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Primary Faculty

John P. Hussman Institute for Human Genomics
Margaret Pericak Vance Ph.D.

Margaret Pericak-Vance, Ph.D

Director, John P. Hussman Institute for Human Genomics
Dr. John T. Macdonald Foundation Professor of Human Genetics
Executive Vice Chair, Dr. John T. Macdonald Foundation Department of Human Genetics
Professor, Department of Neurology
EmailMPericak@med.miami.ed

Research area: Dr. Pericak-Vanceʹs research efforts are directed towards discovering the genetic causes of common disorders such as Alzheimer disease, as a pathway to new targets for drug discovery, treatment, and prevention. Her work also focuses on addressing health disparities in genomics research. She directs several related genetic research projects, one on Alzheimer disease in African Americans and a second on Caribbean Hispanic and Amerindian populations. She also has active research programs in the genetics of age-related macular degeneration and autism.

List of Publications

Mustafa Tekin, M.D.

Mustafa Tekin, M.D.

Co-Director, John P. Hussman Institute for Human Genomics
Interim Chair and Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Chief, Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics
Professor of Otolaryngology, Ophthalmology, Bascom Palmer Eye Institute
Email: mtekin@med.miami.edu

Research Area: Dr. Tekin`s research is focused on phenotypic, genotypic, and functional characterization of hereditary disorders with an emphasis on hereditary deafness. His ongoing studies supported by the NIH, foundations, and philanthropic efforts aim to understand the mechanisms of rare genetic conditions and develop intervention strategies. Among his contributions to medicine are discoveries of novel genetic syndromes and more than two dozen novel genes causing rare human disorders.

List of Publications

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Gary Beecham, Ph.D.

Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Director, Division of Research Informatics in the Center for Genetic Epidemiology and Statistical Genetics, John P. Hussman Institute for Human Genomics
Email: gbeecham@med.miami.edu

Research Area: Dr. Beecham focuses on bioinformatics and the statistical analysis of large-scale genetic data. He is currently doing research that involves the study of non-Mendelian forms of early-onset Alzheimer disease, neuropathological lesions influencing dementia, and genetics of Alzheimer Disease in underserved populations, such as African American, Puerto Rican, Cuban, Peruvian, and others.

List of Publications

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Susan Halloran Blanton, Ph.D.

Professor, Dr. John T. Macdonald Foundation Department of Human Genetics and Department of Otolaryngology
Associate Director, Collaborations and Compliance, John P. Hussman Institute for Human Genomics
Director, Graduate Program in Human Genetics and Genomics and Master of Science in Genomic Medicine, Dr. John T. Macdonald Foundation Department of Human Genetics
Email: SBlanton@med.miami.edu

Research Area: Dr. Blanton’s primary research has focused on the mapping of genes for Mendelian and complex diseases; she has been instrumental in studies identifying over twenty genes/loci for Mendelian disorders. Stroke and the underlying genetics of its risk factors, age-related macular degeneration, Alzheimer Disease, hearing loss, retinal diseases, skeletal dysplasia’s, cleft lip/palate, and clubfoot are among the diseases which she currently studies.

List of Publications

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Michael Cuccaro, Ph.D.

Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics and Department of Psychology & Behavioral Sciences
Associate Director, Center for Genomic Education & Outreach, John P. Hussman Institute for Human Genomics
Email: mcuccaro@med.miami.edu

Research Area: Dr. Cuccaro is a clinical psychologist who specializes in understanding the interplay between genetics and behavior across development. His work reflects this specialization with a focus on disorders of aging such as Alzheimer’s Disease and Related Disorders (ADRD). His research concentrates on the development of behavioral methods to construct and extend clinical phenotypes of individuals ADRD to optimize gene discovery. In addition, he is involved in studies of co-occurring conditions in ADRD that influence the onset and course of these disorders including neuropsychiatric disorders, vascular disease, and social determinants.

List of Publications

Holly N. Cukier, Ph.D.

Holly Cukier, Ph.D.

