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  • Director

    Professor of Genetics, Director of the Yale Center for Genomic Health

    Dr. Hall's research career spans the fields of genetics, genomics, bioinformatics and data science. He received a B.A. in Integrative Biology from the University of California at Berkeley (1998), and worked as a technician for 2 years in Sarah Hake's plant genetics group at the USDA/ARS Plant Gene Expression Center. He received his Ph.D. in genetics from Cold Spring Harbor Laboratory (2003), where his work in Shiv Grewal's laboratory established the first direct link between RNA interference and chromatin-based epigenetic inheritance. As a postdoc with Michael Wigler (2004) and independent Cold Spring Harbor Laboratory Fellow (2004-2007), Dr. Hall used microarray technologies and mouse strain genealogies to conduct the first systematic study of DNA copy number variation hotspots. As a faculty member at the University of Virginia (2007-2014), Washington University (2014-2020) and Yale (2020-present), his work has sought to understand the causes and consequences of genome variation in mammals, with an increasing focus on computational methods development and human genetics. His group has developed bioinformatics tools for variant detection, variant interpretation, sequence alignment, data processing, and data integration. He has led genome-wide studies of human genome variation, heritable gene expression variation, human genetic disorders, tumor evolution, mouse strain variation, genome stability in reprogrammed stem cells, and single-neuron somatic mosaicism in the human brain. Dr. Hall's work has been featured in Science Magazine's Breakthrough of the Year (2003 & 2007), the NIMH Director's "Ten Best of 2013" and The Scientist (2013), and he has received several prestigious awards including the AAAS Newcomb Cleveland Prize (2003), the Burroughs Wellcome Fund Career Award (2006), the NIH Director's New Innovator Award (2009), and the March of Dimes Basil O'Connor Research Award (2010). He has also served as an Associate Editor at Genome Research (2009-2014) and Genes, Genomes and Genetics (2011-2018).

    Most recently, Dr. Hall has played a leadership role in several large collaborative projects funded by NIH/NHGRI including the Centers for Common Disease Genomics, the AnVIL cloud-based data repository and analysis platform, and the Human Pangenome Project. His current work is focused on two broad goals: (1) mapping variants and genes that confer risk to human disease, with ongoing projects focused on coronary artery disease and cardiometabolic traits in unique and underrepresented populations, and (2) developing methods for the detection and interpretation of human genome variation, with an emphasis on structural variation and other difficult-to-detect forms, and on comprehensive trait association in human disease studies.

  • Assistant Professor of Medicine (Nephrology)

    Dr. Besse received her bachelors degree in Biomedical Engineering from Brown University in 2003, pre-doctoral training in genetics at the Joslin Diabetes Center at the Harvard Medical School, her M.D. from the University of Connecticut School of Medicine in 2009, and clinical training in Internal Medicine/Nephrology at the Yale School of Medicine. Dr. Besse joined Yale School of Medicine faculty in the Department of Internal Medicine, Section of Nephrology in 2018. Her research training in Nephrology has been under the mentorship of Dr. Stefan Somlo, C.N.H Long Professor of Medicine (Nephrology) and Professor of Genetics. 

    Dr. Besse's field of research interest is genetic kidney diseases, with initial focus on polycystic kidney disease. She uses genetic approaches to identify novel disease genes for dominantly inherited polycystic kidney and liver diseases: a phenotypic spectrum from autosomal dominant polycystic kidney disease (ADPKD) to isolated polycystic liver disease (PCLD), and both in vitro and animal models to further disease gene mechanism investigation. Her identification and investigation of multiple genes has contributed understanding to how the central PKD protein, Polycystin-1, matures through the endoplasmic reticulum. She has contributed approaches for gene validation to the field. Dr. Besse has an active research program recruiting patients with genetically unresolved polycystic kidney and/or liver disease or other inherited kidney diseases for projects involving gene/pathway discovery and variant analysis in genetic kidney diseases. The goal of her lab is to have the identification of novel disease genes serve as an entry point for molecular biology investigation that contributes to a better understanding of disease mechanism and the identification of successful targets for treatments. 

  • Professor of Psychiatry

    Kristen Brennand, PhD is a new faculty member at the Yale School of Medicine, having recently moved her laboratory from the Icahn School of Medicine at Mount Sinai in New York, NY.  Her research integrates stem cell-based approaches with CRISPR-mediated genomic engineering strategies, in order to study the impact of patient-specific variants across and between the cell types of the brain. The goal of her research is to uncover the convergence and synergy arising from the complex interplay of the many risk variants linked to brain disease. Dr. Brennand’s work is funded by the National Institutes of Health, the New York Stem Cell Foundation, the Brain Research Foundation, and the Brain and Behavior Research Foundation.

  • Professor of Pediatrics (Cardiology)

    Martina Brueckner obtained her BS and MD degrees from the University of Virginia, followed by a Pediatric Residency at the University of Pittsburgh and a Pediatric Cardiology Fellowship at Yale University School of Medicine. Her clinical and research focus is genetics of congenital heart disease (CHD). The goal of the lab's work is to determine the genetic cause and developmental mechanisms underlying CHD with a focus on the function of cilia in heart development. Our work aims to bridge research in the basic developmental biology mechanisms underlying development of the embryonic left-right axis with clinical pediatric cardiology and cardiac genetics.  The laboratory has been integral in understanding the cellular and molecular mechanism underlying vertebrate LR asymmetry, identifying genes and mechanism by which motile and immotile cilia establish an early asymmetric calcium signal that is essential to normal LR development of the heart. As part of the Pediatric Cardiac Genomics Consortium (PCGC), we are now combining our understanding of the basic biology underlying left-right development with state-of-the-art genomic approaches to a more comprehensive understanding of human CHD. We are focusing on the ability to identify the genetic causes of CHD, and to directly test putative genetic causes of human CHD identified from genomic analysis of patient DNA in animal model systems including mouse and zebrafish, and finally to  link genetic and developmental mechanisms of CHD to improved care of patients with CHD.

