Department of Genetics and Genome Sciences

Biomedical Research Building
Phone: 216.368.3431
Zhenghe J Wang, PhD, Chair
zxw22@case.edu


The Department of Genetics & Genome Sciences embraces a unified program devoted to outstanding research and teaching in all areas of genetics, with particular emphases on genomics, human genetics and animal models, development, and chromosome structure and function. Faculty conduct internationally recognized research programs in each of these areas. They also are committed to training the next generations of leading genetics researchers. The department has three special programs: the Center for Human Genetics, the Center for Computational Genomics and the Genomic Medicine Institute (descriptions appear later in this narrative).

Programs offered lead to the PhD, combined MD/PhD degree, Master of Science in Genetic Counseling, or a dual degree program with a MS in Genetic Counseling and MA in Bioethics and Medical Humanities. In addition to required and elective coursework, students participate in ongoing journal clubs, research seminars, and grand rounds. A program of departmental and interdepartmental seminars by outstanding visiting scientists provides regular exposure to a broad range of current research in genetics.

Applications to the PhD program in Genetics and Genome Sciences are through the Biomedical Sciences Training Program, which provides access to most of the biomedical science PhD programs at CWRU during the first semester. Students who wish to join Genetics and Genome Sciences directly should apply to the BSTP by selecting "Biomedical Sciences Training Program" as their Academic Program in the "Enrollment Information" section. Then, select Genetics and Genome Sciences as a Priority Program of Interest (PPI) in the Supplemental portion of the BSTP application form. Selecting the PPI option will identify you as a BSTP applicant who seeks admission only to the Genetics and Genome Sciences PhD program. Students interested in pursuing the combined MD/PhD program are admitted through the Medical Scientist Training Program (MSTP, please see separate listing in this publication). Those students interested in careers in genetic counseling apply directly to the Genetic Counseling Training Program, via the common Graduate Studies application.

The Center for Human Genetics is an integral part of the Department of Genetics and consists of both research and clinical laboratories involved in human and clinical genetics. This center supports research and clinical programs focusing on the molecular basis of inherited disease, human genetic disease mapping, and the genetic dissection of complex disease, as well as providing clinical care and training for postdoctoral fellows and genetic counseling students.

The Center for Computational Genomics is an interdisciplinary research and training program involving faculty in the Department of Population and Quantitative Health Sciences in the School of Medicine and in the Department of Electrical Engineering and Computer Science in the School of Engineering. The center provides opportunities to combine research in genetics, genomics, epidemiology, biostatistics, computer science, and systems biology.

The Genomic Medicine Institute is a joint program involving the Cleveland Clinic Foundation and Case Western Reserve University. Its emphasis involves translating discoveries in basic and clinical research to clinical practice. The mission is to exploit the discoveries in genomics, epidemiology, ethics, pharmacology, genetics, and physiology to revolutionize the practice of medicine.

Genetics (GENE)

GENE 325. Introduction to Genetic Counseling. 2 Units.

This course introduces the growing field of genetic counseling and is intended for undergraduate students exploring possible healthcare careers. It covers fundamental topics including general genetic principles, genetic specialties and genetic disorders; risk assessment; psychosocial and communication skills; and ethics. Students will test their knowledge using case studies representing a range of common areas of practice including pediatrics, prenatal care and family planning, general genetics, laboratory, and oncology. This course will introduce students to this exciting field and will give students interested in graduate school increased exposure to the profession. Prereq: BIOL 214 and BIOL 215 and BIOL 326.

GENE 367. Commercialization and Intellectual Property Management. 3 Units.

