Purpose of the development: The aim is to develop a prototype ( laboratory samples ) test systems for analysis of genomic DNA reorganization ( gene mutations ) and epigenetic disorders of the human genome ( methylation ) that cause the most common genetically determined disease with severe disability associated with neurodegeneration central ( fragile X syndrome - chromosome , non-syndromic intellectual disabilities and X - Clutch ataxia adulthood with tremor , Huntington's chorea, Prader - Willi and Angelman ) and peripheral ( hereditary demyelinating polyneuropathy , proximal and distal spinal muscular atrophy and amyotrophic lateral sclerosis , Friedreich's ataxia ) nervous system.

Recommended application field: Medicine.

Advantages over analogues: The advantage of the test systems offered over existing market test systems for foreign manufacturers ( domestic counterparts does not exist) is an advanced spectrum of disorders that are detected (including epigenetic abnormalities - analysis of the methylation status ) , the ability to identify asymptomatic carriers , approximated 100% informative , their versatility when used on a wide range of equipment which is equipped with medical facilities in Ukraine , as well as low cost per DNA research (1 genetic syndrome for one patient - 500 UAH per adult . )

The development stage readiness: Ready for application

Description of the development:
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Prototypes test kits will contain components of the reaction mixture for the analysis of genetic and epigenetic abnormalities (including sets of specific primers and probes ) , the reference DNA samples with genetic and epigenetic abnormalities , instruction algorithm analysis ( instructions for use ) and instructions manufacturing test system . The effect of the test systems : - Improvement of the differential diagnosis of hereditary NDZ ; - Secondary prophylaxis (preventive measures to reduce the risk of having sick children ); - Development of pharmacogenetic approaches to treatment based on the results of DNA diagnostics ( personalized therapy of hereditary NDZ ) - Economic effect (reduced costs for maintenance and treatment ) .

Information about newness of the development:

ноу-хау--
1 шт.

corresponds technical description
Ready for implementation

Possibility of transfer abroad:
Licence's sale
Technological document's sale

Photo

Country Ukraine

For additional information turn to:
E-mail: gal@uintei.kiev.ua