Biology, Genetics, and Medicine

Sequencing of the human genome was not the endpoint of our goal in understanding human genetics. The chemical modifications to DNA and histones, as well as the chemical interactions involving the manufacture of proteins, represents a second level of human genetics termed epigenetics or epigenomics. Epigenetics refers to the study of heritable changes in gene expression that occur without a change in DNA sequence. Research has shown that epigenetic mechanisms provide an additional layer of transcriptional control that regulates how genes are expressed. Epigenetic abnormalities are associated with genetic disorders, cancer, autoimmune diseases, aging and pediatric syndromes, among others.

Bio-techniques, a three-week credit bearing training course, consists of online and hands-on laboratory components. The course examines the fundamental concepts underlying biomedical science as well as principles and methods of scientific techniques commonly used in molecular biology labs. Additionally, during the 5-day lab sessions, students will practice some of these techniques and learn when and how to apply these techniques when designing their own experiments.

Online: Basic concepts of molecular and cell biology; Principles and methods of experimental techniques used in a molecular biology laboratory

Laboratory: general lab safety, pipetting, microscope, mammalian cell culture, molecular cloning, bacterial transformation, nucleic acids and protein isolation, polymerase chain reaction, transfection, SDS-PAGE and Western blotting, bioinformatics tools

The goals of the course are to describe the characteristics of the major cellular macromolecules; explain the structure and function of major cellular components; build and hone critical thinking skills; gain a working knowledge of practical scientific techniques commonly used in a molecular biology research lab; and Brainstorm experimental design and best practices for technique applications

Students will earn 4 graduate credits through the FAES Academic Programs after successful completion of the course.

This workshop will focus on the general principles of genome editing protocols, including design, choice of format, delivery, efficiency, specificity, clonal isolation, genotyping, and validation. The second part of the workshop will address different applications including genome editing in mice, zebrafish, and iPS cells, disease modeling, generation of reporter lines, and high throughput approaches. We will discuss strategies to make CRISPR gene editing more efficient, flexible, and specific. We will explore recent advances in the CRISPR field including base editors and epigenome editing. We will also examine sequencing and quality control considerations for genome editing projects. Hands-on laboratory exercises will accompany the lecture material to provide practical training in design, assembly, transfection, and detection/evaluation steps of a typical genome editing workflow.

This course examines the fundamental concepts underlying biomedical science, including the structure and function of biomolecules, such as proteins, enzymes, carbohydrates, lipids, and DNA, as well as the structure and function of cellular components, such as membranes, vesicles, organelles, and the cytoskeleton. This course is designed for students who may have previously studied biology but need a refresher on the main concepts in biomedical science as well as students without a science background who wish to gain a foundation in basic biological mechanisms.

This course continues the exploration of the fundamental concepts underlying biomedical science, including DNA replication, transcription, translation, signal transduction mechanisms, apoptosis, the cell cycle, and cancer. This course is designed for students who may have previously studied biology but need a refresher on the main concepts in biomedical science as well| as students without a science background who wish to gain a foundation in basic biological mechanisms and is a continuation of Foundations in Biomedical Science I.

Research experience is a significant advantage for students hoping to obtain internships, fellowships, undergraduate admission, or graduate/professional school admission. This course will serve as a first introduction to research, covering basic scientific knowledge and best-practices for impactful research. This course will also include seminars/lectures from prominent scientists, including those from underrepresented groups in STEM fields. By the end of the course, students will have proposed and designed a research project. Successful completion of this course will increase preparedness for research opportunities and increase the quality of applications submitted to various educational programs.

The human genome is the DNA book of life, containing information to create networks of proteins that construct a human being. The course discusses how the genome was read, how variants in DNA information are detected, and how this information changes views of disease, medical treatments, and our image of ourselves as a species. Through an historical perspective, students will discover the role of DNA, RNA, and proteins as the molecules of life and explore some of the most current applications of molecular biology and biochemistry to biomedical research, forensic analyses, and molecular anthropology. Students will be provided with the basic scientific foundations necessary to understand the vast impact of biotechnology on modern society. The class format will combine lectures with case-studies discussions, presentations, and screenings of media. Students are required to actively search media and scientific sources to find recent breaking news pertinent to the field. Each week will feature a critical discussion based on a specific topic.

This course will address the biology, function, and expression of non-coding RNAs, including microRNAs, long noncoding RNA, and circular RNAs. It will address exosomes in the light of these non-coding RNAs. The course will also highlight the involvement of non-coding RNAs and exosomes in human diseases as well as the potential treatment with RNA therapeutics. The objective of this course is to provide an overview of cutting-edge scientific knowledge to researchers who need to understand this fast-emerging field and who plan to investigate non-coding and exosomes. Classes will cover different aspects of non-coding RNAs and exosomes from the perspectives of molecular biology, their role in diseases and RNA therapeutic implications as well as reference databases for data mining. By the end of the course, students should be able to discuss basic science, the disease biology of non-coding RNAs and exosomes; students should also gain knowledge of technology approaches suitable for their research projects.