This interdisciplinary course covers a variety of topics, including principles of intellectual property and intellectual property management, business strategies and modeling relevant to the creation of start-up companies and exploitation of IP rights as they relate to biomedical-related inventions. The goal of this course is to address issues relating to the commercialization of biomedical-related inventions by exposing law students, MBA students, and Ph.D. candidates (in genetics and proteomics) to the challenges and opportunities encountered when attempting to develop biomedical intellectual property from the point of early discovery to the clinic and market. Specifically, this course seeks to provide students with the ability to value a given technological advance or invention holistically, focusing on issues that extend beyond scientific efficacy and include patient and practitioner value propositions, legal and intellectual property protection, business modeling, potential market impacts, market competition, and ethical, social, and healthcare practitioner acceptance. During this course, law students, MBA students, and Ph.D. candidates in genomics and proteomics will work in teams of five (two laws students, two MBA students and one Ph.D. candidate), focusing on issues of commercialization and IP management of biomedical-related inventions. The instructors will be drawn from the law school, business school, and technology-transfer office. Please visit the following website for more information: fusioninnovate.com. Offered as EBME 467, ECSE 467, GENE 367, GENE 467, LAWS 5341, MGMT 467, and RGME 467.

GENE 451. A Data-Driven Introduction to Genomics and Human Health. 3 Units.

This course introduces the foundational concepts of genomics and genetic epidemiology through four key principles: 1) Teaching students how to query relational databases using Structure Query Language (SQL); 2) Exposing students to the most current data used in genomics and bioinformatics research, providing a quantitative understanding of biological concepts; 3) Integrating newly learned concepts with prior ones to discover new relationships among biological concepts; and 4) providing historical context to how and why data were generated and stored in the way they were, and how this gave rise to modern concepts in genomics. Offered as PQHS 451, GENE 451, and MPHP 451.

GENE 467. Commercialization and Intellectual Property Management. 3 Units.

This interdisciplinary course covers a variety of topics, including principles of intellectual property and intellectual property management, business strategies and modeling relevant to the creation of start-up companies and exploitation of IP rights as they relate to biomedical-related inventions. The goal of this course is to address issues relating to the commercialization of biomedical-related inventions by exposing law students, MBA students, and Ph.D. candidates (in genetics and proteomics) to the challenges and opportunities encountered when attempting to develop biomedical intellectual property from the point of early discovery to the clinic and market. Specifically, this course seeks to provide students with the ability to value a given technological advance or invention holistically, focusing on issues that extend beyond scientific efficacy and include patient and practitioner value propositions, legal and intellectual property protection, business modeling, potential market impacts, market competition, and ethical, social, and healthcare practitioner acceptance. During this course, law students, MBA students, and Ph.D. candidates in genomics and proteomics will work in teams of five (two laws students, two MBA students and one Ph.D. candidate), focusing on issues of commercialization and IP management of biomedical-related inventions. The instructors will be drawn from the law school, business school, and technology-transfer office. Please visit the following website for more information: fusioninnovate.com. Offered as EBME 467, ECSE 467, GENE 367, GENE 467, LAWS 5341, MGMT 467, and RGME 467.

GENE 468. Commercialization and IP Management II. 3 Units.

This course will concentrate on early-stage product development, with a focus on conventional approaches to venture financing, regulatory positioning and navigation, corporate licensing/partnering, and investment pitch methodologies. The content of the course will include specific innovations vetted by CWRU Technology Transfer and facilitation by the product Principal Investigator The course will culminate in a presentation for financing to a panel of investors, clinical thought leaders and/or economic development professionals; in a simple sense, students will learn how to position a qualified opportunity for early-stage development and financing towards ultimate clinical and market introduction. Offered as EBME 468, GENE 468, LAWS 5342, MGMT 468, and RGME 468.

GENE 500. Fundamentals and Current Topics in Genetics and Genomics Research. 6 Units.

This course is aimed towards first year Ph.D. students in the Department of Genetics, but the course is open to anyone wishing to study genetic approaches to biological research. A solid background in basic biochemistry, molecular biology and general genetics is essential. At the end of this course students should be able to (1) read and critically evaluate studies in the primary literature and communicate the significance and impact of that study and (2) identify the important open questions and be able to design a research strategy to begin to address those questions. Recommended preparation: BIOL 362.

GENE 503. Readings and Discussions in Genetics. 0 - 3 Units.

