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Ellen L. Schlenker, MS, CGC
Ellen L. Schlenker, MS, CGC
Ellen L. Schlenker, MS, CGC
Ellen L. Schlenker, MS, CGC
Ellen L. Schlenker, MS, CGC
Ellen L. Schlenker, MS, CGC
Ellen L. Schlenker, MS, CGC
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Ellen L. Schlenker, MS, CGC

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  • 1. Medical Genetics 2009 - 2010 Drexel University College of Medicine Faculty Carol Artlett, PhD Carol Anderson, MD L. William Bergman, PhD Elizabeth Blankenhorn, PhD Ben Kahn, MD Kirsten Larson, PhD Daniel Rader, MD Daniel Schidlow, MD Ellen L. Schlenker, MS, CGC Frank Shafer, MD Akhil Vaidya, PhD Michael Yudell, MPH, PhD
  • 2. I. COURSE ADMINISTRATION The Course Director for Medical Genetics is Dr. Kirsten Larson. Her office is room G47 on the ground floor in the Microbiology and Immunology Department. Her office phone number is 215-991-8378. Please address all matters relating to the course to her. It is the responsibility of the student to notify the course director when a circumstance arises that prevents the student from meeting his/her responsibilities in the course. Failure to do so could cause unnecessary complications. If Dr. Larson isn’t available during Fundamentals or Abnormal Amniocentesis, please contact the following individuals: Fundamentals Dr. Akhil Vaidya akhil.vaidya@drexelmed.edu Queen Lane #153 (Micro & Imm) Abnormal Amniocentesis Clinical lectures Dr. Libby Anderson carol.anderson@tenethealth.com St. Christopher’s Hospital for Children Basic Science lectures Dr. Bill Bergman lawrence.bergman@drexelmed.edu Queen Lane #149 (Micro & Imm) II. GRADING As indicated in the schedule, there will be four exams, each with different weights in addition to two quizzes. Evaluation consists predominantly of multiple-choice type questions; however, the exam in Fundamentals will include a short answer question where students will need to draw a pedigree and interpret it. Questions will come from all lectures; however, a few lectures have been identified as “Core Content Lectures” and have been marked with an “*” in the schedule. These lectures are weighted disproportionately and key components will be tested on subsequent exams without re-teaching the material. In addition to the lectures, students are responsible for the disorders covered “Clinical Cases Studies.” After they are assigned, students are expected to be familiar with the disease name and the inheritance pattern for subsequent exams. The last exam (Failure to Thrive) will contain 20-30 comprehensive questions that integrate basic concepts. These questions integrate the Clinical Case Studies with core concepts. An email in early January will outline these topics. Hours Module Points† % of grade† Lecture Conference Review % of hours Fundamentals 5 1.5 1 17% 28 16%‡ Abnormal Amniocentesis 9 1.5 1 27% 39 22% Muscle Weakness 4 1.5 0 14% 25 (quiz, no exam) 14% Chest Pain 6.5 0 0 24% 29 16% Suspicious Lump 3 0 0 Shortness of Breath 1 1.5 0 18% 17 10% Failure to Thrive 3 1.5 0 Comprehensive 33 - - - - 22% Questions* 5 pedigree Students who attend ALL of the conferences at the correct time/place and turn in the short Conferences assignments will receive 1% added to their final grade. 1% (bonus) • The last exam will include 30-35 broad comprehensive questions in addition to the questions from the module. † This number indicates the approximate number of questions and overall weight of each exam. These are only estimates. ‡ Students will be expected to remember and uses core concepts from this module in subsequent modules.
