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Faculty Profiles

Human Genetics and Genomics (Ph.D.)
 
Tasuku Akiyama, PhD

Tasuku Akiyama, Ph.D.

Associate Professor, Dermatology

Lab | Publications | Email
Office Location: Rosenstiel Medical Science Building #2063
Lab Location: Rosenstiel Medical Science Building #2069
Phone305-243-6552

Graduate ProgramsHuman Genetics & GenomicsNeuroscience

Keywords: Pain, Itch, Anxiety, Brain circuit, Neuro-immune interaction 

Research Focus: Our research focuses on the molecular and cellular mechanisms of itch and pain. Our laboratory develops and uses multiple mouse models of chronic itch, including atopic dermatitis, psoriatic itch, and post-burn itch.  Additionally, our team employs various in vitro and in vivo research approaches, including genetic tools, optogenetics, chemogenetics, calcium imaging, neuronal tracing, molecular expression profiling, electrophysiology, and multiple behavioral assessments in mice. 
Himanshu Arora, PhD

Himanshu Arora, Ph.D.

Research Assistant Professor, Urology

Email: hxa287@med.miami.edu

The goals of our research are to (1) understand the link between normal embryonic development, malignant conversion, and tumor progression; (2) identify the molecular mechanisms that lead to the loss of normal differentiation and affect the tumor microenvironment; and (3) work in an interdisciplinary manner to apply this knowledge in order to revolutionize the way prostate cancer is treated.

Rene Barro-Soria, Ph.D.

Rene Barro-Soria, Ph.D.

Research Assistant Professor, Endocrinology, Diabetes and Metabolism

Email: rbarro@miami.edu

I am interested in understanding the physical principles underlying ion channel function and modulation within both physiological and pathophysiological contexts. My research has focused on molecular mechanisms by which Kv channelopathies cause disorders in excitable cells (e.g. cardiac arrhythmias, epilepsy), and designing small molecules for treating these diseases. To meet these goals, my laboratory uses single-molecule fluorescence approaches, patch clamp, and voltage clamp techniques.

Gary Beecham, PhD

Gary Beecham, Ph.D.

Associate Professor, Human Genetics
Director, Research Informatics, CGESG, Hussman Institute

Email: 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's Disease and Charcot-Marie-Tooth disease. His specific interests include imputation methods, copy number analysis, and multiple testing problems.

Susan Blanton, PhD

Susan Blanton, Ph.D.

Graduate Program Director, Human Genetics & Genomics
Graduate Program Director, M.D./M.S. in Genomic Medicine
Associate Director, Collaborations & Compliance
Professor, Human Genetics
Professor, Otolaryngology

Email: 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 N. Cukier, Ph.D.

Holly Cukier, Ph.D.

Associate Director, Induced Pluripotent Stem Cell Core
Research Assistant Professor, Neurology

Email: 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, Ph.D.

Associate Professor, Molecular and Cellular Pharmacology
Associate Professor, Cell Biology

Email: 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, Ph.D.

Associate Professor, Microbiology and Immunology
Co-Director, Center for Molecular Genetics, Hussman Institute
Associate Professor, Human Genetics

Email: 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.

Maria Figueroa, M.D.

Maria Figueroa, M.D.

Associate Professor, Human Genetics

Email: 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.

Anthony Griswold, PhD

Anthony Griswold, Ph.D.

Research Assistant Professor, Human Genetics
Associate Director, Center for Genome Technology

Email: 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, Ph.D.

Professor, Ophthalmology

Lab | Publications | Email
Lab Location: McKnight #413
Office Location: McKnight #407
Phone: 305-243-5723

AffiliationsBascom Palmer Eye Institute

Graduate Programs: Human Genetics & Genomics, Molecular & Cellular Pharmacology, Neuroscience, Vision Science & Investigative Ophthalmology

Keywords: retina, neuroscience, neuroinflammation, Wnt signaling, glial biology

Research Summary: The research in Dr. Hackam’s laboratory encompasses the fields of genetics and ophthalmology. Our focus is on understanding signaling mechanisms that contribute to retinal degeneration and tumorigenesis, through the use of cellular, molecular and bioinformatics analyses.
 
Joshua M. Hare, M.D.

Joshua M. Hare, M.D.

Director, Interdisciplinary Stem Cell Institute (ISCI)
Louis Lemberg Professor of Medicine

Email: jhare@miami.edu

We use a multi-faceted approach, from basic research to clinical trials, to understand and improve cardiovascular function.  Our research focuses on optimizing the therapeutic potential of adult stem cells and novel pharmacologic agents, determining the function of nitric oxide in cardiac repair, and understanding cardiovascular development using pluripotent stem cells.

Jennifer Hu, PhD

Jennifer Hu, Ph.D.

Associate Director, Division of Cancer Prevention and Control
Professor, Biochemistry and Molecular Biology; Public Health

Email: 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 the implication of DNA repair in precision medicine.

