Hereditary Metabolic Diseases Laboratory

Ekaterina Y. Zakharova

Doctor of medical science.– Head of the Laborator

More details


Ekaterina Y. Zakharova - Head of the Laboratory, Chief researcher, Doctor of medical science

Galina V. Baidakova - Leading researcher, Candidate of biological science.

Elena Y. Voskoboeva - Leading researcher, Candidate of medical science.

Tatiana M. Bukina - Senior researcher, Candidate of biological science.

Olga I. Ivanova - Senior researcher, Candidate of biological science.

Tatiana Y. Proshlyakova - Senior researcher, Candidate of biological science.

Polina G. Tsygankova - Senior researcher, Candidate of biological science.

Anna M. Bukina – Researcher

Yulia S. Itkis - Researcher

Marina V. Kurkina - Researcher

Lusya P. Melikyan - Researcher

Ilya O. Nagornov - Researcher

Tatiana S. Nagornova - Researcher

Igor O. Bychkov - Junior research fellow

Elena A. Gusarova - Junior research fellow

Aleksandra A. Ilyushkina - Junior research fellow

Maria G. Krasnova - Laboratory research assistant

115478, Moscow,

Moscvorechie Str., 1



Main publications

The Hereditary Metabolic Diseases Laboratory was set up in the Research Centre for Medical Genetics more than 30 years ago. First, the Laboratory has focused on the development of tests for phenylketonuria detection and selective screening programs for hereditary metabolic diseases (HMD). Gradually, the Laboratory started to use complex biochemical and molecular genetic methods for the accurate diagnosis of hereditary diseases. The Laboratory developed the approaches to the biochemical diagnosis of cellular organelles diseases under the guidance of Professor Ksenia Dmitrievna Krasnopolskaya. Today, it is the only Laboratory in Russia to carry out the postnatal and prenatal diagnostics of the most of these group diseases.

The research area of the Laboratory also includes the search for new biochemical markers for hereditary diseases, and the development of new methods for their effective diagnosis.

The range of biochemical methods used in the Laboratory is extremely wide and includes electrophoresis of urine glycosaminoglycans, transferrin isoelectric focusing, chromatography mass spectrometry, high performance liquid chromatography, analysis of lysosomal and mitochondrial enzymes activity using chromogenic and fluorogenic substrates, and oxography. For the first time, the Laboratory has diagnosed some of HMD forms not previously detected in this country.

Introduction of a tandem mass spectrometry method, which allows detecting about 30 forms of hereditary diseases from the most common HMD groups in microquantities of biological materials (dried blood or plasma spot): aminoacidopathies, organic aciduria and mitochondrial β-oxidation, has become a significant breakthrough in HMD diagnosis.

In recent years, the Laboratory have been actively developing the molecular genetic methods. They created DNA-diagnostics protocols for some diseases of HMD group, which allow to reduce the time of diagnosis and to avoid the use of laborious and invasive biochemical methods. Since 2015, the Laboratory has used next generation sequencing for the simultaneous analysis of multiple genes. Such panels are designed for mitochondrial diseases, hereditary diseases with a primary hepatic lesions, leukodystrophy/leukoencephalopathy.

To date, the applied biochemical and molecular genetic methods allow us to diagnose more than 200 different forms of hereditary metabolic diseases.

The Laboratory is working on the characteristics of mutations spectrum and frequency in hereditary mucopolysaccharidosis, sphingolipidosis, neuronal ceroid lipofuscinosis; develops the algorithms for diagnosing diseases with damage to the white matter of brain, as well as other inherited neurometabolic disorders.