Research Assistant Professor, Department of Neurology
Member, John P. Hussman Institute for Human Genomics
Email: hcukier@med.miami.edu

Research Area: Dr. Cukier currently studies the genetics underlying Alzheimer’s disease and autism spectrum disorders. She studies families with these diseases, as well as examining minority populations for identifying potential genetic differences. Furthermore, she is engaged in generating patient specific induced pluripotent stem cell lines to study and model the course of disease pathogenesis.

List of Publications

Derek Dykxhoorn, PhD

Derek Dykxhoorn, Ph.D.

Research Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Director, Center for Molecular Genetics, John P. Hussman Institute for Human Genomics
Associate Professor, Microbiology and Immunology
Director, Induced Pluripotent Stem Cell Corer Facility, John P. Hussman Institute for Human Genomics
Email: DDykxhoorn@med.miami.edu

Research Area: Dr. Dyxhoorn’s current research focuses on understanding the impact that genetic and epigenetic variations have on the development of various disorders, such as, neurological disorders (autism spectrum disorder, epilepsy, Alzheimer’s disease, and sensorineural disorders), cardiovascular disease (Long Qt syndrome), and viral infections. These experiments combine a variety of molecular biological, genomic, and electrophysiological approaches to examine the underlying molecular mechanisms that drive disease pathogenesis.

List of Publications

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John Gilbert, Ph.D.

Professor Emeritus, Dr. John T. Macdonald Foundation Department of Human Genetics
Emeritus Member, John P. Hussman Institute for Human Genomics
Email: jgilbert@med.miami.edu

Anthony Griswold, PhD

Anthony Griswold, Ph.D.

Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Associate Director, Center for Genome Technology, John P. Hussman Institute for Human Genomics
Email: agriswold@med.miami.edu

Research Area: Dr. Griswold has training in both molecular genetics and a focus in computational bioinformatics specifically applied to running and developing analysis pipelines for massively parallel DNA sequencing analysis, RNA sequencing analysis, epigenomics, and comprehensive variant annotation and interpretation. His primary research interests are aiming to identify genetic risk for factors of complex phenotypes. He is involved in several projects focusing on the underlying genetics of complex diseases including autism spectrum disorder (ASD) and Alzheimer’s disease in projects ranging from copy number variation analysis and identification of rare sequencing variants. His current work focuses on using sequencing technologies and bioinformatics approaches to identify functional genomic signatures of disease phenotypes.

List of Publications

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R. Rodney Howell, M.D.

Professor Emeritus, Department of Pediatrics
Emeritus Member, John P. Hussman Institute for Human Genomics
Email: rhowell@med.miami.edu

Rosario Isasi, J.D., M.P.H.

Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Member, John P. Hussman Institute for Human Genomics
Email: RIsasi@miami.edu

Research Area: Rosario Isasi is a Research Associate Professor of Human Genetics in the Dr. John T. Macdonald Foundation Department of Human Genetics and holds multiple appointments, including at the John P. Hussman Institute for Human Genomics where she directs the Program in Genome Ethics and Policy, is a member of the Interdisciplinary Stem Cell Institute and Adjunct Professor of Law at UM School of Law. Prof. Isasi’s has built an international reputation as a scholar with unique expertise in international comparative law, ethics, and health disparities. Her research is devoted to identifying and analyzing the social, ethical and policy dimensions of disruptive technologies (e.g., precision, genomics, and regenerative medicine). In addition, her scholarly work also includes regulatory reform and educational programs, such as the development of national/international policy, of evidence-based professional and ethical guidelines as well as of research ethics curricula.

List of Publications

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Brian W. Kunkle, Ph.D., M.P.H.

Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Member, John P. Hussman Institute for Human Genomics
Email: bkunkle@med.miami.edu

Research Area: Dr. Kunkle has extensive experience analyzing clinical and genomic data in a multi-disciplinary environment. He is currently funded as a principal investigator on the multi-PI National Institutes on Aging (NIA) U19 “Recruitment and Retention for Alzheimer’s Disease Diversity Genetic Cohorts in the ADSP (READD-ADSP)”, the multi-PI NIA R01 “Integrative Genomic Approaches for Understanding Sex Differences in Alzheimer’s Disease” and the multi-PI NIA U01 “Additional Sequencing for the Alzheimer’s Disease Sequencing Project (ADSP).”

