Veidlapa Nr. M-3 (8)

Study Course Description

Clinical Biochemical Genetics

Main Study Course Information

Course Code

RGN_037

Branch of Science

Clinical medicine; Medicinal Genetics

ECTS

34.00

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 genetic biochemical testing. Amino acid and organic acid screening for genetic pathology. Disorders of mucopolysaccharide, carbohydrate, fatty acid metabolism. Medical genetic counselling in case of an acute metabolic crisis.

Learning Outcomes

Knowledge

1.- Classification and molecular basis of inherited metabolic diseases. - Diagnosis and treatment of inherited metabolic diseases. - To know the tests available for metabolic diseases. - Acute conditions associated with inherited metabolic diseases, recognition, investigation and treatment thereof. - Diagnosis and treatment of hyperammonemia. - Newborn screening. - Symptoms, diagnosis and treatment options for mitochondrial pathology.

Skills

1.- To take a clinical and family medical history. - To examine the patient, evaluate the neurological status. - To prescribe and explain appropriate biochemical and genetic tests. - To prescribe pharmacotherapy, diet.

Competences

1.After successful completion of the study course, the medical genetics resident has acquired the mandatory competence. 1. Recognises the symptoms of a disease, leading to a working hypothesis. 2. Is able to make a differential diagnosis and prepare an appropriate biochemical and genetic testing plan. 3. Recognises acute conditions in inherited metabolic diseases. Is able to provide emergency care and treatment if available. 4. To initiate treatment in patients with inherited metabolic diseases. 5. Is able to make timely and appropriate onward referrals of patients to specialists. 6. To provide dynamic monitoring for patients with very rare and severe diseases.

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

Amino acid (HPLC) and organic acid (GC/MSD) screening in the diagnosis of inherited metabolic disorders.

Seminar

Modality	Location
-	-

Topics

Identification of purines and pyrimidines in urine (HPLC).

Seminar

Modality	Location
-	-

Topics

Classification of metabolites based on knowledge of the medications taken, food intake, etc. Indications for re-examination.

Seminar

Modality	Location
-	-

Topics

Interpretation of non-specific changes in amino acid and organic acid spectra.

Seminar

Modality	Location
-	-

Topics

Pathologies of mucopolysaccharide and carbohydrate metabolism, diagnostic algorithm, confirmatory genetic testing.

Seminar

Modality	Location
-	-

Topics

Identification of CDG.

Seminar

Modality	Location
-	-

Topics

Interpretation of carnitine analysis results. (Tandem mass spectrometry).

Seminar

Modality	Location
-	-

Topics

Association of the patient’s clinical picture or severity of symptoms with specifically altered genetic test results

Seminar

Modality	Location
-	-

Topics

Expanded newborn screening in Latvia

Total ECTS (Creditpoints):

34.00

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. 2nd Edition. In Preimplantation Genetic Diagnosis, 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 Edition. 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., Springe, 2014

21.

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

Other Information Sources

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

OMIM. https://omim.org

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

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

Varsome. https://varsome.com/

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

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

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

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

10.

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

11.

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

12.

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