This course is designed to help students gain an appreciation of essential scientific approaches and techniques in studying various human diseases and biological disorders. A variety of techniques are discussed, including molecular, cellular, biochemical, genetic, imaging, computational, and high-throughput screening approaches. Students will learn applications and recent advances for each approach as well as gain a historical perspective on the development of each technique. Emphasis will be placed on the appropriate application of each technique, with a focus on the exploration of the progression and therapeutic effects of treatments to various diseases. The course provides individuals of all backgrounds and levels of experience with the opportunity to become knowledgeable in a wide variety of scientific approaches in biomedical research.

This course is specifically designed for students who have limited knowledge in molecular biology and biotechnology.The course will develop and equip students with a strong foundation in molecular biology, genomics, and molecular bioengineering in a changing world of biotechnology. It focuses on: 1) fundamental principles of molecular biology and genomics; and, 2) application of recombinant DNA technologies in gene therapy, vaccine development as well as genetically modified agricultural products. Topics covered will include: basic structure and organization of the prokaryotic and eukaryotic genome; mechanisms of DNA replication; gene transcription and protein translation; chromatin structure and function; post-translational regulation; epigenetics; DNA-protein interaction dynamics, and regulation of gene expression by different types of RNA. Faculty will present real-life examples to explain how gene cloning, plasmid construction, site-directed mutagenesis, DNA sequencing, genome editing, gene-expression profiling, are conducted in order to solve biological problems. At the end of this course, students will gain an understanding of how life works at the molecular level and gain knowledge of cutting-edge biotechnological application in research, medicine, and industry.

This course will use a systems neuroscience approach to understanding the relationship between the structure and function of the human brain. Course material will span the level of cellular neurophysiology of neurons and synaptic signaling to circuits and brain regions involved in sensory processes, motor function, emotion, attention, and learning and memory. Neuroanatomy will be emphasized throughout the course. Deviation from normative structure and function will be considered through clinical case studies and translational research. Although the focus of this course will be the human brain, research from animal models, particularly non-human primates and rodents, will be included in the investigation of neuronal mechanisms.

This course will use a systems neuroscience approach to understanding the relationship between the structure and function of the human brain. Course material will span the level of cellular neurophysiology of neurons and synaptic signaling to circuits and brain regions involved in sensory processes, motor function, emotion, attention, and learning and memory. Neuroanatomy will be emphasized throughout the course. Deviation from normative structure and function will be considered through clinical case studies and translational research. Although the focus of this course will be the human brain, research from animal models, particularly non-human primates and rodents, will be included in the investigation of neuronal mechanisms.

This course covers the molecular mechanisms that regulate vertebrate embryonic development. Discussions range from conserved evolutionary processes to defects and genetic mutations in human development and disease. Specific topics include: cell-cell interactions; organogenesis; brain, cardiovascular and limb development; stem cell generation, maintenance and migration; cloning and genetic manipulations; epigenetic modification and system biology. Each class will include discussions of current literature, with emphasis on processes and mechanisms of development. This course is suitable for students preparing to pursue careers in research, medicine, and/or health, Fellows studying mouse models with developmental defects, and those wishing to expand their understanding of growth and development of complex organisms. Students will have opportunities to read, evaluate, and discuss critically research articles.

This course explores a wide range of cellular neuroscience, including: membrane biophysics and action potentials; ion channels; synaptic transmission and plasticity; dendritic integration and computation. Lectures also introduce techniques used to record and image activity and signaling in neurons as well as quantitative methods used to analyze experimental data. The course also features in-depth discussions of classic and current literature, with problem sets and exams to enhance and test the understanding of lecture materials.

This course explores a wide range of cellular neuroscience, including: membrane biophysics and action potentials; ion channels; synaptic transmission and plasticity; dendritic integration and computation. Lectures also introduce techniques used to record and image activity and signaling in neurons as well as quantitative methods used to analyze experimental data. The course also features in-depth discussions of classic and current literature, with problem sets and exams to enhance and test the understanding of lecture materials.

Connective tissues such as bone, cartilage, tendons, ligaments, basement membrane, skin, teeth, fat and blood are crucial for providing structural support and contextual cues that sustain proper function of other tissues and organs in the body. The purpose of this course is to provide students with a framework for understanding these tissues, their cellular and extracellular interactions and their roles in organs commonly studied in biomedical research. The course will review pathologies of connective tissues and discuss how biomaterials interact with tissues for use in regenerative medicine. This course incorporates fundamentals of biochemistry and cell biology to understand the structure, function, pathology, and repair mechanisms of connective tissues.

