Universtiy of Miami Miller School of Medicine Graduate and Postdoctoral Programs

Faculty Profiles: HGG

Human Genetics and Genomics


Nagi Ayad, PhD

Nagi Ayad, PhD

Associate Professor, Psychiatry & Behavioral Sciences
NAyad@med.miami.edu

Our research focuses on cell cycle transitions in the developing nervous system. Our multi-disciplinary approach utilizes whole genome siRNA, cDNA, and small molecule cell-based screens. The latter target kinases, ubiquitin ligases, and epigenetic modulators to design therapies for cancer and neurological diseases.


Gary Beecham, PhD

Gary Beecham, PhD

Assistant Professor, Human Genetics
Director, Research Informatics, CGESG, Hussman Institute
gbeecham@med.miami.edu

Dr. Beecham is a statistical geneticist who develops models and methods for the analysis and interpretation of genetic data. This type of very complex work allows for the study of the distribution of genetic disease across different population groups, and is currently involved in studies of Alzheimer disease and Charcot-Marie-Tooth disease. His specific interests include imputation methods, copy number analysis, and multiple testing problems.



Susan Blanton, PhD

Susan Blanton, PhD

Associate Director, Communications and Compliance
Associate Professor, Human Genetics
Associate Professor, Neurology
Executive Director, Hussman Institute for Human Genomics
sblanton@med.miami.edu

Dr. Blanton has been involved in research focused on the mapping of genes for Mendelian and complex diseases, and studies the genetics of a variety of disorders and conditions that include deafness, retinal disorders, skeletal dysplasias, stroke and its risk factors, cleft lip/palate, and clubfoot.  In addition, she has a long standing interest in ethics and public policy regarding genetic testing.


Holly Cukier, PhD

Holly Cukier, PhD

hcukier@med.miami.edu
Dr. Cukier studies the genetics underlying Alzheimer’s disease and autism spectrum disorders. Dr. Cukier generates patient-specific induced pluripotent stem cell (iPSC) lines to investigate potential mechanisms of disease pathogenesis and identify resulting cellular and transcriptional phenotypes.


Gennaro D'Urso, PhD

Gennaro D’Urso, PhD

Assistant Professor, Microbiology and Cellular Pharmacology
gdurso@med.miami.edu

Dr. D’Urso’s research interests include: cell cycle control of DNA replication, cell cycle checkpoints, and cell cycle control in stem and progenitor cells.


Derek Dykxhoorn, PhD

Derek Dykxhoorn, PhD

Associate Professor, Human Genetics
Associate Professor, Microbiology and Immunology
Co-Director, Center for Molecular Genetics, Hussman Institute
ddykxhoorn@med.miami.edu

Dr. Dykxhoorn is a molecular biologist interested in the mechanisms that regulate pathogenesis. His current research focuses on the impact that genetic and epigenetic variations have on the transmission, infection and replication of HIV-1. In particular, his research has focused on the application of functional genomic approaches (RNA interference) to understand disease processes, including the use of large-scale, full genome screening platforms for the identification of host factors, HIV-dependency factors (HDFs), required for HIV infection and replication and the development of novel siRNA delivery approaches that can be used for therapeutic intervention for HIV infected individuals or formulated into a microbicide to prevent viral transmission across mucosal surfaces.


Mohammad Faghihi, MD, PhD

Mohammad Faghihi, MD, PhD

Assistant Professor, Psychiatry & Behavioral Sciences
mfaghihi@med.miami.edu

We study non-protein-coding RNAs and their involvement in neurological and neuropsychological disorders such as: Alzheimer’s disease, Parkinson’s disease, Multiple Sclerosis, and Fragile X Syndrome.


Maria Figueroa, M.D.

Maria Figueroa, M.D.

