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

Human Genetics
Faculty MemberContact
Nagi  Ayad, PhD Nagi Ayad, PhD
Associate Professor of Psychiatry & Behavioral Sciences
Research Summary
Ubiquitin, cell biology, neurobiology, cerebellum, neurite outgrowth, drug discovery
305-243-7695 (ph)
BRB 413
email 
Nagi  Ayad, Ph.D. Nagi Ayad, Ph.D.
Associate Professor, Department of Psychiatry and Behaviorial Sciences
Research Summary
Dr. Ayad's research focuses on the biochemical regulation of genes involved in cell cycle transitions in the developing nervous system.
 
 
305-243-7695 (ph)
413 Biomedical Research Building
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
 
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
I 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 
Olaf  Bodamer, M.D., Ph.D. Olaf Bodamer, M.D., Ph.D.
Professor of Human Genetics, Biochemistry and Molecular Biology, Clinical Vice Chair of Human Genetics, Chief of the Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics
Research Summary
Dr. Bodamer's interests include lysosomal storage disorders, newborn screening and genetics of prematurity.
 
305-243-6056 (ph)
305-243-3919 (fax)
Biomedical Research Building
email 
Zhibin  Chen, M.D., Ph.D. Zhibin Chen, M.D., Ph.D.
Associate Professor of Microbiology and Immunology
Research Summary

Our lab is oriented to discovery-based research on mechanisms of immune tolerance in diabetes and cancer, as well as molecular signals that trigger tissue regeneration at the site of inflammatory destruction.  With advanced molecular biology tools, we strive to bridge genomic and genetic advances to immunobiology and immunotherapies in autoimmune disorders, transplantation and cancer.


305-243-8348 (ph)
305-243-4623 (fax)
Room 3035 (office), 3039A (lab) Rosenstiel Medical Sciences Building
email 
Julia  Dallman, Ph.D. Julia Dallman, Ph.D.
Assistant Professor, Biology
Research Summary
My research focuses on understanding the genetic basis of swimming by studying a set of zebrafish mutants recently isolated in the lab. Zebrafish exhibit many similarities to humans in the genes and circuits that underlie movement. Therefore, zebrafish motility mutants provide useful models for human genetic disaeses that impact nerve and muscle function.The lab also studies mutants for which the culprit gene has been identified (glial glycine transporter or GlyT1), to better understand homeostatic mechanisms triggered in response to mutation.
 
(305) 284-3954 (ph)
232 Cox Science Center
email 
Derek  Dykxhoorn, Ph.D. Derek Dykxhoorn, Ph.D.
Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics
Research Summary
Dr. Dykxhoorn is a molecular biologist interested in the role that small regulatory RNA molecules, microRNAs and small interfering RNAs, play in the pathogenesis of various diseases.
 
305-243-7956 (ph)
Room 509, Biomedical Research Building
email 
Mohammad  Faghihi, M.D., Ph.D. Mohammad Faghihi, M.D., Ph.D.
Assistant Professor of Psychiatry & Behavioral Sciences, Neuroscience Program Affiliated Faculty Member, Full Member of Center on Aging, Member of Hussman Institute for Human Genomics, Founding Member of Center for Therapeutic Innovations
Research Summary
The main focus of my lab is the study of regulatory long noncoding RNAs and their involvement in neurological and neuropsychological disorders such as:

Alzheimer’s disease, Parkinson’s disease
Multiple Sclerosis
Fragile X Syndrome, Autism

We are interested in understanding the mechanisms of long noncoding RNA function in the context of gene expression regulation, chromatin modifications and epigenetics.

We are interested in epigenetics, DNA methylation, chromatin modifications and induction of these changes by noncoding RNAs
We also study interactions between RNA molecules and proteins to probe their functions.

The overall goal of the lab is to identify disease-specific long noncoding RNAs that can be used as:

1- Biomarkers (Identifying RNA biomarkers for early diagnosis)

2- Novel therapeutic targets (Identifying noncoding pathologic agents to find novel therapeutic targets)
 
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305-243-7953 (ph)
305-243-2769 (fax)
Biomedical Research Building
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 
Feng  Gong, Ph.D. Feng Gong, Ph.D.
Associate Professor, Department of Biochemistry & Molecular Biology
Research Summary
To understand the mechanisms of chromatin dynamics during DNA repair.
 
(305) 243-9270 (ph)
(305) 243-3955 (fax)
Gautier Room 303
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
Research Summary

Dr. Hu's research interests include molecular and genetic epidemiology studies of DNA-repair genotypes and phenotypes in human cancer risk, progression, treatment outcome and prevention. Her current research focuses on genome-wide scan, data mining and predictive model development for gene-gene and gene-environment interactions in human cancer risk and survivorship.

