Veidlapa Nr. M-3 (8)
Study Course Description
Clinical Genetics II
Course Code
RGN_015
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
7.00
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Daiga Mūrmane
Residency Speciality
Speciality
Medical Geneticist
Supervisor of Medical Speciality
Madara Rēdele
Contacts
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About Study Course
Objective
To provide the medical genetics resident with theoretical knowledge and practical skills and improve them in order to prepare the doctor for certification in the speciality of medical genetics in accordance with the rules and regulations of the Republic of Latvia.
Learning Outcomes
Knowledge
1.Medical genetics resident defines the role of genetic factors in health maintenance, as well as in the development of congenital and multi-factorial diseases, role of genes and teratogenes in development of human congenital anomalies. To describe how changes in chromosomes and DNA change the function or number of genes, main monogenetic and other types of inheritance. To describe the clinical signs of the most common congenital monogenetic and chromosomal diseases. To understand the clinical meaning of penetrance, variable expression, anticipation, and new mutation.
Skills
1.To gather family anamnesis, draw and interpret the family tree, recognize patients with a genetic disease of risks of development of a genetic disease, to give genetic advice in accordance with the goals, methods and practice adopted, to calculate the monogenetic diseases’ recurrence risk, explain the concept of risk to a patient understandably, provide the genetic information understandably, and to allow the patient and his/her family to make the decision.
Competences
1.After a successfully completed study course, the medical genetics resident has acquired the mandatory competence. Selects the examination plan appropriate for setting the diagnosis, prescribes examinations; assesses the potential heterogeneity of a genetic diseases and its impact on diagnostics; sets a genetic diagnosis in accordance with the evidence-based medical practice; provides the patient with information on the hereditary mechanism of a genetic disease, family planning, course of disease and prognosis; recommends the consultations of other specialists appropriate for the medical issues development of which is characteristic for the particular genetic syndrome; prescribes medication specific to genetic diseases, is able to create an examination plan appropriate for setting the diagnosis, to prescribe examinations. Knowledge of the given issue is sufficient to understand its essence, to diagnose and provide with emergency assistance, when necessary, to implement diagnostics, treatment, and preventive measures under the guidance of a specialist.
Assessment
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Study Course Theme Plan
FULL-TIME
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Total ECTS (Creditpoints):
7.00
Number of Residency Seminars:
19
Length (weeks):
5
Final Examination:
Residency exam (Theory and practice)
Bibliography
Required Reading
1.
Gross, S. J. Introduction to Perinatal Disorders and Reproductive Genetics. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics. https://doi.org/10.1016/b978-0-12-815236-2.00001-1, 2022
2.
Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. https://doi.org/10.1002/9781444314342, 2010
3.
Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics. https://doi.org/10.1016/C2016-0-05333-0, 2018
4.
Harper, J. C. Preimplantation genetic diagnosis, second edition. In Preimplantation Genetic Diagnosis, Second Edition. https://doi.org/10.1017/CBO9780511581571, 2009
5.
DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges. https://doi.org/10.1002/9780470696262, 2010
6.
Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities. https://doi.org/10.1016/c2010-0-67979-x, 2015
7.
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies. https://doi.org/10.4324/9780429462450, 2018
8.
Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015
9.
Harper, P. Practical Genetic Counselling (7th ed.). CRC Press, 2011
10.
Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010
11.
Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021
12.
Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020
13.
Reardson, W. The Bedside Dysmorhologist. Oxford, 2016
14.
Jones, Kenneth L, Marilyn C. Jones, and Miguel . Campo. Smith's Recognizable Patterns of Human Malformation, 2013
15.
Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier, 2017
16.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017
17.
Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016
18.
Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016
19.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019
20.
Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007
Other Information Sources
1.
OMIM. https://omim.org
2.
3.
Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/
4.
Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer
5.
Varsome. https://varsome.com/
6.
Reprotox. https://www.reprotox.org/
7.
Metagene. https://www.metagene.de/
8.
Vademecum Metabolicum. http://www.vademetab.org/
9.
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
10.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol 2., Springer. 2014
11.
12.
Treat NMD. https://treat-nmd.org/
13.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503