    Dr. Brueckner's clinical focus is on patients with genetic causes of congenital heart disease. It has become increasingly apparent that a large portion of cardiovascular disease in children and adolescents has as its underlying etiology a genetic defect.  Dr. Brueckner co-founded one of the first pediatric cardiac genetics clinics at Yale-New Haven Children's Hospital. The clinic provides comprehensive diagnostic evaluation and follow-up care for patients with genetic-cardiovascular disease. Dr. Brueckner has been a staff cardiologist since completing her fellowship at Yale in 1990.

  • Associate Dean for Physician-Scientist Development and Professor of Dermatology, Pathology and Genetics; Director of Research, Dermatology

    Keith Choate M.D., Ph.D., is a physician-scientist who employs tools of human genetics to understand fundamental mechanisms of disease. His laboratory studies rare inherited and mosaic skin disorders to identify novel genes responsible for epidermal differentiation and development.  His laboratory has identified the genetic basis of over 12 disorders and has developed new therapeutic approaches informed by genetic findings.  His laboratory is funded by the National Institute of Arthritis and of Musculoskeletal and Skin Diseases, a division of the National Institutes of Health.

    Dr. Choate mentors undergraduate, graduate, and medical students in his laboratory, teaches at Yale Medical School, and trains resident physicians and fellows.

  • Professor of Biostatistics; Director of Medical Research, School of Public Health

    Elizabeth B. Claus, MD, PhD is Professor and Director of Medical Research in the Yale University School of Public Health as well as Attending Neurosurgeon and Director of Stereotactic Radiosurgery within the Department of Neurosurgery at Brigham and Women’s Hospital in Boston. She is a member of the board of advisors for the Acoustic Neuroma Association (ANA) as well as the Central Brain Tumor Registry of the United States (CBTRUS). Dr. Claus' work is focused in cancer and genetic epidemiology with an emphasis on the development of risk models for breast and brain tumors. She is the overall PI of the Meningioma Consortium, the Meningioma Genome-Wide Association Study, and the Yale Acoustic Neuroma Study as well as a co-investigator of the GLIOGENE (Genes for Glioma) and International Glioma Case/Control (GICC) projects. In addition to her research activities, Dr. Claus is a Board-certified neurosurgeon who completed her residency in neurosurgery at Yale-New Haven Hospital and her fellowship in neurosurgical oncology at Brigham and Women’s Hospital. Her clinical focus is on the treatment of meningioma, glioma, acoustic neuroma and brain metastases. In partnership with national patient brain tumor organizations including the American Brain Tumor Association (ABTA), the National Brain Tumor Society (NBTS) and the ANA, Dr. Claus is working to develop cost- and time-efficient web- and smartphone- based recruitment strategies to be used in the study of brain tumors. She has developed such work in collaboration with the ANA and recently received pilot funding from the ABTA/NBTS to commence development of a web-based registry for patients with low grade glioma in an effort to advance research efforts for this group of patients.

  • Associate Professor of Neurology; Associate Professor of Genetics

    My lab focuses on understanding the biological processes driving immune and neurological diseases, with a particular interest in sex biases in these diseases. We use an integrative approach incorporating both wet and dry techniques, from large-scale genetic studies to detailed genomic dissections of cellular responses. For more information please see our lab website.


  • Assistant Professor of Neurology

    I am a Neurologist with subspecialty training in Neurocritical Care and Stroke, and an Epidemiologist with expertise in Population Genetics and Big Data. While on clinical duties, I treat critically ill patients that have sustained a significant neurological injury due to ischemic stroke, subarachnoid hemorrhage, intraparenchymal hemorrhage, traumatic brain injury, seizures, recent neurosurgery, decompensated neuromuscular diseases, and several others.

    My research lies at the interphase of clinical neurology, neuroimaging, population genetics and genomic medicine. I am interested in understanding how common and rare genetic variation influences the occurrence, severity, functional outcome and recurrence of stroke, both hemorrhagic and ischemic. Genetic variants influencing these phenotypes can be used for numerous applications, including: (1) identification of novel biological mechanisms involved in causing stroke and determining its severity and outcome, (2) answering non-genetic epidemiological questions using gene mutations as instruments (in the statistical sense of the word), and (3) risk stratification of patients according to their genetic profile. Through the International Stroke Genetics Consortium, I work in close collaboration with numerous investigators interested in stroke genomics from around the world.

  • Foundations Fund Professor of Psychiatry and Professor of Genetics and of Neuroscience; Director, Division of Human Genetics (Psychiatry)

    Joel Gelernter, MD, is Foundations Fund Professor of Psychiatry and Professor of Genetics and Neurobiology; and Director, Division of Human Genetics (Psychiatry), at the Yale University School of Medicine.