The process of aging is fascinating because it is one that we all expect to experience, if we are fortunate. It is natural to wonder if the decline of aging can be avoided. Through research into the biological underpinnings of the aging process, scientists are beginning to understand how aging may be evolutionarily programmed, including the cellular pathways that promote it. In this course, students will discuss these exciting findings. With an emphasis on primary literature and discussion, students will critically consider factors that affect the aging process. The course will also touch on mechanisms behind diseases associated with aging, such as Alzheimer’s disease and Parkinson’s disease. Finally, the course will review prospects for the extension of healthy lifespan in humans.

Everything you know was gained through the efforts of several memory systems working together to acquire knowledge and skills from your past experiences. Not only is memory is necessary for all other human cognition, from remembering how to ride a bike or reflecting on your undergraduate days to acquiring language or making decisions about the future, but collectively our memories allow us to form a learned identity. This course will provide a broad introduction to foundational concepts and classic and current issues in human memory, examining both the psychological and neurological approaches to data and theory. Topics covered include working memory, episodic encoding and retrieval processes, forgetting and false memories, skill learning, implicit learning, and the effects of aging and disease on memory systems.

RNA interference (RNAi) is the process of inhibition of gene expression by RNA molecules. The mechanism for RNAi in prokaryotes and eukaryotes was evolutionarily developed as defense against pathogen invasion. CRISPR, Clustered Regularly Interspaced Short Palindromic Repeats is a similar defensive mechanism found in certain bacteria. Detailed understanding of their molecular mechanism enabled adaptation of these as tools for down regulating specific gene expression in mammalian cells. This course is designed to provide a deeper understanding of RNA interference and CRISPR and their applications in different fields of biology.

Advances and Applications in Developmental Biology will employ current and cutting-edge medical and research publications to explore the principles of developmental biology. Together we will discuss how these publications are rooted in lessons from developmental biology but apply those lessons at a high level to medically relevant research. Each week we will include a lesson on the historical context and advances in developmental biology that have led us to the current point. We will then discuss the significance of current research, its place in the field, and what contributions it makes to developmental biology as well as medical science as a whole.

The objective of this graduate-level course is to provide an overview of the biological basis of major neuropsychiatric disorders as well as to explore the emerging methodologies (both basic sciences and clinical) utilized in the study of these brain disorders. A group of leading scientists and clinicians has been recruited to provide lectures in their areas of expertise. Disorders to be covered include: bipolar disorder; major depression; anxiety disorders; schizophrenia; autism; and, substance dependence. Speakers will discuss the evidence supporting current theories related to each disorder, with particular emphasis on the limitations of current diagnostic systems and methodologies, the prospects for the greatest advances, and their individual contributions to the field. Additionally, specific lectures will focus on methodologies that are rapidly having a major impact on neuroscience research as well as advancing our understanding of neural function, disease mechanisms, diagnostic systems, biomarkers, and drug discovery and development. Areas to be discussed will include: positron imaging tomography; magnetic resonance imaging (functional and structural); animal models; biochemical techniques; genetic and epidemiological analysis; and, statistical modeling. Students enrolled in the course will be expected to develop an understanding of the advanced techniques used to study these illnesses and pathways to develop new treatments.

Designed for entomology, biology, veterinary, and medical students, this course is an introduction to the natural history of the major groups of the Phylum Arthropoda that directly or indirectly impact the health of humans, pets, and livestock. Classes will cover the life- cycles of arthropods and parasites, clinical signs and symptoms of disease, disease epidemiology, and approaches to control of arthropod-borne diseases with an emphasis on vector control. Recent advances in the field of medical/veterinary entomology research and case studies will be discussed. Guest lecturers will share their expertise with the students.

This course covers the new field of inquiry of stem cells, in recognition of the role that stem cells play in the post-embryonic phase of life. The course will also examine current understanding of the working of the stem cells in embryogenesis. This course will address, both from the theoretical and practical perspectives, the question of self-renewal, pluripotency, immortal strand synthesis as well as the nature and reasons for differential routes of differentiation into various tissue types. For example, the idea of ‘context’ will be discussed as will the realization that the microenvironment (the stem cell nitch) plays an important role in fate determination. The class will also discuss the problems around whether induced pluripotent cells—a technical achievement—can be useful for tissue regeneration and therapeutics.

There is an increased interest in purifying, identifying and engineering extracellular vesicles for both research and therapeutic benefits. Until now, there is no single method that can give the maximum yield with high purity level needed for mass production. There are numerous methodologies available to isolate and analyse these vesicles. This course aims to provide the basic understanding of extracellular vesicles (EV) a term that includes exosomes, microvesicles, oncosomes, and many others. It will introduce participants to the basics, pros and cons of different methods implemented in the purification, quantification, and validation/characterization of extracellular vesicles. It covers areas such as EV biogenesis, cargo, and different release and uptake mechanisms. Also, the course will touch base on the different research and therapeutic strategies used to understand the role of these vesicles in health and disease. The course is divided into 7 weeks.

