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Lecture series on Human Genetics for Medical Students (2nd clinical academic year)

The aim of this series is to place human genetics in a more direct relationship to clinical practice. Multiple case studies are presented and analyzed.

Clinical genetics

Clinical genetics overlaps with all other medical disciplines. Most medical disciplines involve the management of genetic disorders. For example, genetic tumor syndromes are common findings in internal medicine, surgery, and gynecology; genetic neurodegenerative diseases are frequent in neurology; and children with intellectual disabilities are frequently seen in pediatrics. The task of the human geneticist is to determine whether a particular clinical presentation results from a genetic disease, and to assign a specific diagnosis. This enables an evaluation of disease prognosis. In addition, the diagnosis of a genetic disorder often influences the selection of further diagnostic and (increasingly) therapeutic procedures. This represents a form of personalized medicine.

Another feature of the field of Human Genetics is that in addition to the patient, attention is paid to the respective family. The healthy relatives of genetic disorder patients often request predictive testing. Since the presence of a genetic illness can also influence family planning, human geneticists cooperate closely with colleagues from prenatal medicine.

Patients are seen either on a consultative basis, or within the context of a genetic counseling session. Here, a decision is made as to whether a diagnostic procedure is indicated, and if so, which type of procedure should be carried out. A distinction must be made between cytogenetic and molecular genetic diagnostics. Due to rapid technological developments and the resulting expansion in novel findings, the scope of these approaches is increasing. At present, Human Genetics probably represents the medical field with the greatest ongoing increase in knowledge.

Academic program in human genetics

As part of our lecture series, all important genetic disorders are presented in a practice-oriented manner. A key aspect of the program is that lectures on individual disorders are organized in accordance with clinical specialties. Each lecture concludes with a case presentation. Here, the student is expected to assign a diagnosis by taking a full clinical and family history.

The first lectures deal with clinical presentations that are diagnosed cytogenetically. Here, the cytogenetic backgrounds of pre- and postnatal diagnostics are addressed. Subsequently, the basics of molecular-genetics are explained, and the corresponding clinical manifestations are presented according to the respective medical specialty. A key scientific focus of the Center for Human Genetics is the analysis of multifactorial disease. Another issue covered in the lecture series is the extent to which new findings in this field - in the form of so called Polygenic Risk Scores - will influence future clinical diagnostics and risk stratification.

The lectures address the following topics:

  • Cytogenetics in postnatal diagnostics

Topics: Basics of cytogenetic and molecular cytogenetic diagnostics, nomenclature of chromosomal changes (numerical, structural) and corresponding clinical presentations, special features of prenatal diagnostics, prenatal diagnostic methods, and their areas of application, frequent indications for prenatal diagnostics

  • Overview of molecular genetics

Topics: variability of the human genome, architecture of genetic diseases, importance of the field of human genetics within medicine, genetic counseling

  • Hematologically-relevant hereditary diseases

Topics: sickle cell anemia, beta thalassemia, hemophilia A, APC resistance, heterozygote advantage, consanguineous marriage, CRISPR / Cas as a state-of-the-art therapeutic approach

  • Hereditary diseases of the cardiovascular system

Topics: Noonan syndrome, 22q11 microdeletion syndrome, hypertrophic cardiomyopathy (HCM), Long-QT syndrome, RASopathies, predictive diagnostics, Genetic Diagnostics Act (GenDG), de novo mutations, germ cell mosaics

  • Molecular genetic diseases - Pediatrics

Topics: Rett syndrome, Fragile X syndrome, Prader Willi syndrome, Angelman syndrome, imprinting defects, abortion §218, anticipation

  • Gynecologically-relevant hereditary diseases

Topics: Hereditary Breast and Ovarian Cancer (HBOC), Adrenogenital Syndrome (AGS), Recurrent abortion, Polygenic Risk Scores, Reproductive Medicine (including ICSI))

  • Oncologically relevant hereditary diseases

Topics: Lynch syndrome (HNPCC), multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2 (MEN2), neurofibromatosis type 1 (NF1), 2-hit hypothesis of Knudson (germline, somatic mutations), DNA repair- genes, oncogenes, de novo mutations

  • Neurologically-relevant genetic diseases

Topics: Huntington's chorea, myotonic dystrophy, spinal muscular atrophy (SMA), Becker / Duchenne type muscular dystrophy, trinucleotide diseases, linkage, indirect genotype diagnosis, in-frame and frame-shift mutations, anticipation

  • Hereditary diseases of the skeletal / connective tissue system

Topics: Marfan syndrome, Ehlers-Danlos syndrome, achondrodysplasia, osteogenesis imperfecta, paternal age, pleiotropy, de novo mutations

  • Hereditary Diseases - Internal Medicine & Endocrinology

Topics: Cystic Fibrosis, Familial Hypercholesterolemia, Hemochromatosis, Autosomal-Dominant Polycystic Kidney Disease