Brian Kunkle, Ph.D., MPH

Assistant Research Professor, Hussman Institute for Human Genomics
Director, Genetic Epidemiology Division in the CGESG

Publications | Email

Location: Biomedical Research Building, Room 418
Phone: 305-243-7332

Dr. Kunkle is a genetic epidemiologist with extensive experience analyzing clinical and genomic data in a multi-disciplinary environment. He is an investigator for several large multi-site studies of Alzheimer disease including: 1) the Alzheimer’s Disease Sequencing Project (ADSP), 2) the Alzheimer’s Disease Genetics Consortium (ADGC), and 3) the International Genomics of Alzheimer’s Project (IGAP). Within the ADSP he serves on the AD Gene Verification Committee and helps lead the ADSP Follow-Up Study (FUS) effort to increase ancestral diversity in Alzheimer’s research.

Stefan Kurtenbach, Ph.D.

Assistant Professor, Ophthalmology

Publications | Email

Location: Biomedical Research Building, Room 913
Phone: 305-243-3892

Dr. Kurtenbach’s research targets the question how the epigenetic consequences of mutations cause increased metastatic risk in uveal melanoma and other cancers. Uveal melanoma remains a highly deadly cancer for which no good treatment options exist. Using a large variety of epigenomic methods, his lab characterizes the epigenome during tumor development, and explores novel treatment options to reverse the effect of oncogenic mutations and epigenetic changes.

Sandra Lemmon, PhD

Sandra Lemmon, Ph.D.

Professor, Molecular & Cellular Pharmacology
Director, MSTP Program

Email: 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, M.D., Ph.D., 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

Email: 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, Ph.D.

Director, Genetic Epidemiology and Statistical Genetics
John P. Hussman Institute for Human Genomics
Professor, Public Health Sciences, Human Genetics

Email: emartin1@med.miami.edu

Dr. Martin is a statistical geneticist whose interest is in mapping genes for complex diseases like Alzheimer's disease, Parkinson's 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, Ph.D.

Associate Professor, Human Genetics
Associate Professor, Pathology
Director, Biorepository Core Facility, Hussman Institute
Director, Genome Technology, Hussman Institute

Email: 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, Ph.D.

Kushlan Chair Waterbird Biology & Conservation
Associate Professor, Biology, Marine Biology & Ecology
kmccrack@bio.miami.edu

Email: 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, Ph.D.

Lichtenstein Professor, Neurology
Lichtenstein Professor, Cell Biology and Anatomy

Lab | Email

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, Ph.D.

Assistant Professor, Human Genetics

Email: 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 machinery, with a special focus on Polycomb group proteins, in cancer and stem cells. Dr. Morey’s laboratory's 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, Ph.D.

Associate Professor, Psychiatry & Behavioral Sciences

Email: amyers@med.miami.edu

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

Karen Nuytemans, PhD

Karen Nuytemans, Ph.D.

Research Assistant Professor, Human Genetics

Email: KNuytemans@med.miami.edu

Dr. Nuytemans is specifically interested in the genetics of Dementia with Lewy Bodies (DLB) and Frontotemporal Dementia (FTD), two so-called Alzheimer disease-related dementias, as well as Parkinson's Disease (PD). DLB is largely understudied genetically, in any population; while genetic research in FTD and PD, so far, has primarily focused on white, non-Hispanic population groups.

Mitsunori Ogihara, PhD

Mitsunori Ogihara, Ph.D.

Professor, Computer Science
Professor, Electrical and Computer Engineering
Director of Data Mining, Center for Computational Sciences
Associate Dean, Digital Library Innovation

Email: m.orihara@miami.edu

Margaret Pericack-Vance Ph.D.

Margaret Pericak-Vance, Ph.D.

Director, John P. Hussman Institute for Human Genomics
Executive Vice-Chair, Dept. of Human Genetics
Dr. John T. Macdonald Foundation Professor of Human Genetics
Professor, Neurology

Email: 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's 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 Schuerer

Stephan Schürer, Ph.D.

Professor, Pharmacology

Lab | Publications | Email
Location: Rosenstiel Medical Science Building #6112-B
Phone305-243-6552

Graduate ProgramsCancer BiologyHuman Genetics & GenomicsMolecular & Cellular Pharmacology

Keywords: drug discovery, cheminformatics, computational biology, medicinal chemistry, data science

Research Focus: The Schürer Systems Drug Discovery Research Group develops and applies data science approaches to chemistry and biology with a focus on developing small molecules with specific biological functions and mechanisms.  Our research programs interface data science, cheminformatics, computational biology, and medicinal chemistry.  To utilize very diverse and large datasets, generate predictive models, and enable others we develop data standards, ontologies, and full stack software applications.
William Scott, PhD

William Scott, Ph.D.

Professor, Human Genetics, Neurology and Public Health Sciences
Executive Director, UM Brain Endowment Bank

Email: 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's disease.

Ramin Shiekhattar, PhD

Ramin Shiekhattar, Ph.D.