This course teaches key concepts of evolutionary genetics, using a historical framework. Class discussions will use historical examples from the literature, primary and review literature, modern and historical, with each class session focusing on progressively modern material. The course will start with Charles Darwin’s theory of evolution: selection, variation, and the historical background of selective breeding and heredity. Subsequent classes will cover population genetics and the modern evolutionary synthesis, chromosomal theory and the central dogma of molecular biology as well as phylogenetics, diversity, and common descent. Molecular genetics will be introduced in the context of bacterial gene regulation and gene regulatory networks. The course will end with a discussion on genomics, post-genomics, and epi-genomics. Student assignments will include an essay about a specific topic on breeding and heredity, a presentation about traits or diseases associated with cytogenetic abnormalities or the research of a modern synthesis contributor, and a descriptive report about a disease-causing gene and its genomic setting. At the end of the course, students will understand how the paradigms of evolution and genetics have advanced since Darwin and will be able to discuss our modern-omics- oriented understanding of heritable disease and evolution in its historical context.

The objective of this two-semester course is to provide an introduction to clinical and human genetics for Fellows and genetic counseling students who are preparing for subspecialty examinations of the American Board of Medical Genetics and for others who wish to learn about the expanding role of genetics in medicine. The first semester will introduce basic concepts of genetics, cytogenetics, and molecular genetics. The second semester will include presentations on clinical topics emphasizing the diagnosis and management of patients with genetic disorders. This course is designed for Fellows and genetic counseling students who are preparing for subspecialty examinations of the American Board of Medical Genetics and others who wish to learn about the expanding role of genetics in medicine.

This is the first part of a two-part course. Registration is required separately for each part of the course.

The objective of this course is to familiarize students with modern developmental biology and to use this knowledge to understand common human malformations. The course will begin with lectures on the methodology and model systems of developmental biology, a review of preimplantation development and gastrulation, and embryogenesis/organogenesis. Subsequent lectures will focus on the development of several organ systems (e.g. central nervous system, cardiovascular, limb, urogenital, gut/respiratory, and craniofacial). These systems will be covered in two lectures each. A closing lecture on developmental pleiotropy will round out the course.

The objective of this course is to address the psychological, clinical, social, and ethical issues in genetic counseling (GC). This class offers a dynamic forum for discussion, focusing on genetics counseling research, policy and education, and their impact on clinical practice. A diverse group of professionals present topics well suited for class discussions. Student-led case presentations and discussions highlight pertinent psychological, social, and ethical issues in genetic counseling. Clients who have had personal experiences with a genetic condition or risk expose students to a variety of attitudes, reactions, and experiences. Students enrolled in related graduate programs are encouraged to enroll to maximize the opportunity for exchange among disciplines. This course presents an opportunity to college graduates interested in genetic counseling to learn about the theoretical and practical aspects of the profession.

This is a required course for graduate students enrolled in the JHU/NHGRI Genetic Counseling Training Program. Tuition: $500 per credit.

The objective of this course is to address the psychological, clinical, social, and ethical issues in genetic counseling (GC). This class offers a dynamic forum for discussion, focusing on genetics counseling research, policy and education, and their impact on clinical practice. A diverse group of professionals present topics well suited for class discussions. Student-led case presentations and discussions highlight pertinent psychological, social, and ethical issues in genetic counseling. Clients who have had personal experiences with a genetic condition or risk expose students to a variety of attitudes, reactions, and experiences. Students enrolled in related graduate programs are encouraged to enroll to maximize the opportunity for exchange among disciplines. This course presents an opportunity to college graduates interested in genetic counseling to learn about the theoretical and practical aspects of the profession.

This is the second part of a two-part course. The completion of the first part (prerequisite) is required before taking the second part. Registration is required separately for each part of the course.

This is a required course for graduate students enrolled in the JHU/NHGRI Genetic Counseling Training Program. Tuition: $500 per credit.

The objective of this course is to provide a review of molecular diagnosis of common hereditary or neoplastic disorders for which DNA-based diagnosis is now in routine use. Topics include FGFR3 disorders, fetal blood typing, thrombophilias, hemochromatosis, fragile X syndrome, polyglutamine disorders, hereditary breast cancers, Charcot Marie Tooth and spinal muscular atrophy, PraderWilli and Angelman syndromes, mitochondrial diseases, Duchenne and Becker muscular dystrophy, cystic fibrosis, and Smith-Lemli-Opitz Syndrome. Sessions also include genetic risk prediction, using linkage and Bayesian analysis as well as DNA forensics and paternity testing. The course is designed as part of the required curriculum for Clinical Genetics residents and Fellows preparing for the Clinical Molecular Genetics Boards given by the American Board of Medical Genetics.