Associate Professor, Human Genetics
mef162@miami.edu


The Figueroa lab studies the role of epigenetic modifications in transcriptional regulation during normal and malignant hemopoiesis. Our focus is mainly on how changes in normal epigenetic patterns occur during malignant transformation and how these changes may contribute to the leukemogenic process. We use a combination of computational approaches based on genome-wide next generation sequencing data as well as in vitro and in vivo modeling to determine the consequences of the epigenetic lesions that we have identified.


John Gilbert, PhD

John Gilbert, PhD

Director, Center for Genome Technology, Hussman Institute
Professor, Human Genetics
jgilbert@med.miami.edu

Dr. Gilbert is a molecular biologist and an expert in sequencing and gene expression, gene analysis and characterization, positional cloning, mutation analysis, and animal models of human disorders. Gilbert’s research focuses on applications of genome technology to human genetics and the molecular genetics of autism, Alzheimer disease, Essential Tremor, Neural Tube Defects, and infectious disease.


Anthony Griswold, PhD

Anthony Griswold, PhD

Research Assistant Professor,  Department of Pathology, Member, John P. Hussman Institute for Human Genomics
agriswold@med.miami.edu

Dr. Griswold is a molecular geneticist with training in bioinformatics. He is interested in the application of high throughput genomic technologies to unraveling the genetics of complex disease.  He currently performs research in a variety of areas including autism spectrum disorder, cancer, and Alzheimer’s disease.


Abigail Hackam, PhD

Abigail Hackam, PhD

Associate Professor, Ophthalmology
ahackam@med.miami.edu

We study the cellular mechanism of photoreceptor degeneration, the role of inflammation in photoreceptor survival signaling and neuronal-glial interactions and ocular tumor stem cells.


Joshua M. Hare, M.D.

Joshua M. Hare, M.D.

Associate Professor, Ophthalmology
jhare@miami.edu

We study the cellular mechanism of photoreceptor degeneration, the role of inflammation in photoreceptor survival signaling and neuronal-glial interactions and ocular tumor stem cells.


Jennifer Hu, PhD

Jennifer Hu, PhD

Associate Director, Division of Cancer Prevention and Control
Professor, Biochemistry and Molecular Biology; Public Health
jhu@med.miami.edu

As a trans-disciplinary cancer researcher, Dr. Hu has training in basic sciences and cancer epidemiology. Her research mainly focuses on the molecular and genetic mechanisms of breast cancer etiology and survival disparities as well as implication of DNA repair in precision medicine.


Sandra Lemmon, PhD

Sandra Lemmon, PhD

Professor, Molecular & Cellular Pharmacology
Director, MD/PhD Program
slemmon@med.miami.edu

Membrane Transport: Sorting and regulation of protein traffic in the endocytic and secretory pathways and during Autophagy


Xue Zhong Liu, MD, PhD, FACS

Xue Zhong Liu, MD, PhD, FACS

Director of Center for Communication Sciences & Disorders
Director of Miami Otogenetic Program
Leonard M. Miller Professor, Otolaryngology
Leonard M. Miller Professor, Human Genetics
Leonard M. Miller Professor, Biochemistry
Leonard M. Miller Professor, Pediatrics
Vice Chairman of Research
x.liu1@med.miami.edu

Research interests include genomics application in auditory diseases, novel disease gene targets and treatment in hearing loss, genetic basis and intervention of age-related hearing loss (presbycusis), otitis media, pathophysiology and therapy.


Eden Martin, PhD

Eden Martin, PhD

Director, Genetic Epidemiology and Statistical Genetics,
John P. Hussman Institute for Human Genomics
Professor, Public Health Sciences, Human Genetics
emartin1@med.miami.edu

Dr. Martin is a statistical geneticist whose interest is in mapping genes for complex diseases like Alzheimer disease, Parkinson disease, and autism. Specifically, her research has focused on developing extensions of a transmission/disequilibrium test (TDT) for linkage and association studies in nuclear families, such as the Pedigree Disequilibrium Test (PDT) for analysis of linkage disequilibrium in general pedigrees, and the APL test for haplotype analysis. She has also developed a suite of analysis programs for the X chromosome and developed methods for testing gene-gene interaction.


