Biology, Genetics, and Medicine

This lecture and hands-on laboratory course is designed to provide participants with an introduction to molecular biology and recombinant DNA technology, along with related laboratory procedures that are widely used in biotechnology. Participants in this workshop will acquire skills in the use of generic methods, and through an understanding of such methods, will improve their effectiveness as staff in a contemporary research laboratory. Participants will learn about nucleic acids, strategies for cloning that includes various types of PCRs, and analysis of cloned products.

This three-day lecture and laboratory course is structured to provide life scientists who are not experienced in mammalian cell culture with an introduction to the principles and practices that will facilitate their ability to develop the use of in vitro systems. After successful completion of the workshop, participants are expected to feel comfortable handling general mammalian cell lines, detecting most common problems in cell culture room and troubleshoot accordingly.

This course will address the basic principles of epigenetics, the role of epigenetic mechanisms in normal development and human disease, and the development of epigenetically effective drugs. The objective is to provide a solid foundation of information enabling participants to design experiments when returning to their own research lab. The course will also provide a solid background in order to understand the literature in this rapidly growing field. Sequencing of the human genome has been the first step in understanding human genetics. The chemical modifications to DNA and 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. Lectures cover basic mechanism underlying DNA methylation, histone modification, chromatin organization, noncoding RNA, and gene repression. Moreover, a broad range of topics will be covered in epigenetic research, including cancer, development, environmental health, and immunology. In addition, the lectures will provide participants with practical information concerning current techniques in epigenetic research. For example, the application of CHARM, Illumina bead arrays, restriction enzyme analysis, and bisulfate sequencing is discussed in designing experiments and interpreting data. In the laboratory, participants will gain hands-on experience in techniques including methyl specific PCR, chromatin immunoprecipitation, and global DNA methylation assays.

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 course 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 course 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 hands-on lab training will prepare DNA, RNA, or single cell RNA libraries for Illumina Next Generation Sequencing under the instruction of experts from the industry using commercially available kits. This workshop also provides an opportunity for participants to bring their project-specific samples.

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.

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 the continuation of  Research Tools for Studying Diseases I and 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.

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.

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.

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.

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.

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 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 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 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.

Tuition: $708 This is a required course for graduate students enrolled in the JHU/NHGRI Genetic Counseling Training Program.

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.

Coming Soon.

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.

Tuition: $708 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.

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. INDIVIDUAL LAPTOP IS NEEDED FOR EACH CLASS TO REVIEW VIRTUAL SLIDES.

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.

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.

This course will cover the genetic basis of cancer, initiation and progression of cancer, signal transduction, tumor microenvironment, and metastasis. Additional topics will include cancer genomics, epithelial to mesenchymal transition, adhesion, angiogenesis, targeted therapies, and animal models. This course will also have a journal-club component, which will enable students to read and discuss scientific journal articles related to the course.

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.

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 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.