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Volume 8 Journal of Gastrointestinal & Digestive System
ISSN: 2161-069X
Page 33
JOINT EVENT
Pediatric Gastro 2018
Digestive Diseases 2018
October 22-23, 2018
October 22-23, 2018 Berlin, Germany
3rd International Conference on
Digestive and Metabolic Diseases
Pediatric Gastroenterology Hepatology & Nutrition
13th International Conference on
&
The single consolidated system for helping families with a hereditary pathology in the modern world:
50 years of experience
O Y Grechanina
Kharkiv Interregional Specialized Medical Genetic Center – KNMU, Ukraine
Introduction: A powerful stream of new knowledge, evolutionary changes, loss of communication language between
the genome and the environment − a short list of modern world features that entails comorbidity phenomenon. Kharkiv
Interregional Specialized Medical Genetic Center – builds a single system of assistance for families with hereditary pathology,
combining the efforts of scientists, doctors, nurses, technical personnel, regional authorities.
Aim: The aim of this studies the epidemiological, clinical, genetic and epigenetic characteristics of the population for the early
and effective care of families.
Materials & Methodology: epidemiological, clinical-genetic, biochemical, cytogenetic, molecular-genetic.
Results: KISMGC-CR(O)D includes Medical Genetic Center, the Department of Medical Genetics and Ukrainian Institute of
Clinical Genetics, KNMU, 160 employees (an average age is 30). Admitted in 2008 - 34699, 2017 - 37726 (for 10 years - 374929);
primary - 2008 - 18018, 2017 - 11603 (for 10 years - 132309); established nosological forms in 2008 - 553, 2017 - 585 (for 10
years - 5622). A high incidence of mesodermal and ectodermal dysplasias, hamartoses, defects and diseases of the nervous
system, hereditary connective tissue dysplasias, cardiovascular diseases, mitochondrial dysfunctions, hereditary metabolic
diseases (metabolic disorders of methionine, heme, amino acids, purines, pyrimidines, organic acids, neurotransmitters,
vitamins and cofactors). A unified system of assistance has been upbuilt: used "Harper principle" - the lifelong communication
between a geneticist and a family; Principles Hardi I. - "doctor-nurse-family"; "1+5 Principles" - the diagnosis of expert team;
collegiality principle - a council of experts, social workers, government officials; the principle of "there are no somebody else’s
children" have made it possible to involve representatives of the regional parliament and social services, parents associations
in the fate of children.
Conclusions:The effectiveness systemresults are significant, which is reflected in early diagnosis, socially provided rehabilitation
and treatment, the demand for the Center in Ukraine and other CIS countries.
Biography
Olena Grechanina has completed her PhD at the age of 24 years from National Medical University (the Department of General Medicine) and postdoctoral studies
from National Medical University (the Department of Obstetrics and Gynecology). She is the General Director of Kharkiv Interregional Specialized Medical Genetic
Center – Center of Rare (Orphan) Diseases, the Member-Correspondent of National Academy of Medical Sciences, Professor of The Department of Medical
Genetics, MD.
O Y Grechanina, J Gastrointest Dig Syst 2018, Volume 8
DOI: 10.4172/2161-069X-C7-083