Veidlapa Nr. M-3 (8)

Study Course Description

Clinical Molecular Genetics

Main Study Course Information

Course Code

RGN_039

Branch of Science

Clinical medicine; Medicinal Genetics

ECTS

14.00

Target Audience

Medicine

LQF

Level 8

Study Course Implementer

Course Supervisor

Madara Rēdele

Residency Speciality

Speciality

Medical Geneticist

Supervisor of Medical Speciality

Madara Rēdele

Contacts

About Study Course

Objective

To introduce the medical genetics resident to the indications, methods, and evaluation of results of molecular diagnostic testing.

Learning Outcomes

Knowledge

1.During the time allotted for the study course, medical genetics resident acquires basic knowledge in molecular diagnostics, is able to orient in the possibilities of the latest technologies.

Skills

1.As a result of completing the study course, the medical genetics resident will be able, according to the indications, to choose the appropriate molecular diagnostic test, as well as interpret it.

Competences

1.After successful completion of the study course, the medical genetics resident has acquired the mandatory competence. The medical resident’s knowledge corresponds the overall understanding of the patient’s molecular investigation. Able to draw up an appropriate investigation plan for establishing a diagnosis, prescribe examinations. Knowledge of the specific problem is sufficient to understand its essence, to diagnose and, if necessary, provide emergency assistance, implement diagnostic, treatment and preventive measures under the guidance of a specialist.

Assessment

Individual work

Title	% from total grade	Grade
1. Individual work	-	-
To search for phenotypic and genotypic correlations of genetic variation using evidence-based electronic databases; Using evidence-based databases of scientific literature, to create an individualised disease description for patients with a syndromic-monogenic, chromosomal or inherited pathology.

Examination

Title	% from total grade	Grade
1. Examination	-	-
At the end of the course, teaching staff: 1. Assesses the practical skills acquired by medical genetics resident on a 10-point scale, recording the assessment in the medical resident’s book. 2. Assesses the theoretical knowledge of the medical genetics resident on a 10-point scale after a written examination – a multiple-choice test, recording the assessment in the medical resident’s book.

Study Course Theme Plan

FULL-TIME

Part 1

Seminar

Modality	Location
-	-

Topics

Introduction to molecular investigation, review and comparison of methods.

Seminar

Modality	Location
-	-

Topics

DNA extraction, polymerase chain reaction, restriction endonucleases.

Seminar

Modality	Location
-	-

Topics

Electrophoresis in agarose and PAA gel, DGGE, SSCP, RT PCR, (SNVs, SNPs), qPCR, RT-qPCR, (VNTRs, STRs).

Seminar

Modality	Location
-	-

Topics

Principles of Sanger sequencing analysis, indications, data analysis, interpretation. Advantages and disadvantages. SNIP. CNV

Seminar

Modality	Location
-	-

Topics

Principles of next generation gene sequencing analysis, indications, data analysis, interpretation.

Seminar

Modality	Location
-	-

Topics

Advantages and disadvantages of NGS panels compared to WES.

Seminar

Modality	Location
-	-

Topics

Mitochondrial DNA, heteroplasmy.

Seminar

Modality	Location
-	-

Topics

NGS panel with CNV compared to CMA.

Seminar

Modality	Location
-	-

Topics

Molecular confirmation of unclear clinical cases

Seminar

Modality	Location
-	-

Topics

Identification of deep intronic mutations, inversions (long reads), splice-site mutations, cis or trans allele status

Seminar

Modality	Location
-	-

Topics

Methylation disorders, increase in the number of trinucleotide repeats (Southern blot).

Seminar

Modality	Location
-	-

Topics

Principles of MLPA analysis, indications, data analysis, interpretation. Advantages and disadvantages of MLPA (whole-exon deletions).

Total ECTS (Creditpoints):

14.00

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: 6th Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 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. In Preimplantation Genetic Diagnosis, 2nd 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

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

OMIM. https://omim.org

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

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

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

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

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

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

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

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

10.

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

11.

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

12.

Varsome. https://varsome.com/