 
305-243-3356 (ph)
305-243-2997 (fax)
Clinical Research Building, Room 1511
email 
George  Inana, M.D., Ph.D. George Inana, M.D., Ph.D.
Professor, Ophthalmology and Physiology & Biophysics
Research Summary
Our research centers around the elucidation of mechanisms of genetic retinal diseases that lead to blindness through the identification of the causative genes, construction and use of animal models to elucidate the pathophysiological mechanisms by which specific gene mutations lead to retinal degeneration, and therapeutic manipulation of the animal models with the ultimate goal of developing effective therapies.
 
305-326-6509 (ph)
305-326-6509 (fax)
620 McKnight Vision Research Center, Bascom Palmer Eye Institute
email 
Mary Lou  King, Ph.D. Mary Lou King, Ph.D.
Professor, Departments of Cell Biology, Biochemistry & Molecular Biology, and Molecular & Cellular Pharmacology
Research Summary
Germline Determination in the Xenopus Embryo
Identification of proteins and RNAs in the germ plasm
(305)243-2457 (ph)
(305)243-1053 (fax)
RMSB 4120 A
email 
Richard  Lee, M.D., Ph.D. Richard Lee, M.D., Ph.D.
Associate Professor, Ophthalmology and Cell Biology
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 
Xue Zhong   Liu, M.D. Xue Zhong Liu, M.D.
Associate Professor, Otolaryngology/Human Genetics and Pediatrics Director of Molecular Genetic Laboratory
Research Summary
Molecular, clinical and treatment of genetic hearing loss and age onset of hearing loss.
 
305-243-3564 (ph)
305-243-2009 (fax)
Clinical Research Building 5th floor
email 
Eden R. Martin, Ph.D. Eden R. Martin, Ph.D.
Professor, Dr. John T. Macdonald Foundation Department of Human Genetics and Director of the Center for Genetic Epidemiology & Statistical Genetics, Hussman Institute for Human Genomics
Research Summary
Dr. Martin's research interests include mapping genes in complex diseases (Alzheimers, Parkinsons, autism), statistical methods, DNA sequence data, genetics of Latin American populations. 
305-243-5391 (ph)
305-243-2396 (fax)
Room 305, Biomedical Research Building
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 
Carlos T. Moraes, Ph.D. Carlos T. Moraes, Ph.D.
Professor, Neurology and Cell Biology
Research Summary
Human Genetics; Molecular pathogenesis of disease-related mitochondrial DNA mutations
 
(305)243-5858 (ph)
(305)243-3914 (fax)
230 Two Story Lab
email 
Amanda  Myers, Ph.D. Amanda Myers, Ph.D.
Assistant Professor, Department of Psychiatry & Behavioral Sciences, Division of Neuroscience, Department of Human Genetics and Genomics
Research Summary
Dr. Myers’s research focuses on the function of non-coding DNA variation within the human cortex with specific focus on the pathogenomic processes underlying late onset of Alzheimer.
 
(305) 243-3522 (ph)
Batchelor Children's Building - 609
email 
Mitsunori  Ogihara, Ph.D. Mitsunori Ogihara, Ph.D.
Professor of Computer Science and of Electrical and Computer Engineering, Director of Data Mining, Center for Computational Science
Research Summary
Dr. Ogihara conducts research in data mining and its applications, in particular, biological and music data.
305-243-4962 (ph)
Clinical Research Building, Center for Computational Science (CCS)
email 
Margaret  Pericak-Vance, Ph.D. Margaret Pericak-Vance, Ph.D.
Dr. John T. Macdonald Foundation Professor of Human Genomics and Director, John P. 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
 
Evadnie  Rampersaud, Ph.D. Evadnie Rampersaud, Ph.D.
Research Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Division Director, Division of Genetic Epidemiology in the Center for Genetic Epidemiology and Statistical Genetics, John P. Hussman Institute for Human Genomics
Research Summary
Dr. Rampersaud's research interests focus on applying statistical methods to identify both genetic and environmental factors that influence risk to obesity, early developmental birth defects including Neural Tube Defects, and preterm birth. She is particularly interested in understanding the genetics of diseases that disproportionately affect women's health and in studying the role that maternal effects, genetic imprinting and maternal-fetal interactions play in causation of these disorders.
 