    The research focus of his laboratory is genetics of psychiatric illness – phenotypes including cocaine, opioid, nicotine, cannabis, and alcohol dependence, posttraumatic stress disorder (PTSD), and panic and other anxiety disorders. He also studies a range of intermediate phenotypes, such as neuroimaging measures; and basic issues in population and complex trait genetics. The overall approach involves study of genetic polymorphism and sequence variation, on a molecular level and from the perspective of population genetics. Dr Gelernter’s laboratory published genomewide association studies (GWAS) for cocaine and opioid dependence, PTSD, alcohol dependence, nicotine dependence, and several related traits. All of these studies have resulted in the identification of novel risk loci.

  • Research Scientist in Pathology; Director, Section of Pathology Informatics and Cancer Data Science, Pathology

    Dr. Gershkovich joined Pathology Department in 2004 shortly after completing the NLM funded fellowship training at Yale Center for Medical Informatics. Since that time he led the development of novel, cutting-edge software to mesh emerging technologies with existing commercial Laboratory Information System, robotic laboratory instruments, Digital Pathology equipment, and the Hospital EMR.  Dr. Gershkovich was recently appointed as the Director, Section of Pathology Informatics and Cancer Data Science within the YSM Department of Pathology. He is also being promoted to an Associate Professor on the Clinical Track (pending the completion of the standard University approval processes). 

    Dr. Gershkovich is interested in clinical information visualization, DNA sequencing analysis, NLP, and full-text search of clinical data, focusing on how to better assemble, compile, and deliver relevant information at the point where a clinical decision needs to be made.

    A key underlying philosophy in all of his software development has been to develop solutions that integrate into the daily workflow of the Pathology Department.  

    Most recently, in response to COVID epidemics, his group rapidly created and deployed a suite of software modules to support SARS-CoV-2 testing, further demonstrating that implanting software engineering activities in clinical services and translational research is essential for modern patient care.

    This work is critical for patient safety, the integration and accuracy of new diagnostic techniques, continuous quality improvement, and workflow reengineering in medicine. 


     

  • Albert L Williams Professor of Biomedical Informatics and Professor of Molecular Biophysics & Biochemistry, of Computer Science, and of Statistics & Data Science

    After graduating from Harvard with a A.B. in physics in 1989, Prof. Mark Gerstein earned a doctorate in theoretical chemistry and biophysics from Cambridge University in 1993. He did postdoctoral research in bioinformatics at Stanford University from 1993 to 1996. He came to Yale in 1997 as an assistant professor in the Department of Molecular Biophysics and Biochemistry, and since 1999, in the Computer Science Department. He was named an associate professor in 2001, and the following year became co-director of the Yale Computational Biology and Bioinformatics Program. Gerstein has published appreciably in the scientific literature, with >400 publications in total, including a number of them in prominent venues, such as Science, Nature, and Scientific American. His research is focused on bioinformatics, and he is particularly interested in data science & data mining, macromolecular geometry & simulation, human genome annotation & disease genomics, and genomic privacy. 

  • Fergus F. Wallace Professor of Genetics; Chair, Genetics

    Antonio studied Chemistry and Molecular Biology at the University of Cadiz and the University Autonoma of Madrid. During undergraduate, he worked with Gines Morata at the CBM in Madrid. Antonio did his PhD with Stephen Cohen at the EMBL (Heidelberg) (1998-2002) and a post-doc with Alex Schier at the Skirball Institute (NYU) and Harvard (2003-2006). Antonio established his laboratory at Yale in 2007 where he investigates the regulatory codes that shape gene expression during embryonic development. He was Director of Graduate Studies (2012-2016) and is currently Chair of the Genetics Department (2017- ).

  • Professor of Pediatrics (Neonatology) and of Genetics; Faculty, Investigative Medicine Program, Yale Graduate School of Arts and Sciences

    Dr. Gruen received his BS and his MD degrees from Tulane University in New Orleans. He has been at Yale since beginning internship training in pediatrics in 1981, which was followed by subspecialty training in neonatology and research training in molecular genetics with Dr. Sherman Weissman. Dr. Gruen formally joined the faculty at Yale in 1988, splitting his time as a neonatology attending in the Newborn Intensive Care Unit (NICU) at Yale-New Haven Hospital and his lab where he initially mapped the gene for hemochromatosis. By 2000, the focus of his lab turned to mapping and identifying the reading disability (dyslexia) gene locus on chromosome 6 (DYX2). His lab was the first to generate high-resolution genetic markers, genetic association maps, and gene expression maps of DYX2. These studies led to the identification of DCDC2, a dyslexia gene that was cited by the journal Science as the 5th top breakthrough of 2005. The lab performed an NIH funded clinical study of DCDC2 and other genes related to reading and language in the ALSPAC birth cohort of 10,000 children and mothers. These studies identified the transcriptional control element called READ1, and READ1 alleles that are detrimental and protective for reading disability and language impairment. Dr. Gruen is the principal investigator for the Yale Genes, Reading and Dyslexia (GRaD) Study, a ground-breaking case-control study of dyslexia in 1,400 Hispanic American and African American children recruited from seven sites across North America. He was the Yale site PI for the NIH Pediatric Imaging NeuroGenetics (PING) Data Resource Study of 1,575 normal children, ages 3-20 years. Most recently, Dr. Gruen started the New Haven Lexinome Project, a new six-year longitudinal study of the genetics of response-to-intervention spanning the entire 2015 and 2016 New Haven Public Schools first grade classes. The goals of the New Haven Lexinome Project are to determine risk for learning disabilities conferred by specific genetic variants for presymptomatic diagnosis, and to determine how genetic variants inform intervention for precision/personal education. In addition to his research, Dr. Gruen continues to attend 8 weeks each year in the NICU at the Children’s Hospital at Yale-New Haven.

