Faculty of Medicine
‫הפקולטה לרפואה‬
‫ גדילה והתפתחות‬,‫ רבייה‬,‫גנטיקה‬
‫חן‬-‫ ד"ר חוה גיל‬:‫מרצי הקורס‬
‫זכאי‬-‫ד"ר ציפורה פליק‬
‫ שנתי‬4 MD ‫ מסלול‬,'‫ מקבץ – שנה א‬:‫סוג הקורס‬
)‫ שעות‬120( ‫ ש"ש‬4 :‫היקף שעות‬
'‫ ב‬:‫( סמסטר‬2012-2013) ‫ תשע"ג‬:‫שנת לימודים‬
:‫תאריכי הקורס‬
:‫ מטרות הקורס‬.‫א‬
This course is designed to introduce students to the molecular and clinical aspects of
genetics, the reproductive system, embryology and pregnancy, child growth and
development. Students will already have learned some embryology in their Anatomy course.
The students will learn the basic concepts of each topic followed by related diseases and
abnormalities, and updated case studies for each topic.
The course will encourage clinical exposure of the students and will include visits to IVF
clinic, a genetic counseling center, and a child development clinic.
The course will consist of lectures, CBL groups, required reading, and clinical site visits
:‫ נושאי הלימוד‬.‫ב‬

Basic genetics

Clinical genetics

Structure and function of the male and female reproductive system

Abnormalities of the reproduction system

Principles of reproductive system therapeutics

Pregnancy, childbirth, and the puerperium

Disorders relating to pregnancy and the postpartum period

Psychological and social factors

Infancy and childhood, adolescence
:‫ מטלות הקורס‬.‫ג‬
‫חובת השתתפות בכל השיעורים ובביקורים‬