List of Publications

Eden Martin, PhD

Eden R. Martin, Ph.D.

Professor, Dr. John T. Macdonald Foundation Department of Human Genetics and Department of Public Health Sciences
Director, The Center for Genetic Epidemiology and Statistical Genetics, John P. Hussman Institute for Human Genomics
Email: emartin1@med.miami.edu

Research Area: Dr. Martin is a statistical geneticist with experience in bother theoretical methods development and applied research. Her major focus has been on statistical methods for mapping complex disease genes. Currently she has been working on understanding the genetics of Alzhiemer disease as a leader of the Alzheimer Disease Sequencing Project, and through her own projects focus has been on sex-specific effects and age of disease onset.

List of Publications

Jacob McCauley, PhD

Jacob L. McCauley, Ph.D

Professor, Dr. John T. Macdonald Foundation Department of Human Genetics and Department of Pathology
Director, Center for Genome Technology, John P. Hussman Institute for Human Genomics
Director, Biorepository Core Facility in the Center for Genome Technology, John P. Hussman Institute for Human Genomics
Email: jmccauley@med.miami.edu

Research Area: 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 within a variety of complex human diseases including multiple sclerosis, inflammatory bowel disease (IBD), stroke, and amyotrophic lateral sclerosis (ALS). In addition to leading his own NIH-funded research projects focused on the genetic aspects of both multiple sclerosis and inflammatory bowel disease within the US Hispanic population, Dr. McCauley contributes to a number of other large collaborative research efforts both nationally and internationally. 

List of Publications

Karen Nuytemans, PhD

Karen Nuytemans, Ph.D.

Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Member, John P. Hussman Institute for Human Genomics
Email: KNuytemans@med.miami.edu

Research Area: Dr. Nuytemans directs several genomic projects on PD in Hispanic populations and FTD across race/ethnicity and has published the first report on PD variants in Caribbean Hispanics. Additionally, Dr. Nuytemans drives the genomic analyses in the Thrombotic Storm project, aiming to better understand genomic susceptibility to this rare thrombotic disorder originally described by Drs. Vance, Pericak-Vance (HIHG) and Ortel (Duke).

List of Publications

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Farid Rajabli, Ph.D.

Research Assistant Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Member, John P. Hussman Institute for Human Genomics
William Scott, PhD

William K. Scott, Ph.D.

Professor, Dr. John T. Macdonald Foundation Department of Human Genetics, Department of Neurology, and Department of Public Health Sciences
Executive Director, UM Brain Endowment Bank
Member, John P. Hussman Institute for Human Genomics
Email: w.scott@med.miami.edu

Research Area: Dr. Scott’s research focuses on the identification of gene and environment interactions that influence the risk of complex diseases. He is one of three principal investigators of an effort to identify genetic factors that protect from the development of age-related cognitive impairment in Midwestern U.S. Amish communities and one of two principal investigators on a study of the association of variation in the HLA region on susceptibility to staphylococcal bacteremia. Other research projects examine genetic and genomic factors underlying age-related macular degeneration, primary open-angle glaucoma, post-traumatic stress disorder, and genetic susceptibility to tuberculosis.

List of Publications

Jeffery M. Vance, M.D., Ph.D.

Jeffery M. Vance, M.D., Ph.D.

Professor and Founding Chair (2008-2013), Dr. John T. Macdonald Foundation Department of Human Genetics
Director, Center for Genomic Education & Outreach, John P. Hussman Institute for Human Genomics
Professor, Department of Neurology
Email: JVance@med.miami.edu

Research Area: Dr. Vance’s research has focused on the application of clinical, molecular, and mathematical genetic techniques to identify genes leading to human disease. He has collaborated on research in many different clinical specialties, but primary focus is on neurodegenerative disorders (Parkinson and Alzheimer disease) and Charcot-Marie-Tooth disease, as well as Autism. His current laboratory research focuses on identifying the protective variant(s) that lowers the risk for Alzheimer disease (AD) in African American ApoE4 carriers relative to European and Asian carriers of the ApoE4 allele.