The objective of this course is to discuss how advances in genetics have impacted genetic disorders, from their diagnosis to treatment, by building upon the foundations learned in GENE 500. Topics include Smith-Lemli-Opitz syndrome, Rasopathies, neurocutaneous syndromes, muscular dystrophies, cohesinopathies, connective tissue disorders, ciliopathies, and psychosocial and genetic counseling issues in the era of genomic medicine. The course is designed as part of the required curriculum for residents, Fellows, and students preparing for the Genetics Certification Boards given by the American Board of Medical Genetics and the American Board of Genetic Counseling.

This is the first part of a two-part course. Registration is required separately for each part of the course.

The objective of this course is to discuss how advances in genetics have impacted genetic disorders, from their diagnosis to treatment, by building upon the foundations learned in GENE 500. Topics include Smith-Lemli-Opitz syndrome, Rasopathies, neurocutaneous syndromes, muscular dystrophies, cohesinopathies, connective tissue disorders, ciliopathies, and psychosocial and genetic counseling issues in the era of genomic medicine. The course is designed as part of the required curriculum for residents, Fellows, and students preparing for the Genetics Certification Boards given by the American Board of Medical Genetics and the American Board of Genetic Counseling.

This is the second part of a two-part course. The completion of the first part (prerequisite) is required before taking the second part. Registration is required separately for each part of the course.

The course will cover basic and advanced concepts in cancer genomics and will address practice guidelines created and adopted by authoritative resources such as ACMG, AMP, ASCO and NCCN. The major focus will be on the applications of cytogenetic and molecular genetics in the diagnosis, prognosis and therapeutics. The didactic and core lectures will be supplemented by clinical case discussion in germline genetics, hematopathology and solid tumors.

The gene expression programs that instantiate eukaryotic cell states are complex and dynamic, but ultimately essential to understanding development, homeostasis, real-time environmental adaptation and cellular dysregulation. This course will aim to equip you with a broad range of tools for analyzing gene expression and elucidating the regulatory influences affecting it. By the end, students will have an appreciation for the many layers of expression regulation and a familiarity with common methods for analyzing gene expression and its regulation that will enable interpretation of such results in the literature and the ability to choose the right tool for answering their own gene expression-related research questions in the future.

Tuition: $1,100.00.
The objective of this course is to provide a review for candidates for the American Board of Medical Genetics Subspecialty examinations: clinical genetics; molecular genetics; biochemical genetics; cytogenetics; and, genetic counseling. Topics to be covered include statistical and mathematical subjects in clinical genetics and population genetics, clinical cytogenetics, dysmorphology, ophthalmologic genetics, and general treatment and management of genetic diseases.

Evidence-Based Medicine provides tools that enable physicians and other healthcare providers to navigate complex clinical scenarios and deliver patient-centric care. This approach requires providers to be familiar with biomedical study designs, statistical tools, and frameworks for translating research into practice. It also encourages providers to be continuously alert for “clinical questions” that can be addressed using existing knowledge and for “knowledge gaps” that should be addressed through research.

The Human Genome Project (HGP) revolutionized biomedical research through the discovery and integration of Big Data. Post-HGP endeavors, such as ClinVar and the All of Us Research Program, formerly known as the Precision Medicine Initiative Cohort Program, have been designed to rapidly accelerate our research progress into clinical practice. Prevention and treatment strategies that take individual variability into account are not new concepts. However, precision medicine advances the field by leveraging technological progresses and ‘omics’ data to improve prediction, diagnosis, prognosis, and treatment for individual patients. This course will explore the possibilities, promises, and pitfalls of precision medicine, using real-world examples, and is intended to bridge the gap between basic biomedical research and its practical clinical applications. “What is needed now is a broad research program to encourage creative approaches to precision medicine, test them rigorously, and ultimately use them to build the evidence base needed to guide clinical practice.” Dr. Francis Collins, 2015.

This course examines the morphology of different cell types and their arrangement within tissues using both light microscopy and electron microscopy images. The course will begin with a detailed overview of the basic tissues: epithelial; connective; muscle; and, nervous tissues. The four basic tissues will then be applied to organ systems, and a discussion of some clinical pathologies will follow. The course will also cover cell functions within the different tissues as well as tissue preparations and types of stains to highlight different characteristics of tissue.

This course provides an introduction to therapies practiced for thousands of years in China and recently around the world. The Traditional Chinese Medicine (TCM) has its unique theory and interventions that are based on the understanding of the world and human body with systems approaches. This introductory course is aimed to bridge the gap between traditional Chinese medicine and modern science.