    How genes can change language. Short video showing how our genes could account for a substantial amount of the diversity of languages around the world

    How genes can change language. Short video showing how our genes could account for a substantial amount of the diversity of languages around the world

  • Scientific Director and Advisor to the Chair

    Caroline was born in Brisbane, Australia and earned her undergraduate degree in Genetics at the University of Queensland, Australia. She earned her PhD under Prof Melissa Little at the Institute for Molecular Bioscience and went on to do a post-doc with Prof Ihor Lemishka at the Mount Sinai School of Medicine, NY. Following her postdoc, Caroline moved to Cambridge, UK, where she took on a new role as Reviews Editor for the journal Development, covering the stem cells and regeneration fields. She is now the Scientific Director and Advisor to the Chair and is responsible for the overall management of the research portfolio of the Department.

  • Professor and Chief of Medical Genetics

    I am physician scientist active both in basic research and clinical practice. My research interests are to 1) uncover the genetic and epigenetic bases of neurodevelopmental disorders or rare diseases with neurodevelopmental defects; 2) model genetic diseases using human patients derived cellular models and genetic mutant mice; 3) understand the circuit and molecular mechanisms underlying autism spectrum disorder; 4) develop novel molecular and epigenetic targeted therapies for genetic and epigenetic diseases. My clinical expertise is on clinical and biochemical genetics of rare and undiagnosed diseases in children and adult.

  • Professor with Tenure of Pediatrics (Critical Care Medicine)

    We are interested in the molecular mechanisms that cause critical illness in infants and children. We enroll patients with birth defects or other critical illness that cannot be explained by an acquired illness and perform exome sequencing in order to identify candidate genes that may explain the child's disease. Then we model the candidate gene in order to understand its function. In the context of birth defects, we employ the high-throughput human disease model, Xenopus tropicalis in which we can knockout desired genes and examine consequent phenotypes in just three days.

    Traditionally gene discovery in these patients was very challenging, but now not only is candidate gene discovery feasible but we can rapidly model the human disease and understand gene function in model organisms or patient cells depending on the optimal approach.

  • Associate Professor of Genetics and of Computer Science

    Smita Krishnaswamy is an Associate professor in Genetics and Computer Science. She is affiliated with the applied math program, computational biology program,  Yale Center for Biomedical Data Science and Yale Cancer Center. Her lab works on the development of machine learning techniques to analyze high dimensional high throughput biomedical data. Her focus is on unsupervised machine learning methods, specifically manifold learning and deep learning techniques for detecting structure and patterns in data. She has developed algorithms for non-linear dimensionality reduction and visualization, learning data geometry,  denoising, imputation, inference of multi-granular structure, and inference of feature networks from big data. Her group has applied these techniques to many data types such as single cell RNA-sequencing, mass cytometry, electronic health record, and connectomic data from a variety of systems. Specific application areas include immunology,  immunotherapy, cancer, neuroscience, developmental biology and health outcomes. Smita has a Ph.D. in Computer Science and Engineering from the University of Michigan.

  • Harold H. Hines, Jr. Professor of Medicine (Cardiology) and Professor in the Institute for Social and Policy Studies, of Investigative Medicine and of Public Health (Health Policy); Director, Center for Outcomes Research and Evaluation (CORE)

    Harlan Krumholz is a cardiologist and scientist at Yale University and Yale New Haven Hospital. He is the Harold H. Hines, Jr. Professor of Medicine and director of the Center for Outcomes Research and Evaluation (CORE). He is a leading expert in the science to improve the quality and efficiency of care, reduce disparities, improve integrity in medical research, and avoid wasteful practices.

    Dr. Krumholz has been honored by membership in the National Academy of Medicine, the Association of American Physicians, and the American Society for Clinical Investigation. He was named a Distinguished Scientist of the American Heart Association and received their Clinical Research Prize. He founded the American Heart Association’s Quality of Care and Outcomes Research Council and their annual conference. He was the founding editor of Circulation: Cardiovascular Quality and Outcomes; founding editor of CardioExchange, a social media site of the publisher of the New England Journal of Medicine; and a founding Governor of the Patient-Centered Outcomes Research Institute. He served as a member of the Advisory Committee to the Director of the National Institutes of Health. Dr. Krumholz received the Friendship Award from the People’s Republic of China in recognition of his collaborative efforts to develop a national cardiovascular research network, and was named by the Chinese Society of Cardiology as a Top-10 Distinguished International Cardiologist for his contributions to the development of cardiovascular medicine in China.

    Recent efforts are focused on harnessing the digital transformation in healthcare to accelerate knowledge generation and facilitate the delivery of care aligned with each patient’s needs and preferences. Dr. Krumholz leads the Yale University Open Data Access (YODA) Project, designed to increase access to clinical research data and promote their use to generate new knowledge. He is a co-founder of HugoHealth, a patient-centric platform to engage people as partners in research and facilitate the secure movement of digital health data. He is also a co-founder of medRxiv, a non-profit preprint server for the medical and health sciences, and co-founder of Refactor Health, an enterprise healthcare AI-augmented data management company.

    Before joining the Yale faculty in 1992, Dr. Krumholz received a BS (Biology) from Yale, an MD from Harvard Medical School, and a Masters in Health Policy and Management (SM) from the Harvard University School of Public Health. At Yale, he directed the Robert Wood Johnson Foundation Clinical Scholars Program from 1996-2017 and serves as Director Emeritus of the National Clinician Scholars Program. He was a founding faculty co-director of the Yale Center for Research Computing. Dr. Krumholz has published more than 1000 articles and three books, and has an h-index of almost 200. 

