Human Genetics 2031 Chromosomes and Human Disease. Introduction to Human Genetics 2031

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1 Human Genetics 2031 Chromosomes and Human Disease Introduction to Human Genetics 2031 Lectures: Faculty: Office: Office Hours: Wednesday and Friday, 910:55 am, A522 Crabtree Hall Susanne M. Gollin, Ph.D., FFACMGG, Course Director 3136 Parran Hall, 412/ ; By appointment via ; immediately after class or at other mutually convenient times Course Description: The role of chromosomes in human disease is discussed after a thorough background on chromosome structure and function is presented. Topics covered include cytogenetic methodology, aneuploidy, chromosome rearrangements, chromosomes and cancer, chromosome breakage syndromes, and fragile sites on human chromosomes. Course Goal: The purpose of this course is to familiarize graduate students in Human Genetics, Genetic Counseling, Public Health Genetics, and the Biomedical Sciences, and Fellows in Clinical Genetics, Reproductive Endocrinology and Infertility, with the field of cytogenetics, the study of chromosomes, including the relationship between chromosomal abnormalities and human disease. Specific topics that the students will become wellversed in include the cellular basis of chromosome segregation; chromosome structure; meiosis and mitosis; cytogenetics nomenclature; numerical and structural chromosome abnormalities in clinical disorders, syndromes, and cancer; sex determination and sex chromosome abnormalities; prenatal diagnosis; genomic imprinting; copy number alterations; trinucleotide repeat disorders; chromosome breakage and cancer predisposition syndromes; classical and molecular cytogenetic methods including chromosome banding, FISH, copy number/snp microarrays; sequencing; noninvasive prenatal testing; an introduction to cancer genetics and cytogenetics; fertilization, cloning, and assisted reproductive techniques; and ethical issues related to cytogenetic testing and results. Learning Objectives Upon completion of this course students will be able to: Compare and contrast the strengths and limitations of the various cytogenetic assays Describe chromosomal alterations, their causes, and their clinical implications Describe the role of chromosomal alterations in development of cancer and cancer diagnostics Apply principles of effective written and oral communication to cytogenetics topics. Critique published cytogenetics literature Write a research proposal related to cytogenetics or chromosomes Interpret cytogenetic nomenclature Describe a variety of cytogenetic concepts and methodologies. Textbook: Human Chromosomes 4 th edition, Miller and Therman. Springer. ISBN13: Additional book (recommended): ISCN International System for Cytogenetic Nomenclature. Karger, Basel Pitt Bookstore or online through Pitt login at

2 The textbooks and background books are on reserve at the Falk Library for Health Sciences. Course website: All readings and course material will be found on Courseweb ( Grading Scale: A 8589 A 8084 B B 7074 B 6070 C < 60 F Student Performance Evaluation: The final grade is comprised of four components weighted equally: Exam 1, Exam 2, Team Research Proposal, and Team Oral Presentations. The grading of Research Proposals is based on Abstract (20), Background and Significance (35), Hypothesis and Aims (15), Methods (20), Human or Animal Subjects (5), Precautions (5), Timetable (5). The grading of Team Presentations is based on Presentation (20), Background (30), Hypothesis and Aims (15), Answer Questions (20), Audiovisual Clarity and Presentation (15). Academic Integrity: All students are expected to adhere to the school s standards of academic honesty. Any work submitted by a student for evaluation must represent his/her own intellectual contribution and efforts. The Graduate School of Public Health s policy on academic integrity, approved by EPCC on 10/14/08, which is based on the University policy, is available online in the Pitt Public Health Academic Handbook ( The policy includes obligations for faculty and students, procedures for adjudicating violations, and other critical information. Please take the time to read this policy. Students committing acts of academic dishonesty, including plagiarism, unauthorized collaboration on assignments, cheating on exams, misrepresentation of data, and facilitating dishonesty by others, will receive sanctions appropriate to the violation(s) committed. Sanctions include, but are not limited to, reduction of a grade for an assignment or a course, failure of a course, and dismissal from the school. All student violations of academic integrity must be documented by the appropriate faculty member; this documentation will be kept in a confidential student file maintained by the Office of Student Affairs. If a sanction for a violation is agreed upon by the student and instructor, the record of this agreement will be expunged from the student file upon the student s graduation. If the case is referred to the Pitt Public Health Academic Integrity Hearing Board, a record will remain in the student s permanent file. Plagiarism: University of Pittsburgh policy: Integrity of the academic process requires that credit be given where credit is due. Accordingly, it is unethical to present as one's own work the ideas, representations, words of another, or to permit another to present one's own work without customary and proper acknowledgement of sources.