The objective of this course is to introduce students to the molecular basis of human diseases and current medical therapies, providing a bridge between medicine and biochemistry. The course is designed to cover fundamental concepts of molecular biology, genetics, and basic biochemical principles and to use these principles to analyze commonly occurring health-related problems. Each lecture will be set in the context of a major disease or a public-health concern, such as obesity, diabetes, cardiovascular diseases, cancer, infectious diseases, HIV/AIDS, Alzheimer’s, and other neurodegenerative diseases. Presentation, analysis, and group discussions of clinical cases selected to exemplify the subject topic will be integral part of the lectures. An historical perspective of how molecular medical knowledge and recent technological developments that have been instrumental in medical treatments will be also presented. The course differs significantly from a comprehensive biochemistry or biology course and is aimed at students in the health sciences or prospective medical students.

The endocrine system exerts control over the internal environment of the body through physiological detection, signaling, and feedback. It interacts with the systems of the body (digestive, nervous, renal, reproductive, cardiovascular, respiratory, skeletal, and metabolic) to provide a homeostatic environment. It adapts to stress, and it is essential for normal growth and development. The objective of this course is to provide students with an overview of endocrine physiology and pathophysiology. The course will describe how the endocrine system is integrated with the other physiological systems, along with the biochemistry of hormone synthesis and actions. Problem solving with endocrine disorders will form a basis for understanding the principles of hormone function. Students seeking basic knowledge on the principles of endocrinology to apply in their research or clinical training will find this course useful.

In this two-semester sequential course, students will be provided with an in-depth study of the physiology of human body systems. Topics studied in the fall semester are: molecular basis of physiology; the nervous system; and, cardiovascular system. The course sequence is intended as a bridge to advanced studies in pathophysiology and medicine.

In this two-semester sequential course, students will be provided with an in-depth study of the physiology of human body systems. Topics studied in the spring semester are: respiratory; renal; gastrointestinal; endocrine; and, reproductive physiology. The course sequence is intended as a bridge to advanced studies in pathophysiology and medicine.

Cancer is a term used to define over 200 subtypes of diseases all with the ability to divide uncontrollably. While these varied subtypes are identified by their place of origin or the tissues they affect, their most distinct features are the underlying signaling cascades that drive the disease. This course will discuss the roles of tumor suppressors and oncogenes in tumor growth at the molecular level. It will also explore in detail exemplar pathways that are disrupted in cancer as well as how such knowledge translates to novel therapies. Throughout, the course aims to provide a framework for how molecular mechanisms function and the important role they play in human biology.

This course provides a comprehensive survey of the pathophysiology of digestive and metabolic diseases and disorders, focusing on the most common diseases with public health implications. Diseases include, but are not limited to inflammatory bowel diseases (IBDs), diabetes and metabolic syndrome, common microbial infections, liver disease, irritable bowel syndrome (IBS), and GI cancers. Diagnoses, symptomology, and treatment strategies will be presented by guest lecturers with clinical and research expertise in specific disease pathologies. Within the context of these clinical topics on GI and metabolic disease, the underlying physiological, molecular, and cellular mechanisms will be reviewed and discussed along with current research. The course will be comprised of a combination of lectures and discussions, with reading assignments, an exam, a writing assignment, and a group presentation assignment.

Cancer is an ancient disease with specific characteristics. Students taking this course will discuss the genetic basis of cancer, the initiation and progression of cancer, aberrant signal transduction in tumor cells and metastasis. This course will also have a journal-club component, which will enable students to read and discuss scientific journal articles related to the course.

Cancer as a genetic disease has been the focus of many cancer researchers of the past decade. today. Today, with the ability to sequence genomes and analyze our genetic code at extremely high depth, new cancers with underlying genetic predispositions are continuing to be discovered. This course will place a special focus on such cancers, driven either due to hereditary factors (such as familial breast cancer and others) or due to specific genetic aberrations (fusion driven cancers). Students taking this course can expect an in-depth insight to the effect of such genetic aberrations to the onset and development of malignancies in individuals. Throughout, the course aims to provide a framework for better understanding the role of genetics in not just cancer but also human biology.

Human anatomy will be taught using a systemic approach and emphasizing the connection between function and structure as it relates to physiological conditions and diseases. To this end, lectures will integrate elements of embryology and histology. Modern imaging methods will be introduced as well. Selected topics of topographic anatomy will be also examined, including head/neck and pelvis. A mid-term and final exam will be offered to allow students to assess their comprehension of the material. This course is suitable for advanced undergraduate and/or postbac students planning a career in medicine and biomedical research and will be taught at a level of complexity that is similar to courses offered at most medical schools. Other biomedical researchers who seek to better understand the structural underpinnings of normal and pathologic functions of the human body may also find the course useful.