(Credit as arranged.) In-depth consideration of special selected topics through critical evaluation of classic and current literature.

GENE 504. Advanced Eukaryotic Genetics II. 3 Units.

Fundamental principles of modern genetics: population and quantitative genetics, dissection of genome organization and function, transgenics, developmental genetics, genetic strategies for dissecting complex pathways in organisms ranging from Drosophila and C. elegans to mouse and human. Recommended preparation: GENE 500 or permission of instructor.

GENE 505. Genetics Journal Club. 1 Unit.

Genetics Journal Club is a graduate level course designed to facilitate discussion of topics in Genetics. Students choose "hot" papers in Genetics and present them to their peers. Group presentations are designed to encourage audience participation. The intent of this class is to expose students to cutting edge topics in Genetics and to instill teaching and leadership skills.

GENE 511. Grant Writing and Reviewing Skills Workshop. 3 Units.

This is an introductory graduate course in grant writing and reviewing skills. During this course, each student will write a research grant on a topic of their choice. Proposals may form the basis for the written component of the preliminary examination in the Genetics Department. Students will also participate in editing and reviewing the proposals of their classmates. Prereq: GENE 500.

GENE 520. Computational Human Genomics and Epigenomics. 4 Units.

The purpose of this course is to acquaint students with current high-throughput techniques and computational pipelines to assay the human genome, epigenome, and transcriptome on a large scale. The course will be a combination of lecture, discussion, and hands-on sessions. Topics will include next-generation sequencing pipelines (DNA variant calling, RNA sequencing, ATAC-seq, single-cell sequencing, spatial transcriptomics, etc.), as well as "best practices" for programming, software development, and distribution.

GENE 521. Advanced Medical Genetics: Prenatal Genetics. 1.5 Unit.

In this course, students will be introduced to the various aspects of prenatal genetics including normal and abnormal pregnancy and fetal development. Students will become familiar with genetic testing and screening options that are used to investigate risk for genetic conditions in pregnancy and appropriate clinical applications of these tests. Using maternal, familial, and fetal factors, population data, and genetic screening and testing results, students will formulate personalized risk assessments. Topics such as infertility, pregnancy loss, and other pregnancy management options will be explored. Students will appreciate the psychosocial elements specific to prenatal genetic counseling and continue to develop skills in presenting information in a balanced manner.

GENE 522. Advanced Medical Genetics: Quantitative Genetics. 1 Unit.

The purpose of the course is to provide a foundation in quantitative genetics. We will cover concepts related to risk assessment and calculation and its application to medical genetics including principles and application of Hardy Weinberg equilibrium as well as applying Bayes' Theorem as a mechanism to refine risk assessment based on data specific to a patient.

GENE 523. Advanced Medical Genetics: Cytogenetics. 1 Unit.

This course provides an in-depth forum for discussion of fundamental principles regarding clinical cytogenetics and its relevance to medical genetics, genomics and genetic counseling. Following a historical overview, topics include a discussion of numerical and structural chromosomal aberrations, sex chromosome abnormalities, issues regarding population cytogenetics, clinical relevance of such findings as marker chromosomes, mosaicism, and contiguous gene deletions.

GENE 524. Advanced Medical Genetics: Molecular Genetics. 1 Unit.

This course provides an in-depth forum for discussion of fundamental principles regarding molecular genetics and their relevance to medical genetics, genomics and genetic counseling. The course will cover principles of molecular genetics including structure, function and regulations of genes (DNA, RNA, proteins), genetic variation, inheritance patterns and molecular laboratory techniques in the clinical laboratory.

GENE 525. Advanced Medical Genetics: Clinical Genetics. 2 - 3 Units.

Fundamental principles regarding congenital malformations, dysmorphology and syndromes. Discussion of a number of genetic disorders from a systems approach: CNS malformations, neurodegenerative disorders, craniofacial disorders, skeletal dysplasias, connective tissue disorders, hereditary cancer syndromes, etc. Discussions also include diagnosis, etiology, genetics, prognosis and management.