Academic Director, Oncogenomic Core Facility
Chief, Division of Cancer Genomics and Epigenetics
Director, Cancer Epigenetics Research Program
Professor, Biochemistry & Molecular Biology
Professor, Human Genetics

Email: 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.

Dr. Stone

Rivka Stone, M.D., Ph.D.

Assistant Professor, Dermatology and Cutaneous Surgery

Lab | Publications | Email

Location: RMSB 2089
Phone: 305-243-4472

Dr. Stone is a physician scientist whose research focuses on utilizing bioinformatics to elucidate the mechanisms of skin disease. Her work incorporates personalized medicine approaches in analyzing patient-derived genomic datasets with the goal of identifying novel prognostic biomarkers, therapeutic targets, and treatment endpoints. She is specifically interested in studying the contribution of inflammatory pathways to chronic wounds, skin fibrosis, and other dermatologic conditions with unmet needs. 

Mustafa Tekin, M.D.

Mustafa Tekin, M.D.

Clinical Vice-Chair, Human Genetics
Director, Division of Clinical and Translational Genetics
Professor, Human Genetics

Email: 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, Ph.D.

Lab | Publications | Email

Professor, Dermatology
Vice-Chair for Research in Dermatology
Director of Wound Healing and Regenerative Medicine
Adjunct Professor, NYU School of Medicine

Research Summary: 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, Ph.D.

Director, Center for Computational Science
Professor, Medicine
Professor, Computer Science
Professor, Health Informatics

Email: 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 the development of novel therapeutics.

Luis Tuesta, Ph.D.

Luis Tuesta, Ph.D.

Assistant Professor of Psychiatry & Behavioral Sciences

Email: l.tuesta@miami.edu

Our lab focuses on understanding the addicted brain from molecular and behavioral perspectives. We tailor epigenetic profiling methods and bioinformatics approaches to ask how transcription is regulated within genetically-defined neuron families of the brain reward system. Combined with mouse models of drug addiction (IV self-administration), we work to identify genetic targets that can regulate different stages of the disease, and ultimately curb drug-taking and prevent relapse in addicted individuals.

Jeffery Vance, MD, PhD

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

Director, Genomic Education & Outreach, Hussman Institute
Professor and Founding Chair, Human Genetics
Professor, Neurology

Email: jvance@med.miami.edu

Our primary areas of expertise lie in 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 on the application of clinical, molecular, and mathematical genetic techniques to identify genes leading to human disease.

Claes Wahlestedt, M.D., Ph.D.

Professor, Psychiatry and Behavioral Sciences
Associate Dean, Therapeutic Innovation
Director, Center for Therapeutic Innovation

Lab | Publications | Email
Phone: 305-243-1367
Location: BRB 407

Affiliations: Psychiatry & Behavioral Sciences, Center for Therapeutic Innovation

Graduate Programs: Biochemistry & Molecular Biology, Cancer Biology, Human Genetics & Genomics, Molecular & Cellular Pharmacology, Neuroscience

Research Summary: We study the role of the non-coding 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, Ph.D.

Director, Human Disease Modeling, Hussman Institute
Research Associate Professor, Human Genetics

Email: 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 on 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, Ph.D.

Associate Professor, Human Genetics, Ophthalmology
Director, Functional Genomics, Center for Molecular Genetics, John P. Hussman Institute for Human Genomics

Email: 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, Ph.D.

Associate Professor, Human Genetics

Email: 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 the development of mixed-effects models for pathway-based analysis of gene expression datasets and genome-wide association studies.

Liyong Wang, PhD

Liyong Wang, Ph.D.

Research Associate Professor, Human Genetics

Email: 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's 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, Ph.D.

Associate Professor, Human Genetics
Co-Director, Center for Molecular Genetics, Hussman Institute

Email: jyoung3@med.miami.edu

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

R. Grace Zhai, Ph.D.

R. Grace Zhai, Ph.D.

Professor of Molecular and Cellular Pharmacology
Director, DREAM Scholarship Program

Publications | Email
Phone305-243-6316
Location: RMSB 6069

Graduate ProgramsHuman Genetics and Genomics, Molecular and Cellular PharmacologyNeuroscience

Research SummaryDr. Zhai’s research is focused on understanding the genetic and molecular mechanisms of neural degeneration and protection in the context of both common and rare neurological disorders.  Her group uses a ‘Drosophila - mammalian two-model system,' to identify genetic components in Drosophila and characterize the cellular mechanisms in mammalian cells.  Her group discovered and characterized one of the most robust neuroprotective factors that have broad therapeutic potential against several neurodegenerative diseases including Alzheimer’s and Huntington’s disease. At the same time, her group has established numerous genetic models for rare diseases and carried out mechanistic analyses of neurological phenotypes that have led to successful therapies in human patients.

Stephan Schürer, Ph.D.

Stephan Züchner, M.D., Ph.D.

Chair and Professor, Human Genetics
Professor, Neurology
Co-Director, John P. Hussman Institute for Human Genomics

Email: 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.