305-243-5391 (ph)
Room 318, Biomedical Research Building
email 
Ralph L. Sacco, M.D., M.S., F.A.H.A., F.A.A.N. Ralph L. Sacco, M.D., M.S., F.A.H.A., F.A.A.N.
Olemberg Family Chair in Neurological Diseases, Miller Professor of Neurology, Epidemiology & Human Genetics, Chair, Dept. of Neurology
Research Summary
305-243-3876 (ph)
305-243-4678 (fax)
Clinical Research Building, Room 1352
email 
William K Scott, Ph.D. William K Scott, Ph.D.
Professor, Vice Chair for Education and Training
Research Summary
Dr. Scott is a genetic epidemiologist interested in the influence of genetic and environmental factors on susceptibility to infectious diseases and complex traits associated with aging.  His research includes candidate gene studies in tuberculosis and sepsis, studies of gene-environment interaction in age-related macular degeneration and Parkinson disease, and genomic studies of longevity and successful aging in the Amish communities of Indiana and Ohio.
 
305-243-2371 (ph)
305-243-2523 (fax)
Room 414 Biomedical Research Building
 
Jose P. Silva, MD, Ph.D. Jose P. Silva, MD, Ph.D.
Research Assistant Professor
Research Summary
Dr. Silva is interested in studying the central and peripheral mechanisms that control energy and glucose balance, the role of non-protein coding RNAs in metabolic gene regulation and strategies to target non-protein coding RNAs as drug therapies for obesity, diabetes and cardiovascular disease.
 
305-243-1209 (ph)
305-243-2396 (fax)
Room 433, Biomedical Research Building
email 
Mustafa  Tekin, M.D. Mustafa Tekin, M.D.
Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genetics
Research Summary
Dr. Tekin's main area of interest in research is the genetics of hearing loss including nonsyndromic deafness as well as a broad variety of special genetic conditions associated with hearing loss such as Usher, Pendred, and branchio-oto-renal syndromes and auditory neuropathy.
 
305-243-2381 (ph)
305-243-2396 (fax)
Room 610, Biomedical Research Building
email 
Nicholas   Tsinoremas , Ph.D. Nicholas Tsinoremas , Ph.D.
Director, Center for Computational Science and Professor of Medicine, Computer Science, and Health Informatics
Research Summary
My research interests are in computational genomics, cheminformatics, and bioinformatics.
 
305-243-4962 (ph)
Room 610, Clinical Research Building
email 
Jeffery M. Vance, M.D., Ph.D. Jeffery M. Vance, M.D., Ph.D.
Professor of Neurology, Dr. John T. Macdonald Foundation Department of Human Genetics, John P. 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.
 
305-243-2283 (ph)
Room 616, Biomedical Research Building
email 
Ramiro E. Verdun
Assistant Professor of Medicine
Research Summary
The goal of this laboratory is to increase our knowledge in the molecular mechanisms used by normal and cancer cells to keep the integrity of their telomeres and genomic DNA. Maintenance of genome stability depends on appropriate responses to DNA damage. This involves the mobilization of DNA damage factors to the site of damage and the activation of checkpoint pathways that consequently delay cell cycle progression. Lack of these controls results in an accumulation of chromosomes aberrations, genome instability and finally transformation. The natural ends of the linear chromosomes, the telomeres, represent a problem in the control of genome stability.
305-243-3438 (ph)
1600 NW 10th Avenue RMSB 7114A (D503)
 
Claes  R.  Wahlestedt, M.D, Ph.D. Claes R. Wahlestedt, M.D, Ph.D.
Director, Genomic Interdisciplinary Therapeutic Innovation Center (G-ITIC)
Research Summary
Dr. Wahlestedt's research interests focus on novel drug therapies for neuropsychiatric disorders and epigenetics.
 
305-243-7694 (ph)
305-243-2396 (fax)
Room 407, Biomedical Research Building
email 
Katherina  Walz, Ph.D. Katherina Walz, Ph.D.
Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics, Neuroscience Program Affiliated Faculty Member
Research Summary
Dr. Walz's research focuses on understanding the molecular bases of human genetic conditions affecting behavior utilizing mouse models.
 
305-243-1116 (ph)
305-243-2523 (fax)
Room 418, Biomedical Research Building
email 
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
Dr. Wang's research focuses on the molecular genetics of Parkinson disease and age-related macular degeneration.
 
(305) 243-6177 (ph)
(305) 243-2396 (fax)
Room 525, Biomedical Research Building
email 
Juan  Young, Ph.D. Juan Young, Ph.D.
Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Hussman Institute for Human Genomics, Neuroscience Program Affiliated Faculty Member
Research Summary
Dr. Young's research interests include epigenetic mechanisms regulating CNS function; mouse models of neurological diseases.
 
305-243-1027 (ph)
305-243-2523 (fax)
Room 524, Biomedical Research Building
email 
Stephan   Züchner, M.D. Stephan Züchner, M.D.
Interim Chair and 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
Dr. Züchner is 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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