Jacob McCauley, PhD

Jacob McCauley, PhD

Director, Biorepository Core Facility, Hussman Institute
Associate Director, Genome Technology, Hussman Institute
Associate Professor, Human Genetics, Pathology
jmccauley@med.miami.edu

Dr. McCauley is a genetic epidemiologist whose primary interest is to improve the understanding of human disease through disease gene discovery, genomics, and in-depth examination of environmental factors that influence disease outcome. His research focuses on the use of molecular techniques, bioinformatics, and statistical methods to identify genetic variation and to characterize its role in disease susceptibility and outcomes within a variety of human diseases.


Kevin McCracken, PhD

Kevin McCracken, PhD

Kushlan Chair Waterbird Biology & Conservation
Associate Professor, Biology, College of Arts & Sciences
Marine Biology & Ecology, RSMAS
John P. Hussman Institute for Human Genomics
kmccrack@bio.miami.edu
kevin.g.mccracken@gmail.com

My research interests are in evolutionary genetics and physiology of hypoxia resistance. Methods from a variety of different disciplines including population genomics, physiology, and protein chemistry are being used to address questions about the process of adaptation and phenotypic plasticity, at both the molecular level and in whole organisms. Populations inhabiting high-altitude regions such as the Andes and Himalayas, including humans, are of particular interest, as are birds.


Carlos Moraes, PhD

Carlos Moraes, PhD

Professor, Neurology
cmoraes@med.miami.edu

Our lab studies the molecular basis of mitochondrial defects in metabolic and neurodegenerative diseases and in normal aging, using genetically-modified mouse models. Three major funded projects are: 1) Development of genetic therapies for mitochondrial diseases. 2) Development of animal models to study the pathogenesis of mitochondrial disorders. 3) Compensating for a defect in oxidative phosphorylation by increasing mitochondrial biogenesis.


Lluis Morey, PhD

Lluis Morey, PhD

Research Assistant Professor, John T. Macdonald Foundation Department of Human Genetics
lmorey@med.miami.edu

Dr. Morey has made a number of important contributions in identifying and characterizing essential regulators involved in stem cell identity, differentiation and cancer progression. His laboratory is interested in dissecting the molecular and biological functions of epigenetics machineries, with a special focus on Polycomb group proteins, in cancer and stem cells. Dr. Morey’s laboratory main projects include: 1. Identification and characterization of cancer driving mutations in epigenetic regulators. 2. Identification and characterization of novel non-histone methyltransferases substrates. 3. Role of epigenetic factors associated with tumor initiation, cancer progression and metastasis. 4. Cell fate modulation imposed by specific epigenetic factors.


Amanda Myers, PhD

Amanda Myers, PhD

Associate Professor, Psychiatry & Behavioral Sciences
amyers@med.miami.edu

Our research centers on the function of non-coding DNA variation within the human cortex with specific focus on the pathogenomic processes underlying late onset of Alzheimer.


Mitsunori Ogihara, PhD

Mitsunori Ogihara, PhD

Professor, Computer Science
Professor, Electrical and Computer Engineering
Director of Data Mining, Center for Computational Sciences
Associate Dean, Digital Library Innovation
m.orihara@miami.edu


Margaret Pericak-Vance, PhD

Margaret Pericak-Vance, PhD

Director, John P. Hussman Institute for Human Genomics
Dr. John T. Macdonald Foundation Professor of Human Genetics
Professor, Neurology
mpericak@med.miami.edu

Dr. Pericak-Vance is a global leader in the genetics of common diseases. She excels at the integration of genomic and statistical technologies and their application to diseases of public health importance in general, and to neurologic diseases in particular. She has a particular interest in neurogenetic diseases such as Alzheimer disease, amyotrophic lateral sclerosis and multiple sclerosis, and has several active studies in neurodevelopmental disorders, such as autism and Asperger disorder. Her research also is breaking ground in the genetics of eye diseases such as age-related macular degeneration, glaucoma and retinitis pigmentosa.


