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BECTHMKÎEMATOnOiMM, tomXI, №2, 2015
Evseeva Irina x'2
1 Anthony Nolan (UnitedKingdom), 2WMDA
INTERNATIONAL COLLABORATION OF UNRELATED DONOR REGISTRIES
AND CORD BLOOD BANKS
The World Marrow Donor Association (WMDA) is a voluntary organisation of representatives of blood stem cell donor registries, cord blood banks, and other organisations and individuals with an interest in blood stem cell transplantation. It provides a forum for discussion of issues regarding the clinical use of blood stem cells from unrelated donors across international boundaries and for formulation of guidelines on logistics, quality control, ethics, finances, information technology and registry accreditation.
More than 25 million adult unrelated donors and more than half a million Cord Blood Units (CBUs)
are currently listed in the registries worldwide. Using international cooperation more than one million patients received unrelated haematopoieitic stem cell transplantation. The number of transplants grows every year, and patient outcome constantly improves.
The presentation will cover history of the WMDA, its structure, projects and initiatives being currently run in order to harmonise practices and collaboration between the registries. The role of Bone Marrow Donor Worldwide (BMDW) and European Marrow Donor Information System (EM-DIS) will be described.
Yepiskoposyan LNazaretyan M.Avagyan S., Sokourenko E.
ArmGenia Genetic Research Charitable Trust, Institute of Molecular Biology of the NAS, Yerevan, Armenia
MAPPING GENETIC AND CULTURAL ROOTS OF ARMENIANS
Armenians present culturally and geographically isolated population with a unique position within global genetic diversity, historically inhabited a region in the Near East bounded by the Mediterranean and Black seas and the Caucasus.
Armenian alphabet and language belong to independent branch of Indo-European family with distinctive phonological developments.
Geographic location and other factors were possible reasons that saved Armenians from significant mixture with other populations in recent history.
This study was initiated to explore the genetic/ historical/cultural pathways of Armenians by applying novel technologies and anthropological genetic mapping in order to cover existing under-represen-tation of Armenians in population genetics studies and genome-wide analysis.
The study responds to specific research questions regarding genetic and cultural signatures and level of isolation and genetic diversities of Armenians.
Since the insights into the human past envelops diverse areas of human existence, a combination of various methods, including genetic studies of Armenian subjects, population database and admixture analysis have been used for genetic mapping and
preparation of a multilayer «pie», representing anthropological genetics and proven historical, cultural and linguistic data. Results and detailed findings are summarized and presented on the website that can be found at www.armgenia.am.
This study shed a light on the genetic history of the Armenian population and their ancient genetic contacts with other Middle Eastern indigenous populations.
In broad historical context, highlights were articulated on the role the Armenians played in the genetic history of the Middle East and the Armenian Highlands, apparently being a main transition «corridor» for modern humans' migration to Europe both in Paleolithic and Neolithic.
Analysis of mixture of anthropological genetic signals with historical/cultural and linguistic data applications showed strong evidence for the indigenous nature of Armenians. The role of distinctive culture and language resulted in genetic isolation of Armenians from their surroundings.
The future steps of this research is to continue collection of Y chromosome paternal data to ensure the coverage of the whole extent of historical Armenia and to map direct masculine ancestry through-
«АКТУАЛЬНЫЕ ВОПРОСЫ ИММУНОГЕНЕТИКИ И ТКАНЕВОГО ТИПИРОВАНИЯ»
Санкт-Петербург 24-25 июня 2015 г.
out our historical expanse. Then maternally inherited genetic traits will be explored by mitochondrial DNA analysis to ensure that a maternal counterpart
to the paternal line of descent will be available as a necessary complement to present genetic background of the Armenians.
Naumova E.
Department of Clinical Immunology and Stem Cell Bank, University Hospital «Alexandrovska», Medical University, Sofia, Bulgaria
STRATEGY FOR FINDING THE SUITABLE DONOR IN HSCT
Haematopoietic stem cell transplantation (HSCT) is limited by finding a suitable donor. The »best» donor is HLA matched sibling or unrelated donor. Unfortunately, in most cases the probability to find HLA identical sibling does not exceed 30 % and depends on the family size. Additionally, number of factors restrict the probability to find HLA matched donor in Bone Marrow Donors Worldwide such as patient's ethnicity, presence of rare alleles or haplotypes, possible relevance of «non-classical» HLA and non-HLA alleles. All these factors should be considered for the estimation of time for donor search. For the Bulgarian patients the mean time to identify 10/10 matched donor varies from 28 to more than 90 days depending on the HLA genotype. Patient's related factors such as diagnosis and disease stage and transplant protocol are also important
for donor selection and clinical outcome of HCST. In order to increase the efficacy of transplantation alternative strategies such as umbilical cord blood, mismatched unrelated adult donor or haploidenti-cal related donor are considered for patients lacking HLA identical donor. In such cases it is important to estimate a number of clinically relevant factors, such as: the time for engraftment and haematopoie-sis reconstitution, graft failure rate, graft versus host disease, transplant related mortality and relapses. Current data in the literature as well as our experience on the relevance of immunogenetic factors in HSCT will be discussed. An algorithm for finding the most suitable donor, that could help clinicians to provide an adequate treatment for each individual patient will be presented.
Nezih Cereb, MD
CEO & Co-founder Histogenetics
ADVANCES IN DNA SEQUENCING TECHNOLOGIES FOR HIGH RESOLUTION HLA TYPING
Recent advances in DNA sequencing technologies, so-called Next Generation Sequencing (NGS), have brought breakthroughs in deciphering the genetic information in all living species at a large scale and at an affordable level.
By introducing DNA barcode (index) sequences multiplexing samples from hundreds of individual became possible for genotyping certain genomic regions faster and cheaper with higher resolution.
In this talk I will present Histogenetics's experience and accomplishments in applying NGS for large-scale high resolution HLA typing. Histogenet-
ics had established Sanger capillary technology in 2006 for large volume DNA-based sequencing typing and more than 3.8 million samples were typed with that technique. Histogenetics' existing infrastructure helped us to transition to the NGS technologies without compromising accuracy, volume of typing and speed. In March 2013 Histogenetics introduced a Hybrid approach of Sanger + Illumina MiSeq DNA sequencing. A total 460,190 samples were typed with MiSeq + Sanger to validate MiSeq data during transition to NGS, shown in the table 1.