GENE 526. Advanced Medical Genetics: Genomics. 1 Unit.

The purpose of this half-semester course is to focus on genomic approaches and technologies which have greatly expanded our understanding of not only rare genetic disorders but common ones as well. We will focus on understanding the clinical implications of the interpretation of next generation sequencing results, identify limitations of genomic technologies, and practice curation/annotation and interpretation of genomic testing results. In addition, we will discuss resources and bioinformatics tools including national databases and clinical labs to aid in the interpretation of genomic test results including variants of uncertain significance. Prereq: GENE 524.

GENE 527. Advanced Medical Genetics: Metabolic Genetics. 1 Unit.

The purpose of this half-semester course is to examine the biochemical basis of human disease. We will cover we clinical phenotypes, diagnosis, treatment, and genetic counseling for inborn errors of metabolism. Fundamental principles of metabolic testing, amino acid disorders, organic acid disorders, carbohydrate disorders, peroxisomal disorders, and mitochondrial disorders will be covered. Discussion of screening principles and newborn screening as well as approaches to diagnosis, management and therapy for metabolic diseases.

GENE 528. Principles and Practices of Genetic Counseling. 1.5 Unit.

This course provides an in-depth focus on the clinical skills necessary to function in a medical genetics setting. Topics covered include why a family might seek genetic counseling, how a genetic counselor obtains and analyzes medical, developmental, and family history information, and how a genetic counselor presents information to families and other medical professionals. Patterns of inheritance, pedigree construction and analysis, as well as the genetic physical examination, procedures and methods used in the genetic evaluation are presented. Information regarding normal growth and development is presented first, followed by discussions of abnormal findings. Prereq: Enrolled in the Master of Science in Genetic Counseling program.

GENE 529. Psychosocial Issues in Genetic Counseling. 3 Units.

Fundamental principles regarding the psychosocial aspects of genetic disease and birth defects, its psychological and social impact on the individual and family. Topics include the genetic counseling interview process, issues regarding pregnancy and prenatal diagnosis, chronicity, death and loss. Cultural issues and their impact on the genetic counseling session are addressed. Resources for families are also explored. Basic interviewing skills are presented. Students will have an opportunity for practice of skills through role play and actual interviewing situations.

GENE 530. Advanced Medical Genetics: Therapeutics. 1 Unit.

The purpose of this half-semester course is to examine the rapidly evolving area of treatment for genetic disorders, both rare and common. We will discuss the mechanisms of therapy for genetic disorders, as well as the ethical issues, risks, benefits, and limitations of each treatment. Prereq: GENE 524.

GENE 531. Cancer Genetics. 2 - 3 Units.

This seminar will discuss basic concepts in cancer epidemiology, principles of cancer genetics, inherited cancer syndromes, cytogenetics of cancers, predigree analysis for familial cancer risk and approaches to the differential diagnosis of inherited and familial cancers. Additionally, topics of risk assessment, genetic testing, screening, management and psychosocial issues in providing genetic counseling to patients with familial and inherited cancers will be discussed.

GENE 532. Clinical Practicum in Genetic Counseling. 1 - 6 Units.

This clinical practicum provides the student an opportunity to function as a genetic counselor by preparing for cases; obtaining appropriate histories; determining risks; performing psychosocial assessments; discussing disease characteristics, inheritance, and natural history; providing anticipatory guidance and supportive counseling; using medical and community resources; and follow-up. Students rotate through four clinical areas and one laboratory and will register for a total of 12 hours over the course of the program. Recommended preparation: Admission to Genetic Counseling Training Program.

GENE 534. Preparing for Genetic Counseling Practice. 1 Unit.