Human anatomy will be taught using a systemic approach and emphasizing the connection between function and structure as it relates to physiological conditions and diseases. To this end, lectures will integrate elements of embryology and histology. Modern imaging methods will be introduced as well. Selected topics of topographic anatomy will be also examined, including head/neck and pelvis. A mid-term and final exam will be offered to allow students to assess their comprehension of the material. This course is suitable for advanced undergraduate and/or postbac students planning a career in medicine and biomedical research and will be taught at a level of complexity that is similar to courses offered at most medical schools. Other biomedical researchers who seek to better understand the structural underpinnings of normal and pathologic functions of the human body may also find the course useful.

Cancer immunotherapy is a rapidly advancing field in research and in the clinic, which focusses on the interface between the immune system, inflammation and cancer biology. To advance research in this field an understanding of each of these systems and how they interact to suppress or promote cancer progression is vital. Students taking this class will gain an understanding of how the tumor microenvironment alters and evades the immune system and the contribution of inflammation in promoting cancer progression. This course will serve as an introduction to further studies in cancer immunotherapies.

Topics covered:

• Tumor microenvironment – the interactions between immune cells and cancer cells.
• Polarization of Macrophages and Recruitment of Inflammatory Cells by Cancer Cells.
• Mechanisms of Tumor- Induced Tolerance/Escape from the Immune System.
• Immunosuppression by Myeloid-Derived Suppressor Cells (MDSCs)
• Innate immune system in cancer and therapies utilizing cytokines and interferons.
• Cancer Vaccines: preventative and therapeutic.
• Viruses and cancer: cancer-causing viruses (eg HPV, HTLV1), oncolytic viruses and use of viruses in gene therapy.
• Anti-cancer antibodies (including ADCs) to target cancer cells.

Immunotherapy for cancer treatment has become a popular and important topic of study, and has been refined over recent years as our understanding of the interactions between tumors and the immune system improves. This seven week course will provide a brief background of the relationship between tumors, their microenvironment, and the immune system, before diving into the history of the earliest immune therapies, and making our way through the progression and development of newer therapeutic approaches. This course will focus on different ways to train our immune system to recognize and attack cancer cells, including vaccines, chimeric antigen receptor therapy, antibody therapy, adoptive cell transfer, oncolytic viruses, as well as clinical trials and other more theoretical methods which are still being developed with current research. This course will provide a current overview of immunotherapeutic approaches to treating cancer for those with a working knowledge of cancer and immunology.

Pathology is the study of disease etiology and progression. It investigates the molecular underpinnings of disease, ultimately leading to the gross appearance of the affected area. Such comprehensive understanding contributes to developing cutting-edge diagnostic testing, treatment recommendations, and preventive care. In Fundamental Principles of Pathology, we will examine both microscopic and gross specimens of diseased tissues and organs, while learning the molecular and physiological etiology of such conditions. As an introductory course, it will showcase the four main foci of pathology: anatomical, clinical, molecular, and oral and maxillofacial pathology, though the main focus will be anatomical pathology. As a core course in many health professions and biomedical research curricula (e.g. medical, physician assistant, physician scientist), it will introduce aspiring students to not only disease etiology, but also diagnostic identification, associated treatments, functional and clinical aspects of disease burden, and potential for targeted preventive care.

Translation is the process of turning observations in the laboratory, clinic and community into interventions that improve the health of individuals and the public — from diagnostics and therapeutics to medical procedures and behavioral changes.

Translational Science is an emerging field that seeks to identify broadly generalizable scientific and operational principles for translational research. Translational science examines translational research from a systems perspective to develop approaches that can improve the efficiency and effectiveness of translational research endeavors, broadly.

In this course, students will learn key principles of translational science, taught by way of a case study of a highly successful translational research partnership involving the National Center for Advancing Translational Sciences (NCATS), the National Cancer Institute (NCI), Northwestern University and the University of Kansas. The partnership produced a promising potential drug shown to inhibit metastasis in animal models, which is being examined in a first-in-human clinical trial in 2020.

The course describes in detail a range of recent or ongoing research activities – from preclinical to clinical to population health – that were led or supported by NCATS in response to the COVID-19 pandemic. Through this lens, the course teaches students effective approaches and strategies in translational science that have been key to the success of these efforts and are generalizable to other translational research activities. The course begins with an introduction to translational research and translational science, as well as an orientation to NCATS’ programs and resources, including our internal labs and extramural programs that are engaged in COVID research. We will highlight resources (e.g. access to technology, infrastructure, etc.) that allowed these programs to pivot quickly to respond to COVID-19. We then delve into an array of translational science challenges that NCATS and the broader scientific community have had to tackle to respond effectively to the COVID-19 pandemic. Having set up the challenges we move on to highlight specific examples of NCATS-led or supported projects responding to COVID-19 that effectively address these challenges Each week, students will learn about one or more NCATS-led or supported projects addressing the COVID-19 pandemic, and the translational science approaches and principles exemplified through the project. Overall, students will learn about the myriad ways NCATS is contributing to research to address the COVID-19 pandemic, and will leave the course equipped with a set of wide-ranging translational science strategies they can apply in their future work in translational research.