  • Assistant Professor

    Monkol received an undergraduate degree in Engineering (Computer Engineering) in 2000 at the University of New South Wales (UNSW) and then worked for IBM for 3.5 years. He returned to UNSW and completed undergraduate degrees in Science (Physiology) and Engineering (Bioinformatics) and received the University Medal in 2007. He completed his PhD (Medicine) at the University of Sydney in 2012 with the thesis topic: Functional differences between alpha-actinin-2 and alpha-actinin-3. Monkol did his post-doctoral training in Daniel MacArthur’s lab based at Massachusetts General Hospital, Harvard Medical School and the Broad Institute.  

    He was the lead author/analyst for the Exome Aggregation Consortium (ExAC) project that was published in Nature 2016. He went on to lead the NIH funded Broad Center for Mendelian Genomics (CMG) analysis team. As lead analyst, he oversaw the analysis strategy for all major CMG collaborations and organized monthly meetings to foster sharing of new methods and analysis amongst the rare disease community. He also coordinated the data processing and preliminary analysis of NIH Gabriella Miller Kids First (GMKF) cohorts sequenced or reprocessed at the Broad Institute.

    Monkol has a strong passion for rare muscle disease research as a patient with Limb Girdle Muscular dystrophy (LGMD2G). During his time in the Broad Institute, he lead the exome/genome analysis of MYOSEQ (European cohort of >1000 LGMD patients) and SeqNMD (an international consortium of undiagnosed rare muscle diseases) which has resulted in novel disease gene discovery.

  • Assistant Professor of Genetics

    Bluma (Bibi) Lesch works on the genetics and epigenetics of reproduction and development, with a special interest in the evolution of epigenetic and chromatin states in mammals. Understanding the evolution of gene regulation in gametes requires integrating information across a wide range of biological scales, from the regulation of molecules to the development of individuals to the evolution of species. Dr. Lesch’s work brings together these divergent approaches to thinking about biology.

    Dr. Lesch earned her B.S. from Yale University in 2003. She obtained her Ph.D. in 2010 from Rockefeller University and her M.D. in 2011 from Weill Cornell Medical College in New York City.  She was a postdoctoral fellow at the Whitehead Institute in Cambridge, MA, from 2011-2017, where she was awarded an NIH Kirschstein postdoctoral fellowship and also named a Hope Funds for Cancer Research postdoctoral fellow.  She received a Burroughs Wellcome Career Award for Medical Scientists in 2015, and returned to New Haven to join the Yale faculty in 2017.

  • Assistant Professor of Pathology and Epidemiology (Chronic Diseases)

    Morgan Levine is a ladder-rank Assistant Professor in the Department of Pathology at the Yale School of Medicine and a member of both the Yale Combined Program in Computational Biology and Bioinformatics, and the Yale Center for Research on Aging. Her work relies on an interdisciplinary approach, integrating theories and methods from statistical genetics, computational biology, and mathematical demography to develop biomarkers of aging for humans and animal models using high-dimensional omics data. As PI or co-Investigator on multiple NIH-, Foundation-, and University-funded projects, she has extensive experience using systems-level and machine learning approaches to track epigenetic, transcriptomic, and proteomic changes with aging and incorporate this information to develop measures of risk stratification for major chronic diseases, such as cancer and Alzheimer’s disease. Her work also involves development of systems-level outcome measures of aging, aimed at facilitating evaluation for geroprotective interventions. A number of the existing biological aging measures she has developed are being applied in both basic and observational research.

    https://www.morganlevinelab.com

  • Associate Professor of Genetics

    The research activities in my laboratory focuses on the structural and functional characterization of human chromosome abnormalities. Molecular methods such as fluorescence in situ hybridization (FISH) mapping, microsatellite allelotyping, and next-generation sequencing have been used. We have performed high through-put chromosome-specific and genome-wide array-based analysis for mapping segmental deletions/duplication and sequencing rearrangement breakpoints. The goals are to identify disease-causing genes or bio-markers of diagnostic and prognostic values, and to dissect underlying molecular mechanisms.

  • Anthony N. Brady Professor of Pathology; Chair, Pathology; Chief of Pathology, YNHH, Pathology

    Dr. Liu is an expert in viral hepatitis, liver cancer immunotherapy, graft-versus-host disease, and cancer epigenetics. Dr. Liu is Chair of the Department of Pathology and Chief of Pathology at Yale New Haven Hospital. 

    After obtaining his medical degree at Tong Liao Medical College at Inner Mongolia University of Nationality and completing his postgraduate training at Peking Union Medical College in China, Liu received his PhD in pathology from the University of Pennsylvania School of Medicine. He completed his residency in anatomical and clinical pathology at Medical College of Pennsylvania, held an oncological pathology fellowship at M.D. Anderson Cancer Hospital, and had postdoctoral training at Scripps Clinic. Before his appointments at Rutgers in 2015, he was professor and vice chair of pathology, immunology, and laboratory medicine at the University of Florida, where he also held an endowed chair in gastrointestinal and liver research.

  • Assistant Professor of Immunobiology

    Dr. Carrie L. Lucas received her PhD from Harvard Medical School and her postdoctoral training from the National Institutes of Health, NIAID. Her laboratory discovers single-gene defects underlying severe immune disorders in humans and investigates mechanisms using patient cells and genetically engineered mouse models. A major focus of her work has been on phosphoinositide 3-kinase (PI3K) signaling and mechanisms of disease in immunodeficient patients with mutations in PI3K subunits.