3 A student has an obligation to exhibit honesty and to respect the ethical standards of the profession in carrying out his or her academic assignments. Without limiting the application of this principle, a student may be found to have violated this obligation if he or she presents as one's own, for academic evaluation, the ideas, representations, or words of another person or persons without customary and proper acknowledgment of sources and/or submits the work of another person in a manner which represents the work to be one's own. Source: Therefore, you must clearly indicate which thoughts are yours and which thoughts belong to others by citing your sources. If you are uncertain, please contact the instructor. Plagiarism detection software will be used in this course. If plagiarism is detected, you will automatically receive a grade of zero for that assignment. Disabilities: If you have a disability for which you are or may be requesting an accommodation, you are encouraged to contact both your instructor and Disability Resources and Services, 140 William Pitt Union, or (TTY) as early as possible in the term. Class Schedule Spring Term, 2017 Guest lecturers (University of Pittsburgh faculty unless otherwise noted) for the course are listed below and noted on the course schedule by their initials. Richard Chaillet, M.D., Ph.D. Marie C. DeFrances, M.D., Ph.D. Suneeta MadanKhetarpal, M.D., FACMGG Phuong L. Mai, M.D. Patricia L. Opresko, Ph.D. Lisa Parker, Ph.D. Devereux N. Saller, M.D., M.S., FACMGG William Saunders, Ph.D. Gerald Schatten, Ph.D. Urvashi Surti, Ph.D., FACMGG Alexander Yatsenko, M.D., Ph.D., FACMGG Svetlana Yatsenko, M.D., FACMGG Date Topic/Lecturer Miller & Therman Also see Articles on CourseWeb Wed. Jan 4 Fri. Jan 6 Wed. Jan 11 Fri. Jan 13 Intro to HuGen 2031; Research proposal; Introduction to cytogenetics. Chromosome structure. SMG Intro to Classical Cytogenetics and Chromosome Banding Methods; Cytogenetic nomenclature. SMG The cell cycle, cytoskeleton, spindles, kinetochores, and the mechanics of chromosome segregation. WS Review of Mitosis and Meiosis; Cytogenetic nomenclature. SMG 15 4, 68 2, 4, 9, 10 23, 29, 31 and ISCN(2013)

4 Date Topic/Lecturer Miller & Therman Also see Articles on CourseWeb Wed., Jan 18 Epigenetics/Uniparental disomy/imprinting RC 12, 15, 21 Fri. Jan. 20 Genetics/Cytogenomics Conference at 8 am at Magee Auditorium 0 Level followed by Special features of the Xchromosome. US/SY In the Magee Auditorium, 0 Level (downstairs from lobby) Wed. Jan 25 Review session before test 1. Fri. Jan 27 Midterm Test 1. Wed. Feb 1 Fri. Feb 3 Wed. Feb 8 Fri. Feb 10 Wed Feb 15 Aneuploidy/Numerical chromosome abnormalities part 1. SMG 1719,22, 30 23, 29, 31 and ISCN(2016) Aneuploidy/Numerical chromosome abnormalities part 11, 12, 23, 29, SMG Topics Due to Dr. Gollin Molecular cytogenetic methods (FISH, CGH, mfish/sky 11, 12, 21 and brief introduction to copy number microarrays: Resolution, types of arrays: BAC vs. SNP vs. Oligo Arrays) and their applications in constitutional and cancer cytogenetics. SY More In Depth Coverage of Copy Number Microarrays for constitutional disorders and cancer. SY Structural chromosome aberrations part 1. SMG 1316 Fri. Feb 17 Structural chromosome aberrations part 2. SMG 24, 25 Wed. Feb 22 Sex determination/sex chromosome abnormalities. SY 1719 Fri. Feb 24 Wed. March 1 Fri. March 3 Dilemmas in prenatal diagnosis; The problem of mosaicism; marker chromosomes; de novo abnormalities; examples. US Clinical implications of numerical and structural chromosome abnormalities. SMK Contiguous gene deletion/duplication syndromes. The application of oligo/snp microarrays, FISH, and classical cytogenetics to clinical diagnosis. SMK Wed. March 8 Spring Recess Fri. March 10 Spring Recess 11, 12, , 21

5 Date Topic/Lecturer Miller & Therman Wed. March 15 Intro to prenatal screening vs. diagnosis. The process; The prenatal screening/testing team; OB Genetics prenatal screening and testing/procedures (screening blood tests, U/S, CVS, amniocentesis), prenatal screening, nextsteps/results followup; decisionmaking and the perinatal team. DNS Fri. March 17 Review Midterm Exam 1 Also see Articles on CourseWeb Wed. March 22 Fri. March 24 Wed, March 29 Fri. March 31 Wed. April 5 DNA Repair Defects; Chromosomal Breakage Syndromes; Cancer Predisposition PLO Cancer Genetics 1 (CG1). The Basics: Oncogenes/Tumor suppressor genes/ Mismatch Repair Genes/ DNA Repair Genes/ Inherited Cancer Predisposition. PLM Additional Material from CG1. Cancer Genetics 2. Familial Cancer Syndromes, and Predisposing Genes. Family History Essentials, Counseling, and Testing. PLM Acquired chromosomal alterations and their molecular genetic implications in cancer cells. SMG. Fragile X syndrome/fragile sites/triplet Repeat Syndromes. SMG/MDF Fri. April 7 Midterm Exam 2 Wed. April 12 DNA sequencing in the context of prenatal diagnosis, diagnosis of constitutional genetic alterations, and cancer AY Fri. April 14 Wed. April 19 Chromosomes and Human Reproduction: Fertilization, ART, Cloning and Stem Cells. GS Ethical issues in cytogenetics; Human Subjects and Animal Welfare Considerations in Research Studies. LP Fri. April 21 Teams 14 Talks Wed. April 26 Teams 58 Talks Fri. April 28 Review Midterm Exam 2