Stephan Schürer, PhD

Stephan Schürer, PhD

Associate Professor, Molecular and Cellular Pharmacology
SSchuerer@med.miami.edu

We work on large-scale integration and modeling of small molecule-protein interaction, systems biology ‘omics’, and chemistry data with the goal to improve translation of disease models into novel functional small molecules.  We apply distributed and parallelized bio- and chemoinformatics tools and build modeling pipelines to understand drug mechanism of action, ‑promiscuity and ‑polypharmacology with a particular focus on kinases and epigenetic bromodomain reader proteins.  In several focused as well as larger-scale projects, we develop formal ontologies (e.g. BioAssay Ontology, Drug Target Ontology), data standards, and end-user multi-tier software applications.


William Scott, PhD

William Scott, PhD

Professor, Human Genetics
Professor, Public Heath Sciences
Vice Chair for Education Training, Human Genetics
w.scott@med.miami.edu

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.  Currently funded projects include genetic studies of tuberculosis and bacterial sepsis, and gene-environment interaction in age-related macular degeneration and Parkinson disease.


Ramin Shiekhattar, PhD

Ramin Shiekhattar, PhD

Academic Director, Oncogenomic Core Facility
Chief, Division of Cancer Genomics and Epigenetics
Director, Cancer Epigenetics Research Program
Professor, Biochemistry & Molecular Biology
rshiekhattar@med.miami.edu

My laboratory has made a number of important contributions over the past several years in identifying and characterizing critical mediators of epigenome. These include a number of chromatin remodeling (human NURF, CERF, WCRF/ACF) and chromatin modifying UTX/MLL3/4, JARID1d, LSD1-CoREST complexes. Importantly, the emerging roles for non-coding RNAs in epigenetic regulation and their crosstalk with chromatin regulatory complexes persuaded us to characterize the key players in the biogenesis and effector function of non-coding RNAs.


Mustafa Tekin, MD

Mustafa Tekin, MD

Clinical Vice Chair, Human Genetics
Director, Division of Clinical and Translational Genetics
Professor, Human Genetics
mtekin@med.miami.edu

Dr. Tekin is a board certified clinical and molecular geneticist and expert on phenotypic and genotypic characterization of a variety of Mendelian disorders. His laboratory has discovered numerous genes to cause human diseases when disrupted by mutations.


Marjana Tomic-Canic, PhD

Marjana Tomic-Canic, PhD

Professor
mtcanic@med.miami.edu

The overall goal of our translational, multi-disciplinary program in wound healing is to understand the molecular and cellular mechanisms of tissue repair and regeneration in skin and its pathogenesis, by integrating knowledge at the bench with clinical outcomes at the bedside. Our mission is to develop novel approaches to reduce incidence and accelerate wound healing of chronic wounds. This includes identifying which molecular and cellular mechanisms are utilized during normal, acute wound healing process, identifying what molecular events lead to inhibition of wound healing in chronic (non-healing) wounds and further, developing local sustained gene delivery mechanisms for their treatment.


Nicholas Tsinoremas, PhD

Nicholas Tsinoremas, PhD

Director, Center for Computational Science
Professor, Medicine, Computer Sciencer, Health Informatics
ntsinoremas@med.miami.edu

Interests are in big data and network approaches that utilize clinical and basic science  data (genomics, high throughput screening, etc.) to accelerate development of novel therapeutics.


Jeffery Vance, MD, PhD

Jeffery Vance, MD, PhD

Director, Genomic Education & Outreach, Hussman Institute
Professor and Founding Chair, Human Genetics
Professor, Neurology
jvance@med.miami.edu

Our primary areas of expertize lie in the neurogenetics (especially in Parkinson’s disease and Charcot-Marie-Tooth Disease), cardiovascular genetics, human genotyping and banking of DNA samples, and the molecular aspects of the positional cloning of human disease. My research has focused in the application of clinical, molecular, and mathematical genetic techniques to identify genes leading to human disease.


