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Genomic Analysis of an Ancient Armenian Population from the Artsakh/Nagorno-Karabakh Region and Other Areas of Armenia

Implications for Public Health Policy in the Homeland and the Diaspora

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Photo by Sangharsh Lohakare on Unsplash

Lecture by Wayne W. Grody, MD, Ph.D., professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine.

This event is co-sponsored by the UCLA Department of Pathology & Laboratory Medicine, the UCLA Institute for Society and Genetics, the Armenian International Medical Fund, the Armenian American Nurses Association, the Armenian American Medical Society, the Armenian Medical International Committee, and the UCLA Armenian Students' Association.

Tuesday, January 23, 2024
7:00 PM - 9:00 PM (Pacific Time)

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Abstract

Studying the molecular genetics of relatively isolated populations provides the opportunity for discovery and characterization of disease-associated genes because some of the rare genomic variation underlying disease may be found at a much higher frequency due to founder, bottleneck, and genetic drift effects. As part of our ArmGenia project, a collaborative effort between geneticists in Armenia and UCLA, we first performed genome-level DNA sequencing on 49 individuals from several regions of Armenia. Principal component analysis revealed likely patterns of ancestry and relatedness among the Armenian regions and with other major races and ethnicities worldwide. In addition, a number of heterozygous mutations in genes associated with childhood recessive disorders were identified, suggesting a potential strategy for implementation of prenatal carrier screening in Armenia.

More recently, with funding from the Promise Armenian Institute, we chose to characterize genomic variants in one of the most ancient and relatively isolated subpopulations of Armenians in the war-torn region of Artsakh by a combination of high-density microarray genotyping (over 900,000 targets per subject) and DNA sequencing. The blood specimens from Artsakh were collected prior to the war in the fall of 2020. In addition to the recessive carrier mutations observed before (including, of course, familial Mediterranean fever), we identified a number of DNA variants at surprisingly high frequency in genes associated with cardiovascular disease and cancer, which could account for the relatively high prevalence of these conditions in the Armenian population. Ongoing studies are expanding these findings to Armenians in the Republic of Armenia and in the Diaspora, which will ultimately enable us to implement customized clinical and molecular screening programs specific for this ethnic population.

Speakers

Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics, and the Institute for Society and Genetics, at the UCLA School of Medicine. He is the founding director of the Molecular Diagnostic Laboratories and the Clinical Genomics Center within the UCLA Health System, one of the first such facilities in the country to offer DNA-based tests for diagnosis of a wide variety of genetic, infectious, and neoplastic diseases. He is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. In addition, he is heavily involved in basic molecular genetics research involving regulation of gene expression in metabolic disorders and various cancers, population molecular genetic screening, and genomic approaches to hereditary disease pathogenesis. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a large number of governmental and professional agencies, served for five years as founding chair of the Advisory Committee on Genomic Medicine for the entire VA healthcare system, and is Past President of the American College of Medical Genetics. He was the expert witness for the American Civil Liberties Union in the historic Supreme Court case that invalidated patenting of human genes.

A particular interest has been in the diagnosis, treatment, and population genetics of familial Mediterranean fever, a recessive genetic disease especially prevalent in individuals of Armenian descent. This has led to much involvement with the local and international Armenian community and the launch of the ArmGenia Project, aimed at characterizing genetic risks and ancestry of the Armenian population to inform new efforts in public health and prevention.

As a sidelight, Dr. Grody has been active in the film and television industries for many years, first as film critic for MD Magazine, a national leisure journal for physicians, then as technical advisor and sometime writer for a number of feature films, TV movies, and television series including Life Goes On, Chicago Hope, CSI, Medium, Law and Order, Heroes, Grey’s Anatomy, WHAT/IF, Chicago Med, Virgin River, and both Nutty Professor movies. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double-board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, Biochemical Genetics).

Evgeni V. Sokurenko, M.D., Ph.D. is a Professor in the Department of Microbiology at the University of Washington School of Medicine, Seattle, Washington. He is a founding Board member of the ArmGenia Project, ARMADA Foundation, and ID Genomics, Inc. Dr. Sokurenko's interests are in genetics, evolution and epidemic spread of human pathogens, population-wide susceptibility to infectious and somatic diseases, vaccine and monoclonal therapeutics design, and development of rapid DNA-based diagnostic tests. He has pioneered several fundamental concepts in the biomedical fields, including the 'pathoadaptive evolution' of human pathogens, the 'catch bond' mechanism of protein-receptor interactions, 'clonal diagnostics' of infectious diseases, 'parasteric' antibodies, etc. Dr. Sokurenko and his colleagues' research was featured by Natural History Magazine, National Geographics, Forbes, Reuters Health, Seattle Times, and other print, web, TV, and radio media outlets. Over the years, he received over $50 million in research grants, published nearly 160 papers and book chapters, and served on dozens of national expert panels.

Dr. Sokurenko was born in Ukraine, received his degrees from the Moscow Medical Academy, and moved to the USA to continue his research career in 1990. He is blessed to be married to a wonderful Armenian woman, Arpenik Avakian, Ph.D., MD, practicing as a vitreoretinal surgeon in Seattle. Dr. Sokurenko and Dr. Avakian are the co-founders of the ArmGenia Project, support various Armenian medical foundations, and continue to contribute to the cause of the Armenian people through different means.

Sevak Avagyan, MD, serves as the Executive Director of the Armenian Bone Marrow Registry of Yerevan, Armenia, and Armenian Relief Society's (ARS) Akhouryan, Mother and Child Health Center in Shirak Region, Armenia. He is a member of the Commission for Presidential Awards in Medicine and Medical Science in Armenia and was the Executive Director for St. Nerses the Great Hospital in Yerevan, Armenia.

Dr. Avagyan held different positions in the Ministry of Health of Armenia from 1986 to 2000. As the Deputy Ministry of Health, he facilitated the development of 2000-2020 healthcare strategies for Armenia based on the World Health Organization's "Health for All" strategies. Furthermore, he held different positions at the National Health Institute, and in 1996, he initiated the concept of continuing education for physicians.

Dr. Avagyan received his medical degree from Yerevan State Medical University of Armenia and completed his postgraduate studies in Russia and Ukraine. Afterwards, he completed followship programs in Tennessee, USA, and Toronto, Canada.

Dr. Avagyan is the co-founder of ArmGenia, and in 2016, signed the memorandum of understanding between UCLA-ArmGenia to study Armenian whole genomes. Today, the project continues, and in the near future, the research findings will translate to the development of a technology to be used in Armenia.


This event will take place at the Mong Learning Center (Engineering VI Building)

Visitor parking available at UCLA Parking Structure 8.

  1. Park on the roof of Parking Structure 8
  2. Pay for parking at a Paystation
  3. Take the stairs or the elevator to Level 1/Westwood Plaza
  4. Cross the street diagonally, then turn slightly left, continuing north, past the bus stop
  5. Engineering VI will be on your right as you walk north on Westwood Plaza

Please note: This event will be photographed and recorded for documentation and distribution. All audience members agree to the possibility of appearing in these photographs and recordings by virtue of attending the event or participating in the event.


Sponsor(s): The Promise Armenian Institute, Pathology and Laboratory Medicine, Institute for Society and Genetics