  • 3. The final grade will be composed of the results of all Medical Genetics questions on examinations. Students with an overall course average of 91% or above will receive the grade of Honors, while those with course averages of 88%-90% will receive the grade of Highly Satisfactory. All other students who receive a grade above 70% will receive a Satisfactory grade. Students whose overall average is below 70% but within 1.5 standard deviation of the mean will receive a Marginally Unsatisfactory designation, while those students whose course average is 1.6 or more standard deviations below the class mean will receive the grade of Unsatisfactory. Please note that we WILL NOT ROUND genetics grades. III.REMEDIAL WORK Students whose final grade in Medical Genetics is Marginally Unsatisfactory or Unsatisfactory will be allowed to take a make-up examination pending approval of the Year 1 and 2 Promotions Committee. This exam will be given at least twice. The first will be given within two weeks of the end of the academic year and once approximately two to three weeks before the beginning of year 2. If this remedial exam is passed, the student’s final grade will be recorded as Satisfactory or Unsatisfactory/Satisfactory depending on the original grade earned. Students who earn a marginally unsatisfactory or unsatisfactory in Medical Genetics should consult with the course director shortly after the completion of the course to make appropriate arrangements. IV. EXAMINATIONS Students will be responsible for information in lectures, lecture handouts, conferences, and Clinical Case Studies. All the information required for the examinations will be presented in lecture, conference, or reading assignments (please note, required new information will be introduced in the conferences and Clinical Case Studies). Questions will attempt to emphasize integrated concepts over memorization, and basic principles are often applied in clinical descriptions. V. MAKE-UP EXAMS In the event of illness or other circumstances that prevent the student from sitting for an examination, the student must contact Dr. Sam Parish, Senior Associate Dean of Student Affairs. With permission from Dr. Parish, a make-up exam will be scheduled through the IFM office. Make-up exams will be comparable to the exams given the general class. VI. MAKE-UP QUIZZES In the event of illness or other circumstances that prevent the student from sitting for the quiz, the student must contact the course director within 24 hours of the quiz. With permission from Dr. Larson, a make-up quiz will be scheduled. The quiz must be made before the end of the module or the grade will be recorded as a zero. THIS COURSE DOES NOT DROP QUIZ GRADES. VII. CONFERENCES The conferences provide students the opportunity to apply lecture material and problem solve. The class will be broken down into smaller groups for conferences. While the conferences often review lecture material, they DO include new concepts and information not covered in lecture. Attendance is NOT mandatory; however, the faculty members feel attendance is helpful. To encourage attendance, 1 percentage point will be added to the final grade of students who attend ALL of the conferences and turn in the suggested
  • 4. assignments. Students will be assigned to a conference room for each session. Credit will be given if the student attends the correct group at the correct time, and turns in his/her assignments. While students can work on conference problems in a group, copying other student’s answers is considered an honor code violation. VIII. REQUIRED TEXT AND REFERENCE BOOKS The required text for this course is Thompson and Thompson Genetics in Medicine by Robert Nussbaum, Roderick McInnes, and Huntington Willard (WB Saunders, 2007). This textbook is a good resource with significant depth. Recommended textbooks for additional reading – Emery's Elements of Medical Genetics by Robert F. Mueller, Ian D., MD Young (Livingstone, 2007). This text provides an elementary approach to the topics in medical genetics. – Principles of Medical Genetics by Thomas Gelehter, Francis Collins, and David Ginsburg (Williams and Wilkins, 1998). This text provides a well-presented background to basic human and medical genetics. IX. COURSE OBJECTIVES Medical genetics is the study of human variation relevant to health and disease. The goal of this course is to provide an initial framework of medical genetic understanding so that students can continue to build on it throughout medical school and in their medical career. This course will provide a foundation in genetics so that students have the necessary context to develop competency in the areas of genetics knowledge, skills and attitudes recommended in 2001 by the American Society of Human Genetics and the Association of Professors of Human and Medical Genetics and the American Association Medical Colleges (AAMC). These guide lines are posted at http://www.ashg.org/pages/pubs_curriculum.shtml and http://www.aamc.org/meded/msop/msop6.pdf respectively. Upon completing the Medical Genetics course, the student will be able to demonstrate basic knowledge of … 1. the fundamental components of this field including molecular genetics, cytogenetics, biochemical genetics, population and quantitative genetics and medical genetics; 2. the structure and function of genes, the general organization of the human genome, the role of genes in diseases, chromosomes and