanisms of disease suscpetiblitly and resistance, thymic expression of self-antigen and tolerance, biomarkers of islet autoimmunity (autoantibodies, autoreactive T cells, microRNAs), some interest in pancreas/beta cell regeneration"
305-243-5348 (ph)
305-243-4404 (fax)
Room 5014, Diabetes Research Institute
email 
Rakesh  Singal, M.D. Rakesh Singal, M.D.
Associate Professor of Medicine/Hematology/Oncology
Research Summary
Dr. Singal’s research focuses on the epigenetic mechanisms that inactivate certain tumor-suppressor genes in prostate cancer and designing clinical trials based on lab research.
305-243-4909 (ph)
305-243-4905 (fax)
Sylvester Comprehensive Cancer Center
email 
Danuta  Szczesna-Cordary, Ph.D. Danuta Szczesna-Cordary, Ph.D.
Associate Professor of Molecular & Cellular Pharmacology
Research Summary
"My research is directed toward unraveling the mechanisms of Familial Hypertrophic Cardiomyopathy (FHC), an autosomal dominant disease originating from mutations in genes that encode for the major contractile proteins of the heart, including the ventricular myosin regulatory (RLC) and essential (ELC) light chains. Using a combination of molecular biological and physiological approaches we are trying to answer important questions regarding the molecular determinants of the myosin light chain mutations - mediated pathology in the heart."
305-243-2908 (ph)
305-243-4555 (fax)
Rosenstiel Medical Sciences Building 6113
email 
Jeffery M. Vance, M.D., Ph.D. Jeffery M. Vance, M.D., Ph.D.
Chairman, Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics
Research Summary
Dr. Vance's primary areas of expertise are in Neurogenetics, especially in Parkinson disease and Charcot-Marie-Tooth Disease, and also in cardiovascular genetics, human genotyping and banking of DNA samples, and the molecular aspects of the positional cloning of human disease. His research has focused on the application of clinical, molecular, and mathematical genetic techniques to identify genes leading to human disease.
305.243.5464 (ph)
Room 616, Biomedical Research Building
 
Gaofeng  Wang, Ph.D. Gaofeng Wang, Ph.D.
Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics
Research Summary
Molecular genetics of Parkinson disease and age-related macular degeneration.
(305) 243-6177 (ph)
(305) 243-2396 (fax)
Room 525, Biomedical Research Building
email 
Xiang-Xi (Mike)  Xu, Ph.D. Xiang-Xi (Mike) Xu, Ph.D.
Professor, Medicine
Research Summary
Ovarian cancer biology and early embryogenesis
305-243-1750 (ph)
Papanicolaou Research Building 417
email 
R. Grace  Zhai, Ph.D. R. Grace Zhai, Ph.D.
Assistant Professor, Molecular and Cellular Pharmacology
Research Summary
"Understanding the genetic and cellular basis of neural development, degeneration and protection using the fruit fly Drosophila melanogaster as a model system."
305-243-6316 (ph)
305-243-4555 (fax)
Rosenstiel Medical Science Building - 6069
email 
Yanbin  Zhang, Ph.D. Yanbin Zhang, Ph.D.
Assistant Professor, Biochemistry and Molecular Biology
Research Summary

DNA repair and mutagenesis, Fanconi anemia pathway of DNA repair.

(305) 243-9237 (ph)
email 
Stephan   Zuchner, M.D. Stephan Zuchner, M.D.
Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics and Director, Center for Human Molecular Genomics, Hussman Institute for Human Genomics
Research Summary
"I am at identifying and characterizing the function of genomic variation that is involved in human disease phenotypes, specifically for neurodegenerative and psychiatric disorders."
305-243-6177 (ph)
305-243-2396 (fax)
Room 523, Biomedical Research Building
email 
 
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