  • Professor of Genetics; Director, MBB Keck Biotech laboratory; Director, Yale Center for Genome Analysis

    Dr. Mane brings expertise for genomic and proteomic analyses using both microarray and high-throughput DNA sequencing technologies. He received his Ph.D. in Cancer Biology in 1985 and did his Postdoc at the Johns Hopkins University School of Medicine. He is the Director of the Yale Center for Genome Analysis (YCGA) Shared Resource and the Director of The Keck Biotechnology Resource Laboratory at Yale. He has published more than 125 articles, holds 2 patents, and has amassed over 25 years of research experience in both academic and private industry. He has attracted significant funding from NIH and other sources to maintain cutting edge genomic technologies at Yale. Currently, Dr. Mane is one of four PIs of the Yale Center for Mendelian Genomics established in 2012 through an $11.2 million-dollar grant from NHGRI. Besides directing the YCGA, he pursues research in the field of neuroscience. Dr. Mane has a demonstrated record of establishing a successful and productive genomic facility that has provided over 58,000 sequence analyses (library prep, sequencing and analyses) to 225 Yale and 124 non-Yale principal investigators from 72 national and 16 international institutions. 

  • Professor of Medicine (Cardiology) and of Genetics; Director, Cardiovascular Genetics Program; Director, Cardiovascular Module

    My laboratory’s major focus is the identification of genetic causes of major cardiovascular disorders and the elucidation of their pathophysiology. Through collaborative efforts with physicians and scientist across the world we have recruited large populations of patients and families with early onset coronary artery disease and metabolic syndrome and have successfully mapped and identified number of genes for these diseases. An ongoing effort in the laboratory is to understand the function of these genes and how the mutations affect the phenotype, using mouse and zebrafish models.

    Having unique access to the genetic study population, we have had the opportunity to carry out clinical studies to investigate the disease mechanisms and have made numerous novel discoveries. We are actively investigating pathways that regulate insulin signaling, glucose metabolism, VLDL and LDL syntheis and clearance and atherosclerosis.

    In addition, my laboratory studies the genetic causes of adult congenital heart disease, such as bicuspid aortic valve, atrial fibrillation and patent ductus arteriosus.

  • Assistant Professor; Creative Director, Science for Good Initiative; Advisory Board Member, Global Healthcare Innovation Management Center, Graduate School of Business; Director, Good Pharma Scorecard Initiative; Board President, Bioethics International; Co-Director, Bioethics Masters Summer Intensive Program (with Llew Keltner); Yale Liaison, Working Group on: Bioethics of Data Science, Artificial Intelligence (AI) and Genomics Implementation Science Curriculum; Expanded Access Program for Experimental Covid19 Drugs, Ethics Committee

    Jennifer E. Miller, PhD, is an Assistant Professor in Yale School of Medicine and Director of the Good Pharma Scorecard initiative, an index that ranks new drugs and pharmaceutical companies on their ethics and and patient-centricity performance.

    Dr. Miller's research explores the ethics of healthcare innovation, particularly how drugs are researched, developed, marketed, priced and made accessible to patients domestically and globally. She also works on the ethics of big data in healthcare, including informed consent, data-sharing, and ownership concerns.

    Dr. Miller founded the nonprofit Bioethics International and is a member of The World Economic Forum, participating on their Futures Council, Biotechnology Council, and Personalized Medicine Council. Prior to joining Yale’s faculty, she was based at NYU School of Medicine, Duke University, and Harvard University. Her training is in physics, bioethics, business ethics, and regulatory governance.

  • Professor of Medicine (Digestive Diseases) and of Pediatrics (Gastroenterology); Professor of Cellular & Molecular Physiology; Director of Yale Lysosomal Disease Center and Gaucher Disease Treatment Center

    I was born in Kenya and grew up in England. At College I majored in Biochemistry and for my PhD project, I focused on effects of dietary cholesterol on LDL receptor activity in healthy individuals. I was deeply inspired by the research from Brown and Goldstein lab, that set me on path to a career as a physician/scientist doing translational research. My clinical, research and educational activities center around inherited metabolic liver diseases and in particular on Gaucher disease. Yale has provided me with a rich environment to develop a nationally recognized clinical program for Gaucher disease and exciting collaborations that have led to the first authentic conditional KO mouse model of Gaucher disease, first GWAS/WES studies and delineation of metabolic inflammation and neuroinflammation in search for genetic modifiers of this extraordinarily diverse Mendelian disease. In addition, these studies have informed disease pathogenesis and new therapeutic targets for common diseases. I am proud for the opportunity to serve this patient population through membership of the advisory boards of National Gaucher Foundation (USA) and Project Hope's Humanitarian Program for children with Gaucher disease in under-resourced populations.

  • Associate Professor of Genetics and of Neuroscience; Member, Kavli Institute for Neuroscience

    Dr. Noonan received his undergraduate degree in Biology and English Literature (Honors) from Binghamton University in upstate New York. He carried out his graduate work with Dr. Richard Myers in the Department of Genetics, Stanford University, and received his Ph.D. in 2004. He did his postdoctoral work in Dr. Edward Rubin's lab at the Lawrence Berkeley National Laboratory and the U.S. Department of Energy Joint Genome Institute. Dr. Noonan joined the Yale Genetics faculty in September 2007.

