Clinical Genetics - DA0108325

• Title: Clinical Genetics
• Guaranteed by: Department of Biology and Medical Genetics (13-716)
• Faculty: Second Faculty of Medicine
• Actual: from 2024
• Semester: winter
• Points: 2
• E-Credits: 2
• Examination process: winter s.:
• Hours per week, examination: winter s.:0/30, C+Ex [HT]
• Extent per academic year: 1 [weeks]
• Capacity: unknown / unknown (unknown)
• Min. number of students: unlimited
• 4EU+: no
• Virtual mobility / capacity: no
• State of the course: taught
• Language: English
• Teaching methods: full-time
• Teaching methods: full-time
• Is provided by: DA1108325
• Guarantor: prof. MUDr. Milan Macek, DrSc.
• Classification: Medicine > Clinical Disciplines
• Pre-requisite : DA0105439
• Is pre-requisite for: DA0110068, DA0110315

Annotation

Signifikance of genetics in medicine, basis of mocular medicine, biotechnology, gene therapy, methods of clinical genetics, genetical counselling, prenatal diagnostic, clinical cytogenetics, inborn errors of metabolism. Independent solving of selected cases of clinical genetics, discussions.

Last update: HABET (15.10.2012)

Course completion requirements

Accessing the exam is possible after completion of the course.

The allowed absence is 20% of the total tuition.

Last update: Dimitriou Alena, Bc. (29.03.2017)

Literature

Connor, J. M.: Essential medical genetics : Wiley-Blackwell, 2011 (available as ebook)

Harper, P. S.: Practical genetic counselling : 6th ed. Oxford University Press, 2004 (B)

Passarge, E.: Color atlas of genetics : 3th ed. Thieme Verlag, 2007 (B)

Jorde, L.B., John, C.C., Bamshad, M.J. : Medical Genetics: With STUDENT CONSULT Online Access (A)

Read, A. , Donnai, D. : New Clinical Genetics (A)

Sermon. K., Viville, S.: Textbook of Human Reproductive Genetics (E)

Strachan, T., Goodship, J., Chinnery, P.: Gennetics and genomics in medicine (E)

Last update: Dimitriou Alena, Bc. (07.10.2016)

Syllabus

Clinical Genetics

Introduction:

importance of genetic counseling,

indications to genetic laboratory testing,

characterization and etiology of genetic diseases,

targets and methods of genetic testing.

Genetic in medicine:

cooperation of general paediaticians with geneticists,

multidisciplinary genetic care,

genetics of multifactorial disorders,

pharmacogenetics,

“DTC” testing, gene therapy, epigenetics, personalised medicine.

Genetic diagnostics and practical applications:

molecular diagnostic situation in clinical genetics,

new generation sequencing,

molecular cytogenetic diagnostics,

modern approaches in clinical genetics.

Specialized genetic counseling:

principles of clinical dysmorphology: variation of the norm,

oncogenetics and diagnostic scenarios,

cardiogenetics and diagnostic scenarios,

neurogenetics, genetics of sensory disorders, genetics of intellectual disability and autistic spectrum disorders,

inherited metabolic disorders and newborn screening.

Prenatal and perinatal care:

primary prevention of congenital anomalies (teratogenesis),

periconceptional, prenatal and perinatal care, laboratory methods.

Practical training:

syndromology,

patient demonstration,

searching in genetic databases.

Last update: Dimitriou Alena, Bc. (11.11.2016)