List of Publications

Katherina Walz, PhD

Katherina Walz, Ph.D.

Research Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Member, John P. Hussman Institute for Human Genomics
Email: kwalz@med.miami.edu

Research Area: Dr. Walz research has focused on understanding the relationship between genetic and phenotypic variation. Her and her team utilize cellular and mouse models as genetic tools to validate the genetic cause, define the phenotypic outcomes and elucidate the molecular and physiological pathways related to human genetic diseases. Two lines of investigation are currently underway, one that includes syndromes with behavioral and neurodevelopmental anomalies, and the other one related to hearing loss.

List of Publications

Gaofeng Wang, PhD

Gaofeng Wang, Ph.D.

Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics and Department of Ophthalmology, Bascom Palmer Eye Institute
Member, John P. Hussman Institute for Human Genomics
Email: gwang@med.miami.edu

Research Area: Dr. Wang identified the S-nitrosylation of large GTPase dynamin-1 and its regulatory role in receptor-mediated endocytosis and bacteria invasion when he was a postdoctoral trainee. He also studied the functions of genetic variants in hereditary diseases, especially the discovery of miRNA polymorphic binding on the FGF20 gene which confers risk of Parkinson’s disease and the identification of mutations in REEP1 causing spastic paraplegia. In the early stage of his independent research, Dr. Wang investigated the role of chromosome 10q26 locus in age-related macular degeneration and identified novel genetic mutations in orbital cancer. In 2013, his lab published first that vitamin C, acting as a cofactor, promotes TET-mediated DNA demethylation. This finding has been confirmed by later reports from other groups and is now widely accepted in the field. Since then, his lab has been testing vitamin C to synergize with other therapies through the epigenetic pathway for cancer treatment. Further research in his lab revealed that G-protein coupled receptors via cAMP regulate the demethylation of DNA and histones by modulating the intracellular labile Fe(II), an essential cofactor for TET methylcytosine dioxygenases and JmjC domain-containing histone demethylase. Currently, his lab studies how vitamin C, metabolites and cellular signals regulate the epigenome, especially in cancer.

List of Publications

Liyong Wang, PhD

Liyong Wang, Ph.D.

Research Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Member, John P. Hussman Institute for Human Genomics
Email: lwang1@med.miami.edu

Research Area: Dr. Wang’s research interest is to understand the biological basis for common, complex human diseases using ever evolving genomic technologies. She is a molecular geneticist by training and has research experience in genetic analysis including various applications using next-generation sequencing, in silico annotation, pathway analysis, CRISPR-Cas9 mediated genome editing, and extracellular vesicle research. Recently, her research focuses have shifted to epigenomic analysis including DNA methylation and chromatin structure analysis. Her research goals are to understand the functional impact of genetic variants mapped in the previous genetic studies and reveal “missing heritability” in the previous genetic studies, using the epigenomic functional study design.

List of Publications

Juan Young, PhD

Juan Young, Ph.D.

Research Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Director, Division of Human Disease Modeling, Center for Molecular Genetics, John P. Hussman Institute for Human Genomics
Email: Jyoung3@med.miami.edu

Research Area: Dr. Young’s research is based in genetic diseases and in epigenetic mechanisms of gene regulation. His lab uses molecular techniques to understand the mechanisms underlying genetic disorders such as Rett Syndrome, Bohring-Opitz syndrome, GAND, Alzheimer disease and Clef lip and palate as well neuroprotection against cerebral ischemia.

List of Publications

Stephan Schürer, Ph.D.

Stephan Züchner, M.D., Ph.D.

Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
Member, John P. Hussman Institute for Human Genomics
Email: SZuchner@med.miami.edu

Research area: Dr. Züchner’s research interests are focused on identifying genetic variation with a strong biological effect associated with disease. He is currently pursuing large – scale genome analyses in multiple neurodegenerative disorders and is developing novel personalized genetic therapies for inherited diseases.

List of Publications