The objective of this course is to provide an overview of the principles and practice of human biochemical genetics. Topics to be covered include amino acidopathies, organic acidoses, disorders of carbohydrate metabolism and lipid metabolism, lysosomal storage diseases, peroxisomal diseases, purine and pyrimidine disorders, and a variety of other inborn errors of metabolism. Students will research a topic and present the lectures. Several quizzes are planned, and student participation will be strongly encouraged.

The study of relationships between human genotype and cognitive phenotypes are in their infancy, but even at this early stage there are a number of very well documented correlations between specific genetic polymorphisms and cognitive phenotypes such as risk of alcoholism, cognitive outcome after traumatic brain injury, and, particular personality phenotypes. We will review some of the classic papers describing specific genetic effects on cognitive phenotypes, but the focus of the course will be on the underlying molecular biology and genetics rather than the nuances of psychological testing. This course will not address the thorny questions of how to precisely define and measure cognitive phenotypes or, once the phenotypes are defined, to assess the genetic contributions to their variability. Rather we will discuss the molecular biology of specific genetic polymorphisms which are commonly studied in this context the biological reasonableness of some of these results.

Psychiatric pharmacogenetics involves the study of four classes of genes:

• Pharmacodynamic genes: These are genes encoding drug targets (or proteins physiologically related to those targets).
• Pharmacotypic genes: Genes impacting disease presentation and subtype (genetics of the disease itself)
• Pharmacokinetic genes:
  – Genes associated with drug transport (eg ABCB1/MDR1)
  – Genes associated with metabolism (eg CYP genes)
• Adverse drug reaction susceptibility genes (eg G6PD or HLA genes)
   

This course builds on the FAES course "Genetic Polymorphisms Affecting Human Cognition". The present course will focus on the genetics of psychiatric disease (pharmacotypic genes) and on genetic polymorphisms relevant to commonly used psychiatric medications (pharmacokinetic genes and the genetics of adverse drug reaction susceptibility genes).

Psychology is the science of mind, specifically its function and effects on behavior. Through social change, its five schools of thought – biological, behavioral, cognitive, social, psychoanalytic, and existential-humanistic theories – have collectively improved workplace environments, education delivery, mental healthcare, and even military intelligence. Psychologists and psychiatrists collaborate in not only treating mental health conditions, but ascertaining their etiology, whether genetic, iatrogenic, and/or familial, individual, and ethnocultural environment. Along with learning neural mechanisms and associated function, such understanding can uncover potential therapies and preventive care for mental illnesses. Furthermore, much of the brain’s functional anatomy and its associations with behavior and underlying neural mechanisms remain to be discovered. This warrants thorough knowledge of research methods, from computer simulations to animal studies, and the ethics that have coincidingly evolved. Therefore, the application of experimental and principles of psychology can benefit virtually any industrial or organizational setting.

The study of relationships between human genotype and cognitive phenotypes are in their infancy, but even at this early stage there are a number of very well documented correlations between specific genetic polymorphisms and cognitive phenotypes such as risk of alcoholism, cognitive outcome after traumatic brain injury, and, particular personality phenotypes. We will review some of the classic papers describing specific genetic effects on cognitive phenotypes, but the focus of the course will be on the underlying molecular biology and genetics rather than the nuances of psychological testing. This course will not address the thorny questions of how to precisely define and measure cognitive phenotypes or, once the phenotypes are defined, to assess the genetic contributions to their variability. Rather we will discuss the molecular biology of specific genetic polymorphisms which are commonly studied in this context the biological reasonableness of some of these results.

Psychiatric pharmacogenetics involves the study of four classes of genes:

• Pharmacodynamic genes: These are genes encoding drug targets (or proteins physiologically related to those targets).
• Pharmacotypic genes: Genes impacting disease presentation and subtype (genetics of the disease itself)
• Pharmacokinetic genes:
  – Genes associated with drug transport (eg ABCB1/MDR1)
  – Genes associated with metabolism (eg CYP genes)
• Adverse drug reaction susceptibility genes (eg G6PD or HLA genes)
   

This course builds on the FAES course "Genetic Polymorphisms Affecting Human Cognition". The present course will focus on the genetics of psychiatric disease (pharmacotypic genes) and on genetic polymorphisms relevant to commonly used psychiatric medications (pharmacokinetic genes and the genetics of adverse drug reaction susceptibility genes).