Medical Genetics

The Department of Medical Genetics was established in 2011. Education in Medical Genetics of the Yerevan State Medical University after Mkhitar Heratsi (YSMU) is hosted at the Center of Medical Genetics and Primary Health Care (CMG). CMG offers a wide variety of training opportunities in medical and clinical genetics as the leading scientific and university center of genetic counseling, genomic technologies and molecular diagnostics.

Department staff members are highly experienced in teaching General Genetics, Medical Genetics, Molecular Genetics, Population Genetics, Human Cytogenetics, Cancer Genetics, Pharmacogenetics and Immunogenetics.The course of medical genetics has been carried out at the Department of Family Medicine since 1999. Afterwards, a discrete course in Molecular Medicine was created during 2004-2009.

This course provides an overview of the most important concepts in medical  genetics and molecular diagnostics of  the variety of genomic tests currently used in medical practice.

Prerequisites: One week of university-level lectures and practical course for students in Armenian, English, and Russian languages. Seminars and practical classes/workshops are excluded from the curriculum due to short duration of one-week course and are later offered during the residency courses.

The curriculum includes an overall picture of molecular basis of Gene Function and Mutations, Mendelian Genetics, Structure, Functions, and Variability of the Genome; Epigenetics in Health and Disease; methods of Molecular Diagnostics; Cytogenetics; Cancer Genetics; Congenital Malformations and Dysmorphogenesis; Hereditary Metabolic Diseases; Genetics of Neuromuscular Diseases; Hereditary Autoinflammatory Syndromes; Pharmacogenomics and Medical Genetic Counseling (1.5 credits).

The course is assessed by a test exam.

CLINICAL RESIDENCY PROGRAM:

Training will occur at the Center of medical genetics and primary health care (basic University educational center in medical genetics and genetic counselling).  The Clinical Residency Program is designed according to the teaching plan of Medical and Laboratory Genetics, as well as through medical genetic counseling by eight leading universities in Europe and two universities in Israel in the frames of the EU International Project “TEMPUS – MEDGEN”: “Developing Medical Genetics Education Through Curriculum Reforms And Establishment Of Postgraduate Training Programs”:Residents of the Department have the opportunity to study in the following specialties:

1.      MEDICAL GENETICSProgram for education and training in medical genetics and genetic counselling is comprised for trainees to provide genetic diseases diagnostics, risk assessment, genetic testing, screening and prevention programs.

Eligibility requirements: Training opportunities are available for fellows, physician trainees, physician assistants, graduate students completed full underdgraduate Medical University education.

Fellows/students assessment: Test-based and oral examinations.

CME Credits:90

• Examination of patients and clinical diagnostics;
• Medical genetic counseling of patients and families with a high risk of intrauterine and neonatal pathologies;
• Determination of the prognosis for progeny in families with hereditary burden.
• Interpretation of the results of genetic testing;
• Calculations of genetic risk for progeny according to international protocols.

Lectures, seminars, and practical classes/workshops are conducted in the following fields of study:

1)      Genome Medicine: study of extended gene panels to refine the diagnosis of a group of diseases with similar symptoms: hereditary diseases of blood, immune system, nervous system, reproductive, cardiovascular diseases, mental retardation, and neoplasms in patients of different age groups.

Study includes:

• Whole exome sequencing, including 20,000 genes: analysis and interpretation of the results of a complete or clinical exome sequencing for undifferentiated genetic pathology diagnosis;
• Molecular cytogenetic study (Array-CGH) to diagnose diseases associated with genomic disorders, such as microduplications/microdeletions, uniparental dysomy, or structural genomic disorders;
• Testing of targeted gene mutations by Sanger sequencing;
• Family planning and carrier screening: determination of hereditary predisposition to genetic diseases; analysis of 300 genes; determination of carriage of mutations associated with recessive diseases.

2)      Genetics of Cancer:

• Genetic testing of hereditary cancers in patients and their asymptomatic relatives. Search for mutations (gene panel of 83 genes) of hereditary tumor syndromes;
• Determination of sensitivity in the personalized treatment of cancer patients;
• Determination of the prognosis of development / Therapeutic monitoring of oncological diseases;
• Pharmacogenetic testing of prognostic and predictive somatic mutations: Panels of genes in patients with solid tumors for target therapy according to international protocols.

3)      Genetics of Autoinflammatory Diseases:

Molecular genetic diagnosis of patients with suspected autoinflammatory diseases. Determination of the full range of mutations and the panel of genes for autoinflammatory diseases by the Next-generation sequencing method, following the international protocols.

4)      Molecular Diagnostics:

• Prenatal and postnatal molecular genetic diagnostics by PCR, RT-PCR, and reverse hybridization:
• Patients and family members of patients with suspected monogenic diseases (hematological, neuromuscular, metabolic, endocrine);
• Identification of asymptomatic carriers of mutations;
• Determination of risk factors for multifactorial disorders.

5)      Genetic Studies of Infertility and Miscarriage.

6)      Clinical Cytogenetics: Detection of chromosomal abnormalities in couples with spontaneous abortion and infertility.

• Prenatal and postnatal diagnosis of chromosomal diseases and microdeletion/microduplication syndromes;
• Prenatal genetic diagnosis; Noninvasive prenatal testing.
• Cytogenetic study of abortions;
• Confirmation of diagnosis, monitoring, and determination of treatment strategy for patients with solid tumors and hematological diseases;
• Preimplantation genetic diagnosis.

