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    • Ira Hall, PhD

      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.
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    • Whitney Besse, MD

      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.
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    • Kristen Brennand, PhD

      Elizabeth Mears and House Jameson Professor of Psychiatry; Co-director, Science Fellows Program

      Kristen Brennand, PhD is the Elizabeth Mears and House Jameson Professor of Psychiatry and Professor of Genetics at Yale University School of Medicine. She first established her independent laboratory in the Pamela Sklar Division of Psychiatric Genomics at the Icahn School of Medicine at Mount Sinai in 2012, after having completed post-doctoral training at the Salk Institute for Biological Studies and PhD studies at Harvard University. Dr. Brennand’s research combines expertise in genomic engineering, neuroscience, and stem cells, to identify the mechanisms that underlie brain disease. Her focus lies in resolving the convergence of, and complex interplay between, the many risk variants linked to disease, towards the goal of facilitating the clinical translation of genetic findings.  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.
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    • Martina Brueckner, MD

      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.
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    • Keith Choate, MD, PhD

      Associate Dean for Physician-Scientist Development and Professor of Dermatology, Pathology and Genetics; Chair, 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.
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    • Elizabeth Claus, PhD, MD

      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.  Claus launched the International Low-Grade Glioma (LGG) Registry in 2016 to discover why some people develop LGG, a slow growing but malignant brain tumor primarily affecting young adults, while others do not. The goal of the registry is also to learn more about the effect of this diagnosis and the associated treatments on daily life including the ability to work, drive, sleep, exercise, or take care of oneself and/or a family member. Recently Dr. Claus and a team of fellow scientists received funds from the National Cancer Institute to investigate the molecular evolution of LGG. The project, OPTimIzing engageMent in discovery of molecular evolution of low grade glioma” or OPTIMUM, will enroll 500 participants diagnosed with LGG and who have had two or more surgeries for their glioma and genotype these tumors to establish a comprehensive genomic characterization of the glioma tumors across time.
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    • Chris Cotsapas, PhD

      Professor of Neurology; Professor of Genetics, 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.
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    • Guido Falcone, MD, ScD, MPH

      Associate Professor Term; Staff Neurointensivist, Neurology; Director of Clinical Research in Neurocritical Care, Neurology; Training Director, Yale/AHA Bugher Center for Intracerebral Hemorrhage Research, 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.
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    • Joel Gelernter, MD

      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), depression, and panic and other anxiety disorders. He also studies a range of related phenotypes, including pharmacogenomics; 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, cannabis, 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.
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    • Peter Gershkovich, MD, MHA

      Associate Professor of Clinical 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 is interested in clinical systems engineering, information visualization, DNA sequencing analysis, NLP, and full-text search of clinical data. He is currently focusing on how to better assemble, compile, and deliver relevant information at the point where a clinical decision needs to be made. The underlying philosophy in his software development is pragmatic reasoning which typically leads to the development of working systems that have meaningful impact on clinical care. The systems developed by his engineering group integrate into the daily workflow of the Pathology Department improving quality and efficiency of patient care and clinical operations.   At the onset of 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 impactful workflow reengineering in medicine.
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    • Mark Gerstein, PhD

      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 an 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 and in 2003 became co-director of the Yale Computational Biology and Bioinformatics Program. Gerstein has published appreciably in the scientific literature, with an H index of ~185 and >600 publications in total, including a number of them in prominent venues, such as Science, Nature, Cell, and Scientific American. His research is focused on biomedical data science, and he is particularly interested in machine learning, macromolecular simulation, human genome annotation & disease genomics, and genomic privacy.
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    • Antonio Giraldez, PhD

      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- ).
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    • Jeffrey R Gruen, MD

      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
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    • Caroline Hendry, PhD

