Veidlapa Nr. M-3 (8)
Study Course Description
Clinical Molecular Genetics
Course Code
RGN_018
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
10.05
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Daiga Mūrmane
Residency Speciality
Speciality
Medical Geneticist
Supervisor of Medical Speciality
Daiga Mūrmane
Contacts
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About Study Course
Objective
To introduce the medical genetics resident to the most common problems encountered in a clinical molecular genetics.
Learning Outcomes
Knowledge
1.During the study course, medical genetics resident acquires basic knowledge of clinical molecular genetics.
Skills
1.As a result of this study course, medical genetics resident will be able to select the appropriate molecular examination based on indications and interpret the result obtained
Competences
1.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):
10.05
Number of Residency Seminars:
12
Length (weeks):
8
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.
Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007
12.
Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021
13.
Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020
14.
Reardson, W. The Bedside Dysmorhologist. Oxford, 2016
15.
Jones, Kenneth L, Marilyn C. Jones, and Miguel . Campo. Smith's Recognizable Patterns of Human Malformation, 2013
16.
Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier, 2017
17.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017
18.
Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016
19.
Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016
20.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1, Vol. 2., Springer, 2014
21.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springe, 2019
Other Information Sources
1.
OMIM. https://omim.org
2.
3.
Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/
4.
Reprotox. https://www.reprotox.org/
5.
Metagene. https://www.metagene.de/
6.
Vademecum Metabolicum. http://www.vademetab.org/
7.
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
8.
Treat NMD. https://treat-nmd.org/
9.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503
10.
11.
Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer
12.
Varsome. https://varsome.com/