2.      LABORATORY GENETICS: for general practitioners and specialists who have completed postgraduate studies or have a PhD in the field of “Genetics” (03.00.15). Modules for training (lectures, seminars, and practical classes/workshops) are designed for 1.5 years of study.

This course covers methodologies of molecular genetics and clinical cytogenetics, genomic test results and clinical validity used to uncover associations between genome variation and diseases at the laboratories with modern equipment from leading world companies and CE-IVD-certified diagnostic technologies. Residents participate in discussions and interpretations of the results of genetic studies.

1)      Molecular diagnostics: Prenatal and postnatal molecular genetic diagnostics by PCR, RT-PCR, reverse hybridization:

• Patients and family members with suspected monogenic diseases (hematological, neuromuscular, metabolic, endocrine);
• Identification of asymptomatic carriers of mutations;
• Determination of risk factors for multifactorial diseases.
• Molecular detection of infectious agents (RT-PCR)

2)      Genome Medicine: Genome Medicine is the study of extended gene panels to refine the diagnosis of a group of diseases with similar symptoms:

• hereditary diseases of blood, immune system, nervous system, reproductive, cardiovascular diseases, mental retardation, and neoplasms in patients of different age groups. Study includes:
• Whole exome sequencing, including 20,000 genes;
• Analysis and interpretation of the results of a complete or clinical exome sequencing for undifferentiated genetic pathology diagnosis;
• Molecular cytogenetic study (Array-CGH) to diagnose diseases associated with genomic disorders, such as microduplications/microdeletions, uniparental disomy, or structural genomic disorders;
• Testing of targeted gene mutations by Sanger sequencing;
• Carrier screening: determination of hereditary predisposition to genetic diseases.

3)      Clinical Cytogenetics: Detection of chromosomal abnormalities in couples with spontaneous abortion and infertility.

• Prenatal and postnatal diagnosis of chromosomal diseases and microdeletion/microduplication syndromes;
• Prenatal genetic diagnosis;
• Noninvasive prenatal testing;
• Cytogenetic study of abortions;
• Confirmation of diagnosis, monitoring, and determination of treatment strategy for patients with solid tumors and hematological diseases;
• Preimplantation genetic diagnosis;
• Karyotype research by methods of differential staining of chromosomes for various genetic disorders; molecular cytogenetics (FISH);
  • Sanger sequencing: prenatal testing for targeted mutations;
  • prenatal molecular karyotyping (Array-CGН).

Postgraduate education programs are offered on the following topics:

• Semiotics and Clinical Diagnosis of Hereditary Diseases (7 weeks).
• Prenatal Diagnosis of Hereditary Diseases and Congenital Malformations (7 weeks).
• Hereditary Metabolic Diseases: Preventive and Screening Programs (1 week).
• Hereditary Forms of Malignant Neoplasms (1 week).

The research projects are based on the achievements of human genome studies.

In the following projects, a wide range of hereditary diseases are investigated in the scope of their molecular nature, accurate and early diagnosis, prevention, and treatment.

• Refinement of Diagnosis of Syndromes Associated with Mental Retardation Using Molecular Genetic Technologies: European Union FP7 program “CHERISH.”
• Molecular Markers of Tumor-specific DNA Sequences Determining Unfavorable Prognosis, Factors of Moderate and High Risk of Predisposition to Breast Cancer; Determination of the Strategies of Treating the Disease: ERA-WIDE European Union FP-7 program “INARMERA.”
• Study of Molecular Genetic Factors in Familial Mediterranean Fever and Other Autoinflammatory Diseases to Identify New Biological Markers: ERA-WIDE European Union FP-7 program “INARMERA.”
• Study of Genetic Molecular Markers in Representatives of the Armenian Population in Comparison with Other Populations: National Center of Genotyping (Enry, France), Necker Hospital (Paris, France), Research Center of Ste-Justine Hospital (Montreal, Canada).
• EC Tempus IV project “Developing Medical Genetics Education through Curriculum Reforms and Establishment of Postgraduate Training Programs (MedGen)” 2013-2017;
• EUROPEAN COMMISSION: RESEARCH EXECUTIVE AGENCY: Unit Spreading Excellence, Widening Participation, Science with and for Society. Twinning for the Armenian Research Infrastructure on Cancer Research՞ ARICE. 2020-2023.

• Charles University, Czech Republic
• Medical University of Graz, Austria
• Rheumatology Unit and FMF Clinic at Hadassah Hebrew University Medical Center, Israel
• Pediatric Immunology and Rheumatology & FMF clinic, Hadassah Mount Scopus, Israel
• Rabin Medical Center, Schneider Children’s Medical Center, Israel
• IARC Center, France
• Paris Descartes – Sorbonne Paris Cité, IMAGINE Institute for Genetic Diseases, University of Paris, France
• The Institute for Molecular Medicine, Department of Immunology, Huntington Beach, USA
• American Board of Bioanalysis, Kaiser Permanente Regional Molecular Genetic Pathology Laboratory, CA, USA.
• Bioanalitica, Genotype, Athens, Greece.

Tamara Sarkisian, Head of Department, Doctor of Biological Science, Professor

Hasmik Hayrapetyan, Doctor of Biological Sciences, Professor

Susanna Midyan, Associate Professor, PhD in Biology

Davit Babikyan, Associate Professor, PhD in Biology

Natella Kostandyan, lecturer

Alvina Oganezova, lecturerArtem Gasparyan, Assistant, MD, PhD in Medical Sciences

Alin Aivaz, Assistant