  • Professor of Obstetrics, Gynecology and Reproductive Sciences; Section Chief, Maternal-Fetal Medicine

    Dr. Uma Reddy is Professor of Obstetrics, Gynecology and Reproductive Sciences at the Yale School of Medicine and Section Chief of Maternal-Fetal Medicine.

    Dr. Reddy graduated from Brown University Magna cum laude and received her M.D. degree from the Warren Alpert Medical School of Brown University. Dr. Reddy also earned a Masters in Public Health (M.P.H.) from the Johns Hopkins Bloomberg School of Public Health.  She completed her residency in Obstetrics and Gynecology at the Johns Hopkins Hospital and remained there as a Robert Wood Johnson Clinical Scholar.  She completed her Maternal-Fetal Medicine fellowship at Thomas Jefferson University.   She was a faculty member at the University of Maryland School of Medicine prior to joining the National Institutes of Health (NIH) as a Medical Officer in the Pregnancy and Perinatology Branch of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).  During her tenure at NIH, she provided MFM clinical services at Walter Reed Medical Center (Bethesda, MD) and then Medstar Washington Hospital Center (Washington, DC) as a Professor of Obstetrics and Gynecology at the Georgetown University School of Medicine prior to joining Yale in 2018.

    While at NIH, she oversaw many of the largest and most influential studies in obstetrics, including directing the Maternal-Fetal Medicine Units (MFMU) Network which funds multiple clinical trials across the country. Her research on stillbirth as part of the Stillbirth Collaborative Research Network (SCRN), preterm birth and labor management has had a profound impact on obstetrical practice both in the United States and internationally. She received numerous NIH awards for her role in advancing women’s health research agenda nationally.

    Dr. Reddy continues to engage in NIH funded clinical and translational research as the Yale MFM Principal Investigator (PI) for the NIDDK funded U01 “Glycemic Observation and Metabolic Outcomes in Mothers and Offspring (GO MOMs) study.” The goal of GO MOMs is to perform a longitudinal analysis of changes in glycemia (blood sugar levels) over the course of pregnancy.  Dr. Reddy is also Co-PI for NICHD funded R01 “Large scale genome sequencing and integrative analyses to define genomic predictors of recurrent pregnancy loss.” Dr. Reddy is also the Yale site PI for the NHLBI funded Chronic Hypertension and Pregnancy (CHAP) RCT.

    Dr. Reddy is widely recognized as a scholar, educator, and mentor.  Dr. Reddy has been selected to serve as a Member of the American College of Obstetrics and Gynecology (ACOG) Committee on Practice Bulletins – Obstetrics; Fellow of the American Gynecological & Obstetrical Society and was selected as Fellow in Executive Leadership in Academic Medicine (ELAM) Program for Women, 2020-2021 Class.  She has published 250 peer reviewed articles, many in the most impactful journals including NEJM and JAMA. 

    Dr. Reddy is board certified in Obstetrics and Gynecology and Maternal-Fetal Medicine and performs obstetric ultrasound and sees patients at the Long Wharf office in New Haven.  Her expertise is in the management of high-risk pregnancies complicated by prior preterm birth or pregnancy loss as well as maternal conditions such as diabetes, hypertension, and connective tissue disorders such as lupus. 

     

     

  • Assistant Professor; Director of Informatics, Laboratory Medicine; Director, CORE Center for Computational Health, Center for Outcomes Research & Evaluation (CORE)

    Dr. Schulz is an Assistant Professor of Laboratory Medicine and computational health care researcher at Yale School of Medicine. He received his PhD in Microbiology, Immunology, and Cancer Biology and MD from the University of Minnesota. He is the Director of Informatics for the Department of Laboratory Medicine, Director of the CORE Center for Computational Health, and Medical Director of Data Science for Yale New Haven Health System. Dr. Schulz has over 20 years’ experience in software development with a focus on enterprise system architecture and has a research interests in the management of large, biomedical data sets and the use of real-world data for predictive modeling. At Yale, he has led the implementation of a distributed data analysis and predictive modeling platform, for which he received the Data Summit IBM Cognitive Honors award. Other projects within his research group include computational phenotyping and the development of clinical prescriptive models for precision medicine initiatives. His clinical areas of expertise include molecular diagnostics and transfusion medicine, where he has ongoing work assessing the use, safety, and efficacy of pathogen-reduced blood products.

  • Anita O'Keeffe Young Professor of Obstetrics, Gynecology, and Reproductive Sciences and Professor of Molecular, Cellular, and Developmental Biology; Chair of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine; Chief of Obstetrics and Gynecology, Yale-New Haven Hospital

    Dr. Taylor is the Anita O'Keeffe Young Professor and Chair, Department of Obstetrics Gynecology and Reproductive Sciences at Yale School of Medicine and Chief of Obstetrics and Gynecology at Yale-New Haven Hospital. He is also Professor of Molecular, Cellular and Developmental biology at Yale University. His clinical interests include IVF, infertility, endometriosis, implantation, menopause, uterine anomalies and Asherman's syndrome.

    Dr. Hugh Taylor received his undergraduate training at Yale University and received his medical degree from the University of Connecticut School of Medicine. He completed his residency in Obstetrics and Gynecology at Yale. His postdoctoral training included a fellowship in Reproductive Endocrinology and Infertility as well as a fellowship in Molecular Biology, both at Yale.

