Human Genetics 2031
Chromosomes and Human Disease
Introduction to Human Genetics 2031
Lectures:
Wednesday and Friday, 9-10:50 am, A215 Crabtree Hall
Faculty:
Susanne M. Gollin, Ph.D., FFACMG, Course Director
Office:
4008 Parran Hall Annex / Laboratory Pavilion, 412/624-5390; [email protected]
Office Hours: By appointment via email; 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 well-versed 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; non-invasive prenatal testing; an introduction into 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 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 any other topic
• Interpret cytogenetic nomenclature
• Describe the cellular basis of chromosome segregation, chromosome structure, meiosis and
mitosis, etc.
Textbooks:
Human Chromosomes 4th edition, 2000. Miller and Therman. Springer.
ISBN-13: 978-0387950464
Course website:
All readings and course material will be found on Courseweb (http://courseweb.pitt.edu).
Grading Scale:
90-100 A
85-89 A80-84 B+
75-79 B
70-74 B60-70 C
< 60 F
Student Performance Evaluation
The final grade is comprised of 4 components weighted equally: Exam 1, Exam 2, Research
Proposal, Powerpoint presentation with voiceover about research proposal.
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 Powerpoint presentations is based on presentation (30), Background (40),
Hypothesis and Aims (15), 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 (www.publichealth.pitt.edu/home/academics/academic-requirements). 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.
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:*
10. 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.
11. Submits the work of another person in a manner which represents the work to be one's own.”
Source: http://www.bc.pitt.edu/policies/policy/02/02-03-02.html
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, 412-648-7890 or 412-383-7355 (TTY) as early as possible in the term.
Class Schedule - Fall Term, 2015
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 Madan-Khetarpal, M.D., FACMG
H. Joel Mroczowski, M.D., Ph.D. (Fellow)
Patricia L. Opresko, Ph.D.
Lisa Parker, Ph.D.
Date
Devereux N. Saller, M.D., M.S., FACMG
William Saunders, Ph.D.
Gerald Schatten, Ph.D.
Urvashi Surti, Ph.D., FACMG
Darcy Thull, M.S., CGC
Alexander Yatsenko, M.D., Ph.D., FACMG
Svetlana Yatsenko, M.D., FACMG
Topic/Lecturer
Miller & Therman
Book Chapter
Reading
Assignment
Also see Articles on
CourseWeb
Intro to HuGen 2031; Research proposal; Introduction to
cytogenetics. Chromosome structure. SMG
tWed. Sept. 2
Please register for Science 2015 (October 7-9): It’s a great
educational opportunity for all of us.
http://www.science2015.pitt.edu/
I highly recommend the plenary session lectures if they
don’t conflict with a class. Also Spotlights, especially 8
(“One Health”) and 10 (“Epigenetics”).
1-5
tFri. Sept. 4
Intro to Classical Cytogenetics and Chromosome Banding
Methods; Cytogenetic nomenclature. SMG
4, 6-8
tWed. Sept. 9
The cell cycle, cytoskeleton, spindles, kinetochores, and
the mechanics of chromosome segregation. WS
2, 4, 9, 10
tFri. Sept. 11
Review of Mitosis and Meiosis; Cytogenetic nomenclature.
SMG
23, 29, 31 and
ISCN(2013)
tWed. Sept. 16
Cytogenetic nomenclature; Aneuploidy/Numerical
chromosome abnormalities – part 1.
23, 29, 31 and
ISCN(2013)
tFri. Sept. 18
Aneuploidy/Numerical chromosome abnormalities – part
2.
11, 12, 23, 29, 31
tWed. Sept. 23
Special features of the X-chromosome. HJM
17-19, 22, 30
tFri. Sept. 25
Structural chromosome aberrations – part 1. SMG
13-16
tWed. Sept. 30
Structural chromosome aberrations – part 2. SMG
24, 25
tFri. October 2
Midterm Exam 1
tWed. Oct. 7
Epigenetics/Uniparental disomy/Imprinting RC
Topics due to SMG [ASHG meeting October 6-10,
Baltimore]
tFri. Oct. 9
No class, but instead Science2015 Spotlight Session 8
See next page for details
12, 15, 21
Date
Topic/Lecturer
Miller & Therman
Book Chapter
Reading
Assignment
Also see Articles on
CourseWeb
tFri. Oct. 9
Science2015 Spotlight Session 8
-
"One Health"
9:00-10:30 am
Room in Alumni Hall TBD
Dean Donald S. Burke, MD, Moderator
From Felines to Fruit Flies to Faculty: Evolving "One
Health" Careers
Joan C. Hendricks, VMD, PhD
Exploring Evolution through Genomic Variants in
Mammals
Nathan Clark, PhD
Retinitis Pigmentosa in Animals and Humans
William A. Beltran, DVM, PhD
Infectious Diseases and the "One Health" Continuum
Simon M. Barratt-Boyes, PhD
Honors "One Health" Program in Veterinary Medical
Education
Michael T. Lotze, MD
tWed. Oct. 14
Molecular cytogenetic methods (FISH, CGH, mFISH/SKY
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
11, 12, 21
tFri. Oct. 16
More In Depth Coverage of Copy Number Microarrays for
constitutional disorders and cancer. SY
-
tWed. Oct. 21
Sex determination/sex chromosome abnormalities. SY
17-19
[NSGC meeting October 21-24, Pittsburgh]
tFri. Oct. 23
Review Midterm Exam 1
[NSGC meeting October 21-24, Pittsburgh]
-
tWed. Oct. 28
Clinical implications of numerical and structural
chromosome abnormalities. SMK
19
Date
Topic/Lecturer
Miller&Therman
Book Chapter
Reading
Assignment
tFri. Oct. 30
Contiguous gene deletion/duplication syndromes.
The application of oligo/SNP microarrays, FISH,
and classical cytogenetics to diagnosis. SMK
15, 21
tWed. Nov. 4
Intro to prenatal diagnosis, prenatal screening, &
followup. DNS
-
tFri. Nov. 6
Dilemmas in prenatal diagnosis; The problem of
mosaicism; marker chromosomes; de novo
abnormalities; examples. US
-
tWed. Nov. 11
Oncogenes/Tumor suppressor genes/ Mismatch
Repair Genes/ Inherited Predisposition to
Cancer. DT
24-28
tFri. Nov. 13
Chromosomal Alterations in hematologic
malignancies and solid tumors. SMG.
-
tWed. Nov. 18
Fragile X syndrome/Fragile sites/Triplet Repeat
Syndromes. SMG/MDF
20
tFri. Nov. 20
Midterm Exam 2.
-
tWed. Nov. 25
Thanksgiving Recess
-
tFri. Nov. 27
Thanksgiving Recess
-
tWed. Dec. 2
DNA Repair Defects; Chromosomal Breakage
Syndromes; Cancer Predisposition PLO
24
tFri. Dec. 4
DNA sequencing in the context of prenatal
diagnosis, diagnosis of constitutional genetic
alterations, and cancer AY
Papers and videos/slides due to Dr. Gollin.
-
tWed. Dec. 9
Chromosomes and Human Reproduction:
Fertilization, ART, Cloning and Stem Cells. GS
-
tFri. Dec. 11
Ethical issues in cytogenetics. LP
-
tWed. Dec. 16
Review Midterm Exam 2
-