Medical Genetics

Title	% from total grade	Grade
1. Individual work	-	-
Individual work with the lecture and practical classes materials, recommended literature, according to the topics of lectures and practical classes. Analysis of scientific publications to acquire deeper understanding of the study course topics (if necessary). Preparation for regular pre-class tests. Tasks related to risk calculation for monogenic disorders and karyotype analysis. Problem sets are in e-studies. Preparation for Upon completion the study course, fill in the study course evaluation questionnaire.

Title	% from total grade	Grade
1. Examination Darba veids Pārbaudījums Pārbaudījuma veids Cits Virsraksts Virsraksts (EN)	-	10 points
Regular attendance and active participation in workshops; answers to previously known questions during classes, end-of-topic colloquium – examination of acquired theoretical knowledge and practical skills, clinical application. At the end of the third semester, an examination from the cumulative assessment. The cumulative assessment shall include: marks from two successful colloquiums (75%), responses during classes (15%) and presentations on mechanisms and options for molecular genetics-based therapy (10%). The examination shall be conducted in writing, consisting of two open-type questions and 5 practical tasks, by students who have not obtained a successful assessment in the cumulative assessment. Students are given the opportunity to demonstrate understanding of important genetics laws and their association with human pathology.

Medical genetics. History (additional material). Mendelis genetics. Gene interaction, complete, incomplete association. Domination, imperfect domination, coding, epistasis. Pedigree symbols (additional material). Types of genetic variants (additional material).

Autosomal dominant (AD) I inheritance pattern. Characteristic features of this inheritance pattern. Classic pedigree examples. Marfan syndrome. Neurofibromatosis. Achondroplasia.

Autosomal dominant inheritance pattern II Familial hypercholesterolemia Charcot–Marie–Tooth disease type 1A Huntington’s chorea (Huntington disease)

Autosomal recessive (AR) inheritance pattern. Characteristic features of this inheritance pattern. Classic pedigree examples. Cystic fibrosis. Spinal muscular atrophy. Phenylketonuria. Hardy–Weinberg equation. Sickle cell anemia.

X-linked inheritance pattern, characteristic features, pedigree examples. Fabry disease. Duchenne muscular dystrophy. Rett syndrome. Hemophilia. Fragile X syndrome.

Mitochondrial diseases. Mitochondrial inheritance pattern and nuclear gene–caused disorders. Heteroplasmy. Criteria of inheritance patterns. MELAS syndrome. Leigh syndrome. Mitochondrial DNA depletion syndrome.

Multifactorial inheritance pattern. Autism spectrum disorders. Cleft lip / cleft palate. Pyloric stenosis. Clubfoot. Celiac disease. HLA alleles

Chromosomal disorders – numerical and structural abnormalities of autosomes and sex chromosomes. Down syndrome. Patau syndrome and Edwards syndrome. Klinefelter syndrome. Turner syndrome. Karyotype notation (supplementary material).

Chromosomal structural abnormalities, their types. Recurrent and non-recurrent deletions/duplications. Microdeletion / microduplication syndromes. 22q11 deletion. Williams syndrome. 16p11.2 deletion / duplication.

Epigenetics. DNA methylation. X-chromosome inactivation. Behavioral epigenetics. Imprinting, significance, pedigree. Diseases: Prader–Willi syndrome. Angelman syndrome. Beckwith–Wiedemann syndrome. Silver–Russell syndrome.

Sex differentiation. Disorders of sex differentiation (DSD). 46, XX DSD. 46, XY DSD.

Infertility – female, male, diagnostics. Assisted fertilization. Preimplantation diagnosis.

Cancer genetics. Cell life cycle, death, checkpoints, apoptosis, necrosis. Retinoblastoma. Breast / ovarian cancer. Lynch syndrome.

Pharmacogenetics I. Xenobiotic metabolism. Cytochrome system. Personalized medicine.

Pharmacogenetics II. Examples of therapies for different genetic diseases.

Eugenics. Newborn screening. Genetic screening.

Mendelian genetics problems, Mendelian traits in humans, trait expression. Blood group genetics.

Autosomal dominant (AD) inheritance pattern. Bayes method. Pedigree analysis.

Autosomal dominant inheritance pattern. Problem solving.

Autosomal recessive inheritance pattern. Pedigree examples. Hardy–Weinberg equation. Problem solving.

X-linked inheritance pattern. Typical pedigrees and problem solving.

Mitochondrial inheritance pattern. Heteroplasmy. Clinical cases.

Comparison of monogenic and multifactorial types. Concordance tasks. Risk calculations.

Colloquium I

Changes in chromosome number. Karyotype notation. Recurrence risks.

Changes in chromosome structure. Karyotype notation. Recurrence risks.

Epigenetics. Imprinting. Pedigree examples. Risk calculation.

Sex differentiation and its disorders. Solving clinical cases. Infertility, its possible solutions. The role of genetics in it.

Cancer genetics. Clinical cases. Clinical interpretation of genetic variants.

Pharmacogenetics. Personalized medicine.

Student presentations on innovative therapeutic options for genetic diseases.

Student presentations on innovative therapeutic options for genetic diseases. II

Colloquium II

Discussion on genetic screenings and eugenics.