‫ברירה אחרי כל נושא‬-‫תתקיים בחינת רב‬

‫ ממוצע‬65 ‫ציון עובר‬

Bar-Ilan University (RA), Faculty of Medicine in the Galilee, Henrietta Szold st. 8, POB 1589 Saf ed, Israel
www.biu.ac.il • ‫ ישראל‬,‫ צפת‬1589 .‫ד‬.‫ ת‬, 8 ‫ רח' הנרייטה סאלד‬,‫ הפקולטה לרפואה בגליל‬, ) ‫ אילן (ע"ר‬- ‫אוניברסיטת בר‬
Faculty of Medicine
‫הפקולטה לרפואה‬
:‫ תכנית ההוראה וביבליוגרפיה לפי נושאים‬.‫ד‬
Topic 1: Basic genetics
Lesson 1 (6 hours)
• Basic molecular principles – DNA/RNA structure, replication, transcription,
regulation
translation,
• Chromosome structure and abnormalities, human sex determination
• Mutations in the genome and their effects, Mendelian inheritence of mutations
Reading: selected sections from Thompson
Chapter 2 – the human genome, chromosome structure, meiosis, mitosis, fertilization
Chapter 3 – gene structure and function (DNA, RNA, protein)
Chapter 5 – principals of clinical cytogenetics
Chapter 6 – disorders of autosomes and sex chromosomes
Chapter 7 – patterns of single gene inheritence (Mendelian, X-linked…..)
Chapter 9 – genotype-phenotype connection and polymorphisms (variation)
Lesson 2 (6 hours)
• Population genetics: Hardy-Weinberg law, founder effects, mutation-selection equilibrium
• Epigenetics
• Multifactorial inheritance
• Genetics of embryogenesis: programmed gene expression, tissue differentiation and
morphogenesis, homeotic genes, and developmental regulation of gene expression
Reading:
Read, chapters7, 10.
Thompson, chapters 8.14
Topic 2: Clinical genetics
Lesson 3 (6 hours)
• Principles of pedigree analysis, including inheritance patterns, occurrence and recurrence
risk determination.
• Molecular methods of studying patient’s DNA and mutations and mapping of genes for
Mendelian diseases
• Diseases of chromosomal abnormalities
Bar-Ilan University (RA), Faculty of Medicine in the Galilee, Henrietta Szold st. 8, POB 1589 Saf ed, Israel
www.biu.ac.il • ‫ ישראל‬,‫ צפת‬1589 .‫ד‬.‫ ת‬, 8 ‫ רח' הנרייטה סאלד‬,‫ הפקולטה לרפואה בגליל‬, ) ‫ אילן (ע"ר‬- ‫אוניברסיטת בר‬
Faculty of Medicine
‫הפקולטה לרפואה‬
Reading:
Read, chapters 1,4,5,9
Lesson 4 (6 hours)
• Genetic testing and screening, prenatal diagnosis, newborn screening, genetic counseling
– probability calculations
• Gene therapy
Reading:
Thompson, chapter 15
Read, chapter 14
Lesson 5 (6 hours)
• Personalized medicine, human genome project databases.
• Ethics and Law: religious beliefs, human dignity, autonomy, cultural norms, local context,
Israeli genetics law
Reading:
Thompson, chapters 17, 18, 20
Lesson 6 (6 hours/whole day)
Visit to Genetic clinic OR IVF clinic OR Meet a patient
Contact person:
Dr. Tzipora Falik-Zaccai, Western Galilee Hospital, Nahariya (Genetics)
Dr. Jacob Bornstein, Western Galilee Hospital, Nahariya (IVF)
Topic 3: Structure and function of the reproductive system
Lesson 7 (6 hours)
• Organ structure and function
– female structure, including breast
– female function (eg, menstrual cycle, puberty, menopause)
– male structure
– male function (eg, spermatogenesis, puberty)
Bar-Ilan University (RA), Faculty of Medicine in the Galilee, Henrietta Szold st. 8, POB 1589 Saf ed, Israel
www.biu.ac.il • ‫ ישראל‬,‫ צפת‬1589 .‫ד‬.‫ ת‬, 8 ‫ רח' הנרייטה סאלד‬,‫ הפקולטה לרפואה בגליל‬, ) ‫ אילן (ע"ר‬- ‫אוניברסיטת בר‬
Faculty of Medicine
‫הפקולטה לרפואה‬
– intercourse, orgasm
Lesson 8 (6 hours)
• Cell/tissue structure and function,
sexsteroids, and gestational hormones
including
hypothalamic-pituitary-gonadal
axis,
• Reproductive system defense mechanisms and normal flora
Reading:
Heffner Part 1 – normal human reproduction
Chapters 6-11, 14, 15, 16, 24.
Topic 4: Abnormalities of the reproduction system
Lesson 9 (6 hours)
• Infectious, inflammatory, and immunologic disorders (eg, toxic shock syndrome, breast
abscess, orchitis, sexually transmitted diseases, autoimmune hypogonadism, cystic mastitis)
• Traumatic and mechanical disorders (eg, female incontinence, prolapse, cystocele,
torsion of testis, varicocele, circumcision, phimosis)
• Neoplastic disorders (eg, female reproductive, male reproductive, breast [including
fibrocystic changes], trophoblastic disease)
Lesson 10 (6 hours)
• Metabolic and regulatory processes
- female (eg, anovulation, infertility, polycystic ovaries, endometriosis, orgasmic dysfunction,
delayed and premature puberty, menopausal syndrome)
- male (eg, infertility, impotence, gynecomastia, delayed and premature puberty, benign
prostatic hyperplasia)
• Systemic disorders affecting reproductive function (eg, obesity, cirrhosis, renal
failure)
• Genetic disorders affecting fertility: myotonic dystrophy, fragile X, cystic fibrosis, 21hydroxylase deficiency, hormone deficiencies, hormone resistance, Turner's syndrome,
Kleinfelter's, Y chromosome defects
Reading:
Norwitz, Chapters 7-11
Chapters 29-34
Bar-Ilan University (RA), Faculty of Medicine in the Galilee, Henrietta Szold st. 8, POB 1589 Saf ed, Israel
www.biu.ac.il • ‫ ישראל‬,‫ צפת‬1589 .‫ד‬.‫ ת‬, 8 ‫ רח' הנרייטה סאלד‬,‫ הפקולטה לרפואה בגליל‬, ) ‫ אילן (ע"ר‬- ‫אוניברסיטת בר‬
Faculty of Medicine
‫הפקולטה לרפואה‬
Topic 5: Principles of reproductive system therapeutics