chromosomal abnormalities; 3. how genetic factors can contribute to the pathology and pathogenesis of human disease and understand their relevance in clinical practice; 4. how to construct an appropriate medical pedigree and recognize patterns of inheritance and other signs suggestive of genetic disease in the family history; 5. the presentation, molecular basis and genetic importance of approximately thirty significant inherited diseases. In addition to these academic skills, the student should have begun to develop the following clinical and professional abilities and be able to: 6. describe selected instances when an individual with a genetic disease or congenital anomaly should be referred to medical genetics specialists and why such a referral is beneficial to the patient; 7. recognize features in a patient's medical history, physical examination or laboratory investigations that suggest the presence of genetic disease; 8. recognize some of the possible implications of genetic testing and diagnosis of a genetic disease for individual and his/her family, and facilitate appropriate assessment of other at-risk family members; 9. outline how the knowledge of a patient's genotype can be used to develop a more effective approach to health maintenance, disease prevention, disease diagnosis and treatment for the patient and his/her family;
  • 5. 10. efficiently interpret the results of common cytogenetic and molecular genetic diagnostic techniques; 11. understand the potential advantages, limitations and disadvantages of carrier, prenatal and predictive testing for genetic disease; 12. recognize the presence of varying cultural, social and religious attitudes in relation to issues such as mate selection, abortion, genetic testing and assessment of phenotypic “normalcy”; 13. understand that the goal of genetic counseling is to present all relevant information and options fairly, accurately and non-coercively; 14. recognize the dilemmas often posed by confidentiality when relatives are likely to be at risk for a serious disease; 15. access and understand medical literature to answer defined questions; 16. function effectively in a team and in peer teaching settings; 17. apply and develop these concepts throughout the rest of the student’s medical education. X. FACULTY PERSON DEPARTMENT E-MAIL PHONE Carol Artlett, PhD Microbiology carol.artlett@drexelmed.edu 215-991-8389 Carol Anderson, MD Clinical Genetics, SCHC carol.anderson@drexelmed.edu 215-427-8413 lawrence.bergman@drexelmed.ed L. William Bergman, PhD Microbiology 215-991-8376 u Kirsten Larson, PhD Microbiology kirsten.larson@drexelmed.edu 215-991-8378 Daniel Rader, MD Medicine, U Penn — — Daniel Schidlow, MD Pediatrics, SCHC daniel.schidlow@drexelmed.edu 215-427-4801 Ellen L. Schlenker, MS, Genetics, Genzyme ellen.schlenker@genzyme.com — CGC Frank Shafer, MD Hematology, SCHC frank.shafer@tenethealth.com 215.427.4399 Akhil Vaidya, PhD Microbiology akhil.vaidya@drexelmed.edu 215-991-8557 SPH-Community Health & Michael Yudell , MPH, PhD myudell@drexel.edu 215-762-6515 Prevention Direct Faculty Assistance: Students may call or communicate by email with the faculty responsible for a given lecture during the week of such lecture, if clarification of specific points is needed. XI. CLINICAL CASE STUDIES AND CUMULATIVE QUESTIONS Genetics is a cumulative, integrated discipline. Because of this, key concepts taught in one section of the course often reemerge later. A few lectures have been identified as “Core Content Lectures” (identified by “*” on the schedule). Foundational material from these lectures will be used in subsequent modules and on their exams. Students will also be responsible for material from the Clinical Case Studies in a cumulative manner. The case studies represent classic genetic diseases that illustrate core concepts in genetics. Many cases will be presented within the course; however, most have an additional reading assignment (2 pages per disease) to encourage self-study and compliment course materials. You must create your own study material for the case studies. The table below lists the diseases assigned for each module and resources that should be used for study. Clinical Cases for Cumulative Questions Module Case Presentation Source for information
  • 6. Neurofibromatosis 1 Website – Fundamentals / Case Studies Hemophilia A and B Case Studies / Bioc – Chest Pain Cystic Fibrosis Case Studies Fundamentals Huntington Disease Case Studies Achondroplasia Case Studies Deafness (Nonsyndromic) (GJB2 mutation) Case Studies † Sex Reversal (SRY mutation/translocation) Case Studies † Down Syndrome CA lecture * Trisomy 18 (Edwards Syndrome) CA lecture Trisomy 13 (Patau Syndrome) CA lecture Polyploidy CA lecture 5p-or Cri-du-chat Syndrome CA lecture Angleman Syndrome CA lecture Prader-Willi Syndrome Case Studies / CA lecture Abnormal Turner Syndrome Case Studies / CA lecture Amniocentesis Klinefelter Syndrome (XXY males) CA lecture XYY Syndrome CA lecture Fragile X Syndrome Case Studies Xeroderma pigmentosum Case Studies Osteogenesis imperfecta Website – AA / Biochem – AA module Intrauterine Growth Restriction Case Studies † CHARGE Syndrome Case Studies † Duchene Muscular Dystrophy Case Studies / Clinical Framework Muscle Myoclonic Epilepsy w/ Ragged-Red Fibers Case Studies / AV lecture Rett Syndrome Case Studies / Biochem – AA module Weakness Holoprosencephaly Case Studies Alzheimer disease Case Studies Familial