      Scientific Director and Advisor to the Chair

      Caroline is the Scientific Director and Advisor to the Chair of Genetics at Yale School of Medicine. 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, specialising in stem cells and reprogramming. 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. Caroline was recruited to Yale in 2018 where she is responsible for increasing the scientific impact of the Department of Genetics by leveraging new opportunities for innovation and discovery across basic and clinical genetics. To support this goal, Caroline maintains a strong leadership position in the Department of Genetics and also leads an Office for Strategic Research Development comprised of additional faculty and trainees. A key aspect of the role is to foster interactions with Genetics faculty and other key stakeholders in genetics and genomics to develop and implement the scientific vision of the department and create strategic collaborations across Yale School of Medicine, Yale University, and industry. The role also provides leadership in driving new projects and programs to further the Department's mission and to translate existing research into new opportunities for growth.
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    • Laura Huckins, PhD

      Associate Professor of Psychiatry

      Dr. Laura Huckins is an Associate Professor in the Department of Psychiatry. She received her masters in BioEngineering from Imperial College London in 2011, and her PhD in Molecular Biology and Psychiatric Genetics from the University of Cambridge in 2015. Her research focuses primarily on studying psychiatric disorders, with an emphasis on eating disorders and PTSD, as well as development and application of multi-omic methods to interpret the functional consequences of GWAS variants. Her lab focuses particularly on Eating Disorders and PTSD; to this end, she is co-chair of the PGC Eating Disorders working group.Dr. Huckins' work is funded by the Klarman Family Foundation, the National Institute of Mental Health, and the National Institute of Environmental Health Sciences.
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    • Yong-Hui Jiang, MD, PhD

      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.
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    • Mustafa Khokha, MD

      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 phenotypes in just three days.Traditionally gene discovery in these patients was very challenging, but now not only is candidate gene discovery efficient but we can rapidly model the human disease and understand gene function in model organisms or patient cells.
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    • Smita Krishnaswamy, PhD

      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.
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    • Harlan Krumholz, MD, SM

      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. He is a leading expert in the science to improve the quality and efficiency of care, eliminate disparities and promote equity, improve integrity and transparency in medical research, engage patients in their care, and avoid wasteful practices. 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 is director of the Yale New Haven Hospital Center for Outcomes Research and Evaluation (CORE), an organization dedicated to improving health and health care through research, tools, and practices that produce discovery, heighten accountability and promote better public health and clinical care. He co-founded and co-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 also co-founded and co-leads medRxiv, a non-profit preprint server for the medical and health sciences. He was a founding faculty co-director of the Yale Center for Research Computing.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 Award of Meritorious Achievement and their Clinical Research Prize. 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. He founded the American Heart Association’s Quality of Care and Outcomes Research Council and co-founded 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 editor of Journal Watch Cardiology of the New England Journal of Medicine. He was a founding Governor of the Patient-Centered Outcomes Research Institute.He is a co-founder of HugoHealth, a patient-centric platform to engage people as partners in research and clinical care, facilitate the secure acquisition and movement of digital health data, and promote learning health communities. He is a co-founder of Refactor Health, an enterprise healthcare AI-augmented health 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 Yale National Clinician Scholars Program. Dr. Krumholz has published more than 1000 articles and three books and has an h-index of more than 200.
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    • Monkol Lek, PhD

      Assistant Professor of Genetics

      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.
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    • Bluma Lesch, MD, PhD

      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.
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    • Peining Li, PhD

      Associate Professor of Genetics; Co-Director, Fellowship in Laboratory Genetics and Genomics; Director, Cytogenetics Lab

      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.
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    • Chen Liu, MD, PhD

      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.
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    • Carrie L Lucas, PhD

      Associate 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.
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    • Shrikant Mane, PhD

      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.
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    • Arya Mani, MD, FACC, FAHA

      Robert W Berliner Professor of Internal Medicine (Cardiology) and Professor of Genetics; Director, Cardiovascular Genetics Program; Director, Cardiovascular Module