This course is designed to provide students with a practical foundation in preparing for clinical participation in various practice areas. This hands-on course will build on and mirror the didactic content learned from GENE 528: Principles of Genetic Counseling and GENE 529: Psychosocial Genetic Counseling and will serve as an applied course. Students will have the opportunity to practice empathy and listening skills, patient education, and counseling techniques through patient role plays. In addition, students will attempt practical skills such as chart review, interpretation of screening and testing reports, pedigree risk assessments, online risk models, simulated coordination of testing, application of practice guidelines in a clinical context, completion of requisition forms, and identification of genetic testing options based on insurance considerations. This practice-based exploration of clinical genetic counseling will be a safe space to practice counseling skills and will equip students to participate in patient care on clinical rotations. Coreq: GENE 528 or GENE 529.

GENE 535. Genetic Counseling Journal Club. .5 Unit.

This in-person seminar course will discuss current topics in genetic counseling by reading and reviewing recently published articles in the scholarly literature. This will allow students to practice and hone critical appraisal of the literature and apply recently published literature to genetic counseling practice. The format is a group seminar, problem-based learning in which a student will lead a semi-structured interactive presentation and facilitation of group discussion of the research article. Articles chosen for discussion will have a focus on access, service delivery, diversity, disability, social determinants of health, education, religion, culture, equity, inclusion, justice, or belonging issues relevant to the field of genetic counseling. For each session, students choose articles with instructor's guidance, prepare discussion questions, and lead the group discussion.

GENE 536. Research Seminar I. 1 Unit.

This course serves as an introduction to the thesis research process. The course will provide an overview of research methods, both qualitative and quantitative, with a focus on when each type of method should be used. The second aspect of the course is to provide an interactive forum for students and faculty to discuss the research process and provide the student with tools to progress through the process so that the end result is a nearly completed research proposal. This semester will focus on the research process in general, identifying research ideas & questions, working on writing your research question and specific aims and learning to critically review and write a literature review/background as the "underpinnings" of your research question. This seminar course also provides a forum for vetting your ideas and discuss difficulties with your peers. Throughout the course, there will be several "roundtable" opportunities when updates will be expected on your progress. Additionally, this is the time to help your peers, and the expectation is that you will participate in these discussions to assist your classmates. Guest speakers will come to augment specific class topics. Prereq: Enrolled in the Master of Science in Genetic Counseling program.

GENE 538. Research Seminar II. 1 Unit.

This seminar course is a continuation of GENE 536 Research Seminar I, and is designed to provide the student the tools to develop a complete research proposal in an NIH grant format. This semester will focus on some of the specific aspects of the research process such as developing the methods section of your research proposal, statistical approaches to analyzing research data; and ethical issues in human research--protecting research subjects, IRBs, etc. The seminar class is also a forum for vetting your ideas and discuss difficulties with your peers. Throughout the course, there will be several "roundtable" opportunities when updates will be expected on your progress. Additionally, this is the time to help your peers, and the expectation is that you will participate in these discussions to assist your classmates. The class will be split in half to allow more in-depth discussion and mentorship on your research project. Guest speakers will come to augment specific class topics. Prereq: GENE 536.

GENE 540. Clinical Applications of Bioethics in Genetic Counseling. 2 Units.

This course is designed to prepare genetic counseling students to thoughtfully navigate the ethical issues that arise when working with individuals and families pursuing genetic counseling, screening, and testing. Topics will include foundational bioethics principles; the historical context of genetics and genetic counseling, including eugenics and structural inequities; genomic sequencing in the newborn period; pediatric and adult genetic and genomic testing; carrier and prenatal screening ethics, including disability perspectives and contemporary legal considerations; direct to consumer testing; gene therapy and genome editing; the NSGC Code of Ethics; conscience clauses; and the practical use of ethics committees and ethics consultations in genetic counseling. The course will be conducted as a seminar featuring discussion, reflection, and engagement with guest experts. Offered as BETH 540 and GENE 540.

GENE 601. Research in Genetics. 1 - 9 Units.

(Credit as arranged.)

GENE 701. Dissertation Ph.D.. 1 - 9 Units.

(Credit as arranged.) Prereq: Predoctoral research consent or advanced to Ph.D. candidacy milestone.