Veidlapa Nr. M-3 (8)
Study Course Description
Clinical Genetics I
Course Code
RGN_001
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
38.00
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 learns the chapters of genetic anamnesis, to draw a family tree, assess the patient's physical condition, basics of dysphormology and to determine the types of heredity. To create an examination plan based in international guidelines and evidence-based data bases, to be able to differentiate a potential genetic pathology. To determine hereditary risk factors. To advise patients and families with certain genetic pathologies.
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. Medical genetics patient must be able to define the ethical and psychological issues. As a result of study course, the medical genetics resident will be able to analyse the autopsy report.
Competences
1.Medical genetics resident learns the chapters of genetic anamnesis, to draw a family tree, assess the patient's physical condition, and the basics of dysphormology; to determine types of heredity, to create an examination plan based on international guidelines and evidence-based data bases, to be able to differentiate a potential genetic pathology, to determine hereditary risk factors, to give advice to patients and families with certain genetic pathologies.
Assessment
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Study Course Theme Plan
FULL-TIME
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Total ECTS (Creditpoints):
38.00
Number of Residency Seminars:
18
Length (weeks):
29
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, 2022
2.
Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 6th Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 2010
3.
Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics., 2018
4.
Harper, J. C. Preimplantation genetic diagnosis, second edition. In Preimplantation Genetic Diagnosis. 2nd Edition, 2009
5.
DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges, 2010
6.
Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities, 2015
7.
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies, 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 Edition. 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.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2. Springer, 2014
20.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019
21.
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.
11.
Treat NMD. https://treat-nmd.org/
12.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503