Veidlapa Nr. M-3 (8)

Study Course Description

Clinical Genetics III

Main Study Course Information

Course Code

RGN_019

Branch of Science

Clinical medicine; Medicinal Genetics

ECTS

20.00

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

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

Individual work

Title	% from total grade	Grade
1. Individual work	-	-

Examination

Title	% from total grade	Grade
1. Examination	-	-

Study Course Theme Plan

FULL-TIME

Part 1

Seminar

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Seminar

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Seminar

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Seminar

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Topics

Total ECTS (Creditpoints):

20.00

Number of Residency Seminars:

Length (weeks):

Final Examination:

Residency exam (Theory and practice)

Bibliography

Required Reading

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

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

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

Harper, J. C. Preimplantation genetic diagnosis, second edition. In Preimplantation Genetic Diagnosis, Second Edition. https://doi.org/10.1017/CBO9780511581571, 2009

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

Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities. https://doi.org/10.1016/c2010-0-67979-x, 2015

Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies. https://doi.org/10.4324/9780429462450, 2018

Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015

Harper, P. Practical Genetic Counselling (7th ed.). CRC Press, 2011

10.

Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell.2010. Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007

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.

Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016

17.

Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016

18.

Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol.2., Springer, 2014

19.

Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019

Other Information Sources

OMIM. https://omim.org

Orphanet. https://www.orpha.net/consor/cgi-bin/index.php

Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/

Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer

Varsome. https://varsome.com/

Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017

Reprotox. https://www.reprotox.org/

Metagene. https://www.metagene.de/

Vademecum Metabolicum. http://www.vademetab.org/

10.

Metabolic Emergency Protocol. https://www.emergencyprotocol.net/

11.

NDC. https://neuromuscular.wustl.edu/

12.

Treat NMD. https://treat-nmd.org/

13.

NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503