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Molecular Diagnostics of Hereditary Diseases

#A-549


Prevention of Hereditary Diseases by Molecular Diagnostics

Tech Area / Field

  • MED-DID/Diagnostics & Devices/Medicine
  • BIO-CGM/Cytology, Genetics and Molecular Biology/Biotechnology

Status
3 Approved without Funding

Registration date
06.07.2000

Leading Institute
Center of Medical Genetics of NAS RA, Armenia, Yerevan

Collaborators

  • CNRS / Unite de Physiopathlogie Cellulaire et Moleculaire, France, Toulouse\nUS Department of Health & Human Services / National Institute of Health, USA, MD, Bethesda\nUniversity of Oxford / Wellcome Trust Center for Human Genetics, UK, Oxford

Project summary

The aim of the proposed project is the study of the distribution and registration of frequency and structure of genetic pathology in Armenia. At the conclusion of this research recommendations will be made on the prevention of development of genetic diseases and birth defects.

The problems connected with identification of the human genes for diagnostics of genetic disorders are very actual. Presently, we do not know the frequency of gene and chromosomal mutations in Armenia, therefore, a molecular study is necessary for its diagnostic and prognostic value. This proposal presents a program for development of modern molecular and cytogenetic approaches, including DNA-diagnostics, risk assessment and methods to address the environmental and other negative health effects. This project will develop a register of genetic disorders, estimate the frequency of mutations, and the types of inheritance, and help to prevention of congenital diseases before birth.

At present, more than 5000 structural genes and 60000 functional and anonymous DNA sequences are identified on human genetic maps. More than 800 genes are mapped on human chromosomes; the mutations of these genes cause different inherited diseases. The localization of the controlling genes is known for monogenic diseases, which is formed of 950 different alleles. Mutations of the same gene can cause the diseases with different clinical symptoms. Molecular genotyping of the mutations is used for the prenatal diagnostics of inherited diseases in high risk families. Various DNA-contained cells of organisms are used for the genetic diagnostics and for the analysis on all stages of the ontogenesis beginning from the stage of zygote. At present, each inherited disorder where the gene is identified, is available to DNA-diagnostics by direct or indirect methods. Problems of molecular diagnostics are solved for monogenic diseases, but now much attention is spent on multifactorial diseases. Molecular analyses are very actual for predisposition to such widely spread disorders as atherosclerosis, heart ischemia, oncological, mental disorders, diabetes,etc.

High freqencies of definite mutations are revealed in some populations. In particular, Familial Mediterranean Fever (Periodic disease) is widely spread within the Armenian population. In such cases early presymptomatic molecular diagnostics is necessary.

The vision and field of activities of the Center of Medical Genetics of the National Academy of Sciences of Armenia is the main direction to provide a comperehensive program of clinical and laboratory genetic services to assist in the diagnosis and management of genetic-influenced disorders. Foreign collaborators are assisting in the development of modern directions of molecular medical genetics. In collaboration with the Department of molecular genetics of Henri Mondor Hospital (Paris) and with the Genetics Department of National Institute of Arthritis and Musculoskeletal and Skin Diseases of The National Institutes of Health (Bethesda, USA) the molecular analysis of MEFV gene mutations in Armenian patients suffering from Periodic disease was performed.

The complete analysis of the pathogenesis during the current genetic study will advance the understanding of the inflammation processes and its regulation. MEFV genotyping may identify inpiduals in their presymptomatic phase, increasing the possibility of beginning a therapy prior to the occurrance of clinical symptoms. FMF is the prototype for several hereditary periodic fever syndroms, and the aim of this research project will help to evaluate mutational frequencies of the hereditary periodic fever syndroms.

One of the main directions of the Centre is the molecular cytogenetic researches, as in the structure of inherited and birth pathology the leading role belongs to the chromosomal syndromes. Prenatal diagnostics of the defects of development and of the chromosome syndromes is very actual, as for the majority of these conditions the postnatal correction is not possible. One of the main aims of the proposed project is investigation of the mutations in the cells of children and adults, to carry out prenatal diagnostics in the families and also identify heterozygous carriers of recessive mutations in population.

This project will develop the investigations in biochemical genetics. The primary of activities is the definition of the levels of cardiotroponin for diagnostics of different stages of ishemic heart diseases. This method is well known as the most effective tests in matching with the MB-creatinkinase and lactatdegidrogenase. The property of eliciting of a micronecrosis of a heart muscle has major value at a unstable stenocardia.


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