    Dr. Taylor is a board certified specialist in Obstetrics and Gynecology and in Reproductive Endocrinology. His clinical research centers on endometriosis and fibroids. His basic science research focuses on uterine development, endometriosis, endocrine disruption, and on stem cells. He is a recipient of ten National Institutes of Health research grants and directs The Yale Center for Reproductive Biology. Dr. Taylor has published more than 400 articles and in leading medical journals.  He has served as President of the Society for Reproductive Investigation and will be president of the American Society for Reproductive Medicine in 2021.  He is a member of the National Academy of Medicine.  

  • Assistant Professor

    Serena Tucci is Assistant Professor of Anthropology and Principal Investigator of the Human Evolutionary Genomics Laboratory at Yale University. She is also affiliated with the Department of Ecology and Evolutionary Biology. Dr. Tucci’s research addresses fundamental questions in human evolution and population history using DNA from present-day and ancient humans. Prior to joining Yale, she conducted postdoctoral research at the Department of Genome Sciences at the University of Washington Seattle and at the Lewis-Sigler Institute for Integrative Genomics at Princeton University. She was supported by the Lewis and Clark Fund for Exploration and Field Research from the American Philosophical Society. Tucci received her Ph.D. in Evolutionary and Environmental Biology from the University of Ferrara in Italy, where she was awarded the Young Investigator Fellowship in 2013 and 2015.  

  • Harris Professor in the Child Study Center; Director, Program in Neurodevelopment and Regeneration, Child Study Center; Professor in the Department of Neuroscience

    Flora Vaccarino is the Harris Professor at the Child Study Center and Professor in the Department of Neuroscience at Yale University. She received her MD from the University of Padova in Italy.  She spent few years as Neuropharmacology Fellow at NIH, trained in clinical psychiatry at Yale, and then was a Research Fellow in developmental genetics at the Yale School of Medicine, where she raised through the ranks to Assistant, Associate and full Professor. Vaccarino leads a multidisciplinary research group working towards new directions for the study of mammalian brain development, particularly human, using stem cell biology and genomics as tools. She has been studying brain development in animal models for over 20 years, focusing on the role of growth factor receptor signaling in the regulation of stem cell behavior and cerebral cortex morphogenesis. Inspired by Sasai’s work, Vaccarino and her lab pioneered the generation of 3D brain organoids from induced pluripotent stem cells (iPSCs) in 2012, and showed that they recapitulate early fetal development of the human cerebral cortex.  They then performed an extensive comparison of the organoid’s transcriptome and noncoding elements with isogenic postmortem human fetal cortex and characterized gene regulatory mechanisms that shape the earliest cell fate decisions in human cortical development. Her lab has generated an extensive collection of patient-derived iPSC lines to study altered gene regulatory mechanisms in Autism Spectrum Disorders. Her interests include human somatic genomic variation as a tool to study lineage specification in human embryonic development. She participates to the Brain Somatic Mosaicism Network (BSMN), a multi-site consortium that studies somatic mosaicism and its implication for neuropsychiatric diseases. Vaccarino is a Fellow of American Association for the Advancement of Science and a member of the PsychENCODE and the Brain Somatic Mosaicism Consortia.

  • Assistant Professor of Medicine (Digestive Diseases) and of Pathology; Associate Director, Yale MD-PhD Program, Digestive Diseases

    Silvia Vilarinho is a physician-scientist who uses genetics, genomics and human samples to investigate the molecular basis of various liver diseases of unknown etiology. Using these approaches, we have identified a new mendelian form of non-cirrhotic portal hypertension, a novel bile acid disorder due to ACOX2 deficiency and a new cholestatic disorder due to mutations in KIF12. Our research goal is to discover new genes important in liver function both in health and disease and to use cell biology and animal models to determine the specific mechanism(s) linking mutant gene to disease, with potential diagnostic, therapeutic and prognostic applications.

  • Department Chair and Ira V. Hiscock Professor of Biostatistics, Professor of Genetics and Professor of Statistics and Data Science

    Dr. Hongyu Zhao is the Ira V. Hiscock Professor of Biostatistics and Professor of Statistics and Data Science and Genetics, Chair of the Biostatistics Department and the Co-Director of Graduate Studies of the Inter-Departmental Program in Computational Biology and Bioinformatics at Yale University. He received his B.S. in Probability and Statistics from Peking University in 1990 and Ph.D. in Statistics from the University of California at Berkeley in 1995. His research interests are the developments and applications of novel statistical methods to address scientific questions in genetics, molecular biology, drug developments, and precision medicine.

    Some of his recent projects include large scale genome wide studies to identify genetic variants underlying complex diseases, genetic risk prediction, single cell analysis, biological network modeling and analysis, disease biomarker identification, genome annotation, cancer genomics, microbiome analysis, and image analysis. He has published over 580 articles in statistics, human genetics, bioinformatics, and proteomics, and edited two books on human genetics analysis and statistical genomics. He has trained over 80 doctoral and post-doctoral students, many of whom are holding tenured or tenure-track positions at major universities in the states and overseas.

    Dr. Zhao was a Co-Editor of the Journal of the American Statistical Association Theory and Methods, and has served on the editorial boards of several leading statistical and genetics journals. He was the recipient of the Mortimer Spiegelman Award for a top statistician in health statistics under the age of 40 awarded by the American Public Health Association and the Pao-Lu Hsu Award from the International Chinese Statistical Association. His research has also been recognized by the Evelyn Fix Memorial Medal and Citation by UC Berkeley, a Basil O'Connor Starter Scholar Award by the March of Dimes Foundation, election to the fellowship of the American Association for the Advancement of Science, the American Statistical Association, the Institute of Mathematical Statistics, and Connecticut Academy of Science and Engineering.