Mechanisms of action, use, and adverse effects of drugs for treatment of disorders of
the reproductive system and management of normal reproductive function.
Potential teacher:
Lesson 11 (6 hours)
• Female reproductive tract:
– fertility drugs
– oral contraception, other methods of contraception (eg, condoms)
– estrogen-progestogen replacement, treatment of menopause
– stimulants and inhibitors of labor
– estrogen and progesterone antagonists
– stimulators and inhibitors of lactation
Lesson 12 (6 hours)
• Male reproductive tract:
– fertility drugs
– androgen replacement and antagonists
gonadotropin-releasing hormone and gonadotropin replacement
abortifacients
antimicrobials
antineoplastics
restoration of potency
Reading:
Norwitz , Chapters 25-28
Lesson 13 (6 hours/whole day)
Visit to Genetic clinic OR IVF clinic OR Meet a patient
Contact person:
Dr. Tzipora Falik-Zaccai, Western Galilee Hospital, Nahariya (Genetics)
Dr. Jacob Bornstein, Western Galilee Hospital, Nahariya (IVF)
Topic 6: Pregnancy, Childbirth, and the Puerperium
Bar-Ilan University (RA), Faculty of Medicine in the Galilee, Henrietta Szold st. 8, POB 1589 Saf ed, Israel
www.biu.ac.il • ‫ ישראל‬,‫ צפת‬1589 .‫ד‬.‫ ת‬, 8 ‫ רח' הנרייטה סאלד‬,‫ הפקולטה לרפואה בגליל‬, ) ‫ אילן (ע"ר‬- ‫אוניברסיטת בר‬
Faculty of Medicine
‫הפקולטה לרפואה‬
Lesson 14 (6 hours)
• Pregnancy, including ovulation, fertilization, implantation, labor and delivery, the
puerperium, lactation, gestational uterus, placenta.
• Embryonic development, fetal maturation, and perinatal changes
Lesson 15 (6 hours)
• Prenatal care (eg, nutrition; prevention of iron deficiency; prevention of vitamin deficiency;
Rh immunoglobulin prophylaxis; prenatal diagnosis; teratology, diabetes mellitus, urinary
tract infection, alpha-fetoprotein, rubella, genital herpes, streptococcal infections)
• Assessment of the at-risk pregnancy; risk of preterm labor
• Intrapartum care; signs of fetal compromise
• Contraception; sterilization; prevention of pregnancy after rape
Reading:
Norwitz ' Part 2: Obstetrics, Chapters 42-59, 68-70
Topic 7: Disorders relating to pregnancy and the postpartum period
Lesson 16 (6 hours)
• Obstetric complications (eg, ectopic pregnancy; spontaneous abortion/septic abortion;
hypertension; third-trimester bleeding; hydramnios; preterm labor, premature rupture of the
membranes, normal labor; multiple gestation; intrapartum fetal distress/fetal death;
maternal mortality; fetal growth and development abnormalities; congenital abnormalities;
gestational trophoblastic disease)
• Nonobstetric complications of pregnancy (eg, major medical complications and preexisting
medical conditions; surgical complications; hyperemesis gravidarum)
• Complications of the puerperium (eg, problems with breast-feeding; postpartum
hemorrhage; postpartum sepsis; postpartum depression, psychosis; mastitis; venous
thromboembolism)
Reading:
Norwitz Chapters 35-41, 60-67
Duek
Topic 8: Psychological and social factors
Bar-Ilan University (RA), Faculty of Medicine in the Galilee, Henrietta Szold st. 8, POB 1589 Saf ed, Israel
www.biu.ac.il • ‫ ישראל‬,‫ צפת‬1589 .‫ד‬.‫ ת‬, 8 ‫ רח' הנרייטה סאלד‬,‫ הפקולטה לרפואה בגליל‬, ) ‫ אילן (ע"ר‬- ‫אוניברסיטת בר‬
Faculty of Medicine
‫הפקולטה לרפואה‬
Lesson 17 (6 hours)
• Emotional and behavioral factors (eg, sexually transmitted diseases)
• Influence on person, family, and society (eg, infertility)
• Occupational and other environmental risk factors (eg, radiation)
• Family planning and pregnancy (eg, unwanted pregnancies)
• Gender identity, sexual orientation, sexuality, libido
• Sexual violence, rape, child abuse
Topic 9: Infancy, childhood, and adolescence
Lesson 18 (6 hours)
• Normal growth and development of the infant and child
Reading: Nelson
Lesson 19 (6 hours)
• Adolescence: sexuality; separation from parents/autonomy; physical changes of puberty
Reading: Heffner 12. puberty in boys, 13. puberty in girls
Lesson 20 (6 hours/whole day)
Visit to child development clinic
Dr. David Stavitzki (054-4365560), Western Galilee Hospital, Nahariya
Dr. Celia Kozakov (050-8434174), Ziv Hospital, Safed
Reading
* Thompson & Thompson genetics in medicine, by Robert MD Nussbaum, Roderick
McInnes, and Huntington Willard (Elsevier Publishing, 2007).
* New Clinical Genetics, by Andrew Read and Dian Donnai (Scion Publishing Ltd, 2007).
* The reproductive system at a glance, by Linda J. Heffner and Danny J. Schust (WileyBlackwell Publishing, Third edition).
* Obstetrics and gynaecology at a glance, by Errol R. Norwitz and John O. Schorge.
Bar-Ilan University (RA), Faculty of Medicine in the Galilee, Henrietta Szold st. 8, POB 1589 Saf ed, Israel
www.biu.ac.il • ‫ ישראל‬,‫ צפת‬1589 .‫ד‬.‫ ת‬, 8 ‫ רח' הנרייטה סאלד‬,‫ הפקולטה לרפואה בגליל‬, ) ‫ אילן (ע"ר‬- ‫אוניברסיטת בר‬
Faculty of Medicine
‫הפקולטה לרפואה‬
* Nelson textbook of pediatrics – Kliegman, Behrman, Jenson, and Stanton, Elsevier
publishing (2007).
Bar-Ilan University (RA), Faculty of Medicine in the Galilee, Henrietta Szold st. 8, POB 1589 Saf ed, Israel
www.biu.ac.il • ‫ ישראל‬,‫ צפת‬1589 .‫ד‬.‫ ת‬, 8 ‫ רח' הנרייטה סאלד‬,‫ הפקולטה לרפואה בגליל‬, ) ‫ אילן (ע"ר‬- ‫אוניברסיטת בר‬