Hypercholesterolemia Case Studies / Bioc: Lipids Marfan Syndrome Case Studies / CA lecture Chest Pain Tay-Sachs Disease Case Studies / Bioc: Lipids Long QT Syndrome Case Studies † Thrombophilia (FV and PROC mutations) Case Studies † Age-Related Macular Degeneration Case Studies † Hereditary Breast and Ovarian Cancer Case Studies Chronic Myelogenous Leukemia Case Studies Suspicious Familial Adenomatous Polposis Case Studies Lump Hereditary Nonpolyposis Colon Cancer Case Studies Retinoblastoma Case Studies / Gen: Neoplasia BB Thalassemia (α and β) Case Studies / Gen: Thal BK Sickle Cell Anemia Case Studies / Gen: Thal BK / Bioc: SCA Shortness of Glucose-6-Phosphate Dehydrogenase Case Studies / Biochem – Weight Loss module Breath Thiopurine S-Methyltransferase deficiency Case Studies † Crohn Disease Case Studies † Polycystic Kidney Disease Case Studies Failure to Phenylketonuria (PKU) Genetics CA lecture/ Biochem DF lecture Thrive Hereditary Homochromatosis Case Studies † Ornithine Transcarbamylase Deficiency Case Studies † * Indicates lecturer (CA – Dr. Carol Anderson, AV – Dr. Akhil Vaidya, BB – Bill Bergman, BK – Ben Kahn) ; Case Studies – purple pages in Thompson and Thompson (2007); † - These Case Studies are in the 2007 version of the textbook only. During the assigned module, students are responsible for knowing the disease name, its mode of inheritance, the type of mutation, the major phenotypic features, and its pathogenetic mechanism (how the mutation causes the disease). During subsequent modules after the disease is assigned, the student continues to be responsible for knowing its name and its mode of inheritance for ALL subsequent exams. For example, students will need to know that hemophilia A is X-linked recessive and cystic fibrosis is autosomal recessive for all exams because they are assigned in the first module; however, the students will not need to remember the other details until the end of the course.
  • 7. On the last module exam (Shortness of Breath and Failure to Thrive), there will be 30-35 cumulative questions. Approximately 85% of these questions will ask you to apply basic genetics concepts in the context of the Clinical Case Studies. Once again, you will need to know all of the aspects of each disease (name, mode of inheritance, type of mutation, major phenotypic features, and its pathogenetic mechanism). Many of these questions will be in the form of a clinical vignette where you will need to be able to identify the disease to complete the problem. Our goal is to provide a more clinical focus to the course and encourage you to think about basic science concepts in a more relevant fashion. To help you organize this material, we recommended that you create the following chart for each module. Generally speaking, students learn more if they complete this table individually. You are NOT allowed to use a table created by another student or simply copy one from another student. We will consider it an Honor Court violation to do so. On all exams Information for module specific exam and cumulative questions Mode of Pathogenetics (how the mutation causes the Genetic principles Disease inheritance / Major Phenotypic Features disease) Note: this is often beyond illustrated type of mutation the scope of this course. Fundamentals  Bleeding **  Lack of Factor VIII or IX X-linked recessive  Hemarthroses (extravasated blood impairs clotting X inactivation Hemophilia in joint) Variable expressivity A and B Single gene  Hematomas (extravasated blood in  Can be from mild to Replacement therapy mutation severe (life-threatening) tissue/organ)  Café au lait spots **, Lisch Pleiotropy Autosomal nodules ** (pigmented Mutation in NF1 results in an Variable expressivity dominant hamartomas of the iris), and abnormality of cellular Neurofibromatosis Allelic heterogeneity cutaneous and subcutaneous proliferation. Gene normally 1 Epistatic factors Single gene neurofibromas *** acts as a tumor suppressor Sporadic mutation mutation  Increased risk for malignancies gene. Germline mosaicism and learning disabilities Abnormal Amniocentesis  Cat-like cry **  Severe mental retardation  Microcephaly Continuous gene 5p-or Cri-du-chat Loss of multiple genes Chromosomal  Low birth weight syndrome Syndrome (continuous gene syndrome) on Deletion (5p-)  Round face Reciprocal “Cry of the cat” the short end of chromosome 5  Hypertelorism (wide set eyes) translocation  Low set ears  Epicanthal folds Genomic imprinting results in different expression of maternal and paternal genes on Microdeletion  Mental retardation Chromosomal chromosome 15 (individuals Genomic imprinting Angleman  Ataxic gait Microdeletion must receive normal copies Epigenetic control Syndrome  Seizures (chromosome 15) from both parents). A Uniparental disomy  Inappropriate laughter ** microdeletion in this area or uniparental disomy results in abnormal gene expression. ** - most important identifying features Note: You will not find all of the information for each disease in the references given. In some cases, this is because we do not fully understand the disease. Complete the chart with the information that you have. Questions will come from the referenced sources. At the beginning of the year, you might not be familiar with all of the terminology and mutation types. Most of this material will be made clear by the end of the Abnormal Amniocentesis module.

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