Claes Wahlestedt, MD, PhD

Claes Wahlestedt, MD, PhD

Associate Dean, Therapeutic Innovation
Director, Center for Therapeutic Innovation
Professor, Psychiatry and Behavioral Sciences
cwahlestedt@med.miami.edu

We study the role of the noncoding RNAs in schizophrenia, the role of microRNA in the mechanisms of drug dependency, regulatory RNA’s as mediators and biomarkers in Alzheimer’s Disease, the discovery and development of nociception receptor ligands in alcohol dependence, noncoding RNAsepigenomic modulators in Alzheimer’s Disease, the discovery of a potent and selective neuropeptide YY2 receptor antagonist probes, and comprehensive analysis of FRM1 locus transcriptional landscape.


Katherina Walz, PhD

Katherina Walz, PhD

Director, Human Disease Modeling, Hussman Institute
Research Assistant Professor, Human Genetics
Research Assistant Professor, Medicine
kwalz@med.miami.edu

We are interested in the understanding of molecular bases of human genetic conditions affecting behavior utilizing mouse models. Our research is focused in the validation of the genetic cause, the definition of the phenotypic outcomes and the elucidation of the molecular and physiological pathways related to human diseases. Our work is mainly focused on Mendelian syndromes.


Gaofeng Wang, PhD

Gaofeng Wang, PhD

Associate Professor, Human Genetics, Ophthalmology
Director, Functional Genomics, Center for Molecular Genetics, John P. Hussman Institute for Human Genomics
gwang@med.miami.edu

Dr. Wang is a molecular geneticist. His research focuses on redox genomics, a new research field that is developed in the Wang lab. Currently, his research projects include the epigenomic regulation of ascorbate in diabetic peripheral neuropathy and diabetic dementia.


Lily Wang, PhD

Lily Wang, PhD

Associate Professor, Human Genetics
lily.wang@med.miami.edu

My research interest is to develop effective statistical models for the analysis of high throughput genomics datasets. My recent work includes development of mixed effects models for pathway-based analysis of gene expression datasets and genome-wide association studies.


Liyong Wang, PhD

Liyong Wang, PhD

Research Assistant Professor, Human Genetics
lwang1@med.miami.edu

Dr. Wang is a molecular biologist with extensive training in mapping susceptibility genes for complex diseases. Her research has focused on using genomic and epigenomic approaches to discover novel susceptibility genes and pathways for coronary artery disease, stroke and Parkinson disease. She has research experience in high-throughput genotyping, genome mapping, next generation sequencing, DNA methylation profiling, transcriptional regulation of gene expression, and characterization of gene structure and function.


Juan Young, PhD

Juan Young, PhD

Assistant Professor, Human Genetics
Co-Director, Center for Molecular Genetics, Hussman Institute
jyoung3@med.miami.edu

We focus on epigenetic mechanisms regulating CNS function; mouse models of neurological diseases.


R. Grace Zhai, PhD

R. Grace Zhai, PhD

Associate Professor, Molecular and Cellular Pharmacology
gzhai@med.miami.edu

Research in my lab focuses on the genetic and cellular basis of neural development, degeneration and protection using the fruit fly Drosophila melanogaster as a model system. We identify and characterize conserved gene functions and phenotypes highly relevant to human neurological diseases.


Stephan Züchner, MD, PhD

Stephan Züchner, MD, PhD

Chair and Professor, Human Genetics
Professor, Neurology
szuchner@med.miami.edu

Next-generation sequencing has transformed the genetics field. We use clinical, bioinformatics, and molecular approaches to study the outcome of large scale exome and whole genome sequencing projects in pursuit of identifying and understanding the function of novel disease genes for neuromuscular and neurodegenerative disorders.