      My laboratory is engaged in system biology approaches to investigate cardiovascular diseases. We leverage modern techniques of functional genomics, epigenetics, transcriptomics,  proteomics,  gene editing and model-driven experimentation to understand the underlying causes of atherosclerosis and metabolic syndrome and discover therapeutic targets. Our work involves population and family-based genetic studies, high throughput sequencing to identify disease genes, with a focus on coronary artery disease (CAD) and metabolic syndrome (MetS). We then proceed to characterize the identified genes in vivo and in vitro. By recruiting more than thousand kindreds with early onset CAD and multiple metabolic risk factors for genetics and metabolic studies we have been able to map, identify and characterize a dozen of human disease genes for CAD and MetS, which have been reported in leading journals such as  Nat Genet, Science, NEJM, Cell Metab, JCI, PNAS, AJHG, etc. We were the first group to show the role of Wnt signaling in atherosclerosis and the first to establish a genetic link between exocrine and endocrine pancreas in pathogenesis of diabetes. Most recently, we have established techniques of high throughput gene editing and multiple parallel reporter assays in my laboratory and have successfully mapped the regulatory landscape of a number of GWAS disease genes.  Subsequent molecular and physiological studies in human mutation carriers and animal models have allowed us to unravel novel functions of the identified genes, to delineate their cognate pathways and to discover new targets for pharmaceutical intervention. These groundbreaking achievements have made us one of the leading laboratories in investigation of metabolic syndrome. We have developed expertise in in vivo investigation of lipid and glucose metabolism, insulin secretion and sensitivity, and vascular biology and in human physiological studies, leading to discovery of attractive drug targets that have been either patented or being investigated for their utility in treatment of fatty liver disease and diabetes in 2 clinical trials in the outlier populations of Fars/Iran. One of our groundbreaking discoveries was the identification of founder mutations in the DYRK1B gene, underlying atherosclerosis, metabolic syndrome, and fatty liver disease. The encoded protein is upregulated in human steatosis (NASH). Our studies in mice have shown that this upregulation results in mTOR activation, lipogenesis and development of NASH and dyslipidemia. Strikingly, knockdown of Dyrk1b is protective against these traits, motivating further investigations to characterize the protein as an attractive therapeutic target. One of our recent groundbreaking discoveries was the identification of novel loss of function mutations in a gene encoding the pancreatic exocrine elastase Cela2a in patients with diabetes, CAD and MetS traits, including obesity, hypertension, hypertriglyceridemia, NAFLD (OMIM: AOMS4). The characterization of this protein in vivo has shown that it widely expressed in different tissues and circulates in the blood, its levels rise after food intake in humans and stimulates insulin secretion and sensitivity and inhibits platelet aggregation. We are now fully characterizing this protein and evaluating its utility as a drug target for diabetes, dyslipidemia, and fatty liver disease. These discoveries are the results of lengthy and high risk studies, which would have not been accomplished without the R35 grant mechanism and the hard work and devotion of students, residents , fellows and visiting scholars in my laboratory, many of whom have gone to establish their own labs, or join the industry. Alone 7 former lab members have joined academia over the past 5 years and 11 a pursuing a career in research as trainees.
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    • Jennifer Ellen Miller, PhD

      Associate Professor of Medicine (General Medicine); Director, Good Pharma Scorecard; Board President, Bioethics International; Advisory Board Member, Global Healthcare Innovation Management Center, Graduate School of Business; 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 Associate Professor in Yale School of Medicine; Director of the Good Pharma Scorecard (an index that ranks pharmaceutical companies on their bioethical performance); and Founder of the nonprofit Bioethics International.  Her current research focuses on ethics, equity and governance in drug, vaccine and medical device research, development, and delivery as well as in healthcare data sharing. She also specializes in developing and using metrics to enhance accountability and social responsibility in biomedical innovation.  Prior to joining Yale’s faculty, she was an Assistant Professor (tenure track) in NYU School of Medicine and completed training in physics, regulatory governance, bioethics, and ethics at Fordham University, Duke University, Regina Apostolorum Pontifical University, and Harvard University.
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    • Pramod Mistry, MBBS, PhD, MA, MD

      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.
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    • James Noonan, PhD

      Albert E. Kent Professor of Genetics and Professor of Neuroscience; co-Director of Graduate Studies, Genetics

      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.
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    • Uma Reddy, MD, MPH

      Professor Adjunct of Obstetrics, Gynecology & 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.
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    • Steven Reilly, PhD

      Assistant Professor of Genetics

      Steven Reilly received his B.S. in Biology from Carnegie Mellon University in 2009. Motivated by the rapid emergence of new technologies to map the full epigenomes, he joined Jim Noonan's Lab in the Genetics Department of Yale School of Medicine. There he built gene regulatory maps of the developing human, rhesus, and mouse cortex to identify changes underlying unique aspects of human brain morphology and cognitive abilities. Steve received his Ph.D. in 2015 and then joined the laboratory of Pardis Sabeti at the Broad Institute of Harvard and MIT to interrogate the function of genetic variants at the intersection of natural selection and human disease. As evolutionary adaptive genetic variants have been shown to underlie diversity in disease risk and morphology across human populations, the lens of evolution remains a powerful, yet underutilized method for understanding human biology He is specifically interested in furthering our understanding of non-coding variation, the main cache of human genetic diversity. The has created novel machine-learning methods to predict the subset of human variants under selection that are functional, and experimental methods to characterize variants in a massively parallel fashion. Steve has developed endogenous CRISPR perturbation methods and synthetic DNA technologies coupled with genomic readouts to directly assess the cellular phenotypes of non-coding alleles. Steve joined the Yale Department of Genetics as an Assistant Professor in September, 2021.  The Reilly lab develops and applies new high-throughput experimental approaches to interrogate the genome, such as non-coding CRISPR screens and the Massively Parallel Reporter Assay. Computationally, we also develop machine-learning approaches to predict the functions of these CRE perturbations.  Together with these new tools, we use evolution as a powerful lens for characterizing genomic signals of positive selection that impact modern human phenotypes and diseases. The lab has three main foci: Developing new, large-scale experimental screens to perturb CREs, and new computational tools to model their functionIdentifying evolutionary adaptive alleles likely impacting modern human phenotypesApplying these functional genomic tools to phenotypically interesting loci important for human disease and evolution.
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    • Wade Schulz, MD, PhD

      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 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.
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    • Hugh Taylor, MD

      Anita O'Keeffe Young Professor of Obstetrics, Gynecology, and Reproductive Sciences and Professor of Molecular, Cellular, and Developmental Biology; Chair, Obstetrics, Gynecology & Reproductive Sciences; 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 president of the American Society for Reproductive Medicine in 2021.  He is a member of the National Academy of Medicine.
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    • Serena Tucci, PhD

      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.
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    • Flora Vaccarino, MD

      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.
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    • Silvia Vilarinho, MD, PhD

      Assistant Professor of Medicine (Digestive Diseases) and of Pathology; Associate Director, Yale MD-PhD Program; Associate Director, Internal Medicine Physician Scientist Training Program

      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 five novel genetic liver diseases. Our research goal is to continue 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 as a roadmap to further understand and treat rare and common liver diseases.
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    • Hongyu Zhao, PhD

      Ira V. Hiscock Professor of Biostatistics, Professor of Genetics and Professor of Statistics and Data Science; Affiliated Faculty, Yale Institute for Global Health

      Dr. Hongyu Zhao is the Ira V. Hiscock Professor of Biostatistics and Professor of Statistics and Data Science and Genetics. 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, image analysis, and wearable device data analysis. He has published over 650 articles in statistics, human genetics, bioinformatics, and proteomics, and edited two books on human genetics analysis and statistical genomics. He has trained over 100 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 has served as an editor and/or associate editor of leading statistical and genetics journals, including as a Co-Editor of the Journal of the American Statistical Association Theory and Methods and a co